Incidental Mutation 'R6788:Spata31e4'
ID 532514
Institutional Source Beutler Lab
Gene Symbol Spata31e4
Ensembl Gene ENSMUSG00000094918
Gene Name spermatogenesis associated 31 subfamily E member 4
Synonyms Gm8765
MMRRC Submission 044902-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R6788 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 50852348-50857471 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 50857131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 923 (H923P)
Ref Sequence ENSEMBL: ENSMUSP00000097118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099518]
AlphaFold B7ZWJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000099518
AA Change: H923P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097118
Gene: ENSMUSG00000094918
AA Change: H923P

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: 99.8%
  • 10x: 98.9%
  • 20x: 97.4%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A T 1: 179,580,199 (GRCm39) V2001E probably benign Het
Ahsg A G 16: 22,713,585 (GRCm39) D122G probably benign Het
Ank3 A G 10: 69,840,553 (GRCm39) Y1616C probably damaging Het
Arhgef1 A G 7: 24,619,205 (GRCm39) probably null Het
Atp7b T C 8: 22,494,391 (GRCm39) I1023V probably benign Het
Bod1l A T 5: 41,979,216 (GRCm39) Y699* probably null Het
Car12 C T 9: 66,659,244 (GRCm39) S183L probably damaging Het
Cep290 T C 10: 100,324,490 (GRCm39) S57P probably damaging Het
Cep57l1 T C 10: 41,619,145 (GRCm39) D74G probably damaging Het
Cers6 T C 2: 68,938,903 (GRCm39) Y374H possibly damaging Het
Chmp4c T A 3: 10,432,195 (GRCm39) M35K possibly damaging Het
Crkl G A 16: 17,301,645 (GRCm39) D300N probably damaging Het
Cyp3a41a A G 5: 145,642,639 (GRCm39) M240T probably benign Het
Dipk2a C T 9: 94,406,502 (GRCm39) V302I probably benign Het
Dnah12 G T 14: 26,523,470 (GRCm39) L1986F probably damaging Het
Dnah8 T C 17: 30,867,439 (GRCm39) I297T probably benign Het
Dock10 T A 1: 80,508,962 (GRCm39) I1610F probably damaging Het
Dpys T A 15: 39,720,559 (GRCm39) H67L probably damaging Het
Epc2 T G 2: 49,422,099 (GRCm39) V331G probably benign Het
Fnbp1l G A 3: 122,339,956 (GRCm39) R344* probably null Het
Gmip G T 8: 70,263,824 (GRCm39) L89F possibly damaging Het
Gmip G C 8: 70,263,826 (GRCm39) R90P probably damaging Het
Gpi1 A G 7: 33,928,415 (GRCm39) S74P probably damaging Het
Gys1 G A 7: 45,094,102 (GRCm39) E406K probably damaging Het
Hspg2 G A 4: 137,242,618 (GRCm39) G611E probably damaging Het
Klhl29 C T 12: 5,134,393 (GRCm39) V673M probably damaging Het
Lnpk T C 2: 74,360,020 (GRCm39) T332A probably benign Het
Loxl4 T C 19: 42,596,792 (GRCm39) D60G probably damaging Het
Lrr1 T C 12: 69,221,449 (GRCm39) I197T probably damaging Het
Map1lc3b A G 8: 122,320,316 (GRCm39) N43S probably benign Het
Map3k21 A T 8: 126,666,605 (GRCm39) D599V probably benign Het
Mastl T C 2: 23,023,710 (GRCm39) N338D probably benign Het
Mepe A T 5: 104,486,074 (GRCm39) R405* probably null Het
Mrps30 T C 13: 118,516,908 (GRCm39) E437G probably benign Het
Mup15 A G 4: 61,356,465 (GRCm39) V100A possibly damaging Het
Olfml1 A T 7: 107,167,075 (GRCm39) I35F probably damaging Het
Olfml2a T A 2: 38,850,238 (GRCm39) Y651* probably null Het
Or2h1b T A 17: 37,462,713 (GRCm39) D50V probably damaging Het
Otog T C 7: 45,947,741 (GRCm39) V113A probably damaging Het
Parvg C T 15: 84,210,464 (GRCm39) L44F possibly damaging Het
Pcnx2 G T 8: 126,498,839 (GRCm39) D1553E probably damaging Het
Pcyt2 C T 11: 120,505,200 (GRCm39) G122S probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Polq C T 16: 36,897,510 (GRCm39) T2134I probably damaging Het
Prkce T G 17: 86,937,489 (GRCm39) F641V probably damaging Het
Prss1 T C 6: 41,440,654 (GRCm39) I243T possibly damaging Het
Pxmp2 A G 5: 110,429,185 (GRCm39) F91L probably benign Het
Ralgapb G A 2: 158,278,486 (GRCm39) G5R probably damaging Het
Rasgef1a T G 6: 118,064,174 (GRCm39) M337R possibly damaging Het
Rassf2 A G 2: 131,844,845 (GRCm39) M199T probably damaging Het
Rtbdn A T 8: 85,679,303 (GRCm39) Y67F probably null Het
Scamp3 T C 3: 89,089,256 (GRCm39) V271A probably benign Het
Sema3a A T 5: 13,647,584 (GRCm39) R613W possibly damaging Het
Slc4a3 A T 1: 75,527,959 (GRCm39) I206F probably damaging Het
Slc9b1 A G 3: 135,063,518 (GRCm39) probably null Het
Smchd1 C A 17: 71,782,096 (GRCm39) V22F probably benign Het
Smg1 A G 7: 117,783,794 (GRCm39) probably benign Het
Spaca7b T C 8: 11,728,584 (GRCm39) E29G possibly damaging Het
Stab1 A G 14: 30,861,117 (GRCm39) L89P probably damaging Het
Stim1 A G 7: 102,076,498 (GRCm39) E152G probably damaging Het
Tenm3 A G 8: 49,127,528 (GRCm39) F50S probably damaging Het
Tpgs2 T G 18: 25,262,927 (GRCm39) N231H probably benign Het
Trank1 T A 9: 111,219,747 (GRCm39) N2161K probably damaging Het
Trim28 A G 7: 12,759,273 (GRCm39) D129G probably benign Het
Trim66 A T 7: 109,076,961 (GRCm39) I326N probably damaging Het
Trim80 A T 11: 115,338,843 (GRCm39) T558S probably benign Het
Uggt1 T A 1: 36,269,769 (GRCm39) T83S probably benign Het
Wdr91 A G 6: 34,863,754 (GRCm39) I587T probably damaging Het
Zpld1 A T 16: 55,052,603 (GRCm39) V337D possibly 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
R6240:Spata31e4 UTSW 13 50,855,453 (GRCm39) missense probably damaging 0.97
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
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'- TGCACTGAAATCCCTTGTGG -3'
(R):5'- ATACCTAGAGTCAGAGGCTTGCTG -3'

Sequencing Primer
(F):5'- CCTTGTGGATGTTCTGTTCCAGATC -3'
(R):5'- ACAAGACCTGGCTCCTGCTTG -3'
Posted On 2018-08-29