Incidental Mutation 'R9138:Spata31e2'
| ID |
694114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31e2
|
| Ensembl Gene |
ENSMUSG00000073722 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 2 |
| Synonyms |
4931408C20Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9138 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
26720895-26726541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26721253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 1309
(C1309Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097801]
|
| AlphaFold |
E9PWP9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097801
AA Change: C1309Y
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: C1309Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
128 |
474 |
4.6e-28 |
PFAM |
|
internal_repeat_1
|
939 |
1112 |
4.27e-16 |
PROSPERO |
|
internal_repeat_1
|
1204 |
1376 |
4.27e-16 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Adgre5 |
A |
T |
8: 84,452,563 (GRCm39) |
N502K |
probably benign |
Het |
| Ago4 |
T |
A |
4: 126,414,073 (GRCm39) |
K73* |
probably null |
Het |
| Angpt2 |
T |
C |
8: 18,764,162 (GRCm39) |
I127V |
probably benign |
Het |
| Ankhd1 |
TGGCGGCGGCGGCGGCGGCGGCGGC |
TGGCGGCGGCGGCGGCGGCGGC |
18: 36,693,961 (GRCm39) |
|
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,722,626 (GRCm39) |
I368N |
probably damaging |
Het |
| Arhgap5 |
A |
G |
12: 52,609,146 (GRCm39) |
I1374V |
probably benign |
Het |
| B3galt9 |
T |
C |
2: 34,728,920 (GRCm39) |
Y240H |
probably damaging |
Het |
| Bltp3b |
T |
A |
10: 89,615,738 (GRCm39) |
V127D |
probably damaging |
Het |
| Caln1 |
T |
C |
5: 130,698,449 (GRCm39) |
L157P |
probably damaging |
Het |
| Cdh9 |
G |
T |
15: 16,823,273 (GRCm39) |
G85V |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,670,775 (GRCm39) |
V327A |
probably damaging |
Het |
| Col11a2 |
T |
C |
17: 34,279,847 (GRCm39) |
S1156P |
|
Het |
| Cps1 |
G |
A |
1: 67,254,569 (GRCm39) |
V1253M |
probably damaging |
Het |
| Crb1 |
T |
C |
1: 139,162,468 (GRCm39) |
E1291G |
|
Het |
| Dab1 |
A |
T |
4: 104,588,929 (GRCm39) |
K518* |
probably null |
Het |
| Ddias |
A |
T |
7: 92,507,608 (GRCm39) |
I769N |
possibly damaging |
Het |
| Dlg5 |
G |
T |
14: 24,295,376 (GRCm39) |
A48E |
probably damaging |
Het |
| Dok1 |
G |
T |
6: 83,009,806 (GRCm39) |
A101E |
probably damaging |
Het |
| Dpf2 |
T |
C |
19: 5,948,593 (GRCm39) |
N389S |
probably benign |
Het |
| Evi5l |
T |
A |
8: 4,233,582 (GRCm39) |
S22T |
probably benign |
Het |
| Garin5b |
A |
G |
7: 4,773,406 (GRCm39) |
F137S |
|
Het |
| Gm5431 |
T |
A |
11: 48,780,498 (GRCm39) |
R141S |
probably benign |
Het |
| Gmds |
A |
T |
13: 32,311,035 (GRCm39) |
Y197* |
probably null |
Het |
| Gprc5a |
T |
A |
6: 135,056,164 (GRCm39) |
S204T |
probably damaging |
Het |
| H2bc1 |
T |
C |
13: 24,118,112 (GRCm39) |
T10A |
probably benign |
Het |
| Hoxd12 |
T |
A |
2: 74,505,902 (GRCm39) |
S158T |
probably benign |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
TCCCAGGGCC |
TCC |
7: 79,748,079 (GRCm39) |
|
probably null |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Kif16b |
C |
A |
2: 142,542,476 (GRCm39) |
E273D |
|
Het |
| Lct |
T |
C |
1: 128,227,894 (GRCm39) |
I1200V |
probably benign |
Het |
| Lrrfip1 |
T |
A |
1: 91,038,080 (GRCm39) |
L398I |
probably damaging |
Het |
| Mcm4 |
T |
C |
16: 15,447,200 (GRCm39) |
E588G |
probably damaging |
Het |
| Mdga2 |
C |
T |
12: 66,615,663 (GRCm39) |
G648D |
possibly damaging |
Het |
| Mfrp |
A |
G |
9: 44,017,673 (GRCm39) |
Q555R |
possibly damaging |
Het |
| Mtf1 |
C |
T |
4: 124,732,510 (GRCm39) |
Q523* |
probably null |
Het |
| Naf1 |
A |
G |
8: 67,317,198 (GRCm39) |
D230G |
possibly damaging |
Het |
| Nbeal1 |
G |
T |
1: 60,286,904 (GRCm39) |
E909* |
probably null |
Het |
| Nxt1 |
C |
A |
2: 148,517,572 (GRCm39) |
N104K |
probably benign |
Het |
| Ocstamp |
T |
A |
2: 165,237,864 (GRCm39) |
T467S |
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,702 (GRCm39) |
H55R |
probably benign |
Het |
| Or4n4b |
T |
C |
14: 50,536,494 (GRCm39) |
I91V |
probably benign |
Het |
| Or5b123 |
T |
A |
19: 13,596,658 (GRCm39) |
M44K |
probably damaging |
Het |
| Pcdhgc5 |
A |
C |
18: 37,953,892 (GRCm39) |
T389P |
probably benign |
Het |
| Peak1 |
A |
T |
9: 56,164,925 (GRCm39) |
V1001E |
probably benign |
Het |
| Phf11d |
C |
A |
14: 59,602,833 (GRCm39) |
C9F |
probably benign |
Het |
| Pkd1l2 |
T |
A |
8: 117,781,748 (GRCm39) |
T766S |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Psg20 |
A |
T |
7: 18,418,595 (GRCm39) |
N57K |
|
Het |
| Ptpro |
T |
A |
6: 137,388,113 (GRCm39) |
|
probably null |
Het |
| Rasa1 |
T |
C |
13: 85,369,635 (GRCm39) |
I896V |
possibly damaging |
Het |
| Rasa4 |
T |
C |
5: 136,131,455 (GRCm39) |
L483P |
possibly damaging |
Het |
| Septin7 |
A |
G |
9: 25,212,761 (GRCm39) |
Y309C |
probably damaging |
Het |
| Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
| Slco3a1 |
A |
T |
7: 74,009,664 (GRCm39) |
I217N |
probably damaging |
Het |
| Son |
C |
T |
16: 91,452,006 (GRCm39) |
T251I |
possibly damaging |
Het |
| Spen |
T |
C |
4: 141,196,797 (GRCm39) |
D3566G |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,829,335 (GRCm39) |
V1089A |
probably benign |
Het |
| Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
| Tax1bp1 |
A |
G |
6: 52,718,958 (GRCm39) |
E354G |
probably damaging |
Het |
| Timd6 |
A |
T |
11: 46,468,126 (GRCm39) |
T67S |
probably damaging |
Het |
| Tmem63c |
T |
C |
12: 87,128,601 (GRCm39) |
F542S |
probably damaging |
Het |
| Trav12-2 |
T |
C |
14: 53,854,178 (GRCm39) |
S51P |
probably benign |
Het |
| Upf2 |
T |
A |
2: 6,028,132 (GRCm39) |
D739E |
unknown |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,844 (GRCm39) |
H49Q |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,904 (GRCm39) |
D200G |
probably damaging |
Het |
| Vmn2r114 |
C |
A |
17: 23,510,578 (GRCm39) |
C634F |
probably damaging |
Het |
| Zfp444 |
A |
G |
7: 6,192,690 (GRCm39) |
H236R |
probably damaging |
Het |
| Zfp712 |
A |
G |
13: 67,189,318 (GRCm39) |
L403P |
probably damaging |
Het |
| Zmpste24 |
T |
G |
4: 120,923,018 (GRCm39) |
Y399S |
probably damaging |
Het |
|
| Other mutations in Spata31e2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:Spata31e2
|
APN |
1 |
26,724,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00575:Spata31e2
|
APN |
1 |
26,722,013 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL00656:Spata31e2
|
APN |
1 |
26,721,982 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL00671:Spata31e2
|
APN |
1 |
26,723,940 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL00777:Spata31e2
|
APN |
1 |
26,721,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00824:Spata31e2
|
APN |
1 |
26,722,670 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01018:Spata31e2
|
APN |
1 |
26,721,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01148:Spata31e2
|
APN |
1 |
26,724,253 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01631:Spata31e2
|
APN |
1 |
26,724,495 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01901:Spata31e2
|
APN |
1 |
26,721,665 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01957:Spata31e2
|
APN |
1 |
26,724,340 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02031:Spata31e2
|
APN |
1 |
26,724,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02596:Spata31e2
|
APN |
1 |
26,723,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4486001:Spata31e2
|
UTSW |
1 |
26,724,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0026:Spata31e2
|
UTSW |
1 |
26,722,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0026:Spata31e2
|
UTSW |
1 |
26,722,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0043:Spata31e2
|
UTSW |
1 |
26,722,883 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0141:Spata31e2
|
UTSW |
1 |
26,722,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0145:Spata31e2
|
UTSW |
1 |
26,726,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0158:Spata31e2
|
UTSW |
1 |
26,723,032 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0325:Spata31e2
|
UTSW |
1 |
26,724,347 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0627:Spata31e2
|
UTSW |
1 |
26,724,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0733:Spata31e2
|
UTSW |
1 |
26,722,013 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1033:Spata31e2
|
UTSW |
1 |
26,721,466 (GRCm39) |
missense |
probably benign |
|
|
R1074:Spata31e2
|
UTSW |
1 |
26,722,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1108:Spata31e2
|
UTSW |
1 |
26,721,547 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1139:Spata31e2
|
UTSW |
1 |
26,721,746 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1326:Spata31e2
|
UTSW |
1 |
26,723,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1398:Spata31e2
|
UTSW |
1 |
26,724,422 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1422:Spata31e2
|
UTSW |
1 |
26,721,547 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1463:Spata31e2
|
UTSW |
1 |
26,721,222 (GRCm39) |
nonsense |
probably null |
|
|
R1485:Spata31e2
|
UTSW |
1 |
26,724,961 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1568:Spata31e2
|
UTSW |
1 |
26,724,950 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1603:Spata31e2
|
UTSW |
1 |
26,724,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1605:Spata31e2
|
UTSW |
1 |
26,723,511 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1795:Spata31e2
|
UTSW |
1 |
26,722,070 (GRCm39) |
nonsense |
probably null |
|
|
R1945:Spata31e2
|
UTSW |
1 |
26,721,395 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1967:Spata31e2
|
UTSW |
1 |
26,722,454 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2055:Spata31e2
|
UTSW |
1 |
26,724,813 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2093:Spata31e2
|
UTSW |
1 |
26,721,222 (GRCm39) |
nonsense |
probably null |
|
|
R2131:Spata31e2
|
UTSW |
1 |
26,724,935 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2237:Spata31e2
|
UTSW |
1 |
26,724,241 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2314:Spata31e2
|
UTSW |
1 |
26,723,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2407:Spata31e2
|
UTSW |
1 |
26,721,919 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2993:Spata31e2
|
UTSW |
1 |
26,724,909 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4245:Spata31e2
|
UTSW |
1 |
26,721,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4567:Spata31e2
|
UTSW |
1 |
26,722,198 (GRCm39) |
missense |
probably benign |
|
|
R4605:Spata31e2
|
UTSW |
1 |
26,722,267 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4708:Spata31e2
|
UTSW |
1 |
26,723,521 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4827:Spata31e2
|
UTSW |
1 |
26,724,923 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4839:Spata31e2
|
UTSW |
1 |
26,724,440 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4888:Spata31e2
|
UTSW |
1 |
26,722,628 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5075:Spata31e2
|
UTSW |
1 |
26,722,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5101:Spata31e2
|
UTSW |
1 |
26,722,417 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5231:Spata31e2
|
UTSW |
1 |
26,723,032 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5310:Spata31e2
|
UTSW |
1 |
26,724,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5459:Spata31e2
|
UTSW |
1 |
26,724,272 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5520:Spata31e2
|
UTSW |
1 |
26,724,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5608:Spata31e2
|
UTSW |
1 |
26,722,129 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5960:Spata31e2
|
UTSW |
1 |
26,722,225 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6128:Spata31e2
|
UTSW |
1 |
26,724,506 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6188:Spata31e2
|
UTSW |
1 |
26,724,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6319:Spata31e2
|
UTSW |
1 |
26,724,482 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6339:Spata31e2
|
UTSW |
1 |
26,721,586 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6431:Spata31e2
|
UTSW |
1 |
26,723,111 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6456:Spata31e2
|
UTSW |
1 |
26,724,250 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6562:Spata31e2
|
UTSW |
1 |
26,721,443 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6645:Spata31e2
|
UTSW |
1 |
26,722,198 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6647:Spata31e2
|
UTSW |
1 |
26,721,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6919:Spata31e2
|
UTSW |
1 |
26,722,015 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7085:Spata31e2
|
UTSW |
1 |
26,722,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7183:Spata31e2
|
UTSW |
1 |
26,721,914 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7347:Spata31e2
|
UTSW |
1 |
26,723,548 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7488:Spata31e2
|
UTSW |
1 |
26,723,039 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7565:Spata31e2
|
UTSW |
1 |
26,724,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7726:Spata31e2
|
UTSW |
1 |
26,723,579 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8258:Spata31e2
|
UTSW |
1 |
26,721,562 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8259:Spata31e2
|
UTSW |
1 |
26,721,562 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8701:Spata31e2
|
UTSW |
1 |
26,724,526 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8905:Spata31e2
|
UTSW |
1 |
26,721,895 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9137:Spata31e2
|
UTSW |
1 |
26,724,715 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9170:Spata31e2
|
UTSW |
1 |
26,723,485 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9287:Spata31e2
|
UTSW |
1 |
26,722,426 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9331:Spata31e2
|
UTSW |
1 |
26,722,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9535:Spata31e2
|
UTSW |
1 |
26,721,232 (GRCm39) |
nonsense |
probably null |
|
|
R9719:Spata31e2
|
UTSW |
1 |
26,722,820 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0025:Spata31e2
|
UTSW |
1 |
26,721,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0061:Spata31e2
|
UTSW |
1 |
26,721,650 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCAGTAACACCTGACTG -3'
(R):5'- CGTCTTGTGTTAATACCCAGGG -3'
Sequencing Primer
(F):5'- CTGACTGGTGTTGGCCTCC -3'
(R):5'- CATGATGAACATCCAAACAGTGTG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation