Incidental Mutation 'R5186:Spata31d1e'
ID 397905
Institutional Source Beutler Lab
Gene Symbol Spata31d1e
Ensembl Gene ENSMUSG00000051054
Gene Name spermatogenesis associated 31 subfamily D, member 1E
Synonyms 1700014D04Rik
MMRRC Submission 042765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R5186 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 59888656-59894566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59891553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 89 (L89H)
Ref Sequence ENSEMBL: ENSMUSP00000136424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055343] [ENSMUST00000178508] [ENSMUST00000180139]
AlphaFold J3QMS2
Predicted Effect probably benign
Transcript: ENSMUST00000055343
SMART Domains Protein: ENSMUSP00000052403
Gene: ENSMUSG00000051054

DomainStartEndE-ValueType
low complexity region 204 215 N/A INTRINSIC
low complexity region 253 264 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000178508
AA Change: L89H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136897
Gene: ENSMUSG00000051054
AA Change: L89H

DomainStartEndE-ValueType
Pfam:FAM75 66 99 7.4e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180139
AA Change: L89H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: L89H

DomainStartEndE-ValueType
Pfam:FAM75 66 439 6.9e-97 PFAM
low complexity region 622 633 N/A INTRINSIC
low complexity region 671 693 N/A INTRINSIC
low complexity region 737 763 N/A INTRINSIC
low complexity region 824 835 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225577
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,982,425 (GRCm39) I6V probably null Het
Aox1 A G 1: 58,107,529 (GRCm39) D601G probably damaging Het
Asic1 GCACC GCACCACC 15: 99,596,684 (GRCm39) probably benign Het
Cacna1g T G 11: 94,333,674 (GRCm39) N931T probably damaging Het
Ccdc14 T C 16: 34,541,955 (GRCm39) F511L probably damaging Het
Cd177 T A 7: 24,444,348 (GRCm39) E710V probably benign Het
Cep112 T C 11: 108,643,386 (GRCm39) C49R probably benign Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Dnah2 T C 11: 69,326,710 (GRCm39) N3575S probably damaging Het
Dnah6 T A 6: 73,044,410 (GRCm39) I3234F probably damaging Het
Eci3 G T 13: 35,130,961 (GRCm39) A302E possibly damaging Het
Fam204a T C 19: 60,188,421 (GRCm39) K214E probably damaging Het
Fam78a T C 2: 31,972,666 (GRCm39) T85A possibly damaging Het
Flnb T C 14: 7,909,748 (GRCm38) Y1401H probably damaging Het
Foxl2 A T 9: 98,838,108 (GRCm39) D132V probably damaging Het
Frs2 C A 10: 116,914,747 (GRCm39) W57C probably damaging Het
Gm26558 G T 2: 70,491,761 (GRCm39) probably benign Het
Gpr139 A G 7: 118,744,063 (GRCm39) V174A probably benign Het
Grik5 T C 7: 24,715,244 (GRCm39) T676A probably damaging Het
H60c T C 10: 3,209,273 (GRCm39) probably null Het
Hspa1l A G 17: 35,197,445 (GRCm39) K495E probably damaging Het
Irgm1 C T 11: 48,757,044 (GRCm39) V256I probably benign Het
Kat7 T A 11: 95,177,242 (GRCm39) T293S probably benign Het
Lipg C T 18: 75,094,009 (GRCm39) V13I probably benign Het
Lrrn1 A T 6: 107,546,185 (GRCm39) Y661F probably damaging Het
Mllt3 A G 4: 87,759,232 (GRCm39) V272A probably benign Het
Mx1 G A 16: 97,256,694 (GRCm39) R162C probably benign Het
Myo18b T A 5: 113,019,336 (GRCm39) D647V probably damaging Het
Naf1 G A 8: 67,332,298 (GRCm39) V329I probably benign Het
Or4k40 A T 2: 111,251,119 (GRCm39) M59K probably damaging Het
Or52u1 A T 7: 104,237,418 (GRCm39) I153F probably damaging Het
Or8g22 A T 9: 38,958,265 (GRCm39) C194* probably null Het
P2rx5 G A 11: 73,062,616 (GRCm39) V442M possibly damaging Het
Pcdhb9 A G 18: 37,534,285 (GRCm39) E93G probably damaging Het
Pcdhga4 A T 18: 37,820,479 (GRCm39) N676I probably benign Het
Pgm5 A G 19: 24,797,492 (GRCm39) M230T probably damaging Het
Pik3c2g T C 6: 139,599,016 (GRCm39) V44A probably damaging Het
Pp2d1 T C 17: 53,815,168 (GRCm39) M519V probably benign Het
Ppp1r10 A G 17: 36,239,403 (GRCm39) E404G probably damaging Het
Prpf8 A T 11: 75,380,609 (GRCm39) E104V possibly damaging Het
Ptpra T C 2: 30,328,367 (GRCm39) probably null Het
Pygl A C 12: 70,248,118 (GRCm39) N248K probably damaging Het
Rbm8a A G 3: 96,538,248 (GRCm39) D102G probably damaging Het
Sema3d A G 5: 12,634,875 (GRCm39) D647G probably benign Het
Serpinb11 A T 1: 107,307,484 (GRCm39) D305V probably damaging Het
Slc12a8 T C 16: 33,437,578 (GRCm39) I337T probably damaging Het
Slc29a2 G A 19: 5,078,995 (GRCm39) R286Q probably benign Het
Slc2a3 T A 6: 122,712,542 (GRCm39) D234V probably damaging Het
Slco4a1 T C 2: 180,114,901 (GRCm39) V608A probably damaging Het
Srrm2 C T 17: 24,035,561 (GRCm39) T831I probably benign Het
St18 T A 1: 6,872,541 (GRCm39) probably null Het
Tesk2 G C 4: 116,599,093 (GRCm39) G67A probably damaging Het
Tlr1 A T 5: 65,082,564 (GRCm39) L671H probably damaging Het
Tmem63b A T 17: 45,972,403 (GRCm39) Y735N possibly damaging Het
Tmprss11a C T 5: 86,567,938 (GRCm39) C263Y probably damaging Het
Trio A T 15: 27,898,077 (GRCm39) V345E probably damaging Het
Tut7 A G 13: 59,964,470 (GRCm39) probably null Het
Ubr5 A G 15: 37,998,160 (GRCm39) S1674P probably damaging Het
Uchl3 T A 14: 101,933,353 (GRCm39) C209S probably damaging Het
Uhmk1 T C 1: 170,038,736 (GRCm39) N206S probably damaging Het
Uhrf1 C T 17: 56,625,340 (GRCm39) R588W probably damaging Het
Usp28 T C 9: 48,921,550 (GRCm39) V256A probably damaging Het
Utrn C A 10: 12,604,521 (GRCm39) L552F probably damaging Het
Vmn1r55 A T 7: 5,149,985 (GRCm39) M146K probably damaging Het
Vmn1r57 A C 7: 5,224,107 (GRCm39) I211L probably benign Het
Zar1 C T 5: 72,734,742 (GRCm39) C316Y probably damaging Het
Zc3h11a A T 1: 133,549,412 (GRCm39) S750T probably damaging Het
Zfp366 G A 13: 99,382,676 (GRCm39) C613Y probably benign Het
Zfp37 A T 4: 62,109,493 (GRCm39) C524S probably damaging Het
Zfp516 T C 18: 82,975,218 (GRCm39) V472A probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zic1 T C 9: 91,246,424 (GRCm39) Y216C probably damaging Het
Other mutations in Spata31d1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB010:Spata31d1e UTSW 13 59,891,565 (GRCm39) missense probably damaging 1.00
BB020:Spata31d1e UTSW 13 59,891,565 (GRCm39) missense probably damaging 1.00
R0838:Spata31d1e UTSW 13 59,890,282 (GRCm39) missense possibly damaging 0.75
R1483:Spata31d1e UTSW 13 59,890,717 (GRCm39) missense probably damaging 0.99
R1794:Spata31d1e UTSW 13 59,890,434 (GRCm39) missense probably benign 0.22
R1842:Spata31d1e UTSW 13 59,890,320 (GRCm39) missense probably damaging 1.00
R1969:Spata31d1e UTSW 13 59,890,599 (GRCm39) missense probably damaging 0.98
R2027:Spata31d1e UTSW 13 59,890,401 (GRCm39) missense possibly damaging 0.48
R2206:Spata31d1e UTSW 13 59,890,920 (GRCm39) missense probably benign 0.40
R2207:Spata31d1e UTSW 13 59,890,920 (GRCm39) missense probably benign 0.40
R2882:Spata31d1e UTSW 13 59,890,757 (GRCm39) missense probably benign 0.00
R3508:Spata31d1e UTSW 13 59,890,319 (GRCm39) nonsense probably null
R4447:Spata31d1e UTSW 13 59,890,012 (GRCm39) missense probably benign 0.03
R4560:Spata31d1e UTSW 13 59,889,571 (GRCm39) missense probably damaging 1.00
R4846:Spata31d1e UTSW 13 59,890,047 (GRCm39) missense probably benign 0.00
R5510:Spata31d1e UTSW 13 59,890,234 (GRCm39) splice site probably null
R5580:Spata31d1e UTSW 13 59,890,070 (GRCm39) missense probably benign 0.00
R5752:Spata31d1e UTSW 13 59,891,016 (GRCm39) missense probably damaging 0.96
R6266:Spata31d1e UTSW 13 59,890,126 (GRCm39) missense probably benign 0.33
R6267:Spata31d1e UTSW 13 59,890,497 (GRCm39) missense probably benign 0.13
R6296:Spata31d1e UTSW 13 59,890,497 (GRCm39) missense probably benign 0.13
R6939:Spata31d1e UTSW 13 59,889,872 (GRCm39) missense possibly damaging 0.75
R6973:Spata31d1e UTSW 13 59,890,521 (GRCm39) missense probably benign 0.14
R7107:Spata31d1e UTSW 13 59,889,997 (GRCm39) nonsense probably null
R7123:Spata31d1e UTSW 13 59,891,254 (GRCm39) nonsense probably null
R7254:Spata31d1e UTSW 13 59,889,790 (GRCm39) missense probably benign 0.01
R7354:Spata31d1e UTSW 13 59,889,648 (GRCm39) nonsense probably null
R7536:Spata31d1e UTSW 13 59,889,556 (GRCm39) missense probably damaging 0.99
R7729:Spata31d1e UTSW 13 59,889,437 (GRCm39) missense not run
R7912:Spata31d1e UTSW 13 59,890,329 (GRCm39) missense probably damaging 1.00
R7933:Spata31d1e UTSW 13 59,891,565 (GRCm39) missense probably damaging 1.00
R8029:Spata31d1e UTSW 13 59,890,191 (GRCm39) missense possibly damaging 0.79
R8347:Spata31d1e UTSW 13 59,890,050 (GRCm39) missense possibly damaging 0.63
R8370:Spata31d1e UTSW 13 59,891,766 (GRCm39) missense probably benign
R8395:Spata31d1e UTSW 13 59,889,540 (GRCm39) missense probably benign 0.00
R8508:Spata31d1e UTSW 13 59,891,412 (GRCm39) missense probably benign 0.02
R8930:Spata31d1e UTSW 13 59,890,015 (GRCm39) missense possibly damaging 0.76
R8932:Spata31d1e UTSW 13 59,890,015 (GRCm39) missense possibly damaging 0.76
R9127:Spata31d1e UTSW 13 59,890,828 (GRCm39) missense probably benign 0.00
R9262:Spata31d1e UTSW 13 59,890,402 (GRCm39) missense probably benign 0.00
R9401:Spata31d1e UTSW 13 59,890,012 (GRCm39) missense probably benign 0.03
R9514:Spata31d1e UTSW 13 59,890,806 (GRCm39) missense probably damaging 0.96
R9786:Spata31d1e UTSW 13 59,890,498 (GRCm39) missense possibly damaging 0.84
X0024:Spata31d1e UTSW 13 59,890,539 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGAGCTACCTTAGGCAAAG -3'
(R):5'- TCTCCAGATCCCAAGAGGTCAG -3'

Sequencing Primer
(F):5'- CTTAGGCAAAGGTTGAGGATGGAC -3'
(R):5'- TCCCAAGAGGTCAGAAGGC -3'
Posted On 2016-07-06