Incidental Mutation 'R2237:Spata31e2'
ID |
240423 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31e2
|
Ensembl Gene |
ENSMUSG00000073722 |
Gene Name |
spermatogenesis associated 31 subfamily E member 2 |
Synonyms |
4931408C20Rik |
MMRRC Submission |
040237-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2237 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
26720895-26726541 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 26724241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 313
(M313K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095410
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097801]
|
AlphaFold |
E9PWP9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097801
AA Change: M313K
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000095410 Gene: ENSMUSG00000073722 AA Change: M313K
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
T |
C |
8: 25,136,303 (GRCm39) |
E406G |
probably benign |
Het |
Alox8 |
A |
C |
11: 69,076,597 (GRCm39) |
S572A |
probably benign |
Het |
Aoah |
G |
A |
13: 20,978,481 (GRCm39) |
|
probably benign |
Het |
Arhgap36 |
G |
T |
X: 48,582,282 (GRCm39) |
V60L |
possibly damaging |
Het |
Arhgef37 |
T |
A |
18: 61,637,477 (GRCm39) |
Y395F |
probably damaging |
Het |
Bard1 |
G |
A |
1: 71,114,135 (GRCm39) |
P282L |
probably damaging |
Het |
Brd7 |
T |
A |
8: 89,073,541 (GRCm39) |
E283V |
probably benign |
Het |
Btbd9 |
T |
C |
17: 30,553,302 (GRCm39) |
I387V |
probably benign |
Het |
Cacna1a |
T |
C |
8: 85,360,394 (GRCm39) |
|
probably null |
Het |
Cacna1c |
T |
C |
6: 118,629,704 (GRCm39) |
Q1205R |
possibly damaging |
Het |
Camsap2 |
A |
T |
1: 136,273,069 (GRCm39) |
L36Q |
probably damaging |
Het |
Ccnj |
T |
C |
19: 40,834,219 (GRCm39) |
F261L |
probably benign |
Het |
Cd200r4 |
T |
A |
16: 44,641,260 (GRCm39) |
M1K |
probably null |
Het |
Cdca7l |
A |
G |
12: 117,837,761 (GRCm39) |
E237G |
probably damaging |
Het |
Cep128 |
T |
C |
12: 91,314,341 (GRCm39) |
T146A |
probably benign |
Het |
Clhc1 |
T |
G |
11: 29,519,329 (GRCm39) |
S379A |
probably benign |
Het |
Dbf4 |
T |
A |
5: 8,458,542 (GRCm39) |
I158L |
possibly damaging |
Het |
Deup1 |
A |
C |
9: 15,486,597 (GRCm39) |
I455S |
probably damaging |
Het |
Dlec1 |
T |
C |
9: 118,967,259 (GRCm39) |
|
probably null |
Het |
Eomes |
A |
G |
9: 118,311,359 (GRCm39) |
D394G |
probably damaging |
Het |
Epn1 |
A |
G |
7: 5,100,601 (GRCm39) |
N518S |
probably damaging |
Het |
Espl1 |
G |
A |
15: 102,224,004 (GRCm39) |
R1185H |
probably damaging |
Het |
Evc2 |
T |
C |
5: 37,535,527 (GRCm39) |
S401P |
probably benign |
Het |
Fbxw15 |
A |
G |
9: 109,384,303 (GRCm39) |
S403P |
probably damaging |
Het |
Hsd17b1 |
G |
A |
11: 100,970,652 (GRCm39) |
V236M |
probably damaging |
Het |
Htatsf1 |
G |
T |
X: 56,111,864 (GRCm39) |
D642Y |
unknown |
Het |
Iqca1l |
A |
T |
5: 24,753,292 (GRCm39) |
N453K |
probably benign |
Het |
Itpripl2 |
T |
C |
7: 118,089,294 (GRCm39) |
T422A |
probably benign |
Het |
Izumo4 |
T |
C |
10: 80,538,664 (GRCm39) |
S39P |
probably damaging |
Het |
Kcnh5 |
T |
A |
12: 75,054,493 (GRCm39) |
M484L |
probably benign |
Het |
Kctd8 |
T |
A |
5: 69,267,752 (GRCm39) |
I453F |
probably damaging |
Het |
Kif5c |
A |
G |
2: 49,584,020 (GRCm39) |
T152A |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,941,733 (GRCm39) |
V1809A |
possibly damaging |
Het |
L3mbtl2 |
A |
T |
15: 81,568,531 (GRCm39) |
T512S |
probably benign |
Het |
Ltbp1 |
C |
A |
17: 75,617,158 (GRCm39) |
D1032E |
probably benign |
Het |
Mindy4 |
T |
C |
6: 55,278,055 (GRCm39) |
F633S |
probably damaging |
Het |
Muc5b |
T |
G |
7: 141,415,826 (GRCm39) |
I2924S |
probably benign |
Het |
Nfe2l2 |
G |
A |
2: 75,506,898 (GRCm39) |
P401S |
probably benign |
Het |
Nid1 |
T |
C |
13: 13,675,070 (GRCm39) |
V930A |
probably benign |
Het |
Nt5c1b |
C |
A |
12: 10,425,558 (GRCm39) |
T309K |
probably damaging |
Het |
Nt5m |
A |
G |
11: 59,743,696 (GRCm39) |
K108R |
probably benign |
Het |
Or10v5 |
T |
C |
19: 11,805,814 (GRCm39) |
D192G |
probably damaging |
Het |
Or13p3 |
A |
G |
4: 118,567,192 (GRCm39) |
D196G |
probably damaging |
Het |
Osbpl9 |
T |
A |
4: 109,013,854 (GRCm39) |
Q80L |
probably damaging |
Het |
Osm |
A |
G |
11: 4,188,505 (GRCm39) |
N44S |
possibly damaging |
Het |
Pclo |
C |
T |
5: 14,763,952 (GRCm39) |
P4142S |
unknown |
Het |
Pdlim2 |
T |
G |
14: 70,408,698 (GRCm39) |
T173P |
probably benign |
Het |
Pex1 |
T |
C |
5: 3,668,915 (GRCm39) |
|
probably null |
Het |
Phka2 |
A |
G |
X: 159,324,408 (GRCm39) |
E254G |
probably damaging |
Het |
Pik3cb |
A |
G |
9: 98,923,081 (GRCm39) |
Y984H |
probably damaging |
Het |
Plscr2 |
T |
C |
9: 92,172,877 (GRCm39) |
C179R |
probably damaging |
Het |
Rbpms2 |
C |
A |
9: 65,558,893 (GRCm39) |
Y183* |
probably null |
Het |
Ryr2 |
T |
A |
13: 11,677,146 (GRCm39) |
E3235V |
probably benign |
Het |
Sesn3 |
T |
C |
9: 14,219,761 (GRCm39) |
V50A |
probably benign |
Het |
Siglecf |
T |
C |
7: 43,004,409 (GRCm39) |
V246A |
probably benign |
Het |
Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
Spata4 |
A |
C |
8: 55,055,664 (GRCm39) |
K185T |
probably benign |
Het |
Spin2c |
A |
G |
X: 152,616,672 (GRCm39) |
I162V |
probably damaging |
Het |
Stac |
G |
A |
9: 111,519,190 (GRCm39) |
|
probably benign |
Het |
Tas1r3 |
A |
T |
4: 155,946,675 (GRCm39) |
M310K |
possibly damaging |
Het |
Tenm3 |
G |
A |
8: 48,795,372 (GRCm39) |
P585L |
probably damaging |
Het |
Tnfsf11 |
A |
T |
14: 78,537,421 (GRCm39) |
S81T |
possibly damaging |
Het |
Topaz1 |
C |
T |
9: 122,600,212 (GRCm39) |
T984I |
probably benign |
Het |
Ttll2 |
G |
A |
17: 7,619,522 (GRCm39) |
T135I |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,170,101 (GRCm39) |
S1584G |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn2r80 |
G |
A |
10: 79,004,104 (GRCm39) |
E106K |
probably damaging |
Het |
Xpc |
T |
C |
6: 91,475,090 (GRCm39) |
H643R |
probably damaging |
Het |
Zan |
G |
A |
5: 137,456,099 (GRCm39) |
Q1354* |
probably null |
Het |
Zpld2 |
A |
C |
4: 133,929,516 (GRCm39) |
M263R |
unknown |
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 |
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 |
R9138:Spata31e2
|
UTSW |
1 |
26,721,253 (GRCm39) |
missense |
possibly damaging |
0.90 |
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'- CTGGCTCAACTTGTAGCTTTTG -3'
(R):5'- GCACATCCTACTGCTGAGGTAG -3'
Sequencing Primer
(F):5'- TTGAGGATAGAGGGCTGGCC -3'
(R):5'- CTACTGCTGAGGTAGGGATACAGAC -3'
|
Posted On |
2014-10-15 |