Incidental Mutation 'IGL02898:Spata1'
| ID |
363491 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata1
|
| Ensembl Gene |
ENSMUSG00000028188 |
| Gene Name |
spermatogenesis associated 1 |
| Synonyms |
4921536I21Rik, SP-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
IGL02898
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
146162951-146205508 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 146181094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 288
(R288Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029839]
[ENSMUST00000195949]
[ENSMUST00000197980]
|
| AlphaFold |
Q9D5R4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029839
AA Change: R288Q
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188
AA Change: R288Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
227 |
N/A |
INTRINSIC |
|
Pfam:SPATA1_C
|
279 |
428 |
1.7e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123421
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195949
|
| SMART Domains |
Protein: ENSMUSP00000143495
Gene: ENSMUSG00000028188
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA1_C
|
11 |
137 |
1e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197684
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197980
AA Change: R288Q
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188
AA Change: R288Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
227 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
267 |
365 |
8e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
A |
G |
10: 80,178,065 (GRCm39) |
|
probably benign |
Het |
| Brd3 |
A |
G |
2: 27,349,753 (GRCm39) |
S267P |
possibly damaging |
Het |
| Btaf1 |
A |
G |
19: 36,946,468 (GRCm39) |
T425A |
probably benign |
Het |
| Caskin1 |
A |
T |
17: 24,721,383 (GRCm39) |
E544D |
probably benign |
Het |
| Col20a1 |
C |
T |
2: 180,630,905 (GRCm39) |
Q58* |
probably null |
Het |
| Eif2ak1 |
G |
A |
5: 143,826,270 (GRCm39) |
V428I |
probably damaging |
Het |
| Fez2 |
A |
G |
17: 78,692,184 (GRCm39) |
I345T |
probably benign |
Het |
| Focad |
A |
T |
4: 88,310,234 (GRCm39) |
M1388L |
probably benign |
Het |
| Gfer |
T |
C |
17: 24,914,921 (GRCm39) |
R41G |
probably benign |
Het |
| Gm9956 |
C |
T |
10: 56,621,350 (GRCm39) |
S4L |
unknown |
Het |
| Krtap6-1 |
G |
A |
16: 88,828,643 (GRCm39) |
G13D |
unknown |
Het |
| Megf8 |
A |
G |
7: 25,045,933 (GRCm39) |
E1492G |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,221,197 (GRCm39) |
I909V |
probably damaging |
Het |
| Or11g25 |
T |
A |
14: 50,723,643 (GRCm39) |
S243T |
probably damaging |
Het |
| Or1e21 |
T |
A |
11: 73,344,561 (GRCm39) |
H159L |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,959,562 (GRCm39) |
E717G |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,527,605 (GRCm39) |
I319M |
probably benign |
Het |
| Piwil4 |
A |
T |
9: 14,617,583 (GRCm39) |
|
probably benign |
Het |
| Plekho1 |
T |
A |
3: 95,899,493 (GRCm39) |
H100L |
probably damaging |
Het |
| Prr30 |
T |
G |
14: 101,435,917 (GRCm39) |
D215A |
probably benign |
Het |
| Prss52 |
C |
T |
14: 64,351,115 (GRCm39) |
A300V |
possibly damaging |
Het |
| Ralgps2 |
C |
A |
1: 156,645,314 (GRCm39) |
K514N |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,472 (GRCm39) |
I463T |
probably damaging |
Het |
| Sars1 |
A |
T |
3: 108,336,579 (GRCm39) |
F268Y |
probably damaging |
Het |
| Sidt1 |
C |
T |
16: 44,102,858 (GRCm39) |
R289Q |
possibly damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,940,023 (GRCm39) |
Y140F |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,956,805 (GRCm39) |
V539A |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,058,676 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,008,702 (GRCm39) |
D1944G |
probably benign |
Het |
| Tatdn3 |
T |
C |
1: 190,778,507 (GRCm39) |
*233W |
probably null |
Het |
| Ttc3 |
T |
A |
16: 94,220,285 (GRCm39) |
V536E |
probably damaging |
Het |
| V1rd19 |
A |
C |
7: 23,702,854 (GRCm39) |
T107P |
probably damaging |
Het |
|
| Other mutations in Spata1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01085:Spata1
|
APN |
3 |
146,181,997 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01306:Spata1
|
APN |
3 |
146,193,154 (GRCm39) |
nonsense |
probably null |
|
|
IGL01537:Spata1
|
APN |
3 |
146,195,558 (GRCm39) |
splice site |
probably benign |
|
|
IGL02363:Spata1
|
APN |
3 |
146,193,119 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02873:Spata1
|
APN |
3 |
146,193,122 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03071:Spata1
|
APN |
3 |
146,181,089 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03204:Spata1
|
APN |
3 |
146,194,434 (GRCm39) |
missense |
probably benign |
0.18 |
|
ANU23:Spata1
|
UTSW |
3 |
146,193,154 (GRCm39) |
nonsense |
probably null |
|
|
H8930:Spata1
|
UTSW |
3 |
146,193,026 (GRCm39) |
nonsense |
probably null |
|
|
R0414:Spata1
|
UTSW |
3 |
146,181,943 (GRCm39) |
splice site |
probably null |
|
|
R1109:Spata1
|
UTSW |
3 |
146,181,053 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1742:Spata1
|
UTSW |
3 |
146,175,378 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1816:Spata1
|
UTSW |
3 |
146,186,962 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2006:Spata1
|
UTSW |
3 |
146,199,438 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2851:Spata1
|
UTSW |
3 |
146,193,295 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2852:Spata1
|
UTSW |
3 |
146,193,295 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3416:Spata1
|
UTSW |
3 |
146,193,263 (GRCm39) |
splice site |
probably benign |
|
|
R3911:Spata1
|
UTSW |
3 |
146,181,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4856:Spata1
|
UTSW |
3 |
146,175,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4859:Spata1
|
UTSW |
3 |
146,175,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4886:Spata1
|
UTSW |
3 |
146,175,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6902:Spata1
|
UTSW |
3 |
146,181,078 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7459:Spata1
|
UTSW |
3 |
146,181,977 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7532:Spata1
|
UTSW |
3 |
146,173,946 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7997:Spata1
|
UTSW |
3 |
146,182,035 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8194:Spata1
|
UTSW |
3 |
146,195,614 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8673:Spata1
|
UTSW |
3 |
146,181,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-12-18 |
Incidental Mutation