Incidental Mutation 'IGL00909:Spata2l'
| ID |
27999 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata2l
|
| Ensembl Gene |
ENSMUSG00000033594 |
| Gene Name |
spermatogenesis associated 2-like |
| Synonyms |
2610039E05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL00909
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
123958994-123962997 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123960716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 191
(D191G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036880]
[ENSMUST00000098327]
[ENSMUST00000127664]
[ENSMUST00000166768]
[ENSMUST00000212818]
[ENSMUST00000212193]
[ENSMUST00000212361]
[ENSMUST00000213005]
|
| AlphaFold |
Q8BNN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036880
|
| SMART Domains |
Protein: ENSMUSP00000045527
Gene: ENSMUSG00000033862
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
39 |
323 |
1.52e-87 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098327
AA Change: D191G
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095932
Gene: ENSMUSG00000033594
AA Change: D191G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166768
AA Change: D191G
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130306
Gene: ENSMUSG00000033594
AA Change: D191G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212497
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212193
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212784
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212021
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212904
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
T |
A |
9: 46,220,250 (GRCm39) |
D94V |
possibly damaging |
Het |
| Adamts20 |
T |
C |
15: 94,277,694 (GRCm39) |
Y256C |
probably damaging |
Het |
| Ajm1 |
A |
G |
2: 25,469,419 (GRCm39) |
L164P |
probably damaging |
Het |
| Ampd1 |
A |
C |
3: 102,995,744 (GRCm39) |
D218A |
probably benign |
Het |
| Arcn1 |
T |
C |
9: 44,662,651 (GRCm39) |
N332D |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 112,005,191 (GRCm39) |
I219F |
probably damaging |
Het |
| Bicra |
A |
T |
7: 15,730,502 (GRCm39) |
D5E |
possibly damaging |
Het |
| Birc2 |
A |
C |
9: 7,833,666 (GRCm39) |
W272G |
probably damaging |
Het |
| Cd2ap |
A |
T |
17: 43,141,005 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
G |
A |
15: 85,806,436 (GRCm39) |
R974W |
probably damaging |
Het |
| Col4a2 |
A |
C |
8: 11,498,167 (GRCm39) |
T1659P |
possibly damaging |
Het |
| Coq9 |
C |
T |
8: 95,578,530 (GRCm39) |
L215F |
possibly damaging |
Het |
| Cped1 |
A |
G |
6: 22,122,426 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
A |
T |
5: 9,430,282 (GRCm39) |
D64V |
probably damaging |
Het |
| Gga3 |
T |
A |
11: 115,482,567 (GRCm39) |
R105W |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,514,620 (GRCm39) |
R3584Q |
probably benign |
Het |
| Hs6st3 |
T |
A |
14: 119,376,446 (GRCm39) |
L207Q |
probably damaging |
Het |
| Ift43 |
A |
G |
12: 86,208,807 (GRCm39) |
E141G |
probably damaging |
Het |
| Mrps31 |
T |
G |
8: 22,917,841 (GRCm39) |
F287V |
probably damaging |
Het |
| Naca |
A |
G |
10: 127,877,551 (GRCm39) |
|
probably benign |
Het |
| Nrf1 |
C |
T |
6: 30,098,477 (GRCm39) |
T135M |
probably damaging |
Het |
| Or5p81 |
A |
G |
7: 108,266,907 (GRCm39) |
I95V |
possibly damaging |
Het |
| Pfas |
A |
T |
11: 68,894,640 (GRCm39) |
Y8* |
probably null |
Het |
| Ppip5k1 |
G |
A |
2: 121,177,839 (GRCm39) |
R323W |
probably damaging |
Het |
| Rasal1 |
A |
G |
5: 120,802,872 (GRCm39) |
E376G |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,437,042 (GRCm39) |
L546P |
probably benign |
Het |
| Rheb |
A |
T |
5: 25,012,073 (GRCm39) |
I129N |
probably damaging |
Het |
| Scpep1 |
A |
T |
11: 88,843,303 (GRCm39) |
F52I |
probably damaging |
Het |
| Six2 |
A |
T |
17: 85,995,319 (GRCm39) |
L21Q |
probably damaging |
Het |
| Slit1 |
G |
T |
19: 41,590,694 (GRCm39) |
T1326K |
possibly damaging |
Het |
| Susd4 |
C |
A |
1: 182,719,552 (GRCm39) |
A389D |
probably damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,601,510 (GRCm39) |
F850I |
probably damaging |
Het |
| Teddm1b |
T |
C |
1: 153,750,391 (GRCm39) |
S67P |
probably damaging |
Het |
| Tiparp |
T |
A |
3: 65,439,530 (GRCm39) |
V100D |
probably damaging |
Het |
| Zdhhc14 |
A |
G |
17: 5,803,067 (GRCm39) |
H390R |
probably benign |
Het |
|
| Other mutations in Spata2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01764:Spata2l
|
APN |
8 |
123,960,914 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02145:Spata2l
|
APN |
8 |
123,960,770 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03145:Spata2l
|
APN |
8 |
123,960,075 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0333:Spata2l
|
UTSW |
8 |
123,960,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1351:Spata2l
|
UTSW |
8 |
123,960,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1647:Spata2l
|
UTSW |
8 |
123,960,041 (GRCm39) |
missense |
probably benign |
|
|
R4420:Spata2l
|
UTSW |
8 |
123,960,768 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5161:Spata2l
|
UTSW |
8 |
123,962,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5770:Spata2l
|
UTSW |
8 |
123,962,459 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6668:Spata2l
|
UTSW |
8 |
123,960,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6885:Spata2l
|
UTSW |
8 |
123,962,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8513:Spata2l
|
UTSW |
8 |
123,960,438 (GRCm39) |
missense |
probably benign |
|
|
R9310:Spata2l
|
UTSW |
8 |
123,960,873 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Posted On |
2013-04-17 |
Incidental Mutation