Incidental Mutation 'IGL01632:Spata3'
| ID |
93499 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata3
|
| Ensembl Gene |
ENSMUSG00000026226 |
| Gene Name |
spermatogenesis associated 3 |
| Synonyms |
1700011N12Rik, 4930424D10Rik, 1700029H01Rik, TSARG1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL01632
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
85945728-85957683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85950030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 87
(V87A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052854]
[ENSMUST00000113344]
[ENSMUST00000125083]
[ENSMUST00000130504]
[ENSMUST00000135440]
[ENSMUST00000159876]
[ENSMUST00000152501]
[ENSMUST00000153247]
[ENSMUST00000149469]
|
| AlphaFold |
Q9D9T6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052854
AA Change: V87A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000050509
Gene: ENSMUSG00000026226
AA Change: V87A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
191 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113344
AA Change: V87A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108971
Gene: ENSMUSG00000026226
AA Change: V87A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
190 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125083
|
| SMART Domains |
Protein: ENSMUSP00000120768
Gene: ENSMUSG00000026226
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129169
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130504
AA Change: V87A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000116903
Gene: ENSMUSG00000026226
AA Change: V87A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
190 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131151
AA Change: V68A
|
| SMART Domains |
Protein: ENSMUSP00000123844
Gene: ENSMUSG00000026226
AA Change: V68A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA3
|
1 |
173 |
8.4e-85 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135440
AA Change: V87A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123587
Gene: ENSMUSG00000026226
AA Change: V87A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
123 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159876
AA Change: V87A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124671
Gene: ENSMUSG00000026226
AA Change: V87A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA3
|
1 |
192 |
1.1e-95 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152501
AA Change: V87A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123194
Gene: ENSMUSG00000026226
AA Change: V87A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153247
AA Change: V87A
|
| SMART Domains |
Protein: ENSMUSP00000117650
Gene: ENSMUSG00000026226
AA Change: V87A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
84 |
N/A |
INTRINSIC |
|
transmembrane domain
|
113 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149469
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,604,928 (GRCm39) |
C1724S |
probably benign |
Het |
| Anapc10 |
T |
C |
8: 80,439,795 (GRCm39) |
M1T |
probably null |
Het |
| Antxrl |
A |
G |
14: 33,789,904 (GRCm39) |
N332S |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 51,895,899 (GRCm39) |
R49G |
probably damaging |
Het |
| Chodl |
A |
G |
16: 78,741,452 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
G |
T |
3: 144,733,202 (GRCm39) |
A102D |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,755,559 (GRCm39) |
E1029G |
probably damaging |
Het |
| Cpeb2 |
T |
A |
5: 43,394,765 (GRCm39) |
I581N |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,996,092 (GRCm39) |
V406A |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,924,707 (GRCm39) |
R3960Q |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,615,135 (GRCm39) |
D732G |
probably benign |
Het |
| Fyb2 |
G |
T |
4: 104,853,008 (GRCm39) |
V499L |
probably benign |
Het |
| Gm43191 |
A |
T |
3: 116,445,116 (GRCm39) |
H39Q |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,242,084 (GRCm39) |
K606R |
probably damaging |
Het |
| Klk1b27 |
C |
T |
7: 43,706,097 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,676,672 (GRCm39) |
|
probably benign |
Het |
| Mup14 |
A |
T |
4: 61,259,383 (GRCm39) |
F56L |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,881,874 (GRCm39) |
K39E |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,267,576 (GRCm39) |
N263Y |
probably benign |
Het |
| Or5m12 |
A |
G |
2: 85,734,714 (GRCm39) |
I228T |
probably benign |
Het |
| Ppp1r3a |
T |
A |
6: 14,754,810 (GRCm39) |
I146F |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,609,854 (GRCm39) |
I759T |
probably damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,539,669 (GRCm39) |
I819T |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,925,740 (GRCm39) |
V322A |
probably benign |
Het |
| Tacstd2 |
A |
G |
6: 67,511,783 (GRCm39) |
V303A |
possibly damaging |
Het |
| Taok3 |
T |
A |
5: 117,403,993 (GRCm39) |
F723I |
possibly damaging |
Het |
| Tektl1 |
T |
C |
10: 78,584,536 (GRCm39) |
S329G |
probably benign |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,366 (GRCm39) |
*307R |
probably null |
Het |
| Vmn2r70 |
T |
C |
7: 85,215,280 (GRCm39) |
I85V |
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,001,724 (GRCm39) |
I123T |
probably damaging |
Het |
|
| Other mutations in Spata3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02553:Spata3
|
APN |
1 |
85,952,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02736:Spata3
|
APN |
1 |
85,952,157 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4696001:Spata3
|
UTSW |
1 |
85,952,169 (GRCm39) |
missense |
unknown |
|
|
R1930:Spata3
|
UTSW |
1 |
85,949,783 (GRCm39) |
intron |
probably benign |
|
|
R1931:Spata3
|
UTSW |
1 |
85,949,783 (GRCm39) |
intron |
probably benign |
|
|
R4472:Spata3
|
UTSW |
1 |
85,954,152 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4579:Spata3
|
UTSW |
1 |
85,954,175 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4824:Spata3
|
UTSW |
1 |
85,952,048 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7823:Spata3
|
UTSW |
1 |
85,949,781 (GRCm39) |
intron |
probably benign |
|
|
R8062:Spata3
|
UTSW |
1 |
85,952,148 (GRCm39) |
missense |
unknown |
|
|
R8123:Spata3
|
UTSW |
1 |
85,952,075 (GRCm39) |
missense |
unknown |
|
|
R8124:Spata3
|
UTSW |
1 |
85,952,075 (GRCm39) |
missense |
unknown |
|
|
R8125:Spata3
|
UTSW |
1 |
85,952,075 (GRCm39) |
missense |
unknown |
|
|
R8126:Spata3
|
UTSW |
1 |
85,952,075 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation