Incidental Mutation 'R7123:Spata31d1e'
ID 552156
Institutional Source Beutler Lab
Gene Symbol Spata31d1e
Ensembl Gene ENSMUSG00000051054
Gene Name spermatogenesis associated 31 subfamily D, member 1E
Synonyms 1700014D04Rik
MMRRC Submission 045211-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R7123 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 59888656-59894566 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 59891254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 189 (Q189*)
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 null
Transcript: ENSMUST00000180139
AA Change: Q189*
SMART Domains Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: Q189*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,484,949 (GRCm39) I1521T probably damaging Het
Adgrv1 A T 13: 81,740,693 (GRCm39) I145N probably damaging Het
Ago3 C A 4: 126,248,798 (GRCm39) probably null Het
Agrn A T 4: 156,257,297 (GRCm39) W1178R probably benign Het
Akap3 A T 6: 126,843,267 (GRCm39) I629L probably benign Het
Aknad1 T G 3: 108,682,560 (GRCm39) Y545* probably null Het
Anapc1 C A 2: 128,454,930 (GRCm39) V1925F probably damaging Het
Barhl1 C T 2: 28,799,943 (GRCm39) probably null Het
Cfap157 T C 2: 32,669,413 (GRCm39) E294G probably damaging Het
Cfd G A 10: 79,728,331 (GRCm39) G231S probably damaging Het
Csf2ra A G 19: 61,215,300 (GRCm39) V105A probably damaging Het
Dhtkd1 A T 2: 5,922,591 (GRCm39) W523R probably damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnajc22 A C 15: 98,999,085 (GRCm39) Y90S possibly damaging Het
Ebna1bp2 A G 4: 118,482,772 (GRCm39) K254E probably damaging Het
Gfpt1 A T 6: 87,033,168 (GRCm39) D131V probably damaging Het
Gm5460 A G 14: 33,763,982 (GRCm39) I21V unknown Het
H2-T9 A G 17: 36,438,686 (GRCm39) I235T possibly damaging Het
Htr1d C T 4: 136,169,664 (GRCm39) probably benign Het
Kndc1 G A 7: 139,516,749 (GRCm39) E1570K probably damaging Het
Kntc1 T C 5: 123,919,789 (GRCm39) Y887H probably damaging Het
Kti12 T C 4: 108,705,679 (GRCm39) S198P probably benign Het
Mcmdc2 A T 1: 10,010,643 (GRCm39) I604F unknown Het
Mmp8 A T 9: 7,563,196 (GRCm39) D253V probably damaging Het
Muc4 T C 16: 32,569,509 (GRCm39) S252P possibly damaging Het
Myo5c A G 9: 75,196,505 (GRCm39) K1317R probably benign Het
Ncoa7 T C 10: 30,530,435 (GRCm39) I749V probably benign Het
Nfrkb A G 9: 31,325,311 (GRCm39) probably null Het
Obscn T C 11: 58,904,477 (GRCm39) T7166A probably benign Het
Obsl1 A G 1: 75,466,313 (GRCm39) S1472P probably damaging Het
Or14j7 T A 17: 38,234,567 (GRCm39) L37M probably benign Het
Or1e20-ps1 T A 11: 73,324,536 (GRCm39) D172V unknown Het
Orc1 A C 4: 108,445,884 (GRCm39) M1L probably damaging Het
Pkd1 T A 17: 24,813,742 (GRCm39) S4069T possibly damaging Het
Pus1 T C 5: 110,921,798 (GRCm39) *442W probably null Het
Rgma A C 7: 73,059,139 (GRCm39) D97A probably damaging Het
Ryr1 T C 7: 28,746,279 (GRCm39) K3834E probably benign Het
Sars2 T C 7: 28,452,866 (GRCm39) V475A probably benign Het
Scamp2 A T 9: 57,494,385 (GRCm39) T253S probably benign Het
Skint9 C T 4: 112,248,174 (GRCm39) W190* probably null Het
Sv2b C T 7: 74,767,450 (GRCm39) V649I possibly damaging Het
Synpo2 A G 3: 122,906,835 (GRCm39) V827A probably benign Het
Tiparp A T 3: 65,460,948 (GRCm39) I646F probably damaging Het
Topaz1 G A 9: 122,577,480 (GRCm39) G130D probably damaging Het
Trio TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC 15: 27,742,399 (GRCm39) probably benign Het
Ttll7 C T 3: 146,619,051 (GRCm39) P319S possibly damaging Het
Umodl1 T A 17: 31,201,318 (GRCm39) F416I possibly damaging Het
Vmn2r104 T C 17: 20,261,088 (GRCm39) D445G probably benign Het
Wnk2 A G 13: 49,235,462 (GRCm39) V651A possibly damaging Het
Zbtb21 C T 16: 97,751,112 (GRCm39) S1057N probably damaging Het
Zfp451 A T 1: 33,815,950 (GRCm39) C667S 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
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
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'- TCCAGGTTGTTCTGATGTTCAC -3'
(R):5'- AGTGCTGAGTCATGGTCTTCC -3'

Sequencing Primer
(F):5'- TTCACTGCTGAAATGAAAAAGGCC -3'
(R):5'- GTCTTCCAGCCCTTCCCCAG -3'
Posted On 2019-05-15