Incidental Mutation 'R1036:Spata31e5'
| ID |
93762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31e5
|
| Ensembl Gene |
ENSMUSG00000048411 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 5 |
| Synonyms |
Gm597, LOC210962 |
| MMRRC Submission |
039135-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R1036 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
28815203-28819333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28816883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 383
(L383P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
| AlphaFold |
E9Q8J5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059937
AA Change: L383P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: L383P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
129 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
137 |
472 |
8.1e-14 |
PFAM |
|
low complexity region
|
664 |
675 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
718 |
807 |
1.4e-5 |
PROSPERO |
|
internal_repeat_1
|
807 |
894 |
1.4e-5 |
PROSPERO |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 86.2%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,302,569 (GRCm39) |
|
probably null |
Het |
| Abcg1 |
C |
A |
17: 31,330,243 (GRCm39) |
Q515K |
probably damaging |
Het |
| Acaa1b |
A |
T |
9: 118,979,884 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
T |
C |
5: 89,843,952 (GRCm39) |
|
probably benign |
Het |
| Aoah |
A |
C |
13: 21,024,339 (GRCm39) |
|
probably benign |
Het |
| Arhgap10 |
G |
A |
8: 78,037,398 (GRCm39) |
P610L |
probably damaging |
Het |
| Casq2 |
G |
T |
3: 102,049,531 (GRCm39) |
A295S |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,945,397 (GRCm39) |
Y906H |
probably damaging |
Het |
| Dcaf13 |
T |
A |
15: 39,007,113 (GRCm39) |
I349N |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,383,386 (GRCm39) |
|
probably benign |
Het |
| Enpep |
C |
A |
3: 129,077,758 (GRCm39) |
V620L |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,735,815 (GRCm39) |
S268G |
possibly damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Gatd1 |
T |
A |
7: 140,989,045 (GRCm39) |
T205S |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,325,775 (GRCm39) |
V604E |
probably damaging |
Het |
| Ghsr |
T |
A |
3: 27,428,869 (GRCm39) |
I298N |
probably damaging |
Het |
| Glis1 |
T |
C |
4: 107,489,461 (GRCm39) |
Y683H |
probably benign |
Het |
| Gpr162 |
T |
A |
6: 124,837,823 (GRCm39) |
I276F |
probably damaging |
Het |
| Hps6 |
A |
G |
19: 45,992,680 (GRCm39) |
T206A |
probably benign |
Het |
| Kcnk10 |
T |
C |
12: 98,462,445 (GRCm39) |
|
probably benign |
Het |
| Krt90 |
A |
G |
15: 101,471,151 (GRCm39) |
V37A |
probably benign |
Het |
| Lmbr1 |
T |
C |
5: 29,463,745 (GRCm39) |
K160E |
probably damaging |
Het |
| Nif3l1 |
A |
G |
1: 58,487,032 (GRCm39) |
T73A |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,593,199 (GRCm39) |
D826E |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,100,247 (GRCm39) |
|
probably benign |
Het |
| Omd |
A |
G |
13: 49,743,447 (GRCm39) |
R166G |
probably damaging |
Het |
| Plekha4 |
T |
C |
7: 45,199,400 (GRCm39) |
|
probably benign |
Het |
| Ptgdr |
A |
G |
14: 45,096,572 (GRCm39) |
S47P |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,742,965 (GRCm39) |
I940V |
probably benign |
Het |
| Shkbp1 |
A |
G |
7: 27,044,721 (GRCm39) |
S457P |
possibly damaging |
Het |
| Skint1 |
T |
C |
4: 111,876,493 (GRCm39) |
V138A |
possibly damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,838,193 (GRCm39) |
|
probably benign |
Het |
| Srsf7 |
A |
T |
17: 80,513,266 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
T |
C |
2: 166,793,235 (GRCm39) |
K300R |
probably damaging |
Het |
| Stox1 |
A |
T |
10: 62,503,674 (GRCm39) |
I127K |
probably damaging |
Het |
| Sympk |
G |
A |
7: 18,782,378 (GRCm39) |
R832Q |
probably damaging |
Het |
| Usp3 |
A |
G |
9: 66,437,513 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Spata31e5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00740:Spata31e5
|
APN |
1 |
28,817,732 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00885:Spata31e5
|
APN |
1 |
28,815,926 (GRCm39) |
missense |
unknown |
|
|
IGL01296:Spata31e5
|
APN |
1 |
28,816,137 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01476:Spata31e5
|
APN |
1 |
28,816,534 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02125:Spata31e5
|
APN |
1 |
28,815,419 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02410:Spata31e5
|
APN |
1 |
28,817,712 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02982:Spata31e5
|
APN |
1 |
28,817,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03031:Spata31e5
|
APN |
1 |
28,817,664 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03267:Spata31e5
|
APN |
1 |
28,816,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0294:Spata31e5
|
UTSW |
1 |
28,817,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0433:Spata31e5
|
UTSW |
1 |
28,816,423 (GRCm39) |
nonsense |
probably null |
|
|
R0485:Spata31e5
|
UTSW |
1 |
28,817,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Spata31e5
|
UTSW |
1 |
28,816,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0744:Spata31e5
|
UTSW |
1 |
28,816,902 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0836:Spata31e5
|
UTSW |
1 |
28,816,902 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1302:Spata31e5
|
UTSW |
1 |
28,815,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1394:Spata31e5
|
UTSW |
1 |
28,815,890 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1395:Spata31e5
|
UTSW |
1 |
28,815,890 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1514:Spata31e5
|
UTSW |
1 |
28,817,829 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1535:Spata31e5
|
UTSW |
1 |
28,816,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2004:Spata31e5
|
UTSW |
1 |
28,816,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2021:Spata31e5
|
UTSW |
1 |
28,817,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2022:Spata31e5
|
UTSW |
1 |
28,817,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3115:Spata31e5
|
UTSW |
1 |
28,815,410 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3615:Spata31e5
|
UTSW |
1 |
28,815,656 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3616:Spata31e5
|
UTSW |
1 |
28,815,656 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3862:Spata31e5
|
UTSW |
1 |
28,816,722 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4067:Spata31e5
|
UTSW |
1 |
28,816,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4119:Spata31e5
|
UTSW |
1 |
28,817,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4415:Spata31e5
|
UTSW |
1 |
28,816,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5010:Spata31e5
|
UTSW |
1 |
28,816,943 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5109:Spata31e5
|
UTSW |
1 |
28,816,636 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5122:Spata31e5
|
UTSW |
1 |
28,819,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5533:Spata31e5
|
UTSW |
1 |
28,817,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6085:Spata31e5
|
UTSW |
1 |
28,817,308 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6116:Spata31e5
|
UTSW |
1 |
28,817,780 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6750:Spata31e5
|
UTSW |
1 |
28,816,495 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6757:Spata31e5
|
UTSW |
1 |
28,819,191 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6774:Spata31e5
|
UTSW |
1 |
28,815,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7156:Spata31e5
|
UTSW |
1 |
28,815,848 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7365:Spata31e5
|
UTSW |
1 |
28,819,233 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7739:Spata31e5
|
UTSW |
1 |
28,816,689 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7996:Spata31e5
|
UTSW |
1 |
28,817,487 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8082:Spata31e5
|
UTSW |
1 |
28,816,579 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8281:Spata31e5
|
UTSW |
1 |
28,817,225 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8514:Spata31e5
|
UTSW |
1 |
28,817,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Spata31e5
|
UTSW |
1 |
28,816,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9042:Spata31e5
|
UTSW |
1 |
28,816,037 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9101:Spata31e5
|
UTSW |
1 |
28,815,740 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9106:Spata31e5
|
UTSW |
1 |
28,815,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9173:Spata31e5
|
UTSW |
1 |
28,816,430 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9596:Spata31e5
|
UTSW |
1 |
28,815,688 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9632:Spata31e5
|
UTSW |
1 |
28,817,120 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9656:Spata31e5
|
UTSW |
1 |
28,816,536 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9659:Spata31e5
|
UTSW |
1 |
28,816,536 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9661:Spata31e5
|
UTSW |
1 |
28,816,536 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9663:Spata31e5
|
UTSW |
1 |
28,816,536 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9710:Spata31e5
|
UTSW |
1 |
28,817,120 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCTGGAAAAGAGTGTCGCAGTC -3'
(R):5'- CCCTGCCCATTAAAGCTATCCAGTC -3'
Sequencing Primer
(F):5'- CTGGCAGAATGCACAGTTTC -3'
(R):5'- AAAGCTATCCAGTCAGTCTTCATC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation