Incidental Mutation 'R2882:Spata31d1e'
ID 260361
Institutional Source Beutler Lab
Gene Symbol Spata31d1e
Ensembl Gene ENSMUSG00000051054
Gene Name spermatogenesis associated 31 subfamily D, member 1E
Synonyms 1700014D04Rik
MMRRC Submission 040470-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R2882 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 59888656-59894566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 59890757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 354 (Q354H)
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 benign
Transcript: ENSMUST00000178508
SMART Domains Protein: ENSMUSP00000136897
Gene: ENSMUSG00000051054

DomainStartEndE-ValueType
Pfam:FAM75 66 99 7.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180139
AA Change: Q354H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: Q354H

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: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp9a T C 2: 168,548,134 (GRCm39) Y7C probably damaging Het
Atxn3 C A 12: 101,903,670 (GRCm39) L178F probably damaging Het
Cep112 T C 11: 108,410,038 (GRCm39) S211P possibly damaging Het
Csl A G 10: 99,594,787 (GRCm39) F93L probably damaging Het
Cyp4f40 A G 17: 32,887,047 (GRCm39) I173V probably benign Het
Dcaf17 A G 2: 70,912,371 (GRCm39) I319V possibly damaging Het
Dock5 T C 14: 68,077,069 (GRCm39) Y258C probably damaging Het
Dpp10 T C 1: 123,372,932 (GRCm39) E236G probably damaging Het
Dpyd A G 3: 118,858,679 (GRCm39) D631G probably damaging Het
Ewsr1 C A 11: 5,028,523 (GRCm39) probably benign Het
Fat2 C A 11: 55,202,131 (GRCm39) L314F probably damaging Het
Gsdmc T C 15: 63,651,644 (GRCm39) I259V probably benign Het
Hydin C T 8: 111,293,555 (GRCm39) L3501F possibly damaging Het
Kdm2a A G 19: 4,381,212 (GRCm39) probably null Het
Klra1 A T 6: 130,354,826 (GRCm39) probably null Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Minar1 C T 9: 89,484,855 (GRCm39) V181I possibly damaging Het
Mlh3 A T 12: 85,314,340 (GRCm39) H615Q probably damaging Het
Mmp12 A G 9: 7,358,236 (GRCm39) Y374C probably damaging Het
Mpp2 T C 11: 101,955,459 (GRCm39) E97G probably benign Het
Oasl2 C T 5: 115,049,084 (GRCm39) R175C probably damaging Het
Or1j19 A T 2: 36,677,202 (GRCm39) I222F probably damaging Het
Pcdhac2 A T 18: 37,278,865 (GRCm39) Q615L probably damaging Het
Ppm1h T A 10: 122,777,239 (GRCm39) Y502N probably damaging Het
Slc5a11 GGTGC G 7: 122,838,595 (GRCm39) probably null Het
Tex15 T A 8: 34,064,935 (GRCm39) L1455* probably null Het
Tgm6 T C 2: 129,979,359 (GRCm39) V163A probably benign Het
Tlr5 C T 1: 182,801,458 (GRCm39) T240M probably damaging Het
Washc4 T C 10: 83,415,365 (GRCm39) I785T possibly 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
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
R5186:Spata31d1e UTSW 13 59,891,553 (GRCm39) missense probably damaging 1.00
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'- TCTCATGTGTCTTTGGTCCAAG -3'
(R):5'- TTCGAGCTGTGCAATAGGCC -3'

Sequencing Primer
(F):5'- CCAAGTTCTTCTTTGAGATGGTGAGC -3'
(R):5'- CAGTTCAATCCAACAGGAGTATCTTC -3'
Posted On 2015-01-23