Incidental Mutation 'IGL00535:Spata7'
| ID |
4378 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata7
|
| Ensembl Gene |
ENSMUSG00000021007 |
| Gene Name |
spermatogenesis associated 7 |
| Synonyms |
B230306G18Rik, HSD3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
IGL00535
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
98594416-98636074 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 98635099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 345
(E345A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048402]
[ENSMUST00000101144]
[ENSMUST00000101146]
|
| AlphaFold |
Q80VP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048402
AA Change: E377A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045827
Gene: ENSMUSG00000021007
AA Change: E377A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSD3
|
9 |
410 |
1e-190 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000101144
AA Change: E210A
|
| SMART Domains |
Protein: ENSMUSP00000098704
Gene: ENSMUSG00000021007
AA Change: E210A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSD3
|
6 |
131 |
7.5e-73 |
PFAM |
|
Pfam:HSD3
|
122 |
244 |
6e-63 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101146
AA Change: E345A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098705
Gene: ENSMUSG00000021007
AA Change: E345A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSD3
|
6 |
33 |
1e-11 |
PFAM |
|
Pfam:HSD3
|
31 |
379 |
2.1e-171 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152482
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele display progressive retinal rod cell degeneration, a thin retinal outer nuclear layer and impaired scotopic responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
T |
G |
17: 79,935,328 (GRCm39) |
|
probably benign |
Het |
| Armc3 |
A |
G |
2: 19,308,669 (GRCm39) |
E767G |
possibly damaging |
Het |
| Btaf1 |
A |
T |
19: 36,974,935 (GRCm39) |
D1403V |
probably damaging |
Het |
| Chd2 |
C |
A |
7: 73,190,576 (GRCm39) |
M2I |
probably benign |
Het |
| Cyp2r1 |
C |
A |
7: 114,151,061 (GRCm39) |
M419I |
probably benign |
Het |
| Dnttip2 |
A |
T |
3: 122,078,148 (GRCm39) |
R727W |
probably damaging |
Het |
| Gtf3c1 |
G |
T |
7: 125,243,325 (GRCm39) |
H1760N |
probably benign |
Het |
| Iffo1 |
C |
T |
6: 125,137,516 (GRCm39) |
A532V |
probably damaging |
Het |
| Ints6 |
T |
C |
14: 62,940,628 (GRCm39) |
D574G |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,503,172 (GRCm39) |
S671T |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Spam1 |
T |
A |
6: 24,796,722 (GRCm39) |
Y224* |
probably null |
Het |
| Spata6l |
T |
A |
19: 28,937,073 (GRCm39) |
|
probably benign |
Het |
| Tbc1d32 |
A |
G |
10: 56,091,221 (GRCm39) |
|
probably benign |
Het |
| Tex28 |
T |
C |
X: 73,204,647 (GRCm39) |
H215R |
probably damaging |
Het |
| Tmigd3 |
A |
T |
3: 105,824,384 (GRCm39) |
R118* |
probably null |
Het |
| Wnk4 |
T |
A |
11: 101,155,175 (GRCm39) |
M362K |
probably damaging |
Het |
|
| Other mutations in Spata7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02283:Spata7
|
APN |
12 |
98,624,517 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02379:Spata7
|
APN |
12 |
98,600,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0200:Spata7
|
UTSW |
12 |
98,629,428 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0422:Spata7
|
UTSW |
12 |
98,624,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0847:Spata7
|
UTSW |
12 |
98,614,689 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1228:Spata7
|
UTSW |
12 |
98,600,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1497:Spata7
|
UTSW |
12 |
98,635,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1693:Spata7
|
UTSW |
12 |
98,630,516 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2183:Spata7
|
UTSW |
12 |
98,603,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Spata7
|
UTSW |
12 |
98,624,709 (GRCm39) |
missense |
probably benign |
|
|
R3176:Spata7
|
UTSW |
12 |
98,603,857 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3177:Spata7
|
UTSW |
12 |
98,603,857 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3276:Spata7
|
UTSW |
12 |
98,603,857 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3277:Spata7
|
UTSW |
12 |
98,603,857 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3951:Spata7
|
UTSW |
12 |
98,635,732 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4698:Spata7
|
UTSW |
12 |
98,630,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4919:Spata7
|
UTSW |
12 |
98,614,712 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5088:Spata7
|
UTSW |
12 |
98,635,761 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5583:Spata7
|
UTSW |
12 |
98,635,590 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6414:Spata7
|
UTSW |
12 |
98,629,479 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6451:Spata7
|
UTSW |
12 |
98,624,596 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7167:Spata7
|
UTSW |
12 |
98,630,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Spata7
|
UTSW |
12 |
98,624,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8731:Spata7
|
UTSW |
12 |
98,624,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8778:Spata7
|
UTSW |
12 |
98,624,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9173:Spata7
|
UTSW |
12 |
98,603,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9379:Spata7
|
UTSW |
12 |
98,600,548 (GRCm39) |
missense |
probably benign |
|
|
R9572:Spata7
|
UTSW |
12 |
98,614,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9597:Spata7
|
UTSW |
12 |
98,600,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation