Incidental Mutation 'R5310:Spata31e2'
ID 404754
Institutional Source Beutler Lab
Gene Symbol Spata31e2
Ensembl Gene ENSMUSG00000073722
Gene Name spermatogenesis associated 31 subfamily E member 2
Synonyms 4931408C20Rik
MMRRC Submission 042893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5310 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 26720895-26726541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 26724169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 337 (V337G)
Ref Sequence ENSEMBL: ENSMUSP00000095410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097801]
AlphaFold E9PWP9
Predicted Effect probably benign
Transcript: ENSMUST00000097801
AA Change: V337G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: V337G

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: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.7%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,931,839 (GRCm39) I31L possibly damaging Het
Abca17 T C 17: 24,500,204 (GRCm39) K1329R probably benign Het
Acap2 A G 16: 30,952,427 (GRCm39) Y197H probably benign Het
Adgrv1 A G 13: 81,624,809 (GRCm39) V3720A possibly damaging Het
Alms1 T A 6: 85,592,350 (GRCm39) S870T possibly damaging Het
Anapc4 A G 5: 53,016,501 (GRCm39) E493G probably benign Het
Ap2a1 A G 7: 44,555,489 (GRCm39) probably null Het
Arhgef38 A G 3: 132,822,227 (GRCm39) L179P probably damaging Het
Bicral T C 17: 47,124,909 (GRCm39) D630G possibly damaging Het
Ccdc97 A T 7: 25,415,201 (GRCm39) L154Q probably damaging Het
Cd40 T C 2: 164,905,483 (GRCm39) probably null Het
Celsr1 T A 15: 85,810,423 (GRCm39) N2155I possibly damaging Het
Cemip A T 7: 83,641,241 (GRCm39) L261H probably damaging Het
Cep57 G A 9: 13,730,164 (GRCm39) H98Y probably damaging Het
Chrna7 A T 7: 62,755,805 (GRCm39) L247Q probably damaging Het
Cyp2c40 T A 19: 39,766,474 (GRCm39) M374L probably damaging Het
Cyp4f13 T C 17: 33,144,795 (GRCm39) D372G probably damaging Het
Dazl C A 17: 50,588,311 (GRCm39) S288I probably damaging Het
Dnah5 T C 15: 28,311,474 (GRCm39) F1818L probably damaging Het
Echdc1 T C 10: 29,210,204 (GRCm39) V143A possibly damaging Het
Eif4enif1 T A 11: 3,192,687 (GRCm39) H838Q probably damaging Het
Erich3 A T 3: 154,469,217 (GRCm39) D1223V probably damaging Het
Fbxl2 A G 9: 113,815,576 (GRCm39) I229T possibly damaging Het
Gfm2 G A 13: 97,299,659 (GRCm39) A406T probably damaging Het
Ggnbp2 A G 11: 84,760,794 (GRCm39) M1T probably null Het
Glb1l2 C T 9: 26,708,162 (GRCm39) probably benign Het
Gnl2 A G 4: 124,946,633 (GRCm39) K618R probably benign Het
Greb1 A T 12: 16,766,760 (GRCm39) I346K probably benign Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Gtse1 A G 15: 85,757,993 (GRCm39) Q533R probably benign Het
Hemgn A G 4: 46,403,927 (GRCm39) S23P possibly damaging Het
Htr6 G T 4: 138,788,977 (GRCm39) H359Q probably damaging Het
Ifit1 T C 19: 34,626,204 (GRCm39) F447L probably benign Het
Kansl1 T C 11: 104,315,684 (GRCm39) Y118C possibly damaging Het
Khk G A 5: 31,084,373 (GRCm39) V118M probably benign Het
Klra17 T A 6: 129,845,671 (GRCm39) K181M probably damaging Het
Lbh T C 17: 73,228,287 (GRCm39) probably null Het
Lmo2 T C 2: 103,806,445 (GRCm39) I108T probably damaging Het
Maco1 T C 4: 134,564,330 (GRCm39) probably benign Het
Mgat5 T A 1: 127,315,251 (GRCm39) probably null Het
Mink1 T C 11: 70,498,169 (GRCm39) V525A probably benign Het
Myo10 C A 15: 25,778,164 (GRCm39) probably null Het
Nlrp2 T C 7: 5,328,007 (GRCm39) N682S probably benign Het
Nr2e3 G A 9: 59,856,617 (GRCm39) probably benign Het
Or5p5 T C 7: 107,414,171 (GRCm39) C129R probably damaging Het
Or6b2b T C 1: 92,418,758 (GRCm39) T240A probably damaging Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Pfas G A 11: 68,878,847 (GRCm39) S1319F probably damaging Het
Phf3 T C 1: 30,842,887 (GRCm39) K2024R probably damaging Het
Pld4 G A 12: 112,735,046 (GRCm39) C501Y probably damaging Het
Psg16 C T 7: 16,824,560 (GRCm39) R115W probably damaging Het
Rab3gap1 G A 1: 127,870,110 (GRCm39) probably null Het
Rimkla C A 4: 119,335,049 (GRCm39) K111N probably damaging Het
Rrm2b T C 15: 37,927,571 (GRCm39) E113G probably damaging Het
Rspry1 C T 8: 95,349,813 (GRCm39) T67I probably benign Het
Skint6 C A 4: 113,041,965 (GRCm39) E292* probably null Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc13a1 A G 6: 24,134,373 (GRCm39) M170T probably benign Het
Slc15a5 T C 6: 138,050,034 (GRCm39) N127S probably benign Het
Slc39a10 G A 1: 46,875,285 (GRCm39) H6Y probably damaging Het
Sugct A T 13: 17,427,145 (GRCm39) C338* probably null Het
Tbk1 A T 10: 121,391,956 (GRCm39) M486K probably benign Het
Terf1 A T 1: 15,875,909 (GRCm39) E3V probably damaging Het
Thoc5 T A 11: 4,860,648 (GRCm39) Y246N probably damaging Het
Tmem167b G A 3: 108,469,415 (GRCm39) probably benign Het
Tmtc1 T A 6: 148,256,910 (GRCm39) probably benign Het
Zfp322a A T 13: 23,541,532 (GRCm39) M70K possibly damaging Het
Zfp979 A T 4: 147,698,375 (GRCm39) H111Q possibly damaging 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
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
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'- CACTGGGATTCTTCTTGAATGTGC -3'
(R):5'- TGTCAAGCAGCCATTAGCCAG -3'

Sequencing Primer
(F):5'- TTAGCTAAGGCCCTCTTTAAGG -3'
(R):5'- GCCATTAGCCAGCCCACTG -3'
Posted On 2016-07-22