Incidental Mutation 'R1378:Fam13a'
| ID |
162940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam13a
|
| Ensembl Gene |
ENSMUSG00000037709 |
| Gene Name |
family with sequence similarity 13, member A |
| Synonyms |
D430015B01Rik |
| MMRRC Submission |
039442-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1378 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
58910521-59001487 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58933736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 285
(M285L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089860]
[ENSMUST00000173193]
|
| AlphaFold |
Q8BGI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089860
AA Change: M285L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000087304
Gene: ENSMUSG00000037709
AA Change: M285L
| 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: M285L
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000134135
Gene: ENSMUSG00000037709
AA Change: M285L
| 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 |
|
| Meta Mutation Damage Score |
0.0809 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
G |
5: 36,126,030 (GRCm39) |
T342A |
probably damaging |
Het |
| Alg1 |
A |
G |
16: 5,061,580 (GRCm39) |
N406D |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,239,246 (GRCm39) |
M825K |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,967,450 (GRCm39) |
I4117K |
probably damaging |
Het |
| Brinp2 |
A |
T |
1: 158,074,624 (GRCm39) |
L499Q |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,842,570 (GRCm39) |
V789D |
probably benign |
Het |
| Ccdc153 |
C |
G |
9: 44,154,958 (GRCm39) |
L94V |
probably null |
Het |
| Ccna1 |
A |
G |
3: 54,957,150 (GRCm39) |
V237A |
probably damaging |
Het |
| Cct7 |
T |
A |
6: 85,444,545 (GRCm39) |
|
probably null |
Het |
| Cenpb |
C |
T |
2: 131,020,230 (GRCm39) |
|
probably benign |
Het |
| Chrne |
T |
A |
11: 70,505,956 (GRCm39) |
|
probably null |
Het |
| Clstn3 |
T |
A |
6: 124,415,378 (GRCm39) |
D662V |
probably damaging |
Het |
| Clu |
G |
T |
14: 66,212,350 (GRCm39) |
C189F |
probably damaging |
Het |
| Cstdc5 |
A |
G |
16: 36,179,929 (GRCm39) |
C63R |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,973,052 (GRCm39) |
R1388C |
probably damaging |
Het |
| Dgka |
T |
C |
10: 128,571,696 (GRCm39) |
|
probably null |
Het |
| Dop1b |
A |
G |
16: 93,567,280 (GRCm39) |
T1236A |
probably benign |
Het |
| Edn2 |
A |
G |
4: 120,019,095 (GRCm39) |
E28G |
probably benign |
Het |
| Elp3 |
T |
C |
14: 65,830,380 (GRCm39) |
I24V |
probably benign |
Het |
| Faap24 |
T |
C |
7: 35,092,326 (GRCm39) |
E197G |
probably benign |
Het |
| Gm9944 |
T |
A |
4: 144,179,773 (GRCm39) |
|
probably benign |
Het |
| Gsdmc3 |
T |
C |
15: 63,731,435 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
T |
A |
7: 106,201,373 (GRCm39) |
I624F |
probably damaging |
Het |
| Ift22 |
A |
C |
5: 136,941,757 (GRCm39) |
K133T |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,429,394 (GRCm39) |
K316I |
possibly damaging |
Het |
| Klra17 |
T |
A |
6: 129,842,647 (GRCm39) |
E217V |
probably damaging |
Het |
| Nell2 |
A |
T |
15: 95,130,402 (GRCm39) |
V657E |
probably damaging |
Het |
| Nlrp4d |
C |
A |
7: 10,098,111 (GRCm39) |
K850N |
probably benign |
Het |
| Nsmce4a |
C |
T |
7: 130,139,900 (GRCm39) |
R276Q |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,580,962 (GRCm39) |
L203P |
probably damaging |
Het |
| Or4p8 |
T |
A |
2: 88,727,370 (GRCm39) |
R190S |
probably benign |
Het |
| Or52s1b |
T |
C |
7: 102,822,475 (GRCm39) |
D123G |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,145 (GRCm39) |
R95* |
probably null |
Het |
| Pclo |
T |
C |
5: 14,732,327 (GRCm39) |
S3610P |
probably benign |
Het |
| Pon3 |
T |
G |
6: 5,230,813 (GRCm39) |
D238A |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,547,751 (GRCm39) |
|
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,658,297 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,711 (GRCm39) |
Y1652C |
probably damaging |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Sel1l |
T |
C |
12: 91,799,871 (GRCm39) |
|
probably null |
Het |
| Soat1 |
A |
G |
1: 156,294,352 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
A |
T |
8: 34,065,244 (GRCm39) |
N1558I |
probably damaging |
Het |
| Tmem132d |
A |
T |
5: 128,346,011 (GRCm39) |
F170L |
probably benign |
Het |
| Tro |
G |
T |
X: 149,438,567 (GRCm39) |
P30Q |
probably damaging |
Het |
| Tubg2 |
G |
T |
11: 101,047,699 (GRCm39) |
E95* |
probably null |
Het |
| Unc45b |
G |
A |
11: 82,827,678 (GRCm39) |
S725N |
probably benign |
Het |
| Vmn2r7 |
A |
G |
3: 64,599,025 (GRCm39) |
S511P |
possibly damaging |
Het |
| Vps35l |
G |
T |
7: 118,393,795 (GRCm39) |
E515* |
probably null |
Het |
| Vps35l |
A |
T |
7: 118,393,796 (GRCm39) |
E515V |
probably damaging |
Het |
| Zfp174 |
G |
A |
16: 3,667,353 (GRCm39) |
E181K |
probably benign |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCATCTCAAGTGGAAACTGCAAC -3'
(R):5'- AAATCACCCACTGGGCAGTGAC -3'
Sequencing Primer
(F):5'- ACTGATTGACCTAGCCATCAGTG -3'
(R):5'- TGGGCAGTGACCTAAAACAGTC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation