Incidental Mutation 'R9656:Spata31e5'
| ID |
727298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31e5
|
| Ensembl Gene |
ENSMUSG00000048411 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 5 |
| Synonyms |
Gm597, LOC210962 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R9656 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
28815203-28819333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 28816536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 499
(H499N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
| AlphaFold |
E9Q8J5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059937
AA Change: H499N
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: H499N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
G |
A |
8: 10,037,991 (GRCm39) |
G196E |
possibly damaging |
Het |
| Atad5 |
G |
T |
11: 79,980,542 (GRCm39) |
|
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,922,061 (GRCm39) |
T635I |
possibly damaging |
Het |
| Bbs10 |
T |
A |
10: 111,135,545 (GRCm39) |
N219K |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,994,407 (GRCm39) |
T623S |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,060,008 (GRCm39) |
D580G |
probably damaging |
Het |
| Cckar |
A |
G |
5: 53,857,318 (GRCm39) |
L364P |
probably damaging |
Het |
| Ccn5 |
A |
G |
2: 163,670,985 (GRCm39) |
D164G |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,235,816 (GRCm39) |
M631K |
|
Het |
| Col1a1 |
T |
A |
11: 94,839,372 (GRCm39) |
S1006T |
unknown |
Het |
| Cpe |
T |
C |
8: 65,047,980 (GRCm39) |
Y428C |
probably damaging |
Het |
| Cyp2d26 |
C |
A |
15: 82,677,059 (GRCm39) |
V122L |
probably benign |
Het |
| Fam114a1 |
T |
C |
5: 65,163,246 (GRCm39) |
I181T |
probably benign |
Het |
| Fam83b |
A |
G |
9: 76,452,863 (GRCm39) |
V68A |
probably benign |
Het |
| Fanca |
A |
C |
8: 124,031,482 (GRCm39) |
V403G |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,397,471 (GRCm39) |
H872R |
possibly damaging |
Het |
| Grpel2 |
G |
T |
18: 61,859,361 (GRCm39) |
R4S |
probably benign |
Het |
| Gstm1 |
T |
C |
3: 107,925,072 (GRCm39) |
Y7C |
probably damaging |
Het |
| Hace1 |
A |
T |
10: 45,547,545 (GRCm39) |
I497F |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,279,196 (GRCm39) |
V3093A |
probably benign |
Het |
| Ighv3-4 |
A |
T |
12: 114,217,295 (GRCm39) |
F99I |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,299,839 (GRCm39) |
M963V |
probably null |
Het |
| Krt12 |
T |
C |
11: 99,309,471 (GRCm39) |
E263G |
|
Het |
| L1td1 |
T |
C |
4: 98,622,223 (GRCm39) |
F262L |
probably benign |
Het |
| Lrp2bp |
A |
G |
8: 46,466,158 (GRCm39) |
H110R |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,274,846 (GRCm39) |
I135T |
probably damaging |
Het |
| Nfatc3 |
G |
A |
8: 106,830,766 (GRCm39) |
R695H |
probably damaging |
Het |
| Nkx1-2 |
T |
A |
7: 132,201,228 (GRCm39) |
K10* |
probably null |
Het |
| Or2t44 |
G |
A |
11: 58,677,635 (GRCm39) |
A192T |
possibly damaging |
Het |
| Or4f54 |
A |
T |
2: 111,122,633 (GRCm39) |
T7S |
probably benign |
Het |
| Or5b110-ps1 |
T |
C |
19: 13,260,035 (GRCm39) |
H129R |
possibly damaging |
Het |
| Or5b21 |
A |
G |
19: 12,839,247 (GRCm39) |
Y36C |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,959,567 (GRCm39) |
T719A |
probably damaging |
Het |
| Prkdc |
T |
G |
16: 15,617,818 (GRCm39) |
I3216M |
probably benign |
Het |
| Pygm |
A |
G |
19: 6,438,187 (GRCm39) |
D252G |
probably benign |
Het |
| Rae1 |
T |
A |
2: 172,854,590 (GRCm39) |
Y332* |
probably null |
Het |
| Rbm12 |
A |
T |
2: 155,940,121 (GRCm39) |
D50E |
unknown |
Het |
| Rbm6 |
G |
A |
9: 107,656,778 (GRCm39) |
R1000W |
probably damaging |
Het |
| Rd3l |
A |
T |
12: 111,946,614 (GRCm39) |
V54E |
possibly damaging |
Het |
| Rft1 |
T |
C |
14: 30,404,714 (GRCm39) |
V370A |
probably benign |
Het |
| Rfx8 |
T |
C |
1: 39,709,679 (GRCm39) |
I449M |
probably benign |
Het |
| Satb1 |
A |
T |
17: 52,112,264 (GRCm39) |
S117T |
possibly damaging |
Het |
| Slc24a2 |
T |
C |
4: 86,968,144 (GRCm39) |
Y370C |
probably damaging |
Het |
| Slc5a4b |
C |
A |
10: 75,944,391 (GRCm39) |
V85L |
probably damaging |
Het |
| Snrpn |
A |
T |
7: 59,635,715 (GRCm39) |
V95E |
possibly damaging |
Het |
| Spata33 |
A |
T |
8: 123,948,758 (GRCm39) |
N130I |
possibly damaging |
Het |
| Spmip2 |
T |
A |
3: 79,313,183 (GRCm39) |
F86I |
probably benign |
Het |
| Tap1 |
A |
G |
17: 34,412,525 (GRCm39) |
S521G |
probably damaging |
Het |
| Tbc1d13 |
C |
T |
2: 30,032,429 (GRCm39) |
T180I |
possibly damaging |
Het |
| Tgm7 |
G |
A |
2: 120,940,191 (GRCm39) |
|
probably benign |
Het |
| Tiam1 |
A |
G |
16: 89,664,459 (GRCm39) |
M583T |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Vmn1r43 |
A |
T |
6: 89,847,440 (GRCm39) |
H15Q |
possibly damaging |
Het |
| Zfp329 |
A |
T |
7: 12,544,417 (GRCm39) |
V369E |
probably damaging |
Het |
| Zfp467 |
T |
A |
6: 48,419,603 (GRCm39) |
E35V |
possibly damaging |
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 |
|
R1036:Spata31e5
|
UTSW |
1 |
28,816,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- AGTTCCTACAATACTCCTGCACTG -3'
(R):5'- TCCCATGAAGAGAGACATGCTG -3'
Sequencing Primer
(F):5'- ACAATACTCCTGCACTGCTGGG -3'
(R):5'- TGCTGTCCACTAAGAACACAACTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation