Incidental Mutation 'IGL01532:Fam13a'
ID |
89802 |
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 # |
IGL01532
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
58910521-59001487 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58917280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 532
(D532G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089860]
[ENSMUST00000173193]
|
AlphaFold |
Q8BGI4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089860
AA Change: D560G
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000087304 Gene: ENSMUSG00000037709 AA Change: D560G
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: D532G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000134135 Gene: ENSMUSG00000037709 AA Change: D532G
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
C |
A |
7: 66,558,349 (GRCm39) |
N264K |
probably damaging |
Het |
Adgrl3 |
C |
T |
5: 81,842,416 (GRCm39) |
T260I |
probably damaging |
Het |
Ambra1 |
G |
T |
2: 91,715,977 (GRCm39) |
K769N |
probably damaging |
Het |
Arel1 |
A |
G |
12: 84,980,936 (GRCm39) |
V357A |
possibly damaging |
Het |
Atp11b |
T |
A |
3: 35,903,651 (GRCm39) |
C76* |
probably null |
Het |
AW112010 |
C |
A |
19: 11,025,433 (GRCm39) |
|
noncoding transcript |
Het |
Bfar |
A |
T |
16: 13,505,251 (GRCm39) |
|
probably benign |
Het |
Ccdc70 |
T |
G |
8: 22,463,299 (GRCm39) |
L30V |
probably damaging |
Het |
Cep20 |
A |
G |
16: 14,122,375 (GRCm39) |
S130P |
probably benign |
Het |
Chrm5 |
C |
T |
2: 112,309,577 (GRCm39) |
R513Q |
probably benign |
Het |
Crem |
G |
A |
18: 3,276,732 (GRCm39) |
T7I |
probably benign |
Het |
Cyp4f39 |
C |
T |
17: 32,689,928 (GRCm39) |
|
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,208,660 (GRCm39) |
T849A |
probably benign |
Het |
Dock8 |
G |
T |
19: 25,146,805 (GRCm39) |
G1428V |
probably damaging |
Het |
Eomes |
T |
C |
9: 118,311,317 (GRCm39) |
I380T |
probably damaging |
Het |
Gm10061 |
G |
T |
16: 88,948,190 (GRCm39) |
*55L |
probably null |
Het |
Gm27438 |
T |
G |
2: 87,083,269 (GRCm39) |
|
probably benign |
Het |
Gpalpp1 |
T |
C |
14: 76,339,942 (GRCm39) |
K124E |
probably benign |
Het |
Hgs |
T |
A |
11: 120,368,335 (GRCm39) |
|
probably null |
Het |
Hpn |
T |
A |
7: 30,802,938 (GRCm39) |
M121L |
possibly damaging |
Het |
Il1r1 |
T |
C |
1: 40,334,088 (GRCm39) |
|
probably null |
Het |
Jag2 |
A |
T |
12: 112,877,983 (GRCm39) |
C583S |
probably damaging |
Het |
Katnal2 |
T |
C |
18: 77,099,696 (GRCm39) |
H146R |
probably benign |
Het |
Ldah |
T |
C |
12: 8,270,596 (GRCm39) |
|
probably benign |
Het |
Lvrn |
T |
A |
18: 47,033,551 (GRCm39) |
Y921N |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,423,743 (GRCm39) |
Y4572C |
possibly damaging |
Het |
Myo16 |
A |
G |
8: 10,450,551 (GRCm39) |
S518G |
probably benign |
Het |
Ncf1 |
T |
C |
5: 134,255,447 (GRCm39) |
N148S |
probably benign |
Het |
Nes |
T |
G |
3: 87,885,654 (GRCm39) |
D1260E |
possibly damaging |
Het |
Nup210 |
C |
A |
6: 91,062,981 (GRCm39) |
|
probably benign |
Het |
Or52b4i |
T |
C |
7: 102,191,863 (GRCm39) |
L240P |
probably damaging |
Het |
Rnf31 |
C |
A |
14: 55,840,080 (GRCm39) |
Q968K |
probably damaging |
Het |
Ros1 |
A |
G |
10: 51,967,034 (GRCm39) |
|
probably benign |
Het |
Ryk |
T |
C |
9: 102,774,465 (GRCm39) |
Y400H |
probably benign |
Het |
Slc4a5 |
T |
A |
6: 83,250,022 (GRCm39) |
|
probably null |
Het |
Sptssb |
A |
G |
3: 69,728,202 (GRCm39) |
|
probably benign |
Het |
Sstr5 |
T |
C |
17: 25,710,305 (GRCm39) |
D308G |
probably damaging |
Het |
Taf2 |
A |
G |
15: 54,912,882 (GRCm39) |
W493R |
possibly damaging |
Het |
Vmn2r28 |
T |
A |
7: 5,489,463 (GRCm39) |
I459L |
probably benign |
Het |
Vti1b |
A |
C |
12: 79,211,912 (GRCm39) |
L1W |
probably null |
Het |
Wdr1 |
T |
C |
5: 38,692,530 (GRCm39) |
Y125C |
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 |
IGL01503:Fam13a
|
APN |
6 |
58,933,065 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |