Incidental Mutation 'IGL02736:Spata3'
| ID |
305674 |
| 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 # |
IGL02736
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
85945728-85957683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85952157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 136
(V136A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052854]
[ENSMUST00000113344]
[ENSMUST00000125083]
[ENSMUST00000130504]
[ENSMUST00000135440]
[ENSMUST00000159876]
[ENSMUST00000152501]
[ENSMUST00000149469]
[ENSMUST00000153247]
|
| AlphaFold |
Q9D9T6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000052854
AA Change: V137A
|
| SMART Domains |
Protein: ENSMUSP00000050509
Gene: ENSMUSG00000026226
AA Change: V137A
| 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 |
probably damaging
Transcript: ENSMUST00000113344
AA Change: V136A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108971
Gene: ENSMUSG00000026226
AA Change: V136A
| 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 |
probably damaging
Transcript: ENSMUST00000130504
AA Change: V136A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116903
Gene: ENSMUSG00000026226
AA Change: V136A
| 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: V117A
|
| SMART Domains |
Protein: ENSMUSP00000123844
Gene: ENSMUSG00000026226
AA Change: V117A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA3
|
1 |
173 |
8.4e-85 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135440
AA Change: V137A
|
| SMART Domains |
Protein: ENSMUSP00000123587
Gene: ENSMUSG00000026226
AA Change: V137A
| 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 |
unknown
Transcript: ENSMUST00000159876
AA Change: V137A
|
| SMART Domains |
Protein: ENSMUSP00000124671
Gene: ENSMUSG00000026226
AA Change: V137A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA3
|
1 |
192 |
1.1e-95 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152501
AA Change: V136A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123194
Gene: ENSMUSG00000026226
AA Change: V136A
| 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 |
possibly damaging
Transcript: ENSMUST00000149469
AA Change: V277A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153247
|
| SMART Domains |
Protein: ENSMUSP00000117650
Gene: ENSMUSG00000026226
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
G |
A |
1: 12,042,275 (GRCm39) |
A416T |
probably benign |
Het |
| Aadacl4fm1 |
G |
A |
4: 144,255,207 (GRCm39) |
R209K |
probably benign |
Het |
| Akap12 |
A |
G |
10: 4,305,637 (GRCm39) |
I816V |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,778,575 (GRCm39) |
|
probably benign |
Het |
| Atp1a3 |
G |
A |
7: 24,679,534 (GRCm39) |
T920I |
probably damaging |
Het |
| Cd22 |
C |
T |
7: 30,577,470 (GRCm39) |
|
probably null |
Het |
| Cntn3 |
T |
A |
6: 102,180,900 (GRCm39) |
N765I |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,676,954 (GRCm39) |
E76G |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 3,972,774 (GRCm39) |
P307S |
probably benign |
Het |
| Dapk2 |
T |
A |
9: 66,176,198 (GRCm39) |
M333K |
probably benign |
Het |
| Decr1 |
T |
A |
4: 15,930,952 (GRCm39) |
T127S |
probably benign |
Het |
| Dnmbp |
A |
T |
19: 43,838,209 (GRCm39) |
|
probably benign |
Het |
| Erbin |
A |
G |
13: 103,975,903 (GRCm39) |
S664P |
probably damaging |
Het |
| Hectd4 |
G |
T |
5: 121,480,782 (GRCm39) |
C2941F |
possibly damaging |
Het |
| Ighv1-4 |
A |
G |
12: 114,450,872 (GRCm39) |
Y79H |
probably benign |
Het |
| Matn3 |
T |
A |
12: 9,005,422 (GRCm39) |
D277E |
possibly damaging |
Het |
| Mgarp |
C |
A |
3: 51,303,866 (GRCm39) |
A36S |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,351,678 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
G |
A |
14: 56,108,366 (GRCm39) |
A1158T |
probably damaging |
Het |
| Or4k5 |
G |
A |
14: 50,385,881 (GRCm39) |
A150V |
probably benign |
Het |
| Or6k14 |
T |
G |
1: 173,927,213 (GRCm39) |
I63S |
probably damaging |
Het |
| Pakap |
C |
A |
4: 57,709,721 (GRCm39) |
A222E |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,405 (GRCm39) |
D1295G |
probably benign |
Het |
| Ppig |
A |
G |
2: 69,566,438 (GRCm39) |
I171M |
probably damaging |
Het |
| Ptprs |
A |
T |
17: 56,765,248 (GRCm39) |
V12E |
possibly damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rpgrip1l |
T |
A |
8: 91,990,219 (GRCm39) |
Q741L |
possibly damaging |
Het |
| Slco6d1 |
T |
C |
1: 98,356,036 (GRCm39) |
V157A |
possibly damaging |
Het |
| Sox6 |
A |
C |
7: 115,179,875 (GRCm39) |
D302E |
probably damaging |
Het |
| St6galnac6 |
G |
A |
2: 32,504,983 (GRCm39) |
R129H |
probably benign |
Het |
| Tmem184c |
A |
T |
8: 78,324,475 (GRCm39) |
D338E |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,045,789 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,708,614 (GRCm39) |
|
probably benign |
Het |
| Usp16 |
T |
C |
16: 87,261,723 (GRCm39) |
V113A |
possibly damaging |
Het |
| Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
probably damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,151,308 (GRCm39) |
Y117* |
probably null |
Het |
| Zc3h7b |
A |
T |
15: 81,676,175 (GRCm39) |
M694L |
probably benign |
Het |
| Zfp345 |
A |
T |
2: 150,316,474 (GRCm39) |
Y45N |
probably damaging |
Het |
|
| Other mutations in Spata3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01632:Spata3
|
APN |
1 |
85,950,030 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02553:Spata3
|
APN |
1 |
85,952,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation