Incidental Mutation 'R4612:Dsc2'
| ID |
344891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dsc2
|
| Ensembl Gene |
ENSMUSG00000024331 |
| Gene Name |
desmocollin 2 |
| Synonyms |
Dsc2a, Dsc2b |
| MMRRC Submission |
041823-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4612 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
20163690-20192611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20174876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 466
(D466E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039247]
[ENSMUST00000075214]
[ENSMUST00000128464]
|
| AlphaFold |
P55292 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039247
AA Change: D466E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042905
Gene: ENSMUSG00000024331
AA Change: D466E
| Domain | Start | End | E-Value | Type |
|---|
|
Cadherin_pro
|
31 |
113 |
2.82e-37 |
SMART |
|
CA
|
156 |
241 |
4.66e-11 |
SMART |
|
CA
|
265 |
353 |
1.87e-24 |
SMART |
|
low complexity region
|
358 |
372 |
N/A |
INTRINSIC |
|
CA
|
376 |
470 |
1.27e-12 |
SMART |
|
CA
|
493 |
575 |
4.14e-17 |
SMART |
|
CA
|
594 |
676 |
1.49e-1 |
SMART |
|
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075214
AA Change: D466E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074702
Gene: ENSMUSG00000024331
AA Change: D466E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Cadherin_pro
|
31 |
113 |
2.82e-37 |
SMART |
|
CA
|
156 |
241 |
4.66e-11 |
SMART |
|
CA
|
265 |
353 |
1.87e-24 |
SMART |
|
low complexity region
|
358 |
372 |
N/A |
INTRINSIC |
|
CA
|
376 |
470 |
1.27e-12 |
SMART |
|
CA
|
493 |
575 |
4.14e-17 |
SMART |
|
CA
|
594 |
676 |
1.49e-1 |
SMART |
|
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
730 |
901 |
3.7e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128464
|
| SMART Domains |
Protein: ENSMUSP00000123010
Gene: ENSMUSG00000024331
| Domain | Start | End | E-Value | Type |
|---|
|
Cadherin_pro
|
31 |
113 |
2.82e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155407
|
| SMART Domains |
Protein: ENSMUSP00000116063
Gene: ENSMUSG00000024331
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l3wa5
|
2 |
71 |
2e-3 |
SMART |
|
Blast:CA
|
2 |
76 |
2e-47 |
BLAST |
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the desmocollin protein subfamily. Desmocollins are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 109 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019D03Rik |
T |
C |
1: 52,964,635 (GRCm39) |
D31G |
probably benign |
Het |
| 5730455P16Rik |
A |
T |
11: 80,268,806 (GRCm39) |
M1K |
probably null |
Het |
| Abca15 |
A |
G |
7: 119,934,384 (GRCm39) |
D120G |
probably benign |
Het |
| Adam26a |
A |
T |
8: 44,021,830 (GRCm39) |
N553K |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,362,752 (GRCm39) |
C558S |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,587 (GRCm39) |
F212L |
probably benign |
Het |
| Adam39 |
A |
T |
8: 41,278,958 (GRCm39) |
S450C |
probably damaging |
Het |
| Agap2 |
A |
T |
10: 126,915,965 (GRCm39) |
T159S |
unknown |
Het |
| Ahnak |
G |
A |
19: 8,981,088 (GRCm39) |
V791I |
probably benign |
Het |
| Ak7 |
T |
G |
12: 105,727,772 (GRCm39) |
L468R |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,304,456 (GRCm39) |
D422G |
probably damaging |
Het |
| Antxr1 |
T |
A |
6: 87,265,155 (GRCm39) |
I129F |
probably damaging |
Het |
| Arhgap32 |
G |
A |
9: 32,170,775 (GRCm39) |
G1185D |
probably damaging |
Het |
| Atf7ip2 |
A |
T |
16: 10,059,427 (GRCm39) |
E322D |
probably benign |
Het |
| Atg4b |
T |
C |
1: 93,714,263 (GRCm39) |
F349L |
probably damaging |
Het |
| Atp6v1c1 |
A |
G |
15: 38,677,856 (GRCm39) |
K127R |
probably damaging |
Het |
| Atxn1l |
C |
T |
8: 110,458,736 (GRCm39) |
V509M |
possibly damaging |
Het |
| B3glct |
T |
A |
5: 149,663,022 (GRCm39) |
I260N |
probably damaging |
Het |
| Bcl2l12 |
G |
A |
7: 44,646,009 (GRCm39) |
P70L |
probably damaging |
Het |
| Bok |
T |
A |
1: 93,621,900 (GRCm39) |
F157L |
probably damaging |
Het |
| Bves |
G |
A |
10: 45,215,373 (GRCm39) |
G16D |
probably benign |
Het |
| Cacna1b |
T |
A |
2: 24,516,864 (GRCm39) |
K65* |
probably null |
Het |
| Casc3 |
A |
G |
11: 98,713,784 (GRCm39) |
T339A |
probably benign |
Het |
| Ccdc18 |
C |
T |
5: 108,283,307 (GRCm39) |
S6L |
probably benign |
Het |
| Cd86 |
A |
G |
16: 36,435,692 (GRCm39) |
Y242H |
probably benign |
Het |
| Chd3 |
A |
C |
11: 69,244,035 (GRCm39) |
Y1249* |
probably null |
Het |
| Chrne |
T |
C |
11: 70,507,848 (GRCm39) |
T284A |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,523,339 (GRCm39) |
D2746G |
probably damaging |
Het |
| Cryaa |
T |
A |
17: 31,897,448 (GRCm39) |
M72K |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 15,971,908 (GRCm39) |
|
probably null |
Het |
| Det1 |
A |
T |
7: 78,493,454 (GRCm39) |
N183K |
probably damaging |
Het |
| Dis3 |
C |
A |
14: 99,328,871 (GRCm39) |
V294L |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,374,193 (GRCm39) |
L1493F |
possibly damaging |
Het |
| Dsg4 |
T |
A |
18: 20,595,470 (GRCm39) |
S558T |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,772,403 (GRCm39) |
L422* |
probably null |
Het |
| Elp6 |
T |
C |
9: 110,143,087 (GRCm39) |
F100S |
probably damaging |
Het |
| Epg5 |
C |
T |
18: 78,025,629 (GRCm39) |
T1224I |
possibly damaging |
Het |
| Exoc1l |
A |
T |
5: 76,664,345 (GRCm39) |
N145Y |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,434,087 (GRCm39) |
I390N |
probably benign |
Het |
| Fam110c |
A |
G |
12: 31,124,655 (GRCm39) |
T206A |
unknown |
Het |
| Fam187b |
G |
A |
7: 30,676,518 (GRCm39) |
G9D |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,478,184 (GRCm39) |
D2410G |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,122,760 (GRCm39) |
F390Y |
probably benign |
Het |
| Fgg |
A |
G |
3: 82,917,397 (GRCm39) |
N142S |
probably damaging |
Het |
| Fhip1a |
G |
A |
3: 85,637,679 (GRCm39) |
R207* |
probably null |
Het |
| Flcn |
T |
C |
11: 59,683,513 (GRCm39) |
T555A |
probably damaging |
Het |
| Foxq1 |
G |
T |
13: 31,742,808 (GRCm39) |
|
probably benign |
Het |
| Gm3233 |
A |
T |
10: 77,595,498 (GRCm39) |
|
probably benign |
Het |
| Gprc5a |
G |
A |
6: 135,055,927 (GRCm39) |
V125I |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,639,358 (GRCm39) |
D218G |
probably damaging |
Het |
| Gtf3c5 |
C |
T |
2: 28,469,596 (GRCm39) |
A103T |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,266,886 (GRCm39) |
T1964A |
possibly damaging |
Het |
| Htatip2 |
G |
T |
7: 49,422,345 (GRCm39) |
E188* |
probably null |
Het |
| Ifna13 |
T |
G |
4: 88,562,113 (GRCm39) |
E170D |
probably damaging |
Het |
| Il4ra |
A |
G |
7: 125,175,255 (GRCm39) |
T488A |
probably benign |
Het |
| Jup |
G |
T |
11: 100,272,660 (GRCm39) |
H251N |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,852,426 (GRCm39) |
|
probably null |
Het |
| Klhl28 |
T |
A |
12: 65,004,034 (GRCm39) |
I160L |
probably damaging |
Het |
| Klk1b5 |
A |
T |
7: 43,494,696 (GRCm39) |
T60S |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,950,706 (GRCm39) |
R1995G |
probably damaging |
Het |
| Lrig2 |
A |
C |
3: 104,370,099 (GRCm39) |
I844M |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,288,771 (GRCm39) |
W3698* |
probably null |
Het |
| Lyar |
T |
A |
5: 38,382,053 (GRCm39) |
S12T |
possibly damaging |
Het |
| Map3k19 |
T |
C |
1: 127,743,037 (GRCm39) |
K1507E |
probably benign |
Het |
| Mre11a |
G |
A |
9: 14,714,199 (GRCm39) |
G267R |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,980,717 (GRCm39) |
Q473R |
probably damaging |
Het |
| Ncald |
T |
A |
15: 37,397,593 (GRCm39) |
E29V |
probably benign |
Het |
| Neb |
T |
C |
2: 52,177,255 (GRCm39) |
D1362G |
probably damaging |
Het |
| Nme2 |
T |
C |
11: 93,846,428 (GRCm39) |
T7A |
possibly damaging |
Het |
| Nod2 |
T |
A |
8: 89,391,664 (GRCm39) |
L657Q |
possibly damaging |
Het |
| Nrm |
T |
A |
17: 36,174,421 (GRCm39) |
V75E |
probably benign |
Het |
| Ogfod1 |
A |
C |
8: 94,763,975 (GRCm39) |
K20T |
possibly damaging |
Het |
| Omp |
T |
C |
7: 97,794,348 (GRCm39) |
N93S |
probably damaging |
Het |
| Or10h28 |
T |
A |
17: 33,488,454 (GRCm39) |
V252E |
probably benign |
Het |
| Or14a256 |
T |
A |
7: 86,264,944 (GRCm39) |
Q303L |
probably benign |
Het |
| Or5h27 |
T |
C |
16: 59,006,674 (GRCm39) |
I57M |
probably damaging |
Het |
| Pcdhb15 |
A |
C |
18: 37,608,648 (GRCm39) |
T627P |
probably damaging |
Het |
| Pld1 |
A |
G |
3: 28,185,882 (GRCm39) |
T1036A |
possibly damaging |
Het |
| Pogk |
C |
A |
1: 166,226,334 (GRCm39) |
E606* |
probably null |
Het |
| Ppp1r10 |
T |
A |
17: 36,238,823 (GRCm39) |
L292Q |
probably damaging |
Het |
| Prpf6 |
T |
C |
2: 181,273,872 (GRCm39) |
C339R |
possibly damaging |
Het |
| Psd |
T |
A |
19: 46,301,778 (GRCm39) |
D937V |
probably benign |
Het |
| Rbak |
T |
C |
5: 143,160,222 (GRCm39) |
Q277R |
probably benign |
Het |
| Sbno1 |
T |
A |
5: 124,542,087 (GRCm39) |
Y355F |
probably damaging |
Het |
| Sec23ip |
C |
T |
7: 128,352,226 (GRCm39) |
Q201* |
probably null |
Het |
| Serpinb3a |
T |
C |
1: 106,975,337 (GRCm39) |
K157E |
probably damaging |
Het |
| Slc22a28 |
A |
T |
19: 8,078,770 (GRCm39) |
N306K |
probably damaging |
Het |
| Smarca2 |
C |
A |
19: 26,753,625 (GRCm39) |
D1584E |
possibly damaging |
Het |
| Snx29 |
C |
A |
16: 11,265,359 (GRCm39) |
Q530K |
probably damaging |
Het |
| Stard10 |
C |
A |
7: 100,994,877 (GRCm39) |
Q278K |
possibly damaging |
Het |
| Tgm2 |
C |
T |
2: 157,966,124 (GRCm39) |
C510Y |
probably benign |
Het |
| Tlr9 |
C |
T |
9: 106,101,006 (GRCm39) |
P99L |
probably damaging |
Het |
| Tmco4 |
T |
C |
4: 138,717,871 (GRCm39) |
W4R |
probably benign |
Het |
| Tmem151a |
T |
A |
19: 5,121,862 (GRCm39) |
|
probably benign |
Het |
| Tmem255b |
T |
C |
8: 13,504,228 (GRCm39) |
V140A |
probably benign |
Het |
| Trbj1-2 |
C |
T |
6: 41,510,950 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,781,750 (GRCm39) |
T290A |
probably damaging |
Het |
| Tsc22d1 |
G |
A |
14: 76,656,445 (GRCm39) |
E120K |
possibly damaging |
Het |
| Ttc29 |
A |
G |
8: 79,052,175 (GRCm39) |
D352G |
probably benign |
Het |
| Usp25 |
A |
T |
16: 76,830,833 (GRCm39) |
I30F |
possibly damaging |
Het |
| Usp34 |
A |
C |
11: 23,382,268 (GRCm39) |
N1993T |
probably damaging |
Het |
| Vmn2r124 |
A |
C |
17: 18,283,284 (GRCm39) |
H326P |
probably benign |
Het |
| Vmn2r92 |
C |
A |
17: 18,387,132 (GRCm39) |
T157K |
probably benign |
Het |
| Vstm5 |
A |
T |
9: 15,168,789 (GRCm39) |
I118F |
probably benign |
Het |
| Vwa7 |
T |
C |
17: 35,242,426 (GRCm39) |
V510A |
probably damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,462,123 (GRCm39) |
S1266N |
probably damaging |
Het |
| Zfp763 |
T |
A |
17: 33,237,922 (GRCm39) |
N408Y |
probably benign |
Het |
| Zswim5 |
C |
T |
4: 116,843,901 (GRCm39) |
H980Y |
probably damaging |
Het |
|
| Other mutations in Dsc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00802:Dsc2
|
APN |
18 |
20,174,854 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00826:Dsc2
|
APN |
18 |
20,168,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00852:Dsc2
|
APN |
18 |
20,167,740 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01082:Dsc2
|
APN |
18 |
20,176,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01328:Dsc2
|
APN |
18 |
20,181,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01338:Dsc2
|
APN |
18 |
20,180,214 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01727:Dsc2
|
APN |
18 |
20,171,257 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01766:Dsc2
|
APN |
18 |
20,179,399 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02228:Dsc2
|
APN |
18 |
20,176,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02560:Dsc2
|
APN |
18 |
20,178,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02794:Dsc2
|
APN |
18 |
20,174,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Dsc2
|
UTSW |
18 |
20,180,136 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
PIT4305001:Dsc2
|
UTSW |
18 |
20,179,300 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4431001:Dsc2
|
UTSW |
18 |
20,179,334 (GRCm39) |
nonsense |
probably null |
|
|
R0288:Dsc2
|
UTSW |
18 |
20,166,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Dsc2
|
UTSW |
18 |
20,184,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0562:Dsc2
|
UTSW |
18 |
20,174,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0697:Dsc2
|
UTSW |
18 |
20,174,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0940:Dsc2
|
UTSW |
18 |
20,183,116 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1081:Dsc2
|
UTSW |
18 |
20,166,352 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1140:Dsc2
|
UTSW |
18 |
20,165,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1515:Dsc2
|
UTSW |
18 |
20,178,622 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1515:Dsc2
|
UTSW |
18 |
20,167,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1558:Dsc2
|
UTSW |
18 |
20,183,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1654:Dsc2
|
UTSW |
18 |
20,179,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2061:Dsc2
|
UTSW |
18 |
20,165,456 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2089:Dsc2
|
UTSW |
18 |
20,166,351 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2091:Dsc2
|
UTSW |
18 |
20,166,351 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2091:Dsc2
|
UTSW |
18 |
20,166,351 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2172:Dsc2
|
UTSW |
18 |
20,178,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2247:Dsc2
|
UTSW |
18 |
20,168,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2472:Dsc2
|
UTSW |
18 |
20,178,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2927:Dsc2
|
UTSW |
18 |
20,178,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3611:Dsc2
|
UTSW |
18 |
20,165,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3961:Dsc2
|
UTSW |
18 |
20,184,284 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3963:Dsc2
|
UTSW |
18 |
20,184,284 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4353:Dsc2
|
UTSW |
18 |
20,183,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4362:Dsc2
|
UTSW |
18 |
20,183,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:Dsc2
|
UTSW |
18 |
20,174,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4752:Dsc2
|
UTSW |
18 |
20,171,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4946:Dsc2
|
UTSW |
18 |
20,183,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5056:Dsc2
|
UTSW |
18 |
20,183,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Dsc2
|
UTSW |
18 |
20,167,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5445:Dsc2
|
UTSW |
18 |
20,168,360 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5507:Dsc2
|
UTSW |
18 |
20,179,336 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5575:Dsc2
|
UTSW |
18 |
20,168,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5781:Dsc2
|
UTSW |
18 |
20,165,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6102:Dsc2
|
UTSW |
18 |
20,180,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6129:Dsc2
|
UTSW |
18 |
20,178,487 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6362:Dsc2
|
UTSW |
18 |
20,168,520 (GRCm39) |
nonsense |
probably null |
|
|
R6433:Dsc2
|
UTSW |
18 |
20,184,232 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6513:Dsc2
|
UTSW |
18 |
20,179,295 (GRCm39) |
missense |
probably benign |
|
|
R6615:Dsc2
|
UTSW |
18 |
20,165,576 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6619:Dsc2
|
UTSW |
18 |
20,165,335 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6665:Dsc2
|
UTSW |
18 |
20,183,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6961:Dsc2
|
UTSW |
18 |
20,171,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Dsc2
|
UTSW |
18 |
20,168,332 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7275:Dsc2
|
UTSW |
18 |
20,184,236 (GRCm39) |
nonsense |
probably null |
|
|
R7352:Dsc2
|
UTSW |
18 |
20,168,392 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7386:Dsc2
|
UTSW |
18 |
20,174,983 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7496:Dsc2
|
UTSW |
18 |
20,168,451 (GRCm39) |
nonsense |
probably null |
|
|
R7510:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7580:Dsc2
|
UTSW |
18 |
20,183,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7718:Dsc2
|
UTSW |
18 |
20,174,835 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7733:Dsc2
|
UTSW |
18 |
20,181,373 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7733:Dsc2
|
UTSW |
18 |
20,181,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7818:Dsc2
|
UTSW |
18 |
20,183,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Dsc2
|
UTSW |
18 |
20,179,342 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7998:Dsc2
|
UTSW |
18 |
20,167,720 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8029:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8030:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8031:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8032:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8059:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8060:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8061:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8062:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8063:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8082:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8090:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8114:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8115:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8116:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8117:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8118:Dsc2
|
UTSW |
18 |
20,165,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8328:Dsc2
|
UTSW |
18 |
20,165,576 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8545:Dsc2
|
UTSW |
18 |
20,167,722 (GRCm39) |
nonsense |
probably null |
|
|
R9005:Dsc2
|
UTSW |
18 |
20,171,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9017:Dsc2
|
UTSW |
18 |
20,176,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9111:Dsc2
|
UTSW |
18 |
20,167,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9396:Dsc2
|
UTSW |
18 |
20,174,773 (GRCm39) |
nonsense |
probably null |
|
|
R9487:Dsc2
|
UTSW |
18 |
20,180,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9663:Dsc2
|
UTSW |
18 |
20,171,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Dsc2
|
UTSW |
18 |
20,179,361 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Dsc2
|
UTSW |
18 |
20,168,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTAACCACAGTGAAGGAACAC -3'
(R):5'- TAATGCACTTCACCACCTGG -3'
Sequencing Primer
(F):5'- ACACAAGAAGTATCATGAGTCAAATC -3'
(R):5'- GGTCATCTACGTATTTCTTGTAGC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation