Incidental Mutation 'IGL03071:Spata1'
| ID |
417533 |
| 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 # |
IGL03071
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
146162951-146205508 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 146181089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 290
(Y290H)
|
| 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: Y290H
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188
AA Change: Y290H
| 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: Y290H
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188
AA Change: Y290H
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
A |
8: 41,278,104 (GRCm39) |
L165H |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,989,282 (GRCm39) |
I3522T |
possibly damaging |
Het |
| Anks1 |
G |
A |
17: 28,227,173 (GRCm39) |
A609T |
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,833,117 (GRCm39) |
D1138G |
possibly damaging |
Het |
| Appl2 |
T |
C |
10: 83,476,970 (GRCm39) |
|
probably null |
Het |
| Arhgef19 |
A |
T |
4: 140,976,313 (GRCm39) |
I385F |
possibly damaging |
Het |
| Cby3 |
A |
G |
11: 50,250,343 (GRCm39) |
D183G |
probably damaging |
Het |
| Ccdc134 |
G |
A |
15: 82,018,826 (GRCm39) |
V119M |
possibly damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,903,840 (GRCm39) |
|
probably benign |
Het |
| Clec2d |
T |
C |
6: 129,160,165 (GRCm39) |
S60P |
probably benign |
Het |
| Cts6 |
A |
T |
13: 61,350,064 (GRCm39) |
F6I |
probably damaging |
Het |
| Cyyr1 |
G |
A |
16: 85,262,449 (GRCm39) |
H103Y |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,371,668 (GRCm39) |
S120T |
possibly damaging |
Het |
| Dot1l |
T |
C |
10: 80,624,513 (GRCm39) |
S994P |
probably benign |
Het |
| Eya4 |
T |
G |
10: 23,198,971 (GRCm39) |
D3A |
probably benign |
Het |
| Fhip2b |
A |
G |
14: 70,823,649 (GRCm39) |
C574R |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gria1 |
A |
T |
11: 56,902,936 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
T |
C |
12: 51,815,957 (GRCm39) |
T1377A |
probably benign |
Het |
| Magi3 |
T |
G |
3: 103,923,202 (GRCm39) |
K1172Q |
possibly damaging |
Het |
| Map3k1 |
A |
C |
13: 111,892,059 (GRCm39) |
D1065E |
possibly damaging |
Het |
| Mindy4b-ps |
A |
T |
3: 58,717,158 (GRCm39) |
V242D |
probably damaging |
Het |
| Mrgpra3 |
T |
C |
7: 47,238,929 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
C |
A |
1: 162,866,766 (GRCm39) |
G657C |
probably damaging |
Het |
| Ogfod1 |
T |
C |
8: 94,784,395 (GRCm39) |
W318R |
probably damaging |
Het |
| Or10j5 |
A |
G |
1: 172,784,502 (GRCm39) |
T47A |
probably benign |
Het |
| Pacsin3 |
G |
A |
2: 91,090,837 (GRCm39) |
R48H |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,229,722 (GRCm39) |
E1114G |
probably damaging |
Het |
| Prkdc |
T |
G |
16: 15,617,848 (GRCm39) |
D3226E |
probably benign |
Het |
| Prl4a1 |
A |
T |
13: 28,204,246 (GRCm39) |
E96V |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,315,580 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
G |
A |
2: 66,530,291 (GRCm39) |
L685F |
possibly damaging |
Het |
| Tex10 |
T |
C |
4: 48,452,946 (GRCm39) |
D671G |
probably benign |
Het |
| Tifa |
T |
G |
3: 127,590,728 (GRCm39) |
Y166* |
probably null |
Het |
| Tnfsf10 |
G |
A |
3: 27,389,769 (GRCm39) |
D277N |
probably damaging |
Het |
| Tram1 |
A |
T |
1: 13,649,998 (GRCm39) |
Y75* |
probably null |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,368 (GRCm39) |
N244I |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,855,685 (GRCm39) |
I248T |
possibly damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,589,182 (GRCm39) |
|
probably benign |
Het |
| Zfp386 |
T |
A |
12: 116,022,760 (GRCm39) |
H124Q |
probably benign |
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 |
|
IGL02898:Spata1
|
APN |
3 |
146,181,094 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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 |
2016-08-02 |
Incidental Mutation