Incidental Mutation 'R6668:Spata2l'
| ID |
527066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata2l
|
| Ensembl Gene |
ENSMUSG00000033594 |
| Gene Name |
spermatogenesis associated 2-like |
| Synonyms |
2610039E05Rik |
| MMRRC Submission |
044788-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R6668 (G1)
|
| Quality Score |
168.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123958994-123962997 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123960167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 374
(D374G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036880]
[ENSMUST00000098327]
[ENSMUST00000127664]
[ENSMUST00000166768]
[ENSMUST00000213005]
[ENSMUST00000212818]
[ENSMUST00000212193]
[ENSMUST00000212361]
|
| 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 damaging
Transcript: ENSMUST00000098327
AA Change: D374G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095932
Gene: ENSMUSG00000033594
AA Change: D374G
| 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 damaging
Transcript: ENSMUST00000166768
AA Change: D374G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130306
Gene: ENSMUSG00000033594
AA Change: D374G
| 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: ENSMUST00000212749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212904
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212497
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213005
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212193
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212021
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
G |
T |
11: 116,486,868 (GRCm39) |
|
probably benign |
Het |
| Adam26b |
A |
T |
8: 43,973,727 (GRCm39) |
V425D |
possibly damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,579,972 (GRCm39) |
S2077P |
probably benign |
Het |
| Amacr |
A |
G |
15: 10,983,468 (GRCm39) |
T93A |
probably benign |
Het |
| Arsb |
T |
A |
13: 93,930,728 (GRCm39) |
|
probably null |
Het |
| Bcas3 |
G |
A |
11: 85,692,677 (GRCm39) |
R354Q |
probably damaging |
Het |
| Chia1 |
C |
T |
3: 106,038,264 (GRCm39) |
L387F |
probably damaging |
Het |
| Cyp24a1 |
A |
T |
2: 170,327,805 (GRCm39) |
|
probably null |
Het |
| Dennd4a |
G |
A |
9: 64,794,247 (GRCm39) |
G689S |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,688,039 (GRCm39) |
A18V |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,067,929 (GRCm39) |
V80E |
probably damaging |
Het |
| Fmo2 |
T |
A |
1: 162,704,617 (GRCm39) |
T430S |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,577,618 (GRCm39) |
I213V |
probably benign |
Het |
| Gm10134 |
A |
T |
2: 28,396,263 (GRCm39) |
R53* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,412,683 (GRCm39) |
N1524S |
probably benign |
Het |
| Kif1b |
G |
A |
4: 149,297,864 (GRCm39) |
S1104F |
probably benign |
Het |
| Map3k21 |
T |
C |
8: 126,652,852 (GRCm39) |
V326A |
possibly damaging |
Het |
| Mlst8 |
A |
G |
17: 24,696,453 (GRCm39) |
|
probably null |
Het |
| Muc16 |
A |
T |
9: 18,551,681 (GRCm39) |
S4871T |
probably benign |
Het |
| Myo1d |
A |
G |
11: 80,474,701 (GRCm39) |
|
probably benign |
Het |
| Ndufa3 |
A |
G |
7: 3,622,465 (GRCm39) |
Y41C |
probably damaging |
Het |
| Nfkbid |
T |
A |
7: 30,123,866 (GRCm39) |
L142Q |
probably benign |
Het |
| Or8b38 |
T |
A |
9: 37,973,066 (GRCm39) |
M150K |
possibly damaging |
Het |
| Peg10 |
T |
A |
6: 4,754,502 (GRCm39) |
D94E |
probably benign |
Het |
| Phactr3 |
A |
T |
2: 177,974,657 (GRCm39) |
I492F |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,492,396 (GRCm39) |
V1751A |
possibly damaging |
Het |
| Prss16 |
T |
C |
13: 22,190,918 (GRCm39) |
E238G |
probably null |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,647 (GRCm39) |
V523A |
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,547,498 (GRCm39) |
S223T |
probably benign |
Het |
| Ryk |
T |
A |
9: 102,746,475 (GRCm39) |
F137I |
possibly damaging |
Het |
| Sars2 |
G |
A |
7: 28,446,429 (GRCm39) |
E194K |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,937,592 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,192,652 (GRCm39) |
K1097E |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 121,017,408 (GRCm39) |
V690E |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,410,659 (GRCm39) |
N2703S |
probably damaging |
Het |
| Zfp273 |
C |
G |
13: 67,973,243 (GRCm39) |
L124V |
probably damaging |
Het |
| Zfp608 |
A |
G |
18: 55,031,091 (GRCm39) |
S950P |
probably damaging |
Het |
| Zfp994 |
A |
T |
17: 22,420,081 (GRCm39) |
H289Q |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGGTCCTTTTCCAAAAGAAGC -3'
(R):5'- TCGCTCAGGAGACTTAGCTC -3'
Sequencing Primer
(F):5'- GGAAACTGTCCCCAAAATTGTTG -3'
(R):5'- AGACTTAGCTCCCCCTGAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation