Incidental Mutation 'R1422:Spata31e2'
ID 161107
Institutional Source Beutler Lab
Gene Symbol Spata31e2
Ensembl Gene ENSMUSG00000073722
Gene Name spermatogenesis associated 31 subfamily E member 2
Synonyms 4931408C20Rik
MMRRC Submission 039478-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1422 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 26720895-26726541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 26721547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1211 (S1211T)
Ref Sequence ENSEMBL: ENSMUSP00000095410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097801]
AlphaFold E9PWP9
Predicted Effect possibly damaging
Transcript: ENSMUST00000097801
AA Change: S1211T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: S1211T

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 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.6%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,610,333 (GRCm39) T170A probably benign Het
Arhgap5 T A 12: 52,566,297 (GRCm39) D1089E probably damaging Het
Atrn T C 2: 130,799,834 (GRCm39) Y404H probably damaging Het
Becn1 T C 11: 101,185,952 (GRCm39) D98G possibly damaging Het
Coro2b A G 9: 62,336,229 (GRCm39) probably null Het
Cpne4 T C 9: 104,777,484 (GRCm39) I143T probably damaging Het
Cr2 A G 1: 194,853,433 (GRCm39) I35T probably benign Het
Ctns T C 11: 73,076,072 (GRCm39) Y321C probably damaging Het
Cyp4f16 A T 17: 32,761,973 (GRCm39) M174L probably damaging Het
Dpy19l4 T C 4: 11,317,168 (GRCm39) E10G possibly damaging Het
Dtx3 T A 10: 127,027,158 (GRCm39) I339F possibly damaging Het
Fam184a A T 10: 53,551,304 (GRCm39) M625K probably benign Het
Fgd6 A G 10: 93,881,234 (GRCm39) E696G probably damaging Het
Gm17535 A G 9: 3,035,804 (GRCm39) Y224C probably null Het
Gria1 T A 11: 57,080,614 (GRCm39) L199Q probably benign Het
Hk1 T C 10: 62,131,873 (GRCm39) D184G probably null Het
Ift88 T C 14: 57,675,758 (GRCm39) probably benign Het
Ift88 G A 14: 57,710,436 (GRCm39) V403M probably damaging Het
Igsf1 C A X: 48,871,813 (GRCm39) G737* probably null Het
Kif19a A G 11: 114,676,635 (GRCm39) D488G probably benign Het
Lpcat2 T C 8: 93,606,045 (GRCm39) L232P probably damaging Het
Ly9 A G 1: 171,428,780 (GRCm39) V280A probably damaging Het
Macrod2 T A 2: 140,261,861 (GRCm39) probably null Het
Mmp1a A G 9: 7,464,298 (GRCm39) probably null Het
Mmrn2 A G 14: 34,118,196 (GRCm39) H80R probably damaging Het
Or2b4 T C 17: 38,116,254 (GRCm39) Y73H probably damaging Het
Or51f23 G A 7: 102,453,057 (GRCm39) R124H probably benign Het
Or5l13 G A 2: 87,780,439 (GRCm39) T46I probably benign Het
Pkd1l3 C A 8: 110,348,340 (GRCm39) P194H unknown Het
Plk2 A G 13: 110,536,023 (GRCm39) M576V probably damaging Het
Pms2 T A 5: 143,850,523 (GRCm39) S113T probably damaging Het
Ptprk A G 10: 28,351,276 (GRCm39) I590V possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rad17 A G 13: 100,781,590 (GRCm39) L69P probably benign Het
Rmc1 G A 18: 12,314,680 (GRCm39) D87N probably damaging Het
Robo2 G A 16: 73,775,336 (GRCm39) T466M probably damaging Het
Sema6a A G 18: 47,439,498 (GRCm39) C9R probably benign Het
Slc6a19 A G 13: 73,833,988 (GRCm39) S357P probably benign Het
Spock3 T C 8: 63,597,023 (GRCm39) I109T possibly damaging Het
Svs6 T C 2: 164,159,580 (GRCm39) probably null Het
Tenm4 A T 7: 96,199,258 (GRCm39) D17V probably damaging Het
Trp53bp2 T A 1: 182,274,029 (GRCm39) M558K probably benign Het
Ttn T C 2: 76,572,014 (GRCm39) E26293G probably damaging Het
Vmn1r29 A G 6: 58,284,871 (GRCm39) Y197C probably damaging Het
Wdfy3 A T 5: 102,032,080 (GRCm39) probably benign Het
Zfp366 A G 13: 99,365,804 (GRCm39) K322E probably 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
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
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'- GGTCACAGGCTCTAAGGACAATGC -3'
(R):5'- TCACAGCCCAATGTTAATGCCCAG -3'

Sequencing Primer
(F):5'- CTAAGGACAATGCCTGGTTGC -3'
(R):5'- TTAATGCCCAGAGAGCCTGTG -3'
Posted On 2014-03-14