Incidental Mutation 'R4735:Dsp'
| ID |
356512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsp
|
| Ensembl Gene |
ENSMUSG00000054889 |
| Gene Name |
desmoplakin |
| Synonyms |
DP, 2300002E22Rik, 5730453H04Rik, rul |
| MMRRC Submission |
041962-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4735 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
38335270-38382553 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38380016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1655
(S1655P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124830]
[ENSMUST00000127906]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124830
AA Change: S2254P
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115062
Gene: ENSMUSG00000054889
AA Change: S2254P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SPEC
|
193 |
282 |
2e-51 |
BLAST |
|
SPEC
|
285 |
385 |
6.03e-2 |
SMART |
|
Blast:SPEC
|
391 |
557 |
1e-96 |
BLAST |
|
Blast:SPEC
|
783 |
894 |
4e-34 |
BLAST |
|
SPEC
|
901 |
1030 |
1.39e0 |
SMART |
|
coiled coil region
|
1033 |
1370 |
N/A |
INTRINSIC |
|
coiled coil region
|
1394 |
1956 |
N/A |
INTRINSIC |
|
low complexity region
|
1997 |
2011 |
N/A |
INTRINSIC |
|
PLEC
|
2021 |
2057 |
3.33e-1 |
SMART |
|
PLEC
|
2058 |
2095 |
3.76e-9 |
SMART |
|
PLEC
|
2096 |
2133 |
4.09e-10 |
SMART |
|
PLEC
|
2134 |
2171 |
2.09e-7 |
SMART |
|
PLEC
|
2175 |
2209 |
4.83e1 |
SMART |
|
PLEC
|
2210 |
2245 |
5.67e1 |
SMART |
|
PLEC
|
2263 |
2300 |
1.22e-8 |
SMART |
|
PLEC
|
2301 |
2338 |
1.16e-9 |
SMART |
|
PLEC
|
2339 |
2376 |
1.12e-7 |
SMART |
|
PLEC
|
2377 |
2414 |
1.56e-6 |
SMART |
|
PLEC
|
2418 |
2452 |
1.42e0 |
SMART |
|
PLEC
|
2468 |
2505 |
3.7e-8 |
SMART |
|
low complexity region
|
2507 |
2517 |
N/A |
INTRINSIC |
|
PLEC
|
2519 |
2556 |
3.73e-4 |
SMART |
|
low complexity region
|
2577 |
2593 |
N/A |
INTRINSIC |
|
PLEC
|
2622 |
2659 |
1.46e-6 |
SMART |
|
PLEC
|
2660 |
2697 |
6.69e-15 |
SMART |
|
PLEC
|
2698 |
2735 |
1.98e2 |
SMART |
|
PLEC
|
2736 |
2773 |
2.35e-10 |
SMART |
|
PLEC
|
2774 |
2811 |
1.39e-3 |
SMART |
|
low complexity region
|
2835 |
2860 |
N/A |
INTRINSIC |
|
low complexity region
|
2867 |
2879 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127906
AA Change: S1655P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117252
Gene: ENSMUSG00000054889
AA Change: S1655P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SPEC
|
193 |
282 |
2e-51 |
BLAST |
|
SPEC
|
285 |
385 |
6.03e-2 |
SMART |
|
Blast:SPEC
|
391 |
557 |
1e-95 |
BLAST |
|
Blast:SPEC
|
783 |
894 |
3e-34 |
BLAST |
|
SPEC
|
901 |
1030 |
1.39e0 |
SMART |
|
coiled coil region
|
1033 |
1357 |
N/A |
INTRINSIC |
|
low complexity region
|
1398 |
1412 |
N/A |
INTRINSIC |
|
PLEC
|
1422 |
1458 |
3.33e-1 |
SMART |
|
PLEC
|
1459 |
1496 |
3.76e-9 |
SMART |
|
PLEC
|
1497 |
1534 |
4.09e-10 |
SMART |
|
PLEC
|
1535 |
1572 |
2.09e-7 |
SMART |
|
PLEC
|
1576 |
1610 |
4.83e1 |
SMART |
|
PLEC
|
1611 |
1646 |
5.67e1 |
SMART |
|
PLEC
|
1664 |
1701 |
1.22e-8 |
SMART |
|
PLEC
|
1702 |
1739 |
1.16e-9 |
SMART |
|
PLEC
|
1740 |
1777 |
1.12e-7 |
SMART |
|
PLEC
|
1778 |
1815 |
1.56e-6 |
SMART |
|
PLEC
|
1819 |
1853 |
1.42e0 |
SMART |
|
PLEC
|
1869 |
1906 |
3.7e-8 |
SMART |
|
low complexity region
|
1908 |
1918 |
N/A |
INTRINSIC |
|
PLEC
|
1920 |
1957 |
3.73e-4 |
SMART |
|
low complexity region
|
1978 |
1994 |
N/A |
INTRINSIC |
|
PLEC
|
2023 |
2060 |
1.46e-6 |
SMART |
|
PLEC
|
2061 |
2098 |
6.69e-15 |
SMART |
|
PLEC
|
2099 |
2136 |
1.98e2 |
SMART |
|
PLEC
|
2137 |
2174 |
2.35e-10 |
SMART |
