Incidental Mutation 'R3942:Spata31d1d'
ID 312909
Institutional Source Beutler Lab
Gene Symbol Spata31d1d
Ensembl Gene ENSMUSG00000043986
Gene Name spermatogenesis associated 31 subfamily D, member 1D
Synonyms 4932411G14Rik, Fam75d1d
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3942 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 59873739-59879566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59875276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 753 (Q753R)
Ref Sequence ENSEMBL: ENSMUSP00000128200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052978]
AlphaFold E9Q5W2
Predicted Effect probably benign
Transcript: ENSMUST00000052978
AA Change: Q753R

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000128200
Gene: ENSMUSG00000043986
AA Change: Q753R

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:DUF4599 70 155 5.4e-28 PFAM
low complexity region 228 238 N/A INTRINSIC
low complexity region 284 298 N/A INTRINSIC
Pfam:FAM75 383 733 2.6e-93 PFAM
low complexity region 1017 1030 N/A INTRINSIC
low complexity region 1111 1129 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224724
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,330,908 (GRCm39) N6049S probably damaging Het
Aph1a C T 3: 95,801,573 (GRCm39) R31W probably damaging Het
Atp10b T C 11: 43,063,581 (GRCm39) V172A probably damaging Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Best3 T A 10: 116,824,579 (GRCm39) F15Y possibly damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Crb1 A C 1: 139,265,211 (GRCm39) L69R possibly damaging Het
Crcp T C 5: 130,063,791 (GRCm39) probably null Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Hps3 T C 3: 20,051,103 (GRCm39) Y859C probably damaging Het
Irx5 C A 8: 93,086,314 (GRCm39) N132K probably damaging Het
Itgb2 A G 10: 77,393,867 (GRCm39) T436A probably benign Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Krt12 A G 11: 99,312,922 (GRCm39) S41P unknown Het
Lypd6b G T 2: 49,833,552 (GRCm39) S64I probably damaging Het
Mpc1 T A 17: 8,507,420 (GRCm39) probably null Het
Or4c109 T A 2: 88,818,455 (GRCm39) L30F probably benign Het
Or5b95 A T 19: 12,657,768 (GRCm39) M99L probably benign Het
Pard3b T A 1: 62,198,611 (GRCm39) I233N probably damaging Het
Pcdh1 A G 18: 38,332,511 (GRCm39) V164A probably benign Het
Pclo A G 5: 14,729,932 (GRCm39) probably benign Het
Pkhd1l1 T C 15: 44,455,422 (GRCm39) probably null Het
Slco1a7 A G 6: 141,673,440 (GRCm39) I366T probably damaging Het
Stxbp6 A G 12: 44,949,641 (GRCm39) probably null Het
Trav6-5 T C 14: 53,728,838 (GRCm39) S32P probably benign Het
Zp3r A C 1: 130,504,791 (GRCm39) D470E possibly damaging Het
Other mutations in Spata31d1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Spata31d1d APN 13 59,878,029 (GRCm39) splice site probably benign
IGL02399:Spata31d1d APN 13 59,877,954 (GRCm39) splice site probably benign
IGL02531:Spata31d1d APN 13 59,875,748 (GRCm39) missense possibly damaging 0.86
IGL02687:Spata31d1d APN 13 59,875,678 (GRCm39) missense possibly damaging 0.71
IGL02815:Spata31d1d APN 13 59,874,678 (GRCm39) missense possibly damaging 0.72
IGL02893:Spata31d1d APN 13 59,873,793 (GRCm39) missense possibly damaging 0.72
IGL03037:Spata31d1d APN 13 59,873,947 (GRCm39) missense possibly damaging 0.86
IGL02796:Spata31d1d UTSW 13 59,876,057 (GRCm39) missense possibly damaging 0.93
R0612:Spata31d1d UTSW 13 59,875,787 (GRCm39) missense probably benign 0.06
R1345:Spata31d1d UTSW 13 59,873,838 (GRCm39) missense possibly damaging 0.72
R1572:Spata31d1d UTSW 13 59,876,005 (GRCm39) missense probably benign 0.01
R1736:Spata31d1d UTSW 13 59,874,311 (GRCm39) missense probably benign 0.02
R1750:Spata31d1d UTSW 13 59,876,509 (GRCm39) missense probably benign 0.33
R1894:Spata31d1d UTSW 13 59,875,936 (GRCm39) missense probably benign 0.09
R2202:Spata31d1d UTSW 13 59,879,435 (GRCm39) missense possibly damaging 0.82
R2203:Spata31d1d UTSW 13 59,879,435 (GRCm39) missense possibly damaging 0.82
R2204:Spata31d1d UTSW 13 59,879,435 (GRCm39) missense possibly damaging 0.82
R2913:Spata31d1d UTSW 13 59,874,769 (GRCm39) missense possibly damaging 0.72
R4513:Spata31d1d UTSW 13 59,876,368 (GRCm39) missense probably benign 0.32
R4824:Spata31d1d UTSW 13 59,877,055 (GRCm39) missense possibly damaging 0.86
R4959:Spata31d1d UTSW 13 59,875,102 (GRCm39) missense probably damaging 1.00
R4970:Spata31d1d UTSW 13 59,875,334 (GRCm39) missense probably benign 0.33
R5406:Spata31d1d UTSW 13 59,876,592 (GRCm39) missense probably benign 0.33
R5618:Spata31d1d UTSW 13 59,874,214 (GRCm39) missense probably benign 0.01
R5688:Spata31d1d UTSW 13 59,874,322 (GRCm39) missense probably damaging 0.98
R5741:Spata31d1d UTSW 13 59,876,500 (GRCm39) missense possibly damaging 0.86
R5867:Spata31d1d UTSW 13 59,875,054 (GRCm39) missense possibly damaging 0.53
R5930:Spata31d1d UTSW 13 59,874,829 (GRCm39) missense probably benign
R6263:Spata31d1d UTSW 13 59,873,797 (GRCm39) missense probably benign 0.18
R6267:Spata31d1d UTSW 13 59,876,278 (GRCm39) missense possibly damaging 0.93
R6296:Spata31d1d UTSW 13 59,876,278 (GRCm39) missense possibly damaging 0.93
R6597:Spata31d1d UTSW 13 59,873,871 (GRCm39) missense probably benign 0.01
R6985:Spata31d1d UTSW 13 59,879,429 (GRCm39) missense probably benign 0.00
R7032:Spata31d1d UTSW 13 59,876,046 (GRCm39) missense probably benign
R7174:Spata31d1d UTSW 13 59,876,394 (GRCm39) missense possibly damaging 0.72
R7322:Spata31d1d UTSW 13 59,874,790 (GRCm39) missense probably benign
R7444:Spata31d1d UTSW 13 59,875,007 (GRCm39) missense probably benign 0.33
R7946:Spata31d1d UTSW 13 59,878,606 (GRCm39) missense probably benign 0.02
R8206:Spata31d1d UTSW 13 59,879,344 (GRCm39) missense probably benign 0.03
R8912:Spata31d1d UTSW 13 59,875,136 (GRCm39) missense possibly damaging 0.53
R8995:Spata31d1d UTSW 13 59,874,421 (GRCm39) missense probably benign 0.33
R9215:Spata31d1d UTSW 13 59,875,823 (GRCm39) missense probably benign 0.32
R9800:Spata31d1d UTSW 13 59,874,637 (GRCm39) missense possibly damaging 0.53
Z1176:Spata31d1d UTSW 13 59,873,981 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- TGCTAGAACTTAGGCTCTTACCC -3'
(R):5'- CTCAGGCAGTCTGTCAGATC -3'

Sequencing Primer
(F):5'- AGAACTTAGGCTCTTACCCACTGG -3'
(R):5'- GGCAGTCTGTCAGATCAATCTTCAG -3'
Posted On 2015-04-30