Incidental Mutation 'R1781:Spata31d1c'
ID 195320
Institutional Source Beutler Lab
Gene Symbol Spata31d1c
Ensembl Gene ENSMUSG00000074849
Gene Name spermatogenesis associated 31 subfamily D, member 1C
Synonyms 4932441B19Rik, Fam75d1c
MMRRC Submission 039812-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1781 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 65180872-65185816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65183985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 509 (I509T)
Ref Sequence ENSEMBL: ENSMUSP00000097024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099427]
AlphaFold E9QAF1
Predicted Effect probably benign
Transcript: ENSMUST00000099427
AA Change: I509T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: I509T

DomainStartEndE-ValueType
transmembrane domain 22 44 N/A INTRINSIC
Pfam:DUF4599 63 148 2.4e-31 PFAM
low complexity region 178 190 N/A INTRINSIC
low complexity region 196 213 N/A INTRINSIC
low complexity region 218 233 N/A INTRINSIC
low complexity region 237 251 N/A INTRINSIC
Pfam:FAM75 380 742 1.4e-120 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.6%
  • 20x: 90.1%
Validation Efficiency 97% (88/91)
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 59,932,117 (GRCm39) K211E probably damaging Het
Abca13 T A 11: 9,219,194 (GRCm39) L376Q probably damaging Het
Abca17 T C 17: 24,486,531 (GRCm39) T1499A possibly damaging Het
Anks6 A C 4: 47,043,639 (GRCm39) N363K possibly damaging Het
Apob T A 12: 8,059,603 (GRCm39) I2695N possibly damaging Het
Arhgef18 C T 8: 3,430,495 (GRCm39) R123W probably damaging Het
Atg14 T A 14: 47,786,607 (GRCm39) probably null Het
Atg2a A T 19: 6,306,243 (GRCm39) I1368F probably damaging Het
Btbd9 A G 17: 30,732,567 (GRCm39) S373P probably damaging Het
Ccdc83 T C 7: 89,899,749 (GRCm39) E41G probably damaging Het
Ccnh T C 13: 85,354,254 (GRCm39) S233P possibly damaging Het
Cdh8 T C 8: 99,917,094 (GRCm39) probably null Het
Cdh8 A T 8: 100,006,290 (GRCm39) I99N probably damaging Het
Cdr2 G A 7: 120,557,268 (GRCm39) P419L probably benign Het
Cds1 T A 5: 101,960,416 (GRCm39) I289K possibly damaging Het
Cherp G A 8: 73,221,615 (GRCm39) T394I probably damaging Het
Cyp4f17 T G 17: 32,742,993 (GRCm39) I222S possibly damaging Het
Dcc A G 18: 71,511,788 (GRCm39) S856P probably benign Het
Dcp1a C T 14: 30,235,032 (GRCm39) T221I probably benign Het
Ddx10 A G 9: 53,118,845 (GRCm39) S475P probably damaging Het
Dennd5b G T 6: 148,928,896 (GRCm39) A759E probably damaging Het
Disp2 G A 2: 118,623,042 (GRCm39) G1258D probably damaging Het
Fhdc1 A T 3: 84,356,111 (GRCm39) D444E probably damaging Het
Fhod1 T C 8: 106,074,421 (GRCm39) probably benign Het
Gcnt7 T C 2: 172,296,800 (GRCm39) K8R probably benign Het
Gk5 C T 9: 96,015,508 (GRCm39) T108I possibly damaging Het
Gm8214 C A 1: 183,414,129 (GRCm39) noncoding transcript Het
Gnl1 A T 17: 36,298,638 (GRCm39) I434F probably damaging Het
Golga2 T C 2: 32,196,588 (GRCm39) Y986H probably damaging Het
Gpr21 T C 2: 37,407,550 (GRCm39) V32A probably benign Het
Grb14 A T 2: 64,805,899 (GRCm39) probably null Het
H6pd A T 4: 150,080,388 (GRCm39) F144L probably damaging Het
Hunk A G 16: 90,229,448 (GRCm39) Y27C probably damaging Het
Ints7 C T 1: 191,328,396 (GRCm39) T223M possibly damaging Het
Kcnmb2 T C 3: 32,233,152 (GRCm39) probably null Het
Lilra6 A T 7: 3,918,066 (GRCm39) L26H probably benign Het
Mc4r A T 18: 66,992,918 (GRCm39) V65E probably damaging Het
Mgam G A 6: 40,646,797 (GRCm39) G708R probably damaging Het
Mllt6 A G 11: 97,563,395 (GRCm39) D326G probably benign Het
Myo7a A T 7: 97,722,331 (GRCm39) V1198D probably damaging Het
Nampt T C 12: 32,883,037 (GRCm39) V74A probably damaging Het
Nlrp4b G C 7: 10,449,266 (GRCm39) V123L probably benign Het
Ntpcr T A 8: 126,472,141 (GRCm39) L150Q probably damaging Het
Obscn C T 11: 58,997,163 (GRCm39) E1513K probably damaging Het
Ola1 T C 2: 72,987,099 (GRCm39) K178E possibly damaging Het
Opalin T C 19: 41,056,070 (GRCm39) probably null Het
Or10g6 A G 9: 39,934,541 (GRCm39) N284S probably damaging Het
Or13a20 A T 7: 140,232,419 (GRCm39) I176F probably damaging Het
Or2ad1 C T 13: 21,326,934 (GRCm39) V98I probably benign Het
Or2w2 C T 13: 21,757,711 (GRCm39) G305D probably damaging Het
Or3a10 A T 11: 73,935,786 (GRCm39) F105I probably damaging Het
Or51ah3 C T 7: 103,209,773 (GRCm39) P30S probably benign Het
Or52ae9 T C 7: 103,390,028 (GRCm39) M140V probably benign Het
Or52e15 A T 7: 104,645,315 (GRCm39) F265L possibly damaging Het
Or5p62 A G 7: 107,771,090 (GRCm39) V287A probably benign Het
Or7a35 T C 10: 78,853,159 (GRCm39) M1T probably null Het
P2ry12 A G 3: 59,125,199 (GRCm39) F159L probably benign Het
Paqr7 T C 4: 134,234,592 (GRCm39) probably null Het
Parp1 T C 1: 180,415,578 (GRCm39) S466P probably benign Het
Parp4 T A 14: 56,864,838 (GRCm39) probably null Het
Pcdh1 T C 18: 38,322,977 (GRCm39) D952G probably damaging Het
Pde6c T C 19: 38,140,146 (GRCm39) S336P possibly damaging Het
Pgk2 T C 17: 40,519,398 (GRCm39) D10G probably benign Het
Phf20l1 A G 15: 66,504,674 (GRCm39) T771A probably damaging Het
Pkdrej A G 15: 85,705,372 (GRCm39) V188A possibly damaging Het
Plekhm1 A G 11: 103,285,682 (GRCm39) L251P probably damaging Het
Prex2 A T 1: 11,270,179 (GRCm39) N1288I probably benign Het
Sarnp T C 10: 128,669,191 (GRCm39) L16P probably damaging Het
Scgb3a2 T C 18: 43,900,033 (GRCm39) probably benign Het
Scn11a A T 9: 119,584,148 (GRCm39) I1489N probably damaging Het
Scn3a A T 2: 65,302,729 (GRCm39) L1239Q probably damaging Het
Shisa9 T C 16: 12,085,521 (GRCm39) S377P probably benign Het
Slc22a30 T A 19: 8,313,136 (GRCm39) T550S probably damaging Het
Slc25a11 T C 11: 70,535,651 (GRCm39) T296A probably benign Het
Slc35f1 T A 10: 52,938,532 (GRCm39) probably null Het
Slc6a13 A G 6: 121,311,811 (GRCm39) E396G probably damaging Het
Srsf9 C A 5: 115,465,481 (GRCm39) Y9* probably null Het
Tasor2 T C 13: 3,634,759 (GRCm39) T683A possibly damaging Het
Tbx20 T C 9: 24,636,795 (GRCm39) I431V probably benign Het
Tespa1 G A 10: 130,184,119 (GRCm39) G67S probably benign Het
Trhde A T 10: 114,424,405 (GRCm39) V460E possibly damaging Het
Trip12 A T 1: 84,708,342 (GRCm39) F1739I probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Umodl1 G A 17: 31,187,524 (GRCm39) R196H probably damaging Het
Vezf1 G T 11: 87,972,447 (GRCm39) M269I probably benign Het
Vmn1r35 A T 6: 66,656,550 (GRCm39) M40K probably benign Het
Vmn1r9 G T 6: 57,048,300 (GRCm39) C125F probably benign Het
Vmn2r12 C A 5: 109,239,594 (GRCm39) G323V probably benign Het
Vmn2r79 A T 7: 86,651,555 (GRCm39) H318L probably benign Het
Zfhx3 T A 8: 109,520,167 (GRCm39) S430T probably benign Het
Other mutations in Spata31d1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01639:Spata31d1c APN 13 65,183,903 (GRCm39) missense probably damaging 1.00
IGL02830:Spata31d1c APN 13 65,183,180 (GRCm39) missense probably benign 0.25
IGL02947:Spata31d1c APN 13 65,182,759 (GRCm39) nonsense probably null
IGL03133:Spata31d1c APN 13 65,182,799 (GRCm39) missense probably benign 0.18
IGL03176:Spata31d1c APN 13 65,184,825 (GRCm39) missense probably benign 0.01
IGL03183:Spata31d1c APN 13 65,183,009 (GRCm39) missense possibly damaging 0.86
IGL03206:Spata31d1c APN 13 65,183,407 (GRCm39) missense probably benign 0.41
PIT4382001:Spata31d1c UTSW 13 65,183,985 (GRCm39) missense probably benign 0.01
R0054:Spata31d1c UTSW 13 65,180,876 (GRCm39) start gained probably benign
R0959:Spata31d1c UTSW 13 65,184,129 (GRCm39) missense probably damaging 1.00
R1232:Spata31d1c UTSW 13 65,184,428 (GRCm39) missense probably benign
R1347:Spata31d1c UTSW 13 65,183,202 (GRCm39) missense probably benign 0.00
R1347:Spata31d1c UTSW 13 65,183,202 (GRCm39) missense probably benign 0.00
R1381:Spata31d1c UTSW 13 65,184,368 (GRCm39) missense probably benign 0.08
R1573:Spata31d1c UTSW 13 65,182,883 (GRCm39) missense possibly damaging 0.92
R1582:Spata31d1c UTSW 13 65,181,038 (GRCm39) missense probably benign
R1639:Spata31d1c UTSW 13 65,183,853 (GRCm39) missense probably benign
R1716:Spata31d1c UTSW 13 65,181,030 (GRCm39) missense possibly damaging 0.86
R1907:Spata31d1c UTSW 13 65,183,690 (GRCm39) missense probably benign 0.03
R2012:Spata31d1c UTSW 13 65,183,041 (GRCm39) missense possibly damaging 0.91
R2152:Spata31d1c UTSW 13 65,181,779 (GRCm39) critical splice donor site probably null
R2211:Spata31d1c UTSW 13 65,183,753 (GRCm39) missense probably benign 0.04
R2571:Spata31d1c UTSW 13 65,184,198 (GRCm39) missense probably damaging 1.00
R2908:Spata31d1c UTSW 13 65,181,005 (GRCm39) missense possibly damaging 0.63
R3978:Spata31d1c UTSW 13 65,182,974 (GRCm39) missense possibly damaging 0.61
R3979:Spata31d1c UTSW 13 65,182,974 (GRCm39) missense possibly damaging 0.61
R3980:Spata31d1c UTSW 13 65,182,974 (GRCm39) missense possibly damaging 0.61
R3981:Spata31d1c UTSW 13 65,182,925 (GRCm39) missense possibly damaging 0.68
R4014:Spata31d1c UTSW 13 65,183,213 (GRCm39) missense probably damaging 0.99
R4255:Spata31d1c UTSW 13 65,183,531 (GRCm39) missense probably benign 0.04
R4255:Spata31d1c UTSW 13 65,183,502 (GRCm39) nonsense probably null
R4592:Spata31d1c UTSW 13 65,183,874 (GRCm39) missense probably damaging 0.99
R4597:Spata31d1c UTSW 13 65,183,427 (GRCm39) nonsense probably null
R4624:Spata31d1c UTSW 13 65,184,411 (GRCm39) missense probably benign
R4641:Spata31d1c UTSW 13 65,182,862 (GRCm39) missense probably benign 0.01
R4863:Spata31d1c UTSW 13 65,183,604 (GRCm39) nonsense probably null
R5084:Spata31d1c UTSW 13 65,182,944 (GRCm39) missense probably damaging 0.98
R5152:Spata31d1c UTSW 13 65,183,409 (GRCm39) missense probably damaging 1.00
R5230:Spata31d1c UTSW 13 65,183,248 (GRCm39) missense probably benign 0.41
R5267:Spata31d1c UTSW 13 65,183,718 (GRCm39) missense probably damaging 0.98
R5615:Spata31d1c UTSW 13 65,183,078 (GRCm39) missense possibly damaging 0.61
R5755:Spata31d1c UTSW 13 65,184,341 (GRCm39) missense probably benign 0.12
R5935:Spata31d1c UTSW 13 65,184,894 (GRCm39) missense possibly damaging 0.68
R6017:Spata31d1c UTSW 13 65,182,893 (GRCm39) missense possibly damaging 0.91
R6131:Spata31d1c UTSW 13 65,183,485 (GRCm39) missense probably benign 0.10
R6359:Spata31d1c UTSW 13 65,183,406 (GRCm39) missense possibly damaging 0.63
R6723:Spata31d1c UTSW 13 65,183,758 (GRCm39) missense probably benign 0.01
R7028:Spata31d1c UTSW 13 65,183,877 (GRCm39) missense probably damaging 0.98
R7336:Spata31d1c UTSW 13 65,183,942 (GRCm39) missense probably damaging 0.99
R7426:Spata31d1c UTSW 13 65,183,175 (GRCm39) missense probably benign
R7552:Spata31d1c UTSW 13 65,183,937 (GRCm39) missense probably damaging 0.98
R7605:Spata31d1c UTSW 13 65,183,654 (GRCm39) missense probably benign 0.00
R7666:Spata31d1c UTSW 13 65,183,814 (GRCm39) missense probably benign 0.01
R8403:Spata31d1c UTSW 13 65,184,044 (GRCm39) missense probably benign 0.42
R8445:Spata31d1c UTSW 13 65,180,991 (GRCm39) missense probably damaging 0.98
R8513:Spata31d1c UTSW 13 65,180,991 (GRCm39) missense probably damaging 0.98
R8515:Spata31d1c UTSW 13 