|
PLEC
|
2175 |
2212 |
1.39e-3 |
SMART |
|
low complexity region
|
2236 |
2261 |
N/A |
INTRINSIC |
|
low complexity region
|
2268 |
2280 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous targeted null mutants die by embryonic day E6.5 due to instability of desmosomes and tissue integrity; rescue by aggregation with wild-type tetraploid morulae increase embyronic survival with noted major defects in heart muscle, neuroepithelium and epidermis; conditional knockouts that are epidermal-specific have compositionally altered epidermal desmosomes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 133 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,262,897 (GRCm39) |
I1410N |
possibly damaging |
Het |
| 9230106D20Rik |
T |
C |
10: 19,536,001 (GRCm39) |
|
noncoding transcript |
Het |
| Acsf3 |
T |
A |
8: 123,508,218 (GRCm39) |
I238N |
probably damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,580,964 (GRCm39) |
N1746S |
probably benign |
Het |
| Akap3 |
T |
C |
6: 126,842,601 (GRCm39) |
S407P |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,621,437 (GRCm39) |
M241K |
probably benign |
Het |
| Ano7 |
C |
A |
1: 93,328,216 (GRCm39) |
T622K |
probably benign |
Het |
| App |
T |
C |
16: 84,900,202 (GRCm39) |
T83A |
probably damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,036,237 (GRCm39) |
E1674V |
probably damaging |
Het |
| Asb2 |
C |
A |
12: 103,291,317 (GRCm39) |
V489L |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,862,910 (GRCm39) |
V1330A |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,059,116 (GRCm39) |
N3267K |
possibly damaging |
Het |
| Brca1 |
A |
G |
11: 101,383,001 (GRCm39) |
|
probably null |
Het |
| Bspry |
G |
A |
4: 62,404,762 (GRCm39) |
R186Q |
probably damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,100,861 (GRCm39) |
I79T |
probably benign |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,790,230 (GRCm39) |
|
probably null |
Het |
| Ckap4 |
A |
G |
10: 84,369,384 (GRCm39) |
V116A |
possibly damaging |
Het |
| Crb3 |
A |
G |
17: 57,372,207 (GRCm39) |
T85A |
probably damaging |
Het |
| Cyld |
T |
C |
8: 89,456,278 (GRCm39) |
S443P |
probably damaging |
Het |
| Cyp27a1 |
T |
G |
1: 74,776,366 (GRCm39) |
V434G |
possibly damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,787,720 (GRCm39) |
T339A |
probably benign |
Het |
| Dars1 |
A |
T |
1: 128,303,971 (GRCm39) |
L252* |
probably null |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| Ddx55 |
T |
C |
5: 124,704,539 (GRCm39) |
F382S |
probably damaging |
Het |
| Dmtf1l |
T |
A |
X: 125,722,217 (GRCm39) |
K296M |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,106,115 (GRCm39) |
R33Q |
unknown |
Het |
| Dnm2 |
G |
T |
9: 21,385,883 (GRCm39) |
S302I |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,681,525 (GRCm39) |
F75I |
probably benign |
Het |
| Dpp10 |
T |
C |
1: 123,326,356 (GRCm39) |
N365S |
probably benign |
Het |
| Dpy19l3 |
G |
T |
7: 35,422,146 (GRCm39) |
Q236K |
probably benign |
Het |
| Ebpl |
A |
T |
14: 61,579,567 (GRCm39) |
I117N |
probably damaging |
Het |
| Edc4 |
T |
A |
8: 106,613,818 (GRCm39) |
V386E |
probably damaging |
Het |
| Eif2s2 |
T |
A |
2: 154,720,467 (GRCm39) |
|
probably null |
Het |
| Elob |
A |
T |
17: 24,046,562 (GRCm39) |
|
probably null |
Het |
| Enox2 |
T |
C |
X: 48,158,554 (GRCm39) |
I71V |
probably damaging |
Het |
| Fez1 |
A |
T |
9: 36,772,141 (GRCm39) |
K149* |
probably null |
Het |
| Fhip2a |
A |
G |
19: 57,359,661 (GRCm39) |
E67G |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,810,782 (GRCm39) |
Y163H |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,455,812 (GRCm39) |
G2048S |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,736,022 (GRCm39) |
D539G |
probably benign |
Het |
| Frmd4b |
T |
C |
6: 97,436,220 (GRCm39) |
|
probably benign |
Het |
| Gan |
C |
T |
8: 117,920,970 (GRCm39) |
T402M |
probably damaging |
Het |
| Ganc |
T |
A |
2: 120,267,104 (GRCm39) |
|
silent |
Het |
| Ggt6 |
C |
A |
11: 72,327,425 (GRCm39) |
R103S |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,768,052 (GRCm39) |
D725G |
probably damaging |
Het |
| Gm15446 |
T |
A |
5: 110,090,818 (GRCm39) |
C357S |
probably damaging |
Het |
| Gm44501 |
A |
G |
17: 40,889,810 (GRCm39) |
N108S |
probably benign |
Het |
| Gm6309 |
A |
T |
5: 146,105,054 (GRCm39) |
D286E |
probably damaging |
Het |
| Gm6358 |
G |
A |
16: 88,937,848 (GRCm39) |
G29E |
unknown |
Het |
| Grik5 |
A |
G |
7: 24,757,713 (GRCm39) |
I422T |
probably damaging |
Het |
| Grin2c |
A |
G |
11: 115,140,422 (GRCm39) |
I1232T |
possibly damaging |
Het |
| Gsg1 |
C |
T |
6: 135,214,405 (GRCm39) |
R365H |
possibly damaging |
Het |
| H2-M2 |
A |
G |
17: 37,794,135 (GRCm39) |
S30P |
possibly damaging |
Het |
| Hcfc2 |
A |
G |
10: 82,547,914 (GRCm39) |
D302G |
probably damaging |
Het |
| Hk2 |
T |
C |
6: 82,721,955 (GRCm39) |
D128G |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,273,787 (GRCm39) |
Q1380K |
probably benign |
Het |
| Hsp90b1 |
G |
T |
10: 86,529,819 (GRCm39) |
P617T |
probably damaging |
Het |
| Htr1d |
A |
G |
4: 136,170,197 (GRCm39) |
E142G |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,282,264 (GRCm39) |
|
probably null |
Het |
| Il1r1 |
T |
A |
1: 40,332,455 (GRCm39) |
N81K |
probably benign |
Het |
| Inpp5b |
T |
C |
4: 124,677,760 (GRCm39) |
S407P |
probably damaging |
Het |
| Itpkb |
T |
C |
1: 180,245,780 (GRCm39) |
Y766H |
probably damaging |
Het |
| Lyrm2 |
T |
A |
4: 32,801,150 (GRCm39) |
I65N |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,500,086 (GRCm39) |
|
probably null |
Het |
| Mkrn3 |
C |
T |
7: 62,069,452 (GRCm39) |
R113H |
probably damaging |
Het |
| Msx3 |
G |
A |
7: 139,627,798 (GRCm39) |
A157V |
probably damaging |
Het |
| Nrxn2 |
T |
G |
19: 6,548,484 (GRCm39) |
V59G |
possibly damaging |
Het |
| Nt5c3b |
T |
C |
11: 100,331,732 (GRCm39) |
T12A |
probably benign |
Het |
| Nwd2 |
G |
A |
5: 63,965,594 (GRCm39) |
R1726Q |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,107,625 (GRCm39) |
T911A |
probably benign |
Het |
| Or11i1 |
T |
A |
3: 106,728,996 (GRCm39) |
Y293F |
probably damaging |
Het |
| Or4p18 |
T |
C |
2: 88,233,267 (GRCm39) |
T4A |
probably benign |
Het |
| Or51aa5 |
A |
G |
7: 103,167,030 (GRCm39) |
I187T |
possibly damaging |
Het |
| Or51af1 |
C |
T |
7: 103,141,267 (GRCm39) |
V273M |
possibly damaging |
Het |
| Or52n20 |
C |
T |
7: 104,320,200 (GRCm39) |
T97I |
probably benign |
Het |
| Or5p66 |
A |
G |
7: 107,885,520 (GRCm39) |
M271T |
probably benign |
Het |
| Or6c212 |
A |
G |
10: 129,558,792 (GRCm39) |
I207T |
probably benign |
Het |
| Patl1 |
G |
T |
19: 11,899,869 (GRCm39) |
M220I |
probably benign |
Het |
| Pcnx2 |
A |
T |
8: 126,554,780 (GRCm39) |
|
probably null |
Het |
| Pigr |
A |
T |
1: 130,774,291 (GRCm39) |
T424S |
probably damaging |
Het |
| Pik3c2b |
T |
A |
1: 132,994,787 (GRCm39) |
D250E |
probably benign |
Het |
| Ppa2 |
G |
A |
3: 133,076,186 (GRCm39) |
E272K |
probably benign |
Het |
| Pramel7 |
G |
A |
2: 87,321,187 (GRCm39) |
Q283* |
probably null |
Het |
| Prelid3b |
A |
G |
2: 174,307,683 (GRCm39) |
I81T |
probably benign |
Het |
| Prpf38a |
T |
C |
4: 108,436,242 (GRCm39) |
I24V |
possibly damaging |
Het |
| Ptger2 |
A |
G |
14: 45,239,295 (GRCm39) |
D311G |
possibly damaging |
Het |
| Rab4b |
A |
T |
7: 26,872,191 (GRCm39) |
|
probably benign |
Het |
| Rad17 |
A |
C |
13: 100,755,637 (GRCm39) |
D581E |
probably damaging |
Het |
| Samd11 |
T |
C |
4: 156,333,230 (GRCm39) |
T333A |
probably benign |
Het |
| Scaf4 |
C |
T |
16: 90,049,320 (GRCm39) |
D256N |
unknown |
Het |
| Serinc2 |
A |
G |
4: 130,157,438 (GRCm39) |
F82L |
probably benign |
Het |
| Serpina3g |
T |
A |
12: 104,205,372 (GRCm39) |
V37E |
probably damaging |
Het |
| Serpinb9c |
T |
A |
13: 33,334,254 (GRCm39) |
M263L |
probably benign |
Het |
| Shbg |
A |
G |
11: 69,508,326 (GRCm39) |
I67T |
possibly damaging |
Het |
| Slc25a48 |
G |
A |
13: 56,596,887 (GRCm39) |
|
probably null |
Het |
| Slc25a54 |
T |
C |
3: 109,005,923 (GRCm39) |
W144R |
probably damaging |
Het |
| Slc34a1 |
A |
T |
13: 55,561,397 (GRCm39) |
T621S |
probably benign |
Het |
| Slc6a18 |
A |
T |
13: 73,814,554 (GRCm39) |
C419S |
probably benign |
Het |
| Smc5 |
A |
T |
19: 23,220,069 (GRCm39) |
D389E |
probably benign |
Het |
| Smco3 |
T |
A |
6: 136,808,636 (GRCm39) |
E79D |
probably damaging |
Het |
| Sox5 |
A |
G |
6: 143,906,561 (GRCm39) |
F298S |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,256,838 (GRCm39) |
S304P |
probably benign |
Het |
| Tcea2 |
C |
T |
2: 181,328,514 (GRCm39) |
T211I |
probably damaging |
Het |
| Tcf4 |
G |
T |
18: 69,697,226 (GRCm39) |
S34I |
possibly damaging |
Het |
| Tlr4 |
C |
T |
4: 66,759,435 (GRCm39) |
R743C |
probably damaging |
Het |
| Tmem183a |
T |
C |
1: 134,288,620 (GRCm39) |
E67G |
probably damaging |
Het |
| Tpr |
C |
T |
1: 150,317,947 (GRCm39) |
R2152C |
possibly damaging |
Het |
| Trbv15 |
T |
C |
6: 41,118,358 (GRCm39) |
I38T |
probably benign |
Het |
| Treh |
G |
A |
9: 44,592,849 (GRCm39) |
A125T |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,752,875 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,782,293 (GRCm39) |
V981A |
probably damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,252,732 (GRCm39) |
L436P |
probably damaging |
Het |
| Uba7 |
A |
T |
9: 107,854,115 (GRCm39) |
I182F |
possibly damaging |
Het |
| Unc13c |
A |
T |
9: 73,600,620 (GRCm39) |
S1375T |
probably benign |
Het |
| Usp48 |
C |
CT |
4: 137,360,680 (GRCm39) |
|
probably null |
Het |
| Utp20 |
A |
C |
10: 88,652,780 (GRCm39) |
V378G |
possibly damaging |
Het |
| Vmn1r69 |
A |
T |
7: 10,314,926 (GRCm39) |
|
probably benign |
Het |
| Vmn1r86 |
A |
T |
7: 12,836,221 (GRCm39) |
H218Q |
probably damaging |
Het |
| Vmn2r121 |
T |
A |
X: 123,038,335 (GRCm39) |
I562L |
probably benign |
Het |
| Vmn2r45 |
A |
T |
7: 8,486,472 (GRCm39) |
I272N |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,078,424 (GRCm39) |
V320A |
probably benign |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,367 (GRCm39) |
V319A |
possibly damaging |
Het |
| Whamm |
A |
G |
7: 81,221,122 (GRCm39) |
D18G |
probably benign |
Het |
| Wrn |
T |
A |
8: 33,775,250 (GRCm39) |
I605F |
probably damaging |
Het |
| Zdhhc18 |
A |
G |
4: 133,341,178 (GRCm39) |
F232L |
probably damaging |
Het |
| Zfp41 |
T |
C |
15: 75,490,609 (GRCm39) |
I187T |
probably benign |
Het |
| Zfp418 |
A |
G |
7: 7,185,561 (GRCm39) |
Y508C |
probably damaging |
Het |
| Zfp560 |
T |
G |
9: 20,260,347 (GRCm39) |
I172L |
probably benign |
Het |
| Zfp943 |
A |
T |
17: 22,211,391 (GRCm39) |
D159V |
probably benign |
Het |
| Zfp955a |
T |
C |
17: 33,460,696 (GRCm39) |
I479V |
probably benign |
Het |
| Zfpm1 |
T |
A |
8: 123,062,219 (GRCm39) |
V426D |
probably benign |
Het |
| Zic1 |
C |
T |
9: 91,246,558 (GRCm39) |
M171I |
possibly damaging |
Het |
|
| Other mutations in Dsp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Dsp
|
APN |
13 |
38,381,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01337:Dsp
|
APN |
13 |
38,376,663 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01371:Dsp
|
APN |
13 |
38,377,593 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01473:Dsp
|
APN |
13 |
38,351,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01660:Dsp
|
APN |
13 |
38,360,471 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01723:Dsp
|
APN |
13 |
38,363,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01999:Dsp
|
APN |
13 |
38,365,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02313:Dsp
|
APN |
13 |
38,380,499 (GRCm39) |
nonsense |
probably null |
|
|
IGL02833:Dsp
|
APN |
13 |
38,376,897 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03050:Dsp
|
APN |
13 |
38,372,421 (GRCm39) |
splice site |
probably benign |
|
|
IGL03353:Dsp
|
APN |
13 |
38,370,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Dsp
|
UTSW |
13 |
38,381,340 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0052:Dsp
|
UTSW |
13 |
38,381,340 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0078:Dsp
|
UTSW |
13 |
38,379,993 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0230:Dsp
|
UTSW |
13 |
38,381,681 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0234:Dsp
|
UTSW |
13 |
38,371,869 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0234:Dsp
|
UTSW |
13 |
38,371,869 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0285:Dsp
|
UTSW |
13 |
38,356,770 (GRCm39) |
missense |
probably benign |
|
|
R0326:Dsp
|
UTSW |
13 |
38,376,846 (GRCm39) |
nonsense |
probably null |
|
|
R0332:Dsp
|
UTSW |
13 |
38,366,204 (GRCm39) |
nonsense |
probably null |
|
|
R0471:Dsp
|
UTSW |
13 |
38,377,326 (GRCm39) |
nonsense |
probably null |
|
|
R0567:Dsp
|
UTSW |
13 |
38,376,414 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0611:Dsp
|
UTSW |
13 |
38,371,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0718:Dsp
|
UTSW |
13 |
38,380,740 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0926:Dsp
|
UTSW |
13 |
38,367,194 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1078:Dsp
|
UTSW |
13 |
38,367,082 (GRCm39) |
splice site |
probably benign |
|
|
R1183:Dsp
|
UTSW |
13 |
38,375,716 (GRCm39) |
nonsense |
probably null |
|
|
R1188:Dsp
|
UTSW |
13 |
38,378,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1419:Dsp
|
UTSW |
13 |
38,370,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1445:Dsp
|
UTSW |
13 |
38,375,907 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1467:Dsp
|
UTSW |
13 |
38,376,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1467:Dsp
|
UTSW |
13 |
38,376,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1478:Dsp
|
UTSW |
13 |
38,365,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1568:Dsp
|
UTSW |
13 |
38,359,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Dsp
|
UTSW |
13 |
38,379,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Dsp
|
UTSW |
13 |
38,377,350 (GRCm39) |
nonsense |
probably null |
|
|
R1736:Dsp
|
UTSW |
13 |
38,376,966 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1776:Dsp
|
UTSW |
13 |
38,380,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1829:Dsp
|
UTSW |
13 |
38,377,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1878:Dsp
|
UTSW |
13 |
38,348,831 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2013:Dsp
|
UTSW |
13 |
38,375,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2161:Dsp
|
UTSW |
13 |
38,380,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2187:Dsp
|
UTSW |
13 |
38,360,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2295:Dsp
|
UTSW |
13 |
38,381,022 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2495:Dsp
|
UTSW |
13 |
38,377,453 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2566:Dsp
|
UTSW |
13 |
38,380,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2888:Dsp
|
UTSW |
13 |
38,376,224 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3012:Dsp
|
UTSW |
13 |
38,377,318 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3614:Dsp
|
UTSW |
13 |
38,361,175 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3725:Dsp
|
UTSW |
13 |
38,381,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3725:Dsp
|
UTSW |
13 |
38,378,665 (GRCm39) |
splice site |
probably null |
|
|
R3797:Dsp
|
UTSW |
13 |
38,361,260 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3841:Dsp
|
UTSW |
13 |
38,381,681 (GRCm39) |
missense |
probably benign |
|
|
R4030:Dsp
|
UTSW |
13 |
38,375,404 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4124:Dsp
|
UTSW |
13 |
38,370,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4279:Dsp
|
UTSW |
13 |
38,369,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4334:Dsp
|
UTSW |
13 |
38,380,640 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4419:Dsp
|
UTSW |
13 |
38,379,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4615:Dsp
|
UTSW |
13 |
38,375,608 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4627:Dsp
|
UTSW |
13 |
38,352,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4639:Dsp
|
UTSW |
13 |
38,380,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4687:Dsp
|
UTSW |
13 |
38,375,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4746:Dsp
|
UTSW |
13 |
38,379,080 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4772:Dsp
|
UTSW |
13 |
38,351,504 (GRCm39) |
nonsense |
probably null |
|
|
R4830:Dsp
|
UTSW |
13 |
38,376,840 (GRCm39) |
missense |
probably benign |
|
|
R4850:Dsp
|
UTSW |
13 |
38,376,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4959:Dsp
|
UTSW |
13 |
38,375,686 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4963:Dsp
|
UTSW |
13 |
38,381,846 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4969:Dsp
|
UTSW |
13 |
38,376,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4978:Dsp
|
UTSW |
13 |
38,366,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Dsp
|
UTSW |
13 |
38,381,678 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5068:Dsp
|
UTSW |
13 |
38,381,099 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5069:Dsp
|
UTSW |
13 |
38,381,099 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5070:Dsp
|
UTSW |
13 |
38,381,099 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5133:Dsp
|
UTSW |
13 |
38,381,678 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5138:Dsp
|
UTSW |
13 |
38,379,821 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5138:Dsp
|
UTSW |
13 |
38,367,274 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5153:Dsp
|
UTSW |
13 |
38,366,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5199:Dsp
|
UTSW |
13 |
38,376,878 (GRCm39) |
nonsense |
probably null |
|
|
R5226:Dsp
|
UTSW |
13 |
38,370,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5265:Dsp
|
UTSW |
13 |
38,379,159 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5371:Dsp
|
UTSW |
13 |
38,378,865 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5484:Dsp
|
UTSW |
13 |
38,368,014 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5534:Dsp
|
UTSW |
13 |
38,379,818 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5569:Dsp
|
UTSW |
13 |
38,376,628 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5854:Dsp
|
UTSW |
13 |
38,351,477 (GRCm39) |
splice site |
probably null |
|
|
R5910:Dsp
|
UTSW |
13 |
38,376,445 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5929:Dsp
|
UTSW |
13 |
38,379,410 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5940:Dsp
|
UTSW |
13 |
38,380,002 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5948:Dsp
|
UTSW |
13 |
38,379,377 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5955:Dsp
|
UTSW |
13 |
38,378,934 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5970:Dsp
|
UTSW |
13 |
38,379,678 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6054:Dsp
|
UTSW |
13 |
38,351,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6113:Dsp
|
UTSW |
13 |
38,376,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Dsp
|
UTSW |
13 |
38,376,382 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6328:Dsp
|
UTSW |
13 |
38,380,982 (GRCm39) |
nonsense |
probably null |
|
|
R6527:Dsp
|
UTSW |
13 |
38,379,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6573:Dsp
|
UTSW |
13 |
38,380,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6628:Dsp
|
UTSW |
13 |
38,351,598 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6738:Dsp
|
UTSW |
13 |
38,376,186 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6898:Dsp
|
UTSW |
13 |
38,376,193 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6919:Dsp
|
UTSW |
13 |
38,351,631 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6951:Dsp
|
UTSW |
13 |
38,351,622 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7017:Dsp
|
UTSW |
13 |
38,370,683 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7022:Dsp
|
UTSW |
13 |
38,375,716 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7135:Dsp
|
UTSW |
13 |
38,363,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7192:Dsp
|
UTSW |
13 |
38,379,569 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7211:Dsp
|
UTSW |
13 |
38,372,511 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7251:Dsp
|
UTSW |
13 |
38,377,524 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7326:Dsp
|
UTSW |
13 |
38,376,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7369:Dsp
|
UTSW |
13 |
38,381,501 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7376:Dsp
|
UTSW |
13 |
38,356,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7406:Dsp
|
UTSW |
13 |
38,381,172 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7439:Dsp
|
UTSW |
13 |
38,379,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7439:Dsp
|
UTSW |
13 |
38,360,478 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7441:Dsp
|
UTSW |
13 |
38,379,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7477:Dsp
|
UTSW |
13 |
38,356,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7535:Dsp
|
UTSW |
13 |
38,376,765 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7558:Dsp
|
UTSW |
13 |
38,352,742 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7600:Dsp
|
UTSW |
13 |
38,375,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7616:Dsp
|
UTSW |
13 |
38,375,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7702:Dsp
|
UTSW |
13 |
38,359,183 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7738:Dsp
|
UTSW |
13 |
38,369,151 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7815:Dsp
|
UTSW |
13 |
38,375,446 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7882:Dsp
|
UTSW |
13 |
38,367,994 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7917:Dsp
|
UTSW |
13 |
38,351,615 (GRCm39) |
nonsense |
probably null |
|
|
R7971:Dsp
|
UTSW |
13 |
38,376,499 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8104:Dsp
|
UTSW |
13 |
38,352,600 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8176:Dsp
|
UTSW |
13 |
38,376,786 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8303:Dsp
|
UTSW |
13 |
38,381,319 (GRCm39) |
missense |
probably benign |
|
|
R8323:Dsp
|
UTSW |
13 |
38,356,806 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8326:Dsp
|
UTSW |
13 |
38,375,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8358:Dsp
|
UTSW |
13 |
38,376,457 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8410:Dsp
|
UTSW |
13 |
38,380,791 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8552:Dsp
|
UTSW |
13 |
38,369,117 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8713:Dsp
|
UTSW |
13 |
38,352,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8801:Dsp
|
UTSW |
13 |
38,381,502 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8900:Dsp
|
UTSW |
13 |
38,365,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8901:Dsp
|
UTSW |
13 |
38,365,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8968:Dsp
|
UTSW |
13 |
38,335,596 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9014:Dsp
|
UTSW |
13 |
38,376,700 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9021:Dsp
|
UTSW |
13 |
38,380,808 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9030:Dsp
|
UTSW |
13 |
38,352,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9124:Dsp
|
UTSW |
13 |
38,377,276 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9129:Dsp
|
UTSW |
13 |
38,377,126 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9143:Dsp
|
UTSW |
13 |
38,377,337 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9450:Dsp
|
UTSW |
13 |
38,376,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9488:Dsp
|
UTSW |
13 |
38,377,218 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9514:Dsp
|
UTSW |
13 |
38,371,781 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9789:Dsp
|
UTSW |
13 |
38,367,937 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9792:Dsp
|
UTSW |
13 |
38,379,494 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0023:Dsp
|
UTSW |
13 |
38,381,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0024:Dsp
|
UTSW |
13 |
38,377,231 (GRCm39) |
missense |
probably benign |
0.04 |
|
X0027:Dsp
|
UTSW |
13 |
38,370,622 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
X0067:Dsp
|
UTSW |
13 |
38,366,288 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Dsp
|
UTSW |
13 |
38,381,166 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1177:Dsp
|
UTSW |
13 |
38,376,830 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Dsp
|
UTSW |
13 |
38,335,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCAAGAAGAAGGTCAGC -3'
(R):5'- CCTTAAATTGCTGACGGGATCC -3'
Sequencing Primer
(F):5'- AGGTCAGCTACATGCAGC -3'
(R):5'- TTGCTGACGGGATCCACAATAAAG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation