Incidental Mutation 'R4735:Trio'
| ID |
356522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trio
|
| Ensembl Gene |
ENSMUSG00000022263 |
| Gene Name |
triple functional domain (PTPRF interacting) |
| Synonyms |
Solo, 6720464I07Rik |
| MMRRC Submission |
041962-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4735 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
27730737-28025934 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 27752875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090247]
[ENSMUST00000226644]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090247
|
| SMART Domains |
Protein: ENSMUSP00000087714
Gene: ENSMUSG00000022263
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
40 |
N/A |
INTRINSIC |
|
SEC14
|
68 |
207 |
3.4e-26 |
SMART |
|
SPEC
|
221 |
337 |
2.48e-9 |
SMART |
|
SPEC
|
343 |
445 |
1.92e-15 |
SMART |
|
SPEC
|
569 |
671 |
5.35e-14 |
SMART |
|
SPEC
|
674 |
783 |
1.18e-6 |
SMART |
|
SPEC
|
910 |
1011 |
2.6e-12 |
SMART |
|
SPEC
|
1141 |
1243 |
7e-18 |
SMART |
|
low complexity region
|
1249 |
1258 |
N/A |
INTRINSIC |
|
RhoGEF
|
1296 |
1466 |
2.79e-53 |
SMART |
|
PH
|
1480 |
1593 |
1.53e-9 |
SMART |
|
SH3
|
1659 |
1720 |
1.9e-8 |
SMART |
|
low complexity region
|
1788 |
1802 |
N/A |
INTRINSIC |
|
low complexity region
|
1837 |
1863 |
N/A |
INTRINSIC |
|
low complexity region
|
1936 |
1954 |
N/A |
INTRINSIC |
|
RhoGEF
|
1973 |
2144 |
1.32e-63 |
SMART |
|
PH
|
2158 |
2273 |
3.6e-6 |
SMART |
|
low complexity region
|
2291 |
2341 |
N/A |
INTRINSIC |
|
low complexity region
|
2371 |
2390 |
N/A |
INTRINSIC |
|
low complexity region
|
2491 |
2503 |
N/A |
INTRINSIC |
|
SH3
|
2558 |
2619 |
1.04e0 |
SMART |
|
low complexity region
|
2640 |
2660 |
N/A |
INTRINSIC |
|
IGc2
|
2701 |
2770 |
4e-12 |
SMART |
|
S_TKc
|
2800 |
3054 |
4.84e-72 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226644
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227030
|
| 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 large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb. [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 |
| Dsp |
T |
C |
13: 38,380,016 (GRCm39) |
S1655P |
probably damaging |
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 |
| 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 Trio |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00480:Trio
|
APN |
15 |
27,912,829 (GRCm39) |
splice site |
probably benign |
|
|
IGL01011:Trio
|
APN |
15 |
27,736,575 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01090:Trio
|
APN |
15 |
27,773,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01145:Trio
|
APN |
15 |
27,818,253 (GRCm39) |
splice site |
probably benign |
|
|
IGL01147:Trio
|
APN |
15 |
27,881,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01161:Trio
|
APN |
15 |
27,749,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01324:Trio
|
APN |
15 |
27,905,409 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL01352:Trio
|
APN |
15 |
27,901,315 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01366:Trio
|
APN |
15 |
27,732,954 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01443:Trio
|
APN |
15 |
27,838,861 (GRCm39) |
splice site |
probably benign |
|
|
IGL01454:Trio
|
APN |
15 |
27,833,071 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01695:Trio
|
APN |
15 |
27,773,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01765:Trio
|
APN |
15 |
27,764,112 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01860:Trio
|
APN |
15 |
27,846,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01879:Trio
|
APN |
15 |
27,741,119 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01991:Trio
|
APN |
15 |
27,871,360 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02106:Trio
|
APN |
15 |
27,744,244 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02209:Trio
|
APN |
15 |
27,744,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02232:Trio
|
APN |
15 |
27,902,647 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02304:Trio
|
APN |
15 |
27,735,522 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02504:Trio
|
APN |
15 |
27,847,476 (GRCm39) |
nonsense |
probably null |
|
|
IGL02508:Trio
|
APN |
15 |
27,818,190 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02541:Trio
|
APN |
15 |
27,845,016 (GRCm39) |
splice site |
probably benign |
|
|
IGL02617:Trio
|
APN |
15 |
27,841,935 (GRCm39) |
splice site |
probably benign |
|
|
IGL02675:Trio
|
APN |
15 |
27,768,125 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02817:Trio
|
APN |
15 |
27,902,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02993:Trio
|
APN |
15 |
27,830,325 (GRCm39) |
splice site |
probably benign |
|
|
IGL03007:Trio
|
APN |
15 |
27,902,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03135:Trio
|
APN |
15 |
27,832,097 (GRCm39) |
splice site |
probably benign |
|
|
IGL03225:Trio
|
APN |
15 |
27,902,781 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0063:Trio
|
UTSW |
15 |
27,881,523 (GRCm39) |
splice site |
probably benign |
|
|
R0063:Trio
|
UTSW |
15 |
27,881,523 (GRCm39) |
splice site |
probably benign |
|
|
R0302:Trio
|
UTSW |
15 |
27,902,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Trio
|
UTSW |
15 |
27,767,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0506:Trio
|
UTSW |
15 |
27,855,049 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0564:Trio
|
UTSW |
15 |
27,805,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0659:Trio
|
UTSW |
15 |
27,831,485 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0882:Trio
|
UTSW |
15 |
27,732,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0939:Trio
|
UTSW |
15 |
27,741,336 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1018:Trio
|
UTSW |
15 |
27,871,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Trio
|
UTSW |
15 |
27,898,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Trio
|
UTSW |
15 |
27,753,890 (GRCm39) |
splice site |
probably benign |
|
|
R1488:Trio
|
UTSW |
15 |
27,741,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1522:Trio
|
UTSW |
15 |
27,732,726 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1531:Trio
|
UTSW |
15 |
27,833,071 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1640:Trio
|
UTSW |
15 |
27,833,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Trio
|
UTSW |
15 |
27,758,433 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1682:Trio
|
UTSW |
15 |
27,744,232 (GRCm39) |
splice site |
probably null |
|
|
R1780:Trio
|
UTSW |
15 |
27,744,124 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1791:Trio
|
UTSW |
15 |
27,841,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Trio
|
UTSW |
15 |
27,748,426 (GRCm39) |
missense |
probably benign |
|
|
R1817:Trio
|
UTSW |
15 |
27,742,581 (GRCm39) |
nonsense |
probably null |
|
|
R1853:Trio
|
UTSW |
15 |
27,756,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Trio
|
UTSW |
15 |
27,742,466 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1937:Trio
|
UTSW |
15 |
27,833,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Trio
|
UTSW |
15 |
27,732,977 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2025:Trio
|
UTSW |
15 |
27,774,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Trio
|
UTSW |
15 |
27,744,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2050:Trio
|
UTSW |
15 |
27,852,031 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2186:Trio
|
UTSW |
15 |
27,824,061 (GRCm39) |
splice site |
probably null |
|
|
R2913:Trio
|
UTSW |
15 |
27,854,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3151:Trio
|
UTSW |
15 |
27,805,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3771:Trio
|
UTSW |
15 |
27,748,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3773:Trio
|
UTSW |
15 |
27,748,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3826:Trio
|
UTSW |
15 |
27,833,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4015:Trio
|
UTSW |
15 |
27,744,187 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4359:Trio
|
UTSW |
15 |
27,749,883 (GRCm39) |
nonsense |
probably null |
|
|
R4370:Trio
|
UTSW |
15 |
27,748,423 (GRCm39) |
nonsense |
probably null |
|
|
R4547:Trio
|
UTSW |
15 |
27,819,068 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4573:Trio
|
UTSW |
15 |
27,773,084 (GRCm39) |
small deletion |
probably benign |
|
|
R4620:Trio
|
UTSW |
15 |
27,871,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4764:Trio
|
UTSW |
15 |
27,732,624 (GRCm39) |
nonsense |
probably null |
|
|
R4775:Trio
|
UTSW |
15 |
27,881,428 (GRCm39) |
nonsense |
probably null |
|
|
R4942:Trio
|
UTSW |
15 |
27,752,811 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5004:Trio
|
UTSW |
15 |
27,755,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5149:Trio
|
UTSW |
15 |
27,754,115 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5183:Trio
|
UTSW |
15 |
27,902,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5186:Trio
|
UTSW |
15 |
27,898,077 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5268:Trio
|
UTSW |
15 |
27,748,372 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5344:Trio
|
UTSW |
15 |
27,735,618 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5407:Trio
|
UTSW |
15 |
27,844,892 (GRCm39) |
splice site |
probably null |
|
|
R5442:Trio
|
UTSW |
15 |
27,856,280 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5617:Trio
|
UTSW |
15 |
27,902,834 (GRCm39) |
missense |
probably benign |
|
|
R5778:Trio
|
UTSW |
15 |
27,856,250 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5986:Trio
|
UTSW |
15 |
27,852,019 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5990:Trio
|
UTSW |
15 |
27,891,545 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6011:Trio
|
UTSW |
15 |
27,735,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6063:Trio
|
UTSW |
15 |
27,891,465 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6166:Trio
|
UTSW |
15 |
27,818,157 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6187:Trio
|
UTSW |
15 |
27,744,038 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6387:Trio
|
UTSW |
15 |
27,752,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6402:Trio
|
UTSW |
15 |
27,902,997 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6478:Trio
|
UTSW |
15 |
27,856,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6528:Trio
|
UTSW |
15 |
27,805,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6662:Trio
|
UTSW |
15 |
27,855,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6825:Trio
|
UTSW |
15 |
27,889,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6890:Trio
|
UTSW |
15 |
27,919,374 (GRCm39) |
unclassified |
probably benign |
|
|
R6945:Trio
|
UTSW |
15 |
27,824,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Trio
|
UTSW |
15 |
27,805,740 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7046:Trio
|
UTSW |
15 |
27,832,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7049:Trio
|
UTSW |
15 |
27,749,885 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7075:Trio
|
UTSW |
15 |
27,898,086 (GRCm39) |
missense |
unknown |
|
|
R7094:Trio
|
UTSW |
15 |
27,891,534 (GRCm39) |
missense |
unknown |
|
|
R7123:Trio
|
UTSW |
15 |
27,742,399 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7130:Trio
|
UTSW |
15 |
27,742,399 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7214:Trio
|
UTSW |
15 |
27,871,273 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7292:Trio
|
UTSW |
15 |
27,828,437 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7293:Trio
|
UTSW |
15 |
27,871,375 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7352:Trio
|
UTSW |
15 |
27,732,962 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7426:Trio
|
UTSW |
15 |
27,856,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7451:Trio
|
UTSW |
15 |
27,747,999 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7558:Trio
|
UTSW |
15 |
27,831,480 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7578:Trio
|
UTSW |
15 |
27,855,025 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7596:Trio
|
UTSW |
15 |
27,749,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7604:Trio
|
UTSW |
15 |
27,736,531 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7609:Trio
|
UTSW |
15 |
27,912,728 (GRCm39) |
missense |
unknown |
|
|
R7767:Trio
|
UTSW |
15 |
27,889,504 (GRCm39) |
missense |
unknown |
|
|
R7784:Trio
|
UTSW |
15 |
27,764,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Trio
|
UTSW |
15 |
27,749,952 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7833:Trio
|
UTSW |
15 |
27,774,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7873:Trio
|
UTSW |
15 |
27,805,770 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7879:Trio
|
UTSW |
15 |
27,852,010 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7989:Trio
|
UTSW |
15 |
27,773,021 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8022:Trio
|
UTSW |
15 |
27,749,952 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8050:Trio
|
UTSW |
15 |
27,891,540 (GRCm39) |
missense |
unknown |
|
|
R8217:Trio
|
UTSW |
15 |
27,819,055 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8280:Trio
|
UTSW |
15 |
27,902,996 (GRCm39) |
missense |
unknown |
|
|
R8283:Trio
|
UTSW |
15 |
27,756,628 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8300:Trio
|
UTSW |
15 |
27,855,108 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8321:Trio
|
UTSW |
15 |
27,881,412 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8477:Trio
|
UTSW |
15 |
27,774,038 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8479:Trio
|
UTSW |
15 |
27,901,286 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8682:Trio
|
UTSW |
15 |
27,905,278 (GRCm39) |
missense |
unknown |
|
|
R8688:Trio
|
UTSW |
15 |
27,748,324 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8708:Trio
|
UTSW |
15 |
27,732,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8709:Trio
|
UTSW |
15 |
27,919,323 (GRCm39) |
missense |
unknown |
|
|
R8713:Trio
|
UTSW |
15 |
27,744,037 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8798:Trio
|
UTSW |
15 |
27,851,923 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8812:Trio
|
UTSW |
15 |
27,905,311 (GRCm39) |
missense |
unknown |
|
|
R8816:Trio
|
UTSW |
15 |
27,741,357 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8828:Trio
|
UTSW |
15 |
27,741,150 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8987:Trio
|
UTSW |
15 |
27,732,773 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9051:Trio
|
UTSW |
15 |
27,732,770 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9069:Trio
|
UTSW |
15 |
27,852,097 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9075:Trio
|
UTSW |
15 |
27,774,022 (GRCm39) |
nonsense |
probably null |
|
|
R9079:Trio
|
UTSW |
15 |
27,733,023 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9139:Trio
|
UTSW |
15 |
27,749,922 (GRCm39) |
nonsense |
probably null |
|
|
R9494:Trio
|
UTSW |
15 |
27,846,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9680:Trio
|
UTSW |
15 |
27,744,158 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9720:Trio
|
UTSW |
15 |
27,847,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9726:Trio
|
UTSW |
15 |
27,912,752 (GRCm39) |
missense |
unknown |
|
|
X0024:Trio
|
UTSW |
15 |
27,765,812 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1176:Trio
|
UTSW |
15 |
27,771,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGTGCATTTACCTTGATACTG -3'
(R):5'- TGGTTTTACCCAGAGCTGAC -3'
Sequencing Primer
(F):5'- CAGAAATCCTGGCATGGAAAAGCC -3'
(R):5'- TGGTTTTACCCAGAGCTGACAAGAC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation