Incidental Mutation 'R3690:Fam171a1'
ID |
269707 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam171a1
|
Ensembl Gene |
ENSMUSG00000050530 |
Gene Name |
family with sequence similarity 171, member A1 |
Synonyms |
9630050M13Rik |
MMRRC Submission |
040685-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R3690 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
3115261-3228843 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3227393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 842
(V842A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110751
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062934]
[ENSMUST00000072955]
[ENSMUST00000091505]
[ENSMUST00000115099]
|
AlphaFold |
A2ATK9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062934
AA Change: V837A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000053619 Gene: ENSMUSG00000050530 AA Change: V837A
Domain | Start | End | E-Value | Type |
Pfam:UPF0560
|
29 |
885 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072955
AA Change: V717A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000072724 Gene: ENSMUSG00000050530 AA Change: V717A
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 benign
Transcript: ENSMUST00000115099
AA Change: V842A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110751 Gene: ENSMUSG00000050530 AA Change: V842A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:UPF0560
|
34 |
890 |
N/A |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
A |
6: 23,091,328 (GRCm39) |
Y629F |
probably benign |
Het |
Abcb5 |
T |
A |
12: 118,836,668 (GRCm39) |
D1081V |
probably damaging |
Het |
Afdn |
A |
G |
17: 14,108,671 (GRCm39) |
E1398G |
probably damaging |
Het |
Atp8b5 |
T |
C |
4: 43,368,055 (GRCm39) |
C893R |
probably damaging |
Het |
Avl9 |
C |
T |
6: 56,713,812 (GRCm39) |
H357Y |
probably benign |
Het |
Bclaf1 |
C |
T |
10: 20,201,143 (GRCm39) |
T423I |
possibly damaging |
Het |
Btbd19 |
A |
T |
4: 116,977,789 (GRCm39) |
|
probably benign |
Het |
Cap1 |
A |
G |
4: 122,758,419 (GRCm39) |
S254P |
probably damaging |
Het |
Cdc42ep1 |
T |
C |
15: 78,731,629 (GRCm39) |
S25P |
probably benign |
Het |
Cln6 |
T |
C |
9: 62,754,252 (GRCm39) |
I98T |
possibly damaging |
Het |
Cul9 |
T |
C |
17: 46,814,957 (GRCm39) |
|
probably null |
Het |
Dcx |
T |
C |
X: 142,660,240 (GRCm39) |
E268G |
possibly damaging |
Het |
Ddias |
G |
A |
7: 92,509,366 (GRCm39) |
P183L |
probably benign |
Het |
Dnase2b |
A |
T |
3: 146,299,326 (GRCm39) |
Y42* |
probably null |
Het |
Dusp16 |
C |
T |
6: 134,738,082 (GRCm39) |
|
probably benign |
Het |
Egfr |
T |
C |
11: 16,821,881 (GRCm39) |
|
probably benign |
Het |
Folr1 |
T |
C |
7: 101,507,745 (GRCm39) |
S232G |
probably benign |
Het |
Foxj3 |
T |
C |
4: 119,473,839 (GRCm39) |
|
probably benign |
Het |
Fpr-rs6 |
T |
C |
17: 20,403,137 (GRCm39) |
M75V |
probably benign |
Het |
Fxyd5 |
G |
T |
7: 30,735,864 (GRCm39) |
L128M |
possibly damaging |
Het |
Gigyf2 |
T |
C |
1: 87,349,238 (GRCm39) |
S500P |
possibly damaging |
Het |
Inppl1 |
A |
G |
7: 101,481,275 (GRCm39) |
L268P |
probably damaging |
Het |
Klk1b24 |
A |
T |
7: 43,841,243 (GRCm39) |
H192L |
probably benign |
Het |
Llgl1 |
T |
G |
11: 60,597,828 (GRCm39) |
Y316D |
probably damaging |
Het |
Lmbrd1 |
T |
A |
1: 24,801,374 (GRCm39) |
*143R |
probably null |
Het |
Map3k15 |
T |
A |
X: 158,905,568 (GRCm39) |
N1295K |
possibly damaging |
Het |
Mcm3ap |
A |
G |
10: 76,318,513 (GRCm39) |
E678G |
probably damaging |
Het |
Mrpl44 |
T |
A |
1: 79,757,366 (GRCm39) |
Y270* |
probably null |
Het |
Nav1 |
T |
A |
1: 135,395,382 (GRCm39) |
I996L |
probably benign |
Het |
Neb |
T |
C |
2: 52,027,397 (GRCm39) |
E6868G |
probably damaging |
Het |
Nexmif |
A |
T |
X: 103,131,213 (GRCm39) |
Y235N |
probably damaging |
Het |
Nup50 |
C |
T |
15: 84,823,994 (GRCm39) |
T449M |
probably damaging |
Het |
Or14a256 |
G |
A |
7: 86,265,686 (GRCm39) |
P56S |
probably damaging |
Het |
Or2b6 |
A |
G |
13: 21,823,508 (GRCm39) |
F62L |
probably damaging |
Het |
Or51aa2 |
T |
C |
7: 103,188,274 (GRCm39) |
T56A |
probably benign |
Het |
Or52e8b |
A |
G |
7: 104,673,902 (GRCm39) |
L95P |
probably damaging |
Het |
Or52n2 |
T |
C |
7: 104,542,724 (GRCm39) |
Y37C |
possibly damaging |
Het |
Pald1 |
A |
T |
10: 61,191,587 (GRCm39) |
|
probably null |
Het |
Pde11a |
T |
A |
2: 76,121,510 (GRCm39) |
K357I |
probably damaging |
Het |
Ric3 |
A |
G |
7: 108,637,817 (GRCm39) |
V312A |
possibly damaging |
Het |
Scaper |
C |
T |
9: 55,791,205 (GRCm39) |
G231D |
probably benign |
Het |
Smc1b |
T |
A |
15: 85,001,464 (GRCm39) |
|
probably benign |
Het |
Smcr8 |
A |
G |
11: 60,668,854 (GRCm39) |
M1V |
probably null |
Het |
Smtn |
T |
C |
11: 3,477,687 (GRCm39) |
|
probably benign |
Het |
Spatc1 |
A |
T |
15: 76,152,495 (GRCm39) |
K42* |
probably null |
Het |
Taf7l |
A |
T |
X: 133,365,074 (GRCm39) |
I449K |
probably damaging |
Het |
Tex47 |
A |
G |
5: 7,354,777 (GRCm39) |
|
probably benign |
Het |
Tram2 |
T |
A |
1: 21,075,824 (GRCm39) |
Y198F |
probably damaging |
Het |
Ttn |
C |
G |
2: 76,629,588 (GRCm39) |
W14284C |
probably damaging |
Het |
Ube3a |
A |
G |
7: 58,926,547 (GRCm39) |
K442E |
probably damaging |
Het |
Vmn2r116 |
T |
A |
17: 23,603,798 (GRCm39) |
F8I |
unknown |
Het |
Vmn2r59 |
A |
G |
7: 41,661,370 (GRCm39) |
F815S |
possibly damaging |
Het |
Zap70 |
T |
C |
1: 36,820,493 (GRCm39) |
C563R |
probably damaging |
Het |
Zfp579 |
T |
C |
7: 4,997,719 (GRCm39) |
H64R |
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 |
|
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 |
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'- ATGAACCAAAATCTGCCCGG -3'
(R):5'- TAGGGGCTTATCGATGGCTC -3'
Sequencing Primer
(F):5'- AGAGCTCCCGACAGCACTG -3'
(R):5'- CTCATTTGATGTTGAAGGCCATC -3'
|
Posted On |
2015-02-19 |