Incidental Mutation 'R7141:Fam171a1'
| ID |
553321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam171a1
|
| Ensembl Gene |
ENSMUSG00000050530 |
| Gene Name |
family with sequence similarity 171, member A1 |
| Synonyms |
9630050M13Rik |
| MMRRC Submission |
045221-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R7141 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
3115261-3228843 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 3226189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 441
(Q441*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062934]
[ENSMUST00000072955]
[ENSMUST00000091505]
[ENSMUST00000115099]
|
| AlphaFold |
A2ATK9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062934
AA Change: Q436*
|
| SMART Domains |
Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: Q436*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0560
|
29 |
885 |
N/A |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000072955
AA Change: Q316*
|
| SMART Domains |
Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530
AA Change: Q316*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0560
|
1 |
765 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091505
|
| SMART Domains |
Protein: ENSMUSP00000089086
Gene: ENSMUSG00000050530
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:UPF0560
|
34 |
294 |
3.1e-146 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115099
AA Change: Q441*
|
| SMART Domains |
Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: Q441*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:UPF0560
|
34 |
890 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
C |
1: 74,323,270 (GRCm39) |
|
probably null |
Het |
| Abhd10 |
C |
T |
16: 45,563,169 (GRCm39) |
R29Q |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,640,620 (GRCm39) |
Y3369H |
probably benign |
Het |
| Agl |
A |
G |
3: 116,546,935 (GRCm39) |
I1305T |
probably benign |
Het |
| Apba3 |
A |
G |
10: 81,108,889 (GRCm39) |
I551V |
probably damaging |
Het |
| Appbp2 |
A |
T |
11: 85,082,577 (GRCm39) |
Y551* |
probably null |
Het |
| Btbd17 |
T |
C |
11: 114,682,641 (GRCm39) |
N357S |
possibly damaging |
Het |
| Casp2 |
T |
C |
6: 42,257,329 (GRCm39) |
F426S |
possibly damaging |
Het |
| Cdh5 |
A |
G |
8: 104,839,633 (GRCm39) |
N35D |
probably benign |
Het |
| Cep350 |
G |
T |
1: 155,790,494 (GRCm39) |
Q1354K |
probably damaging |
Het |
| Cep44 |
A |
G |
8: 56,992,886 (GRCm39) |
C243R |
probably damaging |
Het |
| Chst4 |
A |
T |
8: 110,757,471 (GRCm39) |
S131T |
probably damaging |
Het |
| Cox15 |
T |
C |
19: 43,725,186 (GRCm39) |
N406D |
probably benign |
Het |
| Cttnbp2 |
C |
T |
6: 18,380,467 (GRCm39) |
R1467H |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,158,984 (GRCm39) |
D1714G |
probably null |
Het |
| Erbb2 |
G |
T |
11: 98,318,135 (GRCm39) |
R457L |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,203,493 (GRCm39) |
N463S |
probably benign |
Het |
| Fam186b |
T |
A |
15: 99,181,773 (GRCm39) |
M142L |
probably benign |
Het |
| Git2 |
G |
T |
5: 114,907,759 (GRCm39) |
C35* |
probably null |
Het |
| Gm21103 |
T |
G |
14: 17,482,795 (GRCm39) |
Q202P |
probably damaging |
Het |
| Gm5622 |
G |
T |
14: 51,893,339 (GRCm39) |
E89* |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,250,908 (GRCm39) |
T790K |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,279,427 (GRCm39) |
L3114H |
probably damaging |
Het |
| Igkv3-10 |
A |
T |
6: 70,549,965 (GRCm39) |
Q37L |
possibly damaging |
Het |
| Kcp |
G |
T |
6: 29,487,511 (GRCm39) |
Y1106* |
probably null |
Het |
| Khsrp |
T |
C |
17: 57,332,602 (GRCm39) |
D226G |
possibly damaging |
Het |
| Klre1 |
T |
A |
6: 129,560,129 (GRCm39) |
W134R |
probably damaging |
Het |
| Lrrc66 |
A |
G |
5: 73,787,320 (GRCm39) |
I10T |
probably benign |
Het |
| Map4 |
T |
C |
9: 109,807,938 (GRCm39) |
M1T |
probably null |
Het |
| Met |
T |
A |
6: 17,527,154 (GRCm39) |
I535K |
probably benign |
Het |
| Mmut |
T |
C |
17: 41,263,730 (GRCm39) |
V500A |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,435 (GRCm39) |
V159A |
possibly damaging |
Het |
| Mrpl41 |
A |
G |
2: 24,864,468 (GRCm39) |
L68P |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,491,439 (GRCm39) |
W135R |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,692,965 (GRCm39) |
D1420G |
probably benign |
Het |
| Naglu |
A |
C |
11: 100,963,056 (GRCm39) |
D229A |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Ncln |
G |
T |
10: 81,323,683 (GRCm39) |
Y517* |
probably null |
Het |
| Nr1h4 |
G |
A |
10: 89,334,091 (GRCm39) |
R100* |
probably null |
Het |
| Or5k1 |
G |
A |
16: 58,617,771 (GRCm39) |
T146M |
probably benign |
Het |
| P2rx5 |
A |
T |
11: 73,051,474 (GRCm39) |
T18S |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,729,271 (GRCm39) |
S2710P |
unknown |
Het |
| Pdhx |
A |
T |
2: 102,903,659 (GRCm39) |
F46I |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,278,181 (GRCm39) |
L241* |
probably null |
Het |
| Pitpnm1 |
G |
A |
19: 4,152,787 (GRCm39) |
V65M |
probably damaging |
Het |
| Rgs3 |
A |
G |
4: 62,608,724 (GRCm39) |
D330G |
probably damaging |
Het |
| Scaf8 |
T |
C |
17: 3,209,457 (GRCm39) |
V60A |
unknown |
Het |
| Sema4c |
A |
G |
1: 36,592,101 (GRCm39) |
Y249H |
probably damaging |
Het |
| Spp2 |
T |
C |
1: 88,335,050 (GRCm39) |
Y27H |
probably damaging |
Het |
| Sugct |
T |
A |
13: 17,819,372 (GRCm39) |
I158F |
possibly damaging |
Het |
| Sympk |
A |
T |
7: 18,788,017 (GRCm39) |
I1178F |
probably benign |
Het |
| Tmppe |
T |
C |
9: 114,234,036 (GRCm39) |
Y112H |
probably benign |
Het |
| Trp53bp2 |
A |
G |
1: 182,276,073 (GRCm39) |
T187A |
|
Het |
| Tspoap1 |
A |
G |
11: 87,665,523 (GRCm39) |
S754G |
probably damaging |
Het |
| Vmn1r214 |
C |
T |
13: 23,218,839 (GRCm39) |
A111V |
probably benign |
Het |
| Vmn2r70 |
G |
C |
7: 85,208,044 (GRCm39) |
S811C |
probably benign |
Het |
| Zfp638 |
T |
C |
6: 83,844,181 (GRCm39) |
S15P |
unknown |
Het |
| Zfp763 |
A |
G |
17: 33,237,769 (GRCm39) |
S459P |
probably damaging |
Het |
|
| Other mutations in Fam171a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Fam171a1
|
APN |
2 |
3,179,327 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01138:Fam171a1
|
APN |
2 |
3,203,657 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01317:Fam171a1
|
APN |
2 |
3,203,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02377:Fam171a1
|
APN |
2 |
3,224,623 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02475:Fam171a1
|
APN |
2 |
3,224,527 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02477:Fam171a1
|
APN |
2 |
3,203,612 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
ghosted
|
UTSW |
2 |
3,226,189 (GRCm39) |
nonsense |
probably null |
|
|
R0167:Fam171a1
|
UTSW |
2 |
3,187,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Fam171a1
|
UTSW |
2 |
3,226,433 (GRCm39) |
missense |
probably benign |
|
|
R0468:Fam171a1
|
UTSW |
2 |
3,226,433 (GRCm39) |
missense |
probably benign |
|
|
R0811:Fam171a1
|
UTSW |
2 |
3,198,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Fam171a1
|
UTSW |
2 |
3,198,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1099:Fam171a1
|
UTSW |
2 |
3,226,354 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1694:Fam171a1
|
UTSW |
2 |
3,226,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1817:Fam171a1
|
UTSW |
2 |
3,179,410 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1869:Fam171a1
|
UTSW |
2 |
3,227,189 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1887:Fam171a1
|
UTSW |
2 |
3,221,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Fam171a1
|
UTSW |
2 |
3,226,656 (GRCm39) |
nonsense |
probably null |
|
|
R2355:Fam171a1
|
UTSW |
2 |
3,226,570 (GRCm39) |
nonsense |
probably null |
|
|
R3690:Fam171a1
|
UTSW |
2 |
3,227,393 (GRCm39) |
missense |
probably benign |
|
|
R3723:Fam171a1
|
UTSW |
2 |
3,221,412 (GRCm39) |
splice site |
probably benign |
|
|
R3978:Fam171a1
|
UTSW |
2 |
3,226,072 (GRCm39) |
missense |
probably benign |
|
|
R4087:Fam171a1
|
UTSW |
2 |
3,227,333 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4647:Fam171a1
|
UTSW |
2 |
3,221,328 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4744:Fam171a1
|
UTSW |
2 |
3,225,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Fam171a1
|
UTSW |
2 |
3,224,550 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4786:Fam171a1
|
UTSW |
2 |
3,226,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Fam171a1
|
UTSW |
2 |
3,224,546 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4982:Fam171a1
|
UTSW |
2 |
3,179,505 (GRCm39) |
splice site |
probably null |
|
|
R5137:Fam171a1
|
UTSW |
2 |
3,226,426 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5203:Fam171a1
|
UTSW |
2 |
3,224,582 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5233:Fam171a1
|
UTSW |
2 |
3,179,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Fam171a1
|
UTSW |
2 |
3,226,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Fam171a1
|
UTSW |
2 |
3,226,334 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5682:Fam171a1
|
UTSW |
2 |
3,227,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5865:Fam171a1
|
UTSW |
2 |
3,226,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6322:Fam171a1
|
UTSW |
2 |
3,227,392 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7082:Fam171a1
|
UTSW |
2 |
3,224,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7155:Fam171a1
|
UTSW |
2 |
3,226,766 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7243:Fam171a1
|
UTSW |
2 |
3,119,653 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7326:Fam171a1
|
UTSW |
2 |
3,227,509 (GRCm39) |
nonsense |
probably null |
|
|
R7477:Fam171a1
|
UTSW |
2 |
3,226,676 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7574:Fam171a1
|
UTSW |
2 |
3,221,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7745:Fam171a1
|
UTSW |
2 |
3,226,483 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7753:Fam171a1
|
UTSW |
2 |
3,179,354 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7871:Fam171a1
|
UTSW |
2 |
3,226,421 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7958:Fam171a1
|
UTSW |
2 |
3,179,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Fam171a1
|
UTSW |
2 |
3,221,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8793:Fam171a1
|
UTSW |
2 |
3,187,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8850:Fam171a1
|
UTSW |
2 |
3,221,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Fam171a1
|
UTSW |
2 |
3,226,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Fam171a1
|
UTSW |
2 |
3,227,434 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9090:Fam171a1
|
UTSW |
2 |
3,224,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9251:Fam171a1
|
UTSW |
2 |
3,226,525 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9271:Fam171a1
|
UTSW |
2 |
3,224,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9350:Fam171a1
|
UTSW |
2 |
3,226,037 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0019:Fam171a1
|
UTSW |
2 |
3,226,630 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1177:Fam171a1
|
UTSW |
2 |
3,225,971 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCAGATTATCCTGGGCCTC -3'
(R):5'- GCCAGGCCTTCTTGATCTTG -3'
Sequencing Primer
(F):5'- AGATTATCCTGGGCCTCTGTCTG -3'
(R):5'- CTTGCTTTTCAAACAAAGACTGGGAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation