Incidental Mutation 'IGL01979:Fam91a1'
| ID |
181793 |
| 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 # |
IGL01979
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
58287317-58329589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58304433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 383
(D383G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036524
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037270]
|
| AlphaFold |
Q3UVG3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037270
AA Change: D383G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036524
Gene: ENSMUSG00000037119
AA Change: D383G
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,584,971 (GRCm39) |
L394* |
probably null |
Het |
| Cdk2ap1 |
C |
T |
5: 124,486,772 (GRCm39) |
V57M |
probably damaging |
Het |
| Csnk2b |
T |
A |
17: 35,336,992 (GRCm39) |
N65I |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,801,691 (GRCm39) |
E945K |
probably benign |
Het |
| Eif2b2 |
A |
G |
12: 85,266,608 (GRCm39) |
D59G |
probably benign |
Het |
| Ero1a |
A |
T |
14: 45,525,201 (GRCm39) |
N441K |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,789,649 (GRCm39) |
S26I |
probably damaging |
Het |
| Il20 |
A |
T |
1: 130,838,839 (GRCm39) |
I42K |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,540,790 (GRCm39) |
F1947L |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,983,261 (GRCm39) |
|
probably null |
Het |
| Numb |
G |
T |
12: 83,889,051 (GRCm39) |
H23N |
probably damaging |
Het |
| Or10q3 |
G |
A |
19: 11,848,587 (GRCm39) |
|
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,648 (GRCm39) |
I210V |
probably benign |
Het |
| Ppp1r1b |
C |
T |
11: 98,247,666 (GRCm39) |
T111I |
probably damaging |
Het |
| Rad50 |
G |
A |
11: 53,577,005 (GRCm39) |
Q528* |
probably null |
Het |
| Scara3 |
A |
T |
14: 66,168,412 (GRCm39) |
S402T |
probably benign |
Het |
| Septin3 |
A |
G |
15: 82,168,593 (GRCm39) |
Y132C |
probably damaging |
Het |
| Sim2 |
C |
A |
16: 93,924,341 (GRCm39) |
N495K |
possibly damaging |
Het |
| Slc9b1 |
A |
G |
3: 135,077,743 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,667,746 (GRCm39) |
D109G |
probably benign |
Het |
| Tex55 |
A |
C |
16: 38,648,255 (GRCm39) |
S285A |
possibly damaging |
Het |
| Traf1 |
T |
C |
2: 34,833,905 (GRCm39) |
I404V |
probably benign |
Het |
| Vmn2r68 |
C |
A |
7: 84,871,325 (GRCm39) |
V653L |
probably benign |
Het |
| Wdr93 |
A |
T |
7: 79,426,400 (GRCm39) |
Q555L |
probably benign |
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 |
|
IGL01372:Fam91a1
|
APN |
15 |
58,301,911 (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 |
2014-05-07 |
Incidental Mutation