Incidental Mutation 'R5475:Fam171a1'
| ID |
434001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam171a1
|
| Ensembl Gene |
ENSMUSG00000050530 |
| Gene Name |
family with sequence similarity 171, member A1 |
| Synonyms |
9630050M13Rik |
| MMRRC Submission |
043036-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R5475 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
3115261-3228843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3226334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 489
(Y489F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062934]
[ENSMUST00000072955]
[ENSMUST00000091505]
[ENSMUST00000115099]
|
| AlphaFold |
A2ATK9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062934
AA Change: Y484F
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: Y484F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0560
|
29 |
885 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072955
AA Change: Y364F
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530
AA Change: Y364F
| 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 |
possibly damaging
Transcript: ENSMUST00000115099
AA Change: Y489F
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: Y489F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:UPF0560
|
34 |
890 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.1492 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.8%
|
| Validation Efficiency |
96% (72/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| AA467197 |
A |
G |
2: 122,482,646 (GRCm39) |
K70R |
probably damaging |
Het |
| Agr3 |
A |
G |
12: 35,997,539 (GRCm39) |
N83S |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,440,083 (GRCm39) |
T904A |
probably benign |
Het |
| Ank |
A |
T |
15: 27,557,285 (GRCm39) |
K156N |
probably damaging |
Het |
| Arsb |
T |
G |
13: 93,998,773 (GRCm39) |
D360E |
probably benign |
Het |
| Atg14 |
C |
T |
14: 47,805,793 (GRCm39) |
R24Q |
possibly damaging |
Het |
| Cacna1e |
A |
T |
1: 154,601,455 (GRCm39) |
F71I |
possibly damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,361,101 (GRCm39) |
I242T |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 95,978,597 (GRCm39) |
I588N |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,651,537 (GRCm39) |
H1158R |
probably null |
Het |
| Cse1l |
T |
C |
2: 166,783,174 (GRCm39) |
S684P |
probably damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,318,731 (GRCm39) |
M404L |
possibly damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dph7 |
A |
T |
2: 24,858,969 (GRCm39) |
|
probably null |
Het |
| Dsg1c |
A |
T |
18: 20,415,088 (GRCm39) |
N662Y |
probably damaging |
Het |
| Efcab9 |
T |
G |
11: 32,472,862 (GRCm39) |
D195A |
probably damaging |
Het |
| Ephb4 |
A |
G |
5: 137,352,701 (GRCm39) |
M95V |
probably benign |
Het |
| Fars2 |
T |
C |
13: 36,388,553 (GRCm39) |
I14T |
probably benign |
Het |
| Fbxo34 |
T |
C |
14: 47,766,802 (GRCm39) |
V54A |
probably benign |
Het |
| Fbxw17 |
T |
C |
13: 50,579,684 (GRCm39) |
I167T |
probably benign |
Het |
| Fzd9 |
A |
T |
5: 135,279,123 (GRCm39) |
|
probably null |
Het |
| Gm26996 |
T |
A |
6: 130,556,918 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4744 |
A |
G |
6: 40,927,388 (GRCm39) |
|
probably benign |
Het |
| Gm4744 |
T |
A |
6: 40,927,403 (GRCm39) |
|
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Has1 |
C |
A |
17: 18,068,583 (GRCm39) |
R257L |
possibly damaging |
Het |
| Hjv |
T |
C |
3: 96,434,599 (GRCm39) |
S113P |
probably benign |
Het |
| Hsd17b8 |
C |
T |
17: 34,246,287 (GRCm39) |
|
probably benign |
Het |
| Kat2b |
T |
G |
17: 53,970,609 (GRCm39) |
V665G |
probably damaging |
Het |
| Klhdc4 |
T |
A |
8: 122,526,311 (GRCm39) |
H276L |
possibly damaging |
Het |
| Klhl6 |
A |
T |
16: 19,766,877 (GRCm39) |
C506S |
probably damaging |
Het |
| Ldb2 |
T |
C |
5: 44,699,174 (GRCm39) |
Y88C |
probably damaging |
Het |
| Lrit1 |
A |
G |
14: 36,776,958 (GRCm39) |
E26G |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,889,541 (GRCm39) |
Y414C |
probably damaging |
Het |
| Mfsd5 |
A |
G |
15: 102,188,928 (GRCm39) |
D100G |
probably damaging |
Het |
| Micall2 |
T |
A |
5: 139,702,224 (GRCm39) |
S340C |
probably damaging |
Het |
| Npsr1 |
T |
C |
9: 24,211,715 (GRCm39) |
I81T |
probably damaging |
Het |
| Or2bd2 |
G |
T |
7: 6,443,169 (GRCm39) |
R90L |
probably benign |
Het |
| Or2t49 |
A |
G |
11: 58,392,431 (GRCm39) |
V317A |
probably benign |
Het |
| Or6x1 |
T |
A |
9: 40,099,005 (GRCm39) |
L198H |
possibly damaging |
Het |
| Or8b56 |
T |
A |
9: 38,739,762 (GRCm39) |
F258L |
possibly damaging |
Het |
| Pax3 |
T |
C |
1: 78,080,055 (GRCm39) |
T444A |
probably benign |
Het |
| Pea15a |
A |
G |
1: 172,026,809 (GRCm39) |
|
probably null |
Het |
| Phc1 |
T |
A |
6: 122,311,051 (GRCm39) |
Q95L |
possibly damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,594 (GRCm39) |
Y361C |
probably damaging |
Het |
| Pphln1-ps1 |
A |
T |
16: 13,494,977 (GRCm39) |
R25S |
possibly damaging |
Het |
| Rad54l2 |
C |
T |
9: 106,583,057 (GRCm39) |
G787D |
probably damaging |
Het |
| Rbm20 |
G |
T |
19: 53,823,136 (GRCm39) |
E578* |
probably null |
Het |
| Sipa1l2 |
A |
T |
8: 126,218,334 (GRCm39) |
D334E |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Thumpd1 |
A |
G |
7: 119,319,943 (GRCm39) |
S8P |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,908,567 (GRCm39) |
Y1407H |
probably damaging |
Het |
| Trav2 |
T |
A |
14: 52,805,290 (GRCm39) |
V37E |
probably damaging |
Het |
| Trav3-1 |
G |
T |
14: 52,818,494 (GRCm39) |
W56L |
probably damaging |
Het |
| Usp31 |
A |
T |
7: 121,250,749 (GRCm39) |
L808Q |
probably damaging |
Het |
| Vmn1r52 |
C |
T |
6: 90,155,894 (GRCm39) |
A66V |
probably benign |
Het |
| Vmn2r105 |
T |
A |
17: 20,455,044 (GRCm39) |
I31L |
probably benign |
Het |
| Wdr1 |
C |
T |
5: 38,686,931 (GRCm39) |
G278S |
probably damaging |
Het |
| Zbtb2 |
G |
T |
10: 4,319,275 (GRCm39) |
F250L |
probably benign |
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 |
|
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 |
|
R7141:Fam171a1
|
UTSW |
2 |
3,226,189 (GRCm39) |
nonsense |
probably null |
|
|
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'- CTGCTGTCCCACAAAGAAGAGG -3'
(R):5'- CTACAGCAGATCAACTGGCCTG -3'
Sequencing Primer
(F):5'- GAGGATAAAAGCCAAACATCTTTTG -3'
(R):5'- TAGGTCTCTCCAGGTGATCGACAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation