Incidental Mutation 'IGL01503:Fam13a'
| ID |
88959 |
| 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 # |
IGL01503
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
58910521-59001487 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58933065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 349
(I349N)
|
| 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: I349N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087304
Gene: ENSMUSG00000037709
AA Change: I349N
| 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: I349N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134135
Gene: ENSMUSG00000037709
AA Change: I349N
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
T |
A |
16: 88,971,757 (GRCm39) |
Y26* |
probably null |
Het |
| Aadacl4fm4 |
T |
A |
4: 144,401,137 (GRCm39) |
I116F |
probably damaging |
Het |
| Arpc1a |
T |
C |
5: 145,032,964 (GRCm39) |
V91A |
probably damaging |
Het |
| Atp2a1 |
T |
A |
7: 126,047,750 (GRCm39) |
I687F |
probably damaging |
Het |
| B3gnt5 |
A |
C |
16: 19,588,531 (GRCm39) |
Y250S |
probably damaging |
Het |
| Brip1 |
A |
G |
11: 85,952,703 (GRCm39) |
V1026A |
probably benign |
Het |
| C1s2 |
T |
C |
6: 124,602,612 (GRCm39) |
D527G |
probably damaging |
Het |
| Chrna5 |
T |
A |
9: 54,905,455 (GRCm39) |
|
probably benign |
Het |
| Cltc |
C |
A |
11: 86,586,526 (GRCm39) |
|
probably benign |
Het |
| Dgkh |
T |
G |
14: 78,853,710 (GRCm39) |
I439L |
possibly damaging |
Het |
| Dnajc16 |
G |
A |
4: 141,491,008 (GRCm39) |
T714I |
possibly damaging |
Het |
| Fig4 |
C |
T |
10: 41,132,514 (GRCm39) |
D431N |
probably benign |
Het |
| Gabra4 |
A |
T |
5: 71,798,429 (GRCm39) |
N183K |
possibly damaging |
Het |
| Ggt5 |
C |
T |
10: 75,445,944 (GRCm39) |
|
probably benign |
Het |
| Hdac6 |
A |
G |
X: 7,798,418 (GRCm39) |
L798P |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,456,714 (GRCm39) |
V2030A |
probably benign |
Het |
| Hecw2 |
A |
G |
1: 53,866,120 (GRCm39) |
Y1514H |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,480,823 (GRCm39) |
D4451G |
probably benign |
Het |
| Krtcap3 |
T |
C |
5: 31,409,167 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,217,695 (GRCm39) |
|
probably benign |
Het |
| Mapkapk2 |
T |
C |
1: 130,986,499 (GRCm39) |
M1V |
probably null |
Het |
| Mical3 |
A |
T |
6: 120,935,537 (GRCm39) |
I1663N |
probably benign |
Het |
| Mvp |
G |
T |
7: 126,601,133 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,170,324 (GRCm39) |
I485V |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,960,890 (GRCm39) |
C520* |
probably null |
Het |
| Nos2 |
A |
G |
11: 78,836,689 (GRCm39) |
|
probably benign |
Het |
| Ogdh |
G |
A |
11: 6,305,069 (GRCm39) |
V925M |
probably damaging |
Het |
| Pde2a |
T |
A |
7: 101,151,143 (GRCm39) |
|
probably benign |
Het |
| Plpp6 |
A |
G |
19: 28,942,279 (GRCm39) |
*293W |
probably null |
Het |
| Pole |
T |
A |
5: 110,451,750 (GRCm39) |
I864K |
probably damaging |
Het |
| Rexo4 |
A |
T |
2: 26,850,645 (GRCm39) |
I239N |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,152,687 (GRCm39) |
I748F |
probably damaging |
Het |
| Sfmbt2 |
A |
T |
2: 10,584,165 (GRCm39) |
R841* |
probably null |
Het |
| Sh3bp5l |
A |
G |
11: 58,228,827 (GRCm39) |
N100S |
probably damaging |
Het |
| Spic |
T |
A |
10: 88,511,623 (GRCm39) |
D211V |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,776,477 (GRCm39) |
|
probably benign |
Het |
| Tshr |
A |
G |
12: 91,478,708 (GRCm39) |
Y83C |
probably damaging |
Het |
| Vsir |
A |
G |
10: 60,204,373 (GRCm39) |
E172G |
probably damaging |
Het |
| Wwp2 |
T |
C |
8: 108,276,413 (GRCm39) |
S508P |
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 |
|
|
IGL01288:Fam13a
|
APN |
6 |
58,933,712 (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 |
2013-12-03 |
Incidental Mutation