Incidental Mutation 'R2237:Spata31e2'
ID 240423
Institutional Source Beutler Lab
Gene Symbol Spata31e2
Ensembl Gene ENSMUSG00000073722
Gene Name spermatogenesis associated 31 subfamily E member 2
Synonyms 4931408C20Rik
MMRRC Submission 040237-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2237 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 26720895-26726541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26724241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 313 (M313K)
Ref Sequence ENSEMBL: ENSMUSP00000095410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097801]
AlphaFold E9PWP9
Predicted Effect possibly damaging
Transcript: ENSMUST00000097801
AA Change: M313K

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: M313K

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,136,303 (GRCm39) E406G probably benign Het
Alox8 A C 11: 69,076,597 (GRCm39) S572A probably benign Het
Aoah G A 13: 20,978,481 (GRCm39) probably benign Het
Arhgap36 G T X: 48,582,282 (GRCm39) V60L possibly damaging Het
Arhgef37 T A 18: 61,637,477 (GRCm39) Y395F probably damaging Het
Bard1 G A 1: 71,114,135 (GRCm39) P282L probably damaging Het
Brd7 T A 8: 89,073,541 (GRCm39) E283V probably benign Het
Btbd9 T C 17: 30,553,302 (GRCm39) I387V probably benign Het
Cacna1a T C 8: 85,360,394 (GRCm39) probably null Het
Cacna1c T C 6: 118,629,704 (GRCm39) Q1205R possibly damaging Het
Camsap2 A T 1: 136,273,069 (GRCm39) L36Q probably damaging Het
Ccnj T C 19: 40,834,219 (GRCm39) F261L probably benign Het
Cd200r4 T A 16: 44,641,260 (GRCm39) M1K probably null Het
Cdca7l A G 12: 117,837,761 (GRCm39) E237G probably damaging Het
Cep128 T C 12: 91,314,341 (GRCm39) T146A probably benign Het
Clhc1 T G 11: 29,519,329 (GRCm39) S379A probably benign Het
Dbf4 T A 5: 8,458,542 (GRCm39) I158L possibly damaging Het
Deup1 A C 9: 15,486,597 (GRCm39) I455S probably damaging Het
Dlec1 T C 9: 118,967,259 (GRCm39) probably null Het
Eomes A G 9: 118,311,359 (GRCm39) D394G probably damaging Het
Epn1 A G 7: 5,100,601 (GRCm39) N518S probably damaging Het
Espl1 G A 15: 102,224,004 (GRCm39) R1185H probably damaging Het
Evc2 T C 5: 37,535,527 (GRCm39) S401P probably benign Het
Fbxw15 A G 9: 109,384,303 (GRCm39) S403P probably damaging Het
Hsd17b1 G A 11: 100,970,652 (GRCm39) V236M probably damaging Het
Htatsf1 G T X: 56,111,864 (GRCm39) D642Y unknown Het
Iqca1l A T 5: 24,753,292 (GRCm39) N453K probably benign Het
Itpripl2 T C 7: 118,089,294 (GRCm39) T422A probably benign Het
Izumo4 T C 10: 80,538,664 (GRCm39) S39P probably damaging Het
Kcnh5 T A 12: 75,054,493 (GRCm39) M484L probably benign Het
Kctd8 T A 5: 69,267,752 (GRCm39) I453F probably damaging Het
Kif5c A G 2: 49,584,020 (GRCm39) T152A probably benign Het
Kntc1 T C 5: 123,941,733 (GRCm39) V1809A possibly damaging Het
L3mbtl2 A T 15: 81,568,531 (GRCm39) T512S probably benign Het
Ltbp1 C A 17: 75,617,158 (GRCm39) D1032E probably benign Het
Mindy4 T C 6: 55,278,055 (GRCm39) F633S probably damaging Het
Muc5b T G 7: 141,415,826 (GRCm39) I2924S probably benign Het
Nfe2l2 G A 2: 75,506,898 (GRCm39) P401S probably benign Het
Nid1 T C 13: 13,675,070 (GRCm39) V930A probably benign Het
Nt5c1b C A 12: 10,425,558 (GRCm39) T309K probably damaging Het
Nt5m A G 11: 59,743,696 (GRCm39) K108R probably benign Het
Or10v5 T C 19: 11,805,814 (GRCm39) D192G probably damaging Het
Or13p3 A G 4: 118,567,192 (GRCm39) D196G probably damaging Het
Osbpl9 T A 4: 109,013,854 (GRCm39) Q80L probably damaging Het
Osm A G 11: 4,188,505 (GRCm39) N44S possibly damaging Het
Pclo C T 5: 14,763,952 (GRCm39) P4142S unknown Het
Pdlim2 T G 14: 70,408,698 (GRCm39) T173P probably benign Het
Pex1 T C 5: 3,668,915 (GRCm39) probably null Het
Phka2 A G X: 159,324,408 (GRCm39) E254G probably damaging Het
Pik3cb A G 9: 98,923,081 (GRCm39) Y984H probably damaging Het
Plscr2 T C 9: 92,172,877 (GRCm39) C179R probably damaging Het
Rbpms2 C A 9: 65,558,893 (GRCm39) Y183* probably null Het
Ryr2 T A 13: 11,677,146 (GRCm39) E3235V probably benign Het
Sesn3 T C 9: 14,219,761 (GRCm39) V50A probably benign Het
Siglecf T C 7: 43,004,409 (GRCm39) V246A probably benign Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spata4 A C 8: 55,055,664 (GRCm39) K185T probably benign Het
Spin2c A G X: 152,616,672 (GRCm39) I162V probably damaging Het
Stac G A 9: 111,519,190 (GRCm39) probably benign Het
Tas1r3 A T 4: 155,946,675 (GRCm39) M310K possibly damaging Het
Tenm3 G A 8: 48,795,372 (GRCm39) P585L probably damaging Het
Tnfsf11 A T 14: 78,537,421 (GRCm39) S81T possibly damaging Het
Topaz1 C T 9: 122,600,212 (GRCm39) T984I probably benign Het
Ttll2 G A 17: 7,619,522 (GRCm39) T135I probably benign Het
Ubr4 A G 4: 139,170,101 (GRCm39) S1584G probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r80 G A 10: 79,004,104 (GRCm39) E106K probably damaging Het
Xpc T C 6: 91,475,090 (GRCm39) H643R probably damaging Het
Zan G A 5: 137,456,099 (GRCm39) Q1354* probably null Het
Zpld2 A C 4: 133,929,516 (GRCm39) M263R unknown 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
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'- CTGGCTCAACTTGTAGCTTTTG -3'
(R):5'- GCACATCCTACTGCTGAGGTAG -3'

Sequencing Primer
(F):5'- TTGAGGATAGAGGGCTGGCC -3'
(R):5'- CTACTGCTGAGGTAGGGATACAGAC -3'
Posted On 2014-10-15