Incidental Mutation 'IGL01288:Fam13a'
| ID |
72824 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam13a
|
| Ensembl Gene |
ENSMUSG00000037709 |
| Gene Name |
family with sequence similarity 13, member A |
| Synonyms |
D430015B01Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01288
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
58910521-59001487 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58933712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 293
(Y293H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089860]
[ENSMUST00000173193]
|
| AlphaFold |
Q8BGI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089860
AA Change: Y293H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087304
Gene: ENSMUSG00000037709
AA Change: Y293H
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
19 |
128 |
6e-27 |
BLAST |
|
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
185 |
N/A |
INTRINSIC |
|
coiled coil region
|
336 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
433 |
N/A |
INTRINSIC |
|
coiled coil region
|
620 |
645 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173193
AA Change: Y293H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134135
Gene: ENSMUSG00000037709
AA Change: Y293H
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGAP
|
21 |
128 |
6e-27 |
BLAST |
|
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
185 |
N/A |
INTRINSIC |
|
coiled coil region
|
336 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
433 |
N/A |
INTRINSIC |
|
coiled coil region
|
592 |
617 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
G |
T |
8: 123,507,381 (GRCm39) |
|
probably benign |
Het |
| Acsl3 |
G |
T |
1: 78,677,476 (GRCm39) |
W490L |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,858 (GRCm39) |
I381V |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,333,566 (GRCm39) |
Y261C |
probably damaging |
Het |
| Ap3m2 |
T |
C |
8: 23,293,931 (GRCm39) |
T40A |
probably benign |
Het |
| Arfgef1 |
C |
T |
1: 10,283,436 (GRCm39) |
A158T |
possibly damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,085,474 (GRCm39) |
E43G |
possibly damaging |
Het |
| Cog5 |
C |
T |
12: 31,936,205 (GRCm39) |
T584I |
probably benign |
Het |
| Cpa1 |
G |
A |
6: 30,640,582 (GRCm39) |
V75M |
probably damaging |
Het |
| Cul7 |
A |
G |
17: 46,968,733 (GRCm39) |
|
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,139,029 (GRCm39) |
I668T |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,536,181 (GRCm39) |
I93T |
possibly damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,696,604 (GRCm39) |
Y218C |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,032,865 (GRCm39) |
Y164C |
probably damaging |
Het |
| Etos1 |
C |
A |
7: 130,373,935 (GRCm39) |
|
probably benign |
Het |
| Gde1 |
A |
T |
7: 118,290,863 (GRCm39) |
V154D |
possibly damaging |
Het |
| Glyat |
A |
G |
19: 12,627,719 (GRCm39) |
T105A |
possibly damaging |
Het |
| Il36b |
A |
T |
2: 24,049,925 (GRCm39) |
I179L |
probably benign |
Het |
| Kif21b |
C |
T |
1: 136,099,922 (GRCm39) |
T1492M |
probably benign |
Het |
| Kmt2d |
G |
T |
15: 98,762,925 (GRCm39) |
P282T |
probably damaging |
Het |
| Lgi4 |
A |
G |
7: 30,768,468 (GRCm39) |
E489G |
probably benign |
Het |
| Lipn |
A |
C |
19: 34,056,435 (GRCm39) |
E260D |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,730,864 (GRCm39) |
D2911G |
probably benign |
Het |
| Nab2 |
C |
T |
10: 127,500,978 (GRCm39) |
R38Q |
probably damaging |
Het |
| Or1e35 |
A |
T |
11: 73,798,139 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or4c1 |
A |
T |
2: 89,133,816 (GRCm39) |
V40E |
possibly damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,592 (GRCm39) |
I172K |
probably damaging |
Het |
| Or52i2 |
A |
G |
7: 102,319,858 (GRCm39) |
T244A |
probably damaging |
Het |
| Or5t16 |
C |
A |
2: 86,818,598 (GRCm39) |
M307I |
probably benign |
Het |
| Or6f2 |
T |
C |
7: 139,756,528 (GRCm39) |
L165P |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,395,167 (GRCm39) |
S337P |
probably damaging |
Het |
| Phf8 |
T |
C |
X: 150,330,921 (GRCm39) |
|
probably null |
Het |
| Pik3c2b |
C |
T |
1: 133,022,543 (GRCm39) |
H1162Y |
probably damaging |
Het |
| Plek2 |
T |
C |
12: 78,941,727 (GRCm39) |
D134G |
possibly damaging |
Het |
| Rnf139 |
G |
A |
15: 58,771,028 (GRCm39) |
R351H |
probably damaging |
Het |
| Shld2 |
A |
T |
14: 33,981,600 (GRCm39) |
Y513N |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,381,332 (GRCm39) |
|
probably benign |
Het |
| Slc12a9 |
C |
T |
5: 137,329,200 (GRCm39) |
|
probably null |
Het |
| Stradb |
C |
A |
1: 59,031,460 (GRCm39) |
H216N |
possibly damaging |
Het |
| Tex15 |
C |
T |
8: 34,061,412 (GRCm39) |
H281Y |
probably benign |
Het |
| Tg |
G |
T |
15: 66,608,125 (GRCm39) |
V237L |
possibly damaging |
Het |
| Tns1 |
T |
A |
1: 73,992,969 (GRCm39) |
T570S |
probably damaging |
Het |
| Tpm1 |
C |
T |
9: 66,943,337 (GRCm39) |
R105H |
probably damaging |
Het |
| Wdfy3 |
G |
T |
5: 102,049,857 (GRCm39) |
|
probably null |
Het |
| Zc3h12c |
A |
G |
9: 52,028,951 (GRCm39) |
|
probably benign |
Het |
| Zmynd8 |
T |
A |
2: 165,654,734 (GRCm39) |
S584C |
probably damaging |
Het |
|
| Other mutations in Fam13a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00265:Fam13a
|
APN |
6 |
58,923,111 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00467:Fam13a
|
APN |
6 |
58,917,098 (GRCm39) |
splice site |
probably benign |
|
|
IGL01503:Fam13a
|
APN |
6 |
58,933,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01532:Fam13a
|
APN |
6 |
58,917,280 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02197:Fam13a
|
APN |
6 |
58,912,586 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02206:Fam13a
|
APN |
6 |
58,964,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03189:Fam13a
|
APN |
6 |
58,933,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB009:Fam13a
|
UTSW |
6 |
58,960,873 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB019:Fam13a
|
UTSW |
6 |
58,960,873 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0361:Fam13a
|
UTSW |
6 |
58,964,159 (GRCm39) |
missense |
probably benign |
|
|
R0512:Fam13a
|
UTSW |
6 |
58,933,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0801:Fam13a
|
UTSW |
6 |
58,960,997 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1222:Fam13a
|
UTSW |
6 |
58,912,707 (GRCm39) |
splice site |
probably benign |
|
|
R1378:Fam13a
|
UTSW |
6 |
58,933,736 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1535:Fam13a
|
UTSW |
6 |
58,916,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1614:Fam13a
|
UTSW |
6 |
58,917,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1663:Fam13a
|
UTSW |
6 |
58,931,357 (GRCm39) |
nonsense |
probably null |
|
|
R1809:Fam13a
|
UTSW |
6 |
58,942,045 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1905:Fam13a
|
UTSW |
6 |
58,930,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2568:Fam13a
|
UTSW |
6 |
58,912,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3771:Fam13a
|
UTSW |
6 |
58,964,171 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4654:Fam13a
|
UTSW |
6 |
58,964,152 (GRCm39) |
missense |
probably benign |
|
|
R5244:Fam13a
|
UTSW |
6 |
58,930,459 (GRCm39) |
nonsense |
probably null |
|
|
R5488:Fam13a
|
UTSW |
6 |
59,001,303 (GRCm39) |
missense |
probably null |
1.00 |
|
R5489:Fam13a
|
UTSW |
6 |
59,001,303 (GRCm39) |
missense |
probably null |
1.00 |
|
R5712:Fam13a
|
UTSW |
6 |
58,933,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Fam13a
|
UTSW |
6 |
58,916,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5969:Fam13a
|
UTSW |
6 |
58,942,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6074:Fam13a
|
UTSW |
6 |
58,966,723 (GRCm39) |
splice site |
probably null |
|
|
R6275:Fam13a
|
UTSW |
6 |
58,931,242 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6306:Fam13a
|
UTSW |
6 |
58,917,239 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6338:Fam13a
|
UTSW |
6 |
58,930,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6603:Fam13a
|
UTSW |
6 |
58,964,174 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7508:Fam13a
|
UTSW |
6 |
58,964,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7516:Fam13a
|
UTSW |
6 |
58,932,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7688:Fam13a
|
UTSW |
6 |
58,912,692 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7728:Fam13a
|
UTSW |
6 |
58,931,284 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7932:Fam13a
|
UTSW |
6 |
58,960,873 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8080:Fam13a
|
UTSW |
6 |
58,933,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Fam13a
|
UTSW |
6 |
58,930,508 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9671:Fam13a
|
UTSW |
6 |
58,951,014 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation