Incidental Mutation 'R1945:Spata31e2'
ID |
216537 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31e2
|
Ensembl Gene |
ENSMUSG00000073722 |
Gene Name |
spermatogenesis associated 31 subfamily E member 2 |
Synonyms |
4931408C20Rik |
MMRRC Submission |
039963-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1945 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
26720895-26726541 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 26721395 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 1262
(V1262F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095410
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097801]
|
AlphaFold |
E9PWP9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097801
AA Change: V1262F
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000095410 Gene: ENSMUSG00000073722 AA Change: V1262F
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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
G |
16: 4,653,549 (GRCm39) |
I33V |
unknown |
Het |
Abca1 |
ACGTCTTCACCAGGTAATC |
AC |
4: 53,061,509 (GRCm39) |
|
probably null |
Het |
Amotl2 |
T |
C |
9: 102,597,753 (GRCm39) |
S171P |
probably benign |
Het |
Armh4 |
T |
A |
14: 50,005,940 (GRCm39) |
E585V |
probably damaging |
Het |
Atf6 |
A |
T |
1: 170,682,710 (GRCm39) |
V34E |
probably benign |
Het |
Atrip |
T |
A |
9: 108,900,935 (GRCm39) |
I135F |
probably damaging |
Het |
Bglap |
A |
G |
3: 88,290,971 (GRCm39) |
Y87H |
probably damaging |
Het |
Camk2n1 |
G |
A |
4: 138,184,094 (GRCm39) |
V78I |
possibly damaging |
Het |
Ccdc92b |
A |
G |
11: 74,520,835 (GRCm39) |
I46V |
probably benign |
Het |
Cdc14b |
T |
C |
13: 64,367,704 (GRCm39) |
Y208C |
probably damaging |
Het |
Cdc42bpb |
C |
T |
12: 111,265,567 (GRCm39) |
R1455Q |
probably damaging |
Het |
Cep170 |
C |
A |
1: 176,621,100 (GRCm39) |
G26* |
probably null |
Het |
Cfap46 |
A |
G |
7: 139,259,819 (GRCm39) |
F217S |
probably damaging |
Het |
Col11a2 |
A |
T |
17: 34,278,142 (GRCm39) |
D691V |
probably damaging |
Het |
Col7a1 |
G |
A |
9: 108,789,078 (GRCm39) |
V798I |
unknown |
Het |
Coq8b |
CGCA |
CGCAGCA |
7: 26,933,405 (GRCm39) |
|
probably benign |
Het |
Coq8b |
GCA |
GCAACA |
7: 26,933,406 (GRCm39) |
|
probably benign |
Het |
Dcaf5 |
T |
C |
12: 80,385,468 (GRCm39) |
D886G |
probably benign |
Het |
Ern1 |
A |
G |
11: 106,312,776 (GRCm39) |
S202P |
probably damaging |
Het |
Etaa1 |
A |
G |
11: 17,897,233 (GRCm39) |
C295R |
probably damaging |
Het |
Ghdc |
C |
T |
11: 100,660,031 (GRCm39) |
A239T |
probably benign |
Het |
Grik4 |
T |
C |
9: 42,432,300 (GRCm39) |
D899G |
possibly damaging |
Het |
Hacd2 |
C |
A |
16: 34,922,354 (GRCm39) |
T181K |
possibly damaging |
Het |
Havcr2 |
T |
C |
11: 46,345,877 (GRCm39) |
L17P |
unknown |
Het |
Herc3 |
T |
C |
6: 58,864,424 (GRCm39) |
V686A |
probably damaging |
Het |
Hyal3 |
T |
C |
9: 107,462,671 (GRCm39) |
L235P |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,884,279 (GRCm39) |
Q988* |
probably null |
Het |
Itprid2 |
T |
C |
2: 79,492,996 (GRCm39) |
V1181A |
probably benign |
Het |
Krt32 |
T |
A |
11: 99,975,670 (GRCm39) |
|
probably null |
Het |
Krt33a |
T |
C |
11: 99,903,535 (GRCm39) |
N199S |
probably benign |
Het |
Lama1 |
T |
A |
17: 68,052,848 (GRCm39) |
S394T |
probably benign |
Het |
Lamp1 |
T |
C |
8: 13,222,545 (GRCm39) |
V243A |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,492,504 (GRCm39) |
Y1315C |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,384,453 (GRCm39) |
L1148* |
probably null |
Het |
Mill2 |
A |
G |
7: 18,575,419 (GRCm39) |
H42R |
probably benign |
Het |
Myo15a |
T |
C |
11: 60,392,909 (GRCm39) |
F2194L |
probably damaging |
Het |
Myo15b |
A |
T |
11: 115,769,224 (GRCm39) |
I1472F |
probably damaging |
Het |
Nasp |
T |
C |
4: 116,479,965 (GRCm39) |
S36G |
possibly damaging |
Het |
Nav2 |
A |
G |
7: 49,114,620 (GRCm39) |
Y868C |
probably damaging |
Het |
Niban1 |
T |
C |
1: 151,571,979 (GRCm39) |
I308T |
probably damaging |
Het |
Nono |
T |
C |
X: 100,485,429 (GRCm39) |
|
probably null |
Het |
Npc1l1 |
T |
A |
11: 6,164,588 (GRCm39) |
I1154F |
possibly damaging |
Het |
Npc1l1 |
C |
T |
11: 6,175,199 (GRCm39) |
W592* |
probably null |
Het |
Nsg2 |
T |
C |
11: 32,005,068 (GRCm39) |
V90A |
probably damaging |
Het |
Odf4 |
T |
C |
11: 68,812,983 (GRCm39) |
N225S |
possibly damaging |
Het |
Oosp2 |
C |
T |
19: 11,626,959 (GRCm39) |
|
probably null |
Het |
Or1j12 |
T |
C |
2: 36,343,043 (GRCm39) |
W149R |
probably damaging |
Het |
Or4c123 |
T |
C |
2: 89,127,128 (GRCm39) |
Y162C |
probably damaging |
Het |
Pcdhb4 |
A |
T |
18: 37,441,921 (GRCm39) |
R410S |
probably damaging |
Het |
Pde6c |
T |
A |
19: 38,145,967 (GRCm39) |
D418E |
probably damaging |
Het |
Pik3ap1 |
A |
T |
19: 41,262,776 (GRCm39) |
S799T |
probably benign |
Het |
Pitx2 |
A |
G |
3: 129,012,185 (GRCm39) |
N198S |
probably damaging |
Het |
Psmb3 |
T |
C |
11: 97,601,981 (GRCm39) |
F117S |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,418,249 (GRCm39) |
M1709K |
probably benign |
Het |
Recql5 |
G |
A |
11: 115,819,123 (GRCm39) |
R148* |
probably null |
Het |
Reep3 |
A |
G |
10: 66,871,678 (GRCm39) |
S97P |
probably damaging |
Het |
Rnase12 |
T |
A |
14: 51,294,463 (GRCm39) |
Q72L |
possibly damaging |
Het |
Scd3 |
T |
C |
19: 44,224,219 (GRCm39) |
Y151H |
probably benign |
Het |
Scn10a |
A |
T |
9: 119,520,520 (GRCm39) |
S127T |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,506,324 (GRCm39) |
W1522R |
probably damaging |
Het |
Senp7 |
A |
G |
16: 55,944,309 (GRCm39) |
H211R |
probably damaging |
Het |
Septin10 |
C |
T |
10: 59,016,841 (GRCm39) |
|
probably null |
Het |
Serpinb6d |
T |
C |
13: 33,851,663 (GRCm39) |
V140A |
possibly damaging |
Het |
Sned1 |
A |
G |
1: 93,198,960 (GRCm39) |
E457G |
probably benign |
Het |
Spag17 |
A |
C |
3: 99,847,298 (GRCm39) |
M76L |
probably benign |
Het |
Spata31e3 |
C |
T |
13: 50,399,527 (GRCm39) |
G933E |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,466,707 (GRCm39) |
E105V |
possibly damaging |
Het |
Stoml3 |
T |
A |
3: 53,412,866 (GRCm39) |
D173E |
possibly damaging |
Het |
Sun3 |
T |
C |
11: 8,988,296 (GRCm39) |
I9V |
probably benign |
Het |
Svil |
T |
C |
18: 5,117,059 (GRCm39) |
W2165R |
probably damaging |
Het |
Tbl2 |
T |
A |
5: 135,186,454 (GRCm39) |
S184T |
possibly damaging |
Het |
Tdrd7 |
A |
T |
4: 45,965,474 (GRCm39) |
T31S |
probably benign |
Het |
Tmeff1 |
A |
G |
4: 48,614,960 (GRCm39) |
N139S |
possibly damaging |
Het |
Trip13 |
T |
C |
13: 74,076,043 (GRCm39) |
R199G |
probably damaging |
Het |
Tshb |
G |
T |
3: 102,684,831 (GRCm39) |
Y124* |
probably null |
Het |
Ttn |
T |
C |
2: 76,560,366 (GRCm39) |
E29345G |
probably damaging |
Het |
Usp33 |
T |
A |
3: 152,085,223 (GRCm39) |
S620T |
probably benign |
Het |
Vipr1 |
G |
A |
9: 121,497,540 (GRCm39) |
G353R |
probably damaging |
Het |
Vipr1 |
G |
T |
9: 121,497,541 (GRCm39) |
G353V |
probably damaging |
Het |
Vps13c |
A |
T |
9: 67,793,558 (GRCm39) |
D437V |
probably damaging |
Het |
Ylpm1 |
T |
A |
12: 85,062,192 (GRCm39) |
S240T |
probably damaging |
Het |
Zfp772 |
A |
G |
7: 7,206,629 (GRCm39) |
I354T |
probably benign |
Het |
Zfp959 |
T |
A |
17: 56,204,231 (GRCm39) |
Y86* |
probably null |
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 |
|
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 |
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'- AGGACAATGCCTGGTTGCTC -3'
(R):5'- GATGACCATAAATTCTGTGACCCAG -3'
Sequencing Primer
(F):5'- GACAATGCCTGGTTGCTCATTATTTC -3'
(R):5'- CTGTGACCCAGAACAAATTAGAATG -3'
|
Posted On |
2014-08-01 |