Incidental Mutation 'IGL00467:Fam13a'
| ID |
6354 |
| 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 # |
IGL00467
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
58910521-59001487 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 58917098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089860]
[ENSMUST00000173193]
|
| AlphaFold |
Q8BGI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089860
|
| SMART Domains |
Protein: ENSMUSP00000087304
Gene: ENSMUSG00000037709
| 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 benign
Transcript: ENSMUST00000173193
|
| SMART Domains |
Protein: ENSMUSP00000134135
Gene: ENSMUSG00000037709
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,036,496 (GRCm39) |
|
probably benign |
Het |
| Acvrl1 |
C |
A |
15: 101,041,221 (GRCm39) |
|
probably null |
Het |
| Ahnak |
T |
A |
19: 8,984,587 (GRCm39) |
M1957K |
probably damaging |
Het |
| Brinp3 |
A |
G |
1: 146,777,512 (GRCm39) |
D653G |
probably damaging |
Het |
| Dcstamp |
T |
A |
15: 39,617,812 (GRCm39) |
C74S |
probably benign |
Het |
| Esrrg |
A |
G |
1: 187,943,107 (GRCm39) |
E360G |
probably damaging |
Het |
| Glipr1l1 |
A |
G |
10: 111,914,286 (GRCm39) |
T216A |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,343,193 (GRCm39) |
|
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mta3 |
T |
A |
17: 84,063,113 (GRCm39) |
|
probably benign |
Het |
| Nfu1 |
A |
G |
6: 86,997,755 (GRCm39) |
M213V |
possibly damaging |
Het |
| Pam |
A |
T |
1: 97,852,152 (GRCm39) |
|
probably benign |
Het |
| Pcca |
A |
T |
14: 122,820,041 (GRCm39) |
M62L |
probably benign |
Het |
| Phf6 |
A |
G |
X: 52,020,523 (GRCm39) |
Y25C |
probably damaging |
Het |
| Phlpp2 |
C |
T |
8: 110,652,422 (GRCm39) |
H589Y |
probably benign |
Het |
| Ppp1r13b |
A |
G |
12: 111,795,804 (GRCm39) |
I956T |
probably damaging |
Het |
| Prkcd |
G |
A |
14: 30,324,379 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,086,656 (GRCm39) |
N973I |
possibly damaging |
Het |
| Rnf20 |
G |
T |
4: 49,655,480 (GRCm39) |
E905* |
probably null |
Het |
| Slc26a6 |
T |
A |
9: 108,733,088 (GRCm39) |
D22E |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Taf6l |
A |
T |
19: 8,760,752 (GRCm39) |
N57K |
probably benign |
Het |
| Tas2r109 |
C |
A |
6: 132,956,986 (GRCm39) |
V315L |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,170,121 (GRCm39) |
N350S |
probably benign |
Het |
| Tex9 |
T |
C |
9: 72,385,117 (GRCm39) |
T240A |
probably benign |
Het |
| Trank1 |
G |
A |
9: 111,193,734 (GRCm39) |
|
probably benign |
Het |
| Trim30c |
A |
T |
7: 104,031,389 (GRCm39) |
Y475* |
probably null |
Het |
| Trim60 |
T |
C |
8: 65,453,371 (GRCm39) |
T293A |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,018,708 (GRCm39) |
Y1233C |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,841,235 (GRCm39) |
I106V |
probably benign |
Het |
| Zkscan16 |
T |
C |
4: 58,957,709 (GRCm39) |
S664P |
possibly 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 |
|
IGL01288:Fam13a
|
APN |
6 |
58,933,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-04-20 |
Incidental Mutation