Incidental Mutation 'R4245:Spata31e2'
ID 320363
Institutional Source Beutler Lab
Gene Symbol Spata31e2
Ensembl Gene ENSMUSG00000073722
Gene Name spermatogenesis associated 31 subfamily E member 2
Synonyms 4931408C20Rik
MMRRC Submission 041061-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4245 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 26720895-26726541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26721161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1340 (N1340D)
Ref Sequence ENSEMBL: ENSMUSP00000095410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097801]
AlphaFold E9PWP9
Predicted Effect probably benign
Transcript: ENSMUST00000097801
AA Change: N1340D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: N1340D

DomainStartEndE-ValueType
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik T A 3: 59,733,203 (GRCm39) noncoding transcript Het
Acacb A T 5: 114,368,845 (GRCm39) T1688S probably damaging Het
Actr1b T C 1: 36,740,911 (GRCm39) Y171C possibly damaging Het
C8a A G 4: 104,733,543 (GRCm39) V4A probably benign Het
Ccdc171 A G 4: 83,473,045 (GRCm39) D158G probably damaging Het
Ccdc184 T A 15: 98,066,750 (GRCm39) probably null Het
Cdc23 T C 18: 34,770,100 (GRCm39) probably benign Het
Dnah5 A G 15: 28,219,335 (GRCm39) N51S probably benign Het
Dock10 T A 1: 80,544,472 (GRCm39) E905V probably benign Het
Eepd1 T C 9: 25,505,920 (GRCm39) I460T probably benign Het
Fen1 T A 19: 10,177,731 (GRCm39) I238F probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm5493 A G 17: 22,966,199 (GRCm39) E28G probably benign Het
Jakmip2 A G 18: 43,710,501 (GRCm39) V234A probably benign Het
Map3k6 T C 4: 132,979,258 (GRCm39) Y1204H possibly damaging Het
Mpeg1 C A 19: 12,440,272 (GRCm39) Q577K probably damaging Het
Mthfd1 T C 12: 76,348,047 (GRCm39) S564P probably damaging Het
Mtmr11 T A 3: 96,075,393 (GRCm39) C358S probably damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Myo18b G A 5: 112,840,261 (GRCm39) H2511Y possibly damaging Het
Ndufs6 A T 13: 73,468,512 (GRCm39) D62E probably damaging Het
Or5af2 T C 11: 58,708,604 (GRCm39) Y257H probably damaging Het
Or7e178 T C 9: 20,225,629 (GRCm39) I196V possibly damaging Het
Pcdhga1 T A 18: 37,796,605 (GRCm39) D536E probably damaging Het
Phactr3 G A 2: 177,924,982 (GRCm39) probably null Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptk2 C T 15: 73,103,825 (GRCm39) G749D probably benign Het
Rab3il1 A T 19: 10,007,518 (GRCm39) D222V probably damaging Het
Radil T C 5: 142,529,546 (GRCm39) D50G probably damaging Het
Rfx7 A G 9: 72,499,051 (GRCm39) T72A possibly damaging Het
Scn7a T C 2: 66,572,345 (GRCm39) I209V probably benign Het
Sf3a1 C T 11: 4,117,774 (GRCm39) R179C probably damaging Het
Styxl2 T C 1: 165,928,685 (GRCm39) E309G probably damaging Het
Tg T C 15: 66,568,318 (GRCm39) V1335A possibly damaging Het
Thnsl1 A G 2: 21,217,059 (GRCm39) E271G probably benign Het
Vill T A 9: 118,900,359 (GRCm39) probably benign Het
Vmn2r79 A G 7: 86,651,624 (GRCm39) D341G possibly damaging Het
Wdr59 T C 8: 112,216,996 (GRCm39) N272D possibly damaging Het
Zar1 T C 5: 72,737,736 (GRCm39) E121G possibly damaging Het
Zfp985 A G 4: 147,667,396 (GRCm39) K88R probably damaging Het
Zscan29 C T 2: 120,995,275 (GRCm39) probably null Het
Other mutations in Spata31e2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GAATGGCTTGAGGTACCCATTC -3'
(R):5'- GAAGAGGCTTTGACCACGTC -3'

Sequencing Primer
(F):5'- GAGGTACCCATTCTTTGGCC -3'
(R):5'- GCAAGCAGCAGTCAGGTC -3'
Posted On 2015-06-12