Incidental Mutation 'IGL00590:Fam91a1'
| ID |
4095 |
| 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 # |
IGL00590
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
58287317-58329589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58287565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 4
(D4G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036524
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037270]
|
| AlphaFold |
Q3UVG3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037270
AA Change: D4G
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000036524
Gene: ENSMUSG00000037119
AA Change: D4G
| 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: ENSMUST00000227769
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
G |
7: 120,023,038 (GRCm39) |
F58C |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,764,038 (GRCm39) |
G1320V |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,260,417 (GRCm39) |
K211E |
probably benign |
Het |
| Akap8l |
T |
C |
17: 32,552,071 (GRCm39) |
D402G |
possibly damaging |
Het |
| Akna |
T |
C |
4: 63,290,115 (GRCm39) |
I1198V |
probably benign |
Het |
| Apaf1 |
T |
A |
10: 90,859,650 (GRCm39) |
I832F |
probably damaging |
Het |
| Cbl |
A |
C |
9: 44,112,495 (GRCm39) |
L67V |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,670,022 (GRCm39) |
Y471H |
probably benign |
Het |
| Cystm1 |
T |
A |
18: 36,499,728 (GRCm39) |
Y48N |
unknown |
Het |
| Dennd5b |
T |
C |
6: 148,969,806 (GRCm39) |
T216A |
probably benign |
Het |
| Dpep2 |
A |
T |
8: 106,715,453 (GRCm39) |
M356K |
probably damaging |
Het |
| Dtymk |
A |
G |
1: 93,722,446 (GRCm39) |
|
probably null |
Het |
| Fbxl20 |
A |
G |
11: 97,983,955 (GRCm39) |
L306P |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,098,946 (GRCm39) |
|
probably benign |
Het |
| Fndc1 |
G |
A |
17: 7,983,933 (GRCm39) |
T1331I |
unknown |
Het |
| Gpatch8 |
T |
C |
11: 102,371,375 (GRCm39) |
D721G |
unknown |
Het |
| Gsg1 |
A |
T |
6: 135,221,348 (GRCm39) |
I17N |
possibly damaging |
Het |
| Heyl |
A |
G |
4: 123,140,423 (GRCm39) |
*327W |
probably null |
Het |
| Kif13b |
G |
T |
14: 65,016,911 (GRCm39) |
R1359L |
probably damaging |
Het |
| Map3k14 |
C |
T |
11: 103,128,380 (GRCm39) |
G414S |
probably damaging |
Het |
| Meis2 |
C |
T |
2: 115,699,274 (GRCm39) |
A330T |
probably damaging |
Het |
| Mrpl9 |
T |
C |
3: 94,351,003 (GRCm39) |
L61P |
probably damaging |
Het |
| Mrps6 |
A |
G |
16: 91,896,548 (GRCm39) |
N38D |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,575,465 (GRCm39) |
T1407I |
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,599,708 (GRCm39) |
Y604H |
probably damaging |
Het |
| Pgm2l1 |
T |
C |
7: 99,904,826 (GRCm39) |
|
probably null |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,308,520 (GRCm39) |
F52S |
probably damaging |
Het |
| Rnft1 |
T |
A |
11: 86,386,740 (GRCm39) |
W383R |
probably damaging |
Het |
| Tas2r104 |
A |
T |
6: 131,662,530 (GRCm39) |
W60R |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,598,373 (GRCm39) |
T120A |
probably benign |
Het |
| Tmem150b |
T |
G |
7: 4,726,896 (GRCm39) |
I71L |
probably benign |
Het |
| Zfp296 |
A |
G |
7: 19,311,760 (GRCm39) |
D89G |
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 |
|
IGL01301:Fam91a1
|
APN |
15 |
58,314,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01372:Fam91a1
|
APN |
15 |
58,301,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-04-20 |
Incidental Mutation