Incidental Mutation 'R7565:Spata31e2'
| ID |
585346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31e2
|
| Ensembl Gene |
ENSMUSG00000073722 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 2 |
| Synonyms |
4931408C20Rik |
| MMRRC Submission |
045710-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7565 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
26720895-26726541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26724351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 276
(N276K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097801]
|
| AlphaFold |
E9PWP9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097801
AA Change: N276K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: N276K
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,452,750 (GRCm39) |
Y63F |
possibly damaging |
Het |
| Abi1 |
A |
T |
2: 22,836,596 (GRCm39) |
I421N |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,993,520 (GRCm39) |
I4935V |
probably benign |
Het |
| Atg12 |
A |
C |
18: 46,867,551 (GRCm39) |
V131G |
probably damaging |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG |
TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG |
3: 95,795,456 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT |
CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT |
3: 95,795,450 (GRCm39) |
|
probably benign |
Het |
| Bcl3 |
C |
T |
7: 19,546,419 (GRCm39) |
V139I |
probably damaging |
Het |
| Bloc1s4 |
T |
A |
5: 36,905,689 (GRCm39) |
M101L |
probably benign |
Het |
| Bmp6 |
C |
T |
13: 38,530,233 (GRCm39) |
Q109* |
probably null |
Het |
| Cabyr |
C |
T |
18: 12,877,656 (GRCm39) |
T28I |
possibly damaging |
Het |
| Catsper3 |
T |
C |
13: 55,932,538 (GRCm39) |
S22P |
probably benign |
Het |
| Catsperg2 |
A |
T |
7: 29,412,406 (GRCm39) |
C395S |
probably null |
Het |
| Cd101 |
T |
C |
3: 100,926,108 (GRCm39) |
T208A |
probably benign |
Het |
| Chaf1a |
A |
G |
17: 56,371,148 (GRCm39) |
S678G |
probably benign |
Het |
| Chrna2 |
A |
C |
14: 66,388,484 (GRCm39) |
I500L |
probably benign |
Het |
| Cln6 |
C |
T |
9: 62,758,039 (GRCm39) |
T266I |
possibly damaging |
Het |
| Col17a1 |
T |
A |
19: 47,659,963 (GRCm39) |
T330S |
possibly damaging |
Het |
| Cyp2d40 |
A |
G |
15: 82,644,975 (GRCm39) |
V225A |
unknown |
Het |
| Dnah10 |
A |
G |
5: 124,876,095 (GRCm39) |
N2645D |
probably damaging |
Het |
| Dph5 |
T |
A |
3: 115,686,446 (GRCm39) |
V74D |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 63,000,435 (GRCm39) |
I586L |
probably damaging |
Het |
| Elane |
G |
A |
10: 79,722,879 (GRCm39) |
R95Q |
probably benign |
Het |
| Fbxw17 |
A |
G |
13: 50,587,398 (GRCm39) |
T453A |
probably damaging |
Het |
| Fpr3 |
C |
A |
17: 18,191,227 (GRCm39) |
T166K |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,191,063 (GRCm39) |
I2724T |
probably benign |
Het |
| Fsip2 |
C |
T |
2: 82,779,856 (GRCm39) |
R201C |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,642,630 (GRCm39) |
N767S |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,633,050 (GRCm39) |
F11Y |
possibly damaging |
Het |
| Hyal4 |
T |
A |
6: 24,765,933 (GRCm39) |
M429K |
possibly damaging |
Het |
| Itgad |
A |
T |
7: 127,782,187 (GRCm39) |
T208S |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,329,862 (GRCm39) |
L1552R |
probably benign |
Het |
| Kcp |
C |
T |
6: 29,499,186 (GRCm39) |
C292Y |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,109,503 (GRCm39) |
K958R |
probably damaging |
Het |
| Klhl22 |
T |
A |
16: 17,607,148 (GRCm39) |
W485R |
probably damaging |
Het |
| Ldhb |
T |
A |
6: 142,438,245 (GRCm39) |
I271F |
possibly damaging |
Het |
| Lmo7 |
A |
G |
14: 102,122,737 (GRCm39) |
R309G |
probably damaging |
Het |
| Marco |
C |
A |
1: 120,402,395 (GRCm39) |
C517F |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,221,891 (GRCm39) |
T1423I |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,218,600 (GRCm39) |
S1410G |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,292,091 (GRCm39) |
N283S |
probably damaging |
Het |
| Nlrp14 |
T |
A |
7: 106,781,094 (GRCm39) |
L97* |
probably null |
Het |
| Olfm3 |
T |
G |
3: 114,916,393 (GRCm39) |
S442A |
probably damaging |
Het |
| Or10p1 |
A |
G |
10: 129,444,029 (GRCm39) |
V107A |
possibly damaging |
Het |
| Or14j10 |
T |
C |
17: 37,935,392 (GRCm39) |
I45V |
probably damaging |
Het |
| Or2ag12 |
T |
C |
7: 106,277,333 (GRCm39) |
Y120C |
probably damaging |
Het |
| Or5a1 |
T |
A |
19: 12,097,375 (GRCm39) |
S234C |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,212 (GRCm39) |
T95A |
probably benign |
Het |
| Pank4 |
G |
A |
4: 155,065,007 (GRCm39) |
V769I |
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,216,336 (GRCm39) |
D1065N |
probably damaging |
Het |
| Ppp1r12a |
G |
A |
10: 108,104,501 (GRCm39) |
S911N |
probably benign |
Het |
| Prdx6b |
A |
G |
2: 80,123,334 (GRCm39) |
T48A |
probably damaging |
Het |
| Pttg1ip |
A |
G |
10: 77,432,870 (GRCm39) |
K166E |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,078,987 (GRCm39) |
D9G |
|
Het |
| Rpl13a |
C |
T |
7: 44,776,466 (GRCm39) |
G69S |
probably benign |
Het |
| Rps6ka5 |
T |
A |
12: 100,582,342 (GRCm39) |
I177F |
probably damaging |
Het |
| Rttn |
C |
A |
18: 89,078,603 (GRCm39) |
A1343E |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,575,539 (GRCm39) |
V4820I |
possibly damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,938,891 (GRCm39) |
I223V |
possibly damaging |
Het |
| Slc9a3 |
G |
A |
13: 74,305,813 (GRCm39) |
V277M |
probably damaging |
Het |
| Spata13 |
A |
T |
14: 60,989,298 (GRCm39) |
Y988F |
probably damaging |
Het |
| Spo11 |
A |
G |
2: 172,833,864 (GRCm39) |
I329V |
possibly damaging |
Het |
| Tcp11l2 |
A |
T |
10: 84,422,998 (GRCm39) |
D63V |
probably damaging |
Het |
| Tdrd3 |
G |
A |
14: 87,744,029 (GRCm39) |
W659* |
probably null |
Het |
| Thnsl2 |
T |
C |
6: 71,118,311 (GRCm39) |
D39G |
probably benign |
Het |
| Thumpd1 |
A |
T |
7: 119,316,085 (GRCm39) |
L288* |
probably null |
Het |
| Tram1l1 |
T |
C |
3: 124,115,556 (GRCm39) |
Y239H |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 81,708,601 (GRCm39) |
E992D |
probably damaging |
Het |
| Usp45 |
A |
G |
4: 21,784,790 (GRCm39) |
T159A |
probably benign |
Het |
| Vmn1r218 |
C |
T |
13: 23,320,830 (GRCm39) |
T59I |
probably benign |
Het |
| Vmn2r70 |
T |
C |
7: 85,214,499 (GRCm39) |
I218V |
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,183,488 (GRCm39) |
I461V |
probably benign |
Het |
| Ydjc |
T |
C |
16: 16,964,869 (GRCm39) |
L8P |
probably damaging |
Het |
| Yme1l1 |
A |
T |
2: 23,050,232 (GRCm39) |
N21I |
possibly damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,455,426 (GRCm39) |
L1140P |
probably benign |
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 |
|
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'- TCCCTGAAGCTGTGTCAGTTC -3'
(R):5'- CAAGCTTGGTAGGTGTAACAGG -3'
Sequencing Primer
(F):5'- ACAGAATCTGACATGGGTTCC -3'
(R):5'- AAGCTTGGTAGGTGTAACAGGAGTTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation