Incidental Mutation 'IGL01372:Fam91a1'
ID |
76168 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam91a1
|
Ensembl Gene |
ENSMUSG00000037119 |
Gene Name |
family with sequence similarity 91, member A1 |
Synonyms |
D15Ertd621e |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01372
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
58287317-58329589 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58301911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 258
(I258M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036524
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037270]
|
AlphaFold |
Q3UVG3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037270
AA Change: I258M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036524 Gene: ENSMUSG00000037119 AA Change: I258M
Domain | Start | End | E-Value | Type |
Pfam:FAM91_N
|
8 |
312 |
2.8e-149 |
PFAM |
Pfam:FAM91_C
|
374 |
821 |
3.8e-182 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227770
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227796
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit male infertility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
A |
10: 79,842,089 (GRCm39) |
D1049N |
probably benign |
Het |
Ankdd1a |
A |
T |
9: 65,411,421 (GRCm39) |
L362Q |
probably damaging |
Het |
Ankib1 |
A |
T |
5: 3,822,594 (GRCm39) |
N37K |
probably damaging |
Het |
Ankrd55 |
T |
A |
13: 112,459,677 (GRCm39) |
D90E |
probably damaging |
Het |
Atp1a2 |
T |
C |
1: 172,106,510 (GRCm39) |
R831G |
probably damaging |
Het |
Bcar3 |
A |
G |
3: 122,316,943 (GRCm39) |
D638G |
probably damaging |
Het |
Cabp4 |
T |
A |
19: 4,189,322 (GRCm39) |
E78D |
probably benign |
Het |
Cmtm8 |
A |
G |
9: 114,619,755 (GRCm39) |
V130A |
possibly damaging |
Het |
Cyth3 |
A |
G |
5: 143,678,393 (GRCm39) |
T66A |
possibly damaging |
Het |
Dmbt1 |
A |
T |
7: 130,705,409 (GRCm39) |
I1171F |
possibly damaging |
Het |
Dnah10 |
G |
A |
5: 124,856,218 (GRCm39) |
G2060D |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,156,134 (GRCm39) |
H172R |
probably damaging |
Het |
Dnah5 |
C |
T |
15: 28,230,636 (GRCm39) |
A178V |
probably benign |
Het |
Efcab6 |
T |
G |
15: 83,928,505 (GRCm39) |
M30L |
possibly damaging |
Het |
Ehbp1l1 |
T |
C |
19: 5,765,817 (GRCm39) |
|
probably benign |
Het |
Eps15 |
G |
A |
4: 109,179,303 (GRCm39) |
E230K |
probably damaging |
Het |
Gm5581 |
G |
A |
6: 131,145,366 (GRCm39) |
|
noncoding transcript |
Het |
Hrh1 |
G |
A |
6: 114,456,958 (GRCm39) |
V80I |
probably damaging |
Het |
Ldhd |
G |
A |
8: 112,355,032 (GRCm39) |
H290Y |
probably benign |
Het |
Lepr |
G |
A |
4: 101,592,774 (GRCm39) |
E130K |
possibly damaging |
Het |
Mycbpap |
T |
C |
11: 94,397,282 (GRCm39) |
I40V |
possibly damaging |
Het |
Nrap |
T |
A |
19: 56,317,534 (GRCm39) |
|
probably null |
Het |
Opn5 |
T |
A |
17: 42,891,435 (GRCm39) |
|
probably null |
Het |
Or1j14 |
T |
A |
2: 36,417,463 (GRCm39) |
I13N |
probably benign |
Het |
Or5ac24 |
A |
G |
16: 59,165,524 (GRCm39) |
I180T |
probably damaging |
Het |
Otop3 |
A |
T |
11: 115,235,930 (GRCm39) |
T521S |
possibly damaging |
Het |
Pcsk5 |
T |
G |
19: 17,595,108 (GRCm39) |
T409P |
probably damaging |
Het |
Pde9a |
T |
A |
17: 31,680,685 (GRCm39) |
F322Y |
probably benign |
Het |
Pgm5 |
T |
A |
19: 24,710,985 (GRCm39) |
I406F |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,113,942 (GRCm39) |
S1998P |
probably damaging |
Het |
Prune2 |
T |
C |
19: 17,102,433 (GRCm39) |
Y2531H |
probably damaging |
Het |
Ptprk |
T |
C |
10: 28,445,923 (GRCm39) |
V932A |
probably benign |
Het |
Rapgef6 |
T |
A |
11: 54,559,437 (GRCm39) |
|
probably benign |
Het |
Rgsl1 |
T |
A |
1: 153,701,887 (GRCm39) |
Y224F |
probably damaging |
Het |
Rps6kl1 |
A |
T |
12: 85,193,663 (GRCm39) |
C143S |
probably damaging |
Het |
S100a7l2 |
A |
G |
3: 90,995,616 (GRCm39) |
|
probably benign |
Het |
Slc5a5 |
G |
A |
8: 71,343,020 (GRCm39) |
|
probably benign |
Het |
Tfb2m |
A |
G |
1: 179,369,878 (GRCm39) |
S182P |
probably damaging |
Het |
Tmc3 |
A |
G |
7: 83,261,746 (GRCm39) |
H608R |
probably damaging |
Het |
Trim37 |
T |
A |
11: 87,075,772 (GRCm39) |
H459Q |
probably benign |
Het |
Vmn2r71 |
A |
T |
7: 85,270,022 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,344,334 (GRCm39) |
S2192P |
possibly damaging |
Het |
|
Other mutations in Fam91a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Fam91a1
|
APN |
15 |
58,302,584 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00590:Fam91a1
|
APN |
15 |
58,287,565 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01301:Fam91a1
|
APN |
15 |
58,314,720 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01979:Fam91a1
|
APN |
15 |
58,304,433 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02085:Fam91a1
|
APN |
15 |
58,313,505 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02553:Fam91a1
|
APN |
15 |
58,304,831 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02605:Fam91a1
|
APN |
15 |
58,303,045 (GRCm39) |
splice site |
probably benign |
|
IGL02882:Fam91a1
|
APN |
15 |
58,324,910 (GRCm39) |
splice site |
probably benign |
|
IGL02894:Fam91a1
|
APN |
15 |
58,315,080 (GRCm39) |
missense |
probably benign |
0.09 |
ANU18:Fam91a1
|
UTSW |
15 |
58,314,720 (GRCm39) |
missense |
probably damaging |
0.99 |
H8562:Fam91a1
|
UTSW |
15 |
58,298,970 (GRCm39) |
splice site |
probably null |
|
R0395:Fam91a1
|
UTSW |
15 |
58,326,641 (GRCm39) |
missense |
probably benign |
|
R1165:Fam91a1
|
UTSW |
15 |
58,302,518 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1699:Fam91a1
|
UTSW |
15 |
58,304,797 (GRCm39) |
missense |
probably benign |
0.04 |
R1749:Fam91a1
|
UTSW |
15 |
58,298,443 (GRCm39) |
missense |
probably benign |
0.02 |
R1997:Fam91a1
|
UTSW |
15 |
58,296,044 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2042:Fam91a1
|
UTSW |
15 |
58,298,443 (GRCm39) |
missense |
probably benign |
0.02 |
R2188:Fam91a1
|
UTSW |
15 |
58,302,512 (GRCm39) |
missense |
probably damaging |
0.98 |
R2518:Fam91a1
|
UTSW |
15 |
58,322,449 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3124:Fam91a1
|
UTSW |
15 |
58,293,738 (GRCm39) |
missense |
probably benign |
0.34 |
R3916:Fam91a1
|
UTSW |
15 |
58,302,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R4810:Fam91a1
|
UTSW |
15 |
58,306,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R4959:Fam91a1
|
UTSW |
15 |
58,303,059 (GRCm39) |
missense |
probably benign |
0.16 |
R4973:Fam91a1
|
UTSW |
15 |
58,303,059 (GRCm39) |
missense |
probably benign |
0.16 |
R5288:Fam91a1
|
UTSW |
15 |
58,320,243 (GRCm39) |
missense |
probably benign |
|
R5385:Fam91a1
|
UTSW |
15 |
58,320,243 (GRCm39) |
missense |
probably benign |
|
R5386:Fam91a1
|
UTSW |
15 |
58,320,243 (GRCm39) |
missense |
probably benign |
|
R5941:Fam91a1
|
UTSW |
15 |
58,303,166 (GRCm39) |
missense |
probably benign |
0.01 |
R6415:Fam91a1
|
UTSW |
15 |
58,314,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R6869:Fam91a1
|
UTSW |
15 |
58,303,117 (GRCm39) |
missense |
probably benign |
0.00 |
R7175:Fam91a1
|
UTSW |
15 |
58,302,527 (GRCm39) |
missense |
probably benign |
0.06 |
R7872:Fam91a1
|
UTSW |
15 |
58,320,209 (GRCm39) |
missense |
probably benign |
0.01 |
X0024:Fam91a1
|
UTSW |
15 |
58,302,038 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Fam91a1
|
UTSW |
15 |
58,304,397 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Posted On |
2013-10-07 |