Incidental Mutation 'IGL01764:Spata2l'
| ID |
153631 |
| 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 # |
IGL01764
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
123958994-123962997 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123960914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 125
(Q125L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036880]
[ENSMUST00000098327]
[ENSMUST00000127664]
[ENSMUST00000166768]
[ENSMUST00000213005]
[ENSMUST00000212193]
[ENSMUST00000212361]
[ENSMUST00000212818]
|
| 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 |
probably benign
Transcript: ENSMUST00000098327
AA Change: Q125L
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000095932
Gene: ENSMUSG00000033594
AA Change: Q125L
| 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 |
probably benign
Transcript: ENSMUST00000166768
AA Change: Q125L
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000130306
Gene: ENSMUSG00000033594
AA Change: Q125L
| 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: ENSMUST00000212497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212021
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212904
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213005
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212193
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212361
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212818
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212749
|
| 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 |
|---|
| 1700113H08Rik |
A |
T |
10: 86,909,910 (GRCm39) |
M1L |
probably benign |
Het |
| BC025920 |
T |
A |
10: 81,444,984 (GRCm39) |
Y36N |
probably damaging |
Het |
| Cdk11b |
G |
A |
4: 155,713,260 (GRCm39) |
R112H |
possibly damaging |
Het |
| Ctu2 |
G |
A |
8: 123,206,161 (GRCm39) |
|
probably benign |
Het |
| Ddx56 |
A |
C |
11: 6,215,692 (GRCm39) |
V219G |
probably null |
Het |
| Dnah14 |
T |
C |
1: 181,572,342 (GRCm39) |
V2891A |
probably benign |
Het |
| Fbn2 |
G |
T |
18: 58,178,423 (GRCm39) |
N1938K |
probably damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,052,427 (GRCm39) |
M302T |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gpat2 |
T |
C |
2: 127,269,456 (GRCm39) |
I36T |
probably benign |
Het |
| Gsta5 |
A |
T |
9: 78,211,789 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
G |
2: 31,295,642 (GRCm39) |
E2617G |
possibly damaging |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Krba1 |
C |
T |
6: 48,392,770 (GRCm39) |
R895W |
probably benign |
Het |
| Large2 |
G |
T |
2: 92,197,531 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,587,454 (GRCm39) |
V165M |
unknown |
Het |
| Mapk1 |
T |
A |
16: 16,801,597 (GRCm39) |
M36K |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,275,013 (GRCm39) |
T25A |
probably benign |
Het |
| Nrxn3 |
G |
A |
12: 90,171,524 (GRCm39) |
V1316I |
possibly damaging |
Het |
| Pik3r4 |
G |
A |
9: 105,562,321 (GRCm39) |
|
probably benign |
Het |
| Plekhh1 |
G |
T |
12: 79,101,679 (GRCm39) |
A250S |
probably benign |
Het |
| Polr3g |
G |
A |
13: 81,830,238 (GRCm39) |
T145M |
possibly damaging |
Het |
| Prss32 |
A |
G |
17: 24,075,085 (GRCm39) |
D145G |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,287,667 (GRCm39) |
K162R |
probably benign |
Het |
| Spag7 |
A |
G |
11: 70,554,933 (GRCm39) |
|
probably benign |
Het |
| Tlr9 |
G |
T |
9: 106,103,004 (GRCm39) |
C765F |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,850,890 (GRCm39) |
I773N |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,873,507 (GRCm39) |
T116P |
probably damaging |
Het |
| Vmn2r22 |
C |
T |
6: 123,627,379 (GRCm39) |
|
probably null |
Het |
| Yme1l1 |
T |
C |
2: 23,052,556 (GRCm39) |
I70T |
probably benign |
Het |
| Zfp938 |
T |
A |
10: 82,063,624 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Spata2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Spata2l
|
APN |
8 |
123,960,716 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
2014-02-04 |
Incidental Mutation