Incidental Mutation 'IGL02873:Spata1'
ID |
362611 |
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 # |
IGL02873
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
146162951-146205508 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 146193122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 123
(V123D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142800
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029839]
[ENSMUST00000093951]
[ENSMUST00000197980]
|
AlphaFold |
Q9D5R4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029839
AA Change: V123D
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000029839 Gene: ENSMUSG00000028188 AA Change: V123D
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 |
probably benign
Transcript: ENSMUST00000093951
|
SMART Domains |
Protein: ENSMUSP00000091483 Gene: ENSMUSG00000028188
Domain | Start | End | E-Value | Type |
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123421
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197684
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197980
AA Change: V123D
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142800 Gene: ENSMUSG00000028188 AA Change: V123D
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405O20Rik |
A |
T |
7: 50,249,431 (GRCm39) |
H155L |
probably damaging |
Het |
5830462I19Rik |
G |
A |
9: 110,203,446 (GRCm39) |
|
probably benign |
Het |
Ankib1 |
T |
A |
5: 3,822,619 (GRCm39) |
Q29L |
probably damaging |
Het |
Arid5b |
A |
T |
10: 67,937,780 (GRCm39) |
M449K |
probably benign |
Het |
Atp1a1 |
A |
G |
3: 101,483,894 (GRCm39) |
V1017A |
probably benign |
Het |
Cfap52 |
G |
T |
11: 67,822,608 (GRCm39) |
T421K |
probably damaging |
Het |
Chd8 |
A |
T |
14: 52,459,970 (GRCm39) |
I780N |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,299,181 (GRCm39) |
D3164G |
probably benign |
Het |
Cyp4f37 |
A |
T |
17: 32,844,142 (GRCm39) |
Q82L |
probably benign |
Het |
Eml6 |
T |
A |
11: 29,830,700 (GRCm39) |
D265V |
probably benign |
Het |
Gm14393 |
T |
C |
2: 174,903,595 (GRCm39) |
D104G |
possibly damaging |
Het |
Gpat2 |
T |
C |
2: 127,273,675 (GRCm39) |
V271A |
probably benign |
Het |
Ifna4 |
T |
C |
4: 88,760,423 (GRCm39) |
F109S |
probably damaging |
Het |
Il27ra |
T |
C |
8: 84,758,164 (GRCm39) |
S529G |
probably benign |
Het |
Jag2 |
A |
G |
12: 112,874,122 (GRCm39) |
L1011P |
probably benign |
Het |
Kif7 |
A |
G |
7: 79,356,507 (GRCm39) |
L728P |
probably damaging |
Het |
Klhl21 |
T |
C |
4: 152,099,817 (GRCm39) |
V509A |
probably benign |
Het |
Map2k4 |
T |
A |
11: 65,610,400 (GRCm39) |
N92I |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,374,308 (GRCm39) |
D1288V |
probably damaging |
Het |
Or4k37 |
T |
C |
2: 111,159,217 (GRCm39) |
V151A |
probably benign |
Het |
Or5g25 |
C |
A |
2: 85,478,096 (GRCm39) |
A190S |
possibly damaging |
Het |
Paip1 |
T |
A |
13: 119,582,348 (GRCm39) |
F275L |
possibly damaging |
Het |
Plxnd1 |
T |
C |
6: 115,936,937 (GRCm39) |
D1624G |
probably damaging |
Het |
Ppwd1 |
C |
A |
13: 104,346,261 (GRCm39) |
D465Y |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,228,538 (GRCm39) |
L528P |
probably damaging |
Het |
Rftn1 |
A |
C |
17: 50,476,180 (GRCm39) |
|
probably benign |
Het |
Scn1b |
T |
A |
7: 30,817,182 (GRCm39) |
Y180F |
probably damaging |
Het |
Slc16a4 |
A |
G |
3: 107,208,111 (GRCm39) |
D207G |
probably benign |
Het |
Slc2a3 |
T |
C |
6: 122,717,373 (GRCm39) |
T28A |
probably damaging |
Het |
Slc47a1 |
G |
A |
11: 61,253,643 (GRCm39) |
|
probably benign |
Het |
Stard9 |
T |
C |
2: 120,544,288 (GRCm39) |
V4469A |
probably damaging |
Het |
Trmu |
T |
A |
15: 85,781,033 (GRCm39) |
|
probably null |
Het |
Trrap |
T |
A |
5: 144,777,889 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,726,475 (GRCm39) |
|
probably benign |
Het |
Tubgcp6 |
T |
C |
15: 88,988,027 (GRCm39) |
D974G |
probably benign |
Het |
Tyw1 |
C |
T |
5: 130,364,171 (GRCm39) |
R621C |
probably benign |
Het |
Usp7 |
A |
T |
16: 8,513,058 (GRCm39) |
|
probably benign |
Het |
Zfp39 |
T |
C |
11: 58,781,848 (GRCm39) |
K305E |
probably benign |
Het |
Zfp692 |
C |
T |
11: 58,199,765 (GRCm39) |
T118M |
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 |
IGL02898:Spata1
|
APN |
3 |
146,181,094 (GRCm39) |
missense |
possibly damaging |
0.71 |
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 |