Incidental Mutation 'R6426:Fam149a'
| ID |
518327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam149a
|
| Ensembl Gene |
ENSMUSG00000070044 |
| Gene Name |
family with sequence similarity 149, member A |
| Synonyms |
|
| MMRRC Submission |
044565-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6426 (G1)
|
| Quality Score |
191.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
45789754-45835328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 45834611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 63
(A63S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093526]
|
| AlphaFold |
Q8CFV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093526
AA Change: A63S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: A63S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
274 |
N/A |
INTRINSIC |
|
Pfam:DUF3719
|
305 |
370 |
4.3e-30 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.5%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Adcyap1r1 |
T |
G |
6: 55,471,172 (GRCm39) |
L365R |
probably damaging |
Het |
| Adgre4 |
A |
G |
17: 56,109,196 (GRCm39) |
N401S |
probably benign |
Het |
| Adgrl3 |
A |
T |
5: 81,874,717 (GRCm39) |
S1073C |
probably damaging |
Het |
| Bicral |
G |
A |
17: 47,141,005 (GRCm39) |
P26S |
probably benign |
Het |
| Cst3 |
G |
T |
2: 148,713,917 (GRCm39) |
T129K |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,753 (GRCm39) |
M287T |
probably benign |
Het |
| Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,997,645 (GRCm39) |
V611A |
probably damaging |
Het |
| Fhip2a |
T |
G |
19: 57,371,610 (GRCm39) |
L574R |
probably damaging |
Het |
| Foxred2 |
C |
G |
15: 77,837,508 (GRCm39) |
A243P |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,436 (GRCm39) |
D307E |
probably damaging |
Het |
| Lca5 |
G |
A |
9: 83,277,707 (GRCm39) |
Q546* |
probably null |
Het |
| Mfsd4b1 |
T |
C |
10: 39,882,073 (GRCm39) |
T71A |
possibly damaging |
Het |
| Onecut1 |
A |
G |
9: 74,769,631 (GRCm39) |
H18R |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,212 (GRCm39) |
V288A |
probably benign |
Het |
| Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,595,093 (GRCm39) |
Q414K |
probably damaging |
Het |
| Ppp4r2 |
T |
C |
6: 100,829,558 (GRCm39) |
Y77H |
probably damaging |
Het |
| Prr19 |
A |
G |
7: 25,003,262 (GRCm39) |
D292G |
probably damaging |
Het |
| Pum1 |
G |
A |
4: 130,481,283 (GRCm39) |
R464H |
probably damaging |
Het |
| Rhoq |
G |
T |
17: 87,302,442 (GRCm39) |
R126L |
probably damaging |
Het |
| Sdhb |
A |
G |
4: 140,701,029 (GRCm39) |
K162E |
probably benign |
Het |
| Sema3d |
G |
A |
5: 12,613,231 (GRCm39) |
G436E |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,038,814 (GRCm39) |
M823K |
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,969,857 (GRCm39) |
E977D |
probably null |
Het |
| Tns2 |
A |
T |
15: 102,015,472 (GRCm39) |
M125L |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,542,313 (GRCm39) |
K31812* |
probably null |
Het |
| Ube4b |
G |
A |
4: 149,510,453 (GRCm39) |
|
probably benign |
Het |
| Vmn2r91 |
G |
A |
17: 18,355,865 (GRCm39) |
|
probably null |
Het |
| Zbtb49 |
G |
A |
5: 38,360,431 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
T |
A |
14: 20,768,594 (GRCm39) |
S1035T |
probably damaging |
Het |
|
| Other mutations in Fam149a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Fam149a
|
APN |
8 |
45,792,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00229:Fam149a
|
APN |
8 |
45,804,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01089:Fam149a
|
APN |
8 |
45,801,564 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01578:Fam149a
|
APN |
8 |
45,803,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03095:Fam149a
|
APN |
8 |
45,794,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03112:Fam149a
|
APN |
8 |
45,801,580 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
guangxi
|
UTSW |
8 |
45,834,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Fam149a
|
UTSW |
8 |
45,804,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0111:Fam149a
|
UTSW |
8 |
45,794,183 (GRCm39) |
splice site |
probably benign |
|
|
R0113:Fam149a
|
UTSW |
8 |
45,794,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Fam149a
|
UTSW |
8 |
45,808,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0604:Fam149a
|
UTSW |
8 |
45,798,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1441:Fam149a
|
UTSW |
8 |
45,808,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Fam149a
|
UTSW |
8 |
45,792,411 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1861:Fam149a
|
UTSW |
8 |
45,792,399 (GRCm39) |
nonsense |
probably null |
|
|
R1981:Fam149a
|
UTSW |
8 |
45,834,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Fam149a
|
UTSW |
8 |
45,806,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Fam149a
|
UTSW |
8 |
45,794,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3807:Fam149a
|
UTSW |
8 |
45,834,647 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4176:Fam149a
|
UTSW |
8 |
45,794,321 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4913:Fam149a
|
UTSW |
8 |
45,806,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5158:Fam149a
|
UTSW |
8 |
45,803,472 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5172:Fam149a
|
UTSW |
8 |
45,797,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5436:Fam149a
|
UTSW |
8 |
45,801,508 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6060:Fam149a
|
UTSW |
8 |
45,811,799 (GRCm39) |
intron |
probably benign |
|
|
R6590:Fam149a
|
UTSW |
8 |
45,802,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6596:Fam149a
|
UTSW |
8 |
45,834,667 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6690:Fam149a
|
UTSW |
8 |
45,802,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Fam149a
|
UTSW |
8 |
45,834,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Fam149a
|
UTSW |
8 |
45,834,478 (GRCm39) |
missense |
probably benign |
|
|
R6916:Fam149a
|
UTSW |
8 |
45,803,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Fam149a
|
UTSW |
8 |
45,803,582 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7219:Fam149a
|
UTSW |
8 |
45,803,600 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7352:Fam149a
|
UTSW |
8 |
45,794,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7454:Fam149a
|
UTSW |
8 |
45,801,583 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7591:Fam149a
|
UTSW |
8 |
45,803,472 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7788:Fam149a
|
UTSW |
8 |
45,834,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Fam149a
|
UTSW |
8 |
45,811,678 (GRCm39) |
missense |
|
|
|
R7915:Fam149a
|
UTSW |
8 |
45,794,280 (GRCm39) |
missense |
probably benign |
|
|
R8036:Fam149a
|
UTSW |
8 |
45,802,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8181:Fam149a
|
UTSW |
8 |
45,834,755 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8239:Fam149a
|
UTSW |
8 |
45,803,490 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8246:Fam149a
|
UTSW |
8 |
45,834,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8532:Fam149a
|
UTSW |
8 |
45,801,991 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8856:Fam149a
|
UTSW |
8 |
45,834,611 (GRCm39) |
missense |
|
|
|
R8986:Fam149a
|
UTSW |
8 |
45,811,837 (GRCm39) |
missense |
|
|
|
R9448:Fam149a
|
UTSW |
8 |
45,792,411 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9704:Fam149a
|
UTSW |
8 |
45,795,502 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9794:Fam149a
|
UTSW |
8 |
45,834,449 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1176:Fam149a
|
UTSW |
8 |
45,795,495 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAAGTCACTGAAGCCACTGAG -3'
(R):5'- TAACCTCTCCAGGACCAAGG -3'
Sequencing Primer
(F):5'- TGAAGCCACTGAGCCGGC -3'
(R):5'- TCTCCAGGACCAAGGCATGAAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation