Incidental Mutation 'IGL02206:Fam13a'
| ID |
284493 |
| 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 # |
IGL02206
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
58910521-59001487 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58964204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 76
(I76K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089860]
[ENSMUST00000173193]
|
| AlphaFold |
Q8BGI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089860
AA Change: I76K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000087304
Gene: ENSMUSG00000037709
AA Change: I76K
| 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
AA Change: I76K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134135
Gene: ENSMUSG00000037709
AA Change: I76K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173978
|
| 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 |
|---|
| Acaca |
A |
T |
11: 84,151,573 (GRCm39) |
K824* |
probably null |
Het |
| Acot12 |
A |
G |
13: 91,908,106 (GRCm39) |
D96G |
probably damaging |
Het |
| Acvr2b |
C |
T |
9: 119,257,064 (GRCm39) |
Q98* |
probably null |
Het |
| Aldh8a1 |
T |
C |
10: 21,271,474 (GRCm39) |
V400A |
probably benign |
Het |
| Aox1 |
C |
A |
1: 58,104,499 (GRCm39) |
H559N |
probably benign |
Het |
| Arhgef18 |
T |
A |
8: 3,495,034 (GRCm39) |
I431N |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,985,009 (GRCm39) |
D32G |
probably damaging |
Het |
| Cgas |
T |
C |
9: 78,350,362 (GRCm39) |
|
probably null |
Het |
| Cmtm8 |
T |
C |
9: 114,672,967 (GRCm39) |
H10R |
probably benign |
Het |
| Cnn1 |
T |
G |
9: 22,015,674 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Defb23 |
C |
A |
2: 152,306,455 (GRCm39) |
E20* |
probably null |
Het |
| Dennd2a |
A |
T |
6: 39,500,383 (GRCm39) |
S61T |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 91,964,239 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
A |
T |
11: 49,521,217 (GRCm39) |
R409W |
probably damaging |
Het |
| Gramd1b |
T |
C |
9: 40,211,328 (GRCm39) |
T652A |
probably benign |
Het |
| Grik1 |
C |
T |
16: 87,732,808 (GRCm39) |
G703D |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,079,960 (GRCm39) |
E479G |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,526,781 (GRCm39) |
N2743S |
probably damaging |
Het |
| Klc1 |
A |
G |
12: 111,744,550 (GRCm39) |
|
probably benign |
Het |
| Ndufa9 |
G |
A |
6: 126,821,366 (GRCm39) |
R75* |
probably null |
Het |
| Neurl4 |
A |
G |
11: 69,801,166 (GRCm39) |
N1181S |
probably damaging |
Het |
| Or5an9 |
T |
C |
19: 12,187,824 (GRCm39) |
I298T |
probably damaging |
Het |
| Phf1 |
A |
G |
17: 27,155,843 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,376,245 (GRCm39) |
I969T |
probably benign |
Het |
| Pprc1 |
G |
A |
19: 46,060,190 (GRCm39) |
R1538Q |
probably damaging |
Het |
| Rasd1 |
C |
T |
11: 59,854,778 (GRCm39) |
G234D |
possibly damaging |
Het |
| Rnf152 |
T |
C |
1: 105,212,549 (GRCm39) |
T3A |
probably benign |
Het |
| Rrh |
C |
T |
3: 129,605,346 (GRCm39) |
V115I |
probably benign |
Het |
| Rundc3a |
G |
T |
11: 102,290,460 (GRCm39) |
E217* |
probably null |
Het |
| Sae1 |
A |
T |
7: 16,064,581 (GRCm39) |
V306E |
possibly damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,363,102 (GRCm39) |
S89P |
possibly damaging |
Het |
| Serpinb9h |
A |
G |
13: 33,588,182 (GRCm39) |
T256A |
probably damaging |
Het |
| Sgo2b |
T |
A |
8: 64,394,118 (GRCm39) |
T74S |
possibly damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,604,022 (GRCm39) |
D48G |
probably damaging |
Het |
| Stn1 |
T |
C |
19: 47,504,612 (GRCm39) |
M177V |
possibly damaging |
Het |
| Tgm1 |
T |
C |
14: 55,942,392 (GRCm39) |
E653G |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 60,301,398 (GRCm39) |
K299R |
probably benign |
Het |
| Ttc22 |
A |
G |
4: 106,493,186 (GRCm39) |
T278A |
probably damaging |
Het |
| Ubl4b |
G |
T |
3: 107,462,141 (GRCm39) |
Q40K |
possibly damaging |
Het |
| Zfp677 |
A |
G |
17: 21,613,499 (GRCm39) |
D31G |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation