Incidental Mutation 'R7347:Spata31e2'
ID |
570240 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31e2
|
Ensembl Gene |
ENSMUSG00000073722 |
Gene Name |
spermatogenesis associated 31 subfamily E member 2 |
Synonyms |
4931408C20Rik |
MMRRC Submission |
045374-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7347 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
26720895-26726541 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 26723548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 544
(L544Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095410
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097801]
|
AlphaFold |
E9PWP9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097801
AA Change: L544Q
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000095410 Gene: ENSMUSG00000073722 AA Change: L544Q
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (80/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930564D02Rik |
G |
T |
3: 104,985,728 (GRCm39) |
R47S |
unknown |
Het |
Abtb2 |
T |
G |
2: 103,397,757 (GRCm39) |
I229S |
probably damaging |
Het |
Adgre1 |
T |
C |
17: 57,727,441 (GRCm39) |
L457P |
probably damaging |
Het |
Amer3 |
C |
A |
1: 34,626,983 (GRCm39) |
D407E |
probably damaging |
Het |
Arhgap20 |
T |
C |
9: 51,760,335 (GRCm39) |
S729P |
probably benign |
Het |
Asap2 |
T |
G |
12: 21,279,458 (GRCm39) |
I418S |
probably benign |
Het |
Atp5mf |
T |
C |
5: 145,125,295 (GRCm39) |
|
probably null |
Het |
Brinp3 |
T |
A |
1: 146,777,824 (GRCm39) |
V757E |
probably benign |
Het |
Brip1 |
C |
T |
11: 86,029,929 (GRCm39) |
G572R |
probably benign |
Het |
C3 |
C |
A |
17: 57,530,215 (GRCm39) |
R462L |
probably benign |
Het |
Cat |
T |
A |
2: 103,293,643 (GRCm39) |
H395L |
probably benign |
Het |
Ccdc168 |
G |
T |
1: 44,098,656 (GRCm39) |
P814Q |
probably damaging |
Het |
Cela3a |
T |
C |
4: 137,129,917 (GRCm39) |
N235D |
possibly damaging |
Het |
Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
Cntnap1 |
G |
T |
11: 101,076,094 (GRCm39) |
G993W |
probably damaging |
Het |
Col9a1 |
A |
G |
1: 24,218,484 (GRCm39) |
|
probably null |
Het |
Coro2b |
G |
T |
9: 62,396,654 (GRCm39) |
H29N |
probably benign |
Het |
Dll3 |
C |
T |
7: 27,998,536 (GRCm39) |
R143H |
probably damaging |
Het |
Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
Dync1i1 |
T |
A |
6: 5,784,530 (GRCm39) |
*114R |
probably null |
Het |
Ecm2 |
T |
C |
13: 49,668,554 (GRCm39) |
S86P |
probably damaging |
Het |
Eif5 |
T |
C |
12: 111,506,724 (GRCm39) |
|
probably benign |
Het |
Ets1 |
T |
A |
9: 32,644,328 (GRCm39) |
|
probably null |
Het |
Exph5 |
A |
G |
9: 53,287,196 (GRCm39) |
N1426D |
possibly damaging |
Het |
Eya2 |
T |
C |
2: 165,529,586 (GRCm39) |
F110L |
probably benign |
Het |
Flt1 |
T |
A |
5: 147,517,191 (GRCm39) |
E1032V |
probably damaging |
Het |
Galnt5 |
A |
T |
2: 57,907,205 (GRCm39) |
H556L |
probably benign |
Het |
Glb1l3 |
A |
T |
9: 26,740,299 (GRCm39) |
Y344N |
probably benign |
Het |
Glrx3 |
C |
A |
7: 137,061,015 (GRCm39) |
D216E |
possibly damaging |
Het |
Gm45871 |
T |
A |
18: 90,609,499 (GRCm39) |
C246S |
probably damaging |
Het |
Gstm4 |
A |
G |
3: 107,949,689 (GRCm39) |
L137P |
probably benign |
Het |
Hsd17b13 |
T |
C |
5: 104,116,616 (GRCm39) |
T169A |
probably damaging |
Het |
Hydin |
A |
C |
8: 111,326,994 (GRCm39) |
T4778P |
probably benign |
Het |
Ifna15 |
A |
G |
4: 88,476,220 (GRCm39) |
L88P |
probably damaging |
Het |
Inhca |
T |
A |
9: 103,159,845 (GRCm39) |
E22V |
possibly damaging |
Het |
Kcnab1 |
G |
A |
3: 65,283,952 (GRCm39) |
R390H |
probably benign |
Het |
Kng1 |
C |
A |
16: 22,886,537 (GRCm39) |
H161N |
possibly damaging |
Het |
Lamp5 |
T |
C |
2: 135,902,878 (GRCm39) |
V199A |
probably benign |
Het |
Lrig3 |
G |
A |
10: 125,845,835 (GRCm39) |
V755M |
probably damaging |
Het |
Mad1l1 |
C |
T |
5: 140,129,799 (GRCm39) |
R412H |
probably damaging |
Het |
Marchf6 |
C |
A |
15: 31,486,505 (GRCm39) |
C350F |
probably benign |
Het |
Mastl |
A |
G |
2: 23,023,401 (GRCm39) |
S441P |
probably damaging |
Het |
Mfsd13b |
A |
T |
7: 120,590,951 (GRCm39) |
M231L |
probably benign |
Het |
Mical2 |
T |
C |
7: 111,981,358 (GRCm39) |
V444A |
probably benign |
Het |
Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
Myo15a |
A |
G |
11: 60,368,787 (GRCm39) |
M516V |
probably benign |
Het |
Myo1b |
A |
T |
1: 51,790,413 (GRCm39) |
F1110L |
probably damaging |
Het |
Nbr1 |
T |
A |
11: 101,460,147 (GRCm39) |
L381* |
probably null |
Het |
Nln |
T |
C |
13: 104,187,355 (GRCm39) |
K325E |
probably damaging |
Het |
Nr4a3 |
T |
G |
4: 48,051,290 (GRCm39) |
S15A |
possibly damaging |
Het |
Nrp2 |
C |
T |
1: 62,784,663 (GRCm39) |
P271S |
probably benign |
Het |
Obox6 |
A |
C |
7: 15,568,571 (GRCm39) |
L102V |
possibly damaging |
Het |
Or4a69 |
T |
C |
2: 89,312,799 (GRCm39) |
S227G |
probably benign |
Het |
Or4p8 |
T |
C |
2: 88,727,615 (GRCm39) |
I109V |
possibly damaging |
Het |
Or7g33 |
A |
G |
9: 19,448,395 (GRCm39) |
M277T |
probably damaging |
Het |
Or8k16 |
T |
C |
2: 85,520,181 (GRCm39) |
M136T |
probably damaging |
Het |
Pde10a |
A |
G |
17: 9,186,294 (GRCm39) |
H567R |
probably damaging |
Het |
Pdgfra |
C |
T |
5: 75,343,759 (GRCm39) |
S760L |
possibly damaging |
Het |
Pid1 |
T |
A |
1: 84,136,850 (GRCm39) |
I94L |
unknown |
Het |
Plekhn1 |
T |
C |
4: 156,307,128 (GRCm39) |
H474R |
probably benign |
Het |
Prcc |
A |
T |
3: 87,776,988 (GRCm39) |
S329T |
possibly damaging |
Het |
Pros1 |
G |
T |
16: 62,739,886 (GRCm39) |
R445L |
probably damaging |
Het |
Pxdn |
C |
A |
12: 30,062,260 (GRCm39) |
H1370Q |
probably benign |
Het |
Sgce |
T |
A |
6: 4,694,106 (GRCm39) |
R283S |
probably damaging |
Het |
Slc25a20 |
T |
G |
9: 108,559,657 (GRCm39) |
|
probably null |
Het |
Slc6a1 |
T |
C |
6: 114,288,779 (GRCm39) |
V446A |
probably damaging |
Het |
Slc6a4 |
C |
G |
11: 76,907,911 (GRCm39) |
Y358* |
probably null |
Het |
Sned1 |
A |
C |
1: 93,209,458 (GRCm39) |
E857A |
probably damaging |
Het |
Spata31e3 |
T |
C |
13: 50,399,780 (GRCm39) |
I849V |
probably benign |
Het |
Spdye4b |
C |
T |
5: 143,188,145 (GRCm39) |
R213C |
possibly damaging |
Het |
Spry2 |
T |
G |
14: 106,130,946 (GRCm39) |
E80A |
probably damaging |
Het |
Stard9 |
G |
A |
2: 120,497,015 (GRCm39) |
C142Y |
probably benign |
Het |
Sync |
A |
T |
4: 129,188,099 (GRCm39) |
Q377L |
probably benign |
Het |
Tdrd12 |
A |
G |
7: 35,185,117 (GRCm39) |
C718R |
|
Het |
Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
Tmbim1 |
T |
C |
1: 74,330,438 (GRCm39) |
E185G |
probably benign |
Het |
Tyk2 |
T |
C |
9: 21,019,330 (GRCm39) |
M1031V |
probably damaging |
Het |
Vmn1r71 |
C |
T |
7: 10,482,428 (GRCm39) |
V87I |
not run |
Het |
Vmn2r49 |
A |
G |
7: 9,720,741 (GRCm39) |
V250A |
probably benign |
Het |
Yipf3 |
A |
C |
17: 46,561,753 (GRCm39) |
T187P |
probably damaging |
Het |
Zfp148 |
G |
T |
16: 33,255,160 (GRCm39) |
R50L |
possibly damaging |
Het |
Zfp628 |
G |
A |
7: 4,924,817 (GRCm39) |
G1013E |
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 |
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'- CACAGTTGTTGCACTCAAGCAG -3'
(R):5'- ATTACTCGGTGTTTCCAAGGC -3'
Sequencing Primer
(F):5'- TGTTGCACTCAAGCAGGAATGTC -3'
(R):5'- GGCTGAATATTATCCCAAAGCTGC -3'
|
Posted On |
2019-09-13 |