Incidental Mutation 'R6240:Spata31e4'
ID 505192
Institutional Source Beutler Lab
Gene Symbol Spata31e4
Ensembl Gene ENSMUSG00000094918
Gene Name spermatogenesis associated 31 subfamily E member 4
Synonyms Gm8765
MMRRC Submission 044364-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R6240 (G1)
Quality Score 81.0075
Status Not validated
Chromosome 13
Chromosomal Location 50852348-50857471 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 50855453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 364 (D364N)
Ref Sequence ENSEMBL: ENSMUSP00000097118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099518]
AlphaFold B7ZWJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000099518
AA Change: D364N

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097118
Gene: ENSMUSG00000094918
AA Change: D364N

DomainStartEndE-ValueType
low complexity region 69 82 N/A INTRINSIC
Pfam:FAM75 95 418 1.1e-15 PFAM
SCOP:d1i5pa1 811 874 9e-3 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C A 14: 64,223,701 (GRCm39) R25L probably damaging Het
Adamts1 G A 16: 85,599,045 (GRCm39) S185L probably benign Het
Adamts12 A T 15: 11,286,044 (GRCm39) D751V probably benign Het
Adgrg3 A G 8: 95,766,544 (GRCm39) D405G probably benign Het
Ahi1 A G 10: 20,852,980 (GRCm39) D516G probably damaging Het
Ahnak A T 19: 8,990,947 (GRCm39) D4077V probably damaging Het
Arhgef18 G A 8: 3,489,658 (GRCm39) R330Q probably damaging Het
Arid1a A G 4: 133,407,997 (GRCm39) V2170A unknown Het
Asxl3 C T 18: 22,598,565 (GRCm39) L227F probably damaging Het
B3glct A G 5: 149,650,253 (GRCm39) I119V probably benign Het
Brd10 A T 19: 29,694,640 (GRCm39) S1618T probably benign Het
Cad T A 5: 31,230,322 (GRCm39) M1512K probably benign Het
Cdc25a A G 9: 109,713,226 (GRCm39) T172A probably damaging Het
Cdh18 A G 15: 23,227,022 (GRCm39) D161G possibly damaging Het
Clmp A G 9: 40,693,707 (GRCm39) N308S probably damaging Het
Dlg5 A T 14: 24,199,596 (GRCm39) probably null Het
Dscam G A 16: 96,420,702 (GRCm39) T1728M probably damaging Het
E4f1 A G 17: 24,663,556 (GRCm39) S524P possibly damaging Het
Epha5 G C 5: 84,265,438 (GRCm39) A452G probably benign Het
Fzd3 T C 14: 65,447,304 (GRCm39) T542A probably damaging Het
Glyctk A T 9: 106,033,461 (GRCm39) probably null Het
Gm10382 G A 5: 125,466,660 (GRCm39) probably benign Het
Hnmt T A 2: 23,904,281 (GRCm39) M127L probably benign Het
Hoxc10 T A 15: 102,879,265 (GRCm39) W262R probably damaging Het
Icam5 T A 9: 20,944,454 (GRCm39) W52R possibly damaging Het
Jazf1 A T 6: 52,754,537 (GRCm39) C180S probably damaging Het
Kcnk2 A G 1: 188,975,179 (GRCm39) W286R probably damaging Het
Kcnmb2 C T 3: 32,236,045 (GRCm39) S98F probably damaging Het
Mob3a C G 10: 80,525,698 (GRCm39) E204D possibly damaging Het
Morc3 C G 16: 93,659,572 (GRCm39) H459D probably damaging Het
Mroh2b A T 15: 4,964,126 (GRCm39) N876I probably benign Het
Myo16 A T 8: 10,420,930 (GRCm39) T257S probably damaging Het
Nat1 A T 8: 67,944,354 (GRCm39) R243S possibly damaging Het
Nudt9 T C 5: 104,194,955 (GRCm39) V17A probably benign Het
Or13p8 A G 4: 118,583,668 (GRCm39) S75G probably benign Het
Or4c111 A G 2: 88,843,970 (GRCm39) I146T probably benign Het
Or4c11c A G 2: 88,661,707 (GRCm39) D82G probably benign Het
Or4m1 A G 14: 50,558,043 (GRCm39) V83A probably benign Het
Or6c70 C A 10: 129,710,546 (GRCm39) V27L probably benign Het
Pcdh7 T C 5: 57,878,704 (GRCm39) L753P probably damaging Het
Pcf11 T A 7: 92,295,710 (GRCm39) E1446D probably damaging Het
Pepd A G 7: 34,721,176 (GRCm39) I267V probably benign Het
Plk2 T A 13: 110,536,008 (GRCm39) Y571N probably damaging Het
Plk2 T A 13: 110,536,568 (GRCm39) V620E probably damaging Het
Prag1 T C 8: 36,570,506 (GRCm39) L363P probably benign Het
Psmd3 A G 11: 98,584,479 (GRCm39) T387A probably damaging Het
Ptgs1 G A 2: 36,127,297 (GRCm39) C61Y probably damaging Het
Rab18 T C 18: 6,784,635 (GRCm39) Y109H probably benign Het
Robo2 G A 16: 73,779,027 (GRCm39) P358L probably damaging Het
Smarcc2 C T 10: 128,323,893 (GRCm39) probably benign Het
Srgap1 A G 10: 121,883,061 (GRCm39) I13T probably benign Het
Tcf12 T A 9: 71,851,298 (GRCm39) K110* probably null Het
Tdrd1 T C 19: 56,829,767 (GRCm39) S214P probably benign Het
Tdrd3 T A 14: 87,743,322 (GRCm39) N417K probably damaging Het
Tmem255b A G 8: 13,504,216 (GRCm39) Y136C probably damaging Het
Tmem63c A T 12: 87,123,179 (GRCm39) I448F possibly damaging Het
Tnpo1 T C 13: 99,000,337 (GRCm39) I335M probably damaging Het
Vmn1r1 T C 1: 181,985,186 (GRCm39) T160A probably damaging Het
Vmn1r203 A G 13: 22,708,899 (GRCm39) N227D possibly damaging Het
Vmn2r6 T A 3: 64,464,226 (GRCm39) S203C probably damaging Het
Zfp628 A G 7: 4,922,848 (GRCm39) T357A possibly damaging Het
Zfp872 A G 9: 22,111,180 (GRCm39) K220E probably damaging Het
Other mutations in Spata31e4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Spata31e4 APN 13 50,854,414 (GRCm39) missense probably benign 0.18
IGL02452:Spata31e4 APN 13 50,857,113 (GRCm39) missense probably damaging 0.99
IGL02610:Spata31e4 APN 13 50,855,748 (GRCm39) missense possibly damaging 0.91
IGL03171:Spata31e4 APN 13 50,856,388 (GRCm39) missense probably benign 0.23
IGL03369:Spata31e4 APN 13 50,857,200 (GRCm39) missense possibly damaging 0.74
PIT4382001:Spata31e4 UTSW 13 50,855,007 (GRCm39) missense probably damaging 0.99
R0346:Spata31e4 UTSW 13 50,857,346 (GRCm39) missense probably benign 0.12
R1015:Spata31e4 UTSW 13 50,855,664 (GRCm39) missense possibly damaging 0.92
R1054:Spata31e4 UTSW 13 50,856,432 (GRCm39) missense probably benign 0.01
R1102:Spata31e4 UTSW 13 50,857,118 (GRCm39) missense probably benign 0.00
R1519:Spata31e4 UTSW 13 50,854,443 (GRCm39) critical splice donor site probably null
R1628:Spata31e4 UTSW 13 50,856,324 (GRCm39) missense probably benign 0.25
R1754:Spata31e4 UTSW 13 50,855,123 (GRCm39) missense probably damaging 0.98
R4212:Spata31e4 UTSW 13 50,854,388 (GRCm39) missense possibly damaging 0.94
R4672:Spata31e4 UTSW 13 50,857,208 (GRCm39) missense probably benign
R4780:Spata31e4 UTSW 13 50,855,116 (GRCm39) missense probably damaging 0.97
R4794:Spata31e4 UTSW 13 50,857,275 (GRCm39) missense probably benign 0.07
R5171:Spata31e4 UTSW 13 50,854,414 (GRCm39) missense possibly damaging 0.85
R6366:Spata31e4 UTSW 13 50,855,972 (GRCm39) missense probably benign 0.01
R6421:Spata31e4 UTSW 13 50,855,987 (GRCm39) missense probably benign 0.35
R6644:Spata31e4 UTSW 13 50,856,071 (GRCm39) missense possibly damaging 0.54
R6678:Spata31e4 UTSW 13 50,855,946 (GRCm39) missense probably benign 0.14
R6788:Spata31e4 UTSW 13 50,857,131 (GRCm39) missense probably damaging 0.99
R7030:Spata31e4 UTSW 13 50,857,019 (GRCm39) missense possibly damaging 0.52
R7513:Spata31e4 UTSW 13 50,856,909 (GRCm39) missense probably benign 0.01
R7681:Spata31e4 UTSW 13 50,856,290 (GRCm39) missense possibly damaging 0.70
R7753:Spata31e4 UTSW 13 50,855,817 (GRCm39) missense probably damaging 1.00
R7794:Spata31e4 UTSW 13 50,856,344 (GRCm39) missense probably damaging 0.98
R7994:Spata31e4 UTSW 13 50,856,900 (GRCm39) missense probably benign 0.04
R8021:Spata31e4 UTSW 13 50,855,130 (GRCm39) missense possibly damaging 0.50
R8858:Spata31e4 UTSW 13 50,855,423 (GRCm39) missense probably benign 0.07
R9027:Spata31e4 UTSW 13 50,857,007 (GRCm39) nonsense probably null
R9037:Spata31e4 UTSW 13 50,856,944 (GRCm39) missense probably benign 0.09
R9047:Spata31e4 UTSW 13 50,856,128 (GRCm39) nonsense probably null
R9065:Spata31e4 UTSW 13 50,856,276 (GRCm39) missense probably benign 0.01
R9476:Spata31e4 UTSW 13 50,856,149 (GRCm39) missense possibly damaging 0.70
R9495:Spata31e4 UTSW 13 50,855,465 (GRCm39) missense possibly damaging 0.82
R9510:Spata31e4 UTSW 13 50,856,149 (GRCm39) missense possibly damaging 0.70
Z1177:Spata31e4 UTSW 13 50,856,180 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGAACCCCATTCAGATTCCTC -3'
(R):5'- TGGACACTCTGTGAAATTTGATGC -3'

Sequencing Primer
(F):5'- ATTCAGATTCCTCCCCTACAGG -3'
(R):5'- AAATTTGATGCTGTCTTTGCCTCAG -3'
Posted On 2018-02-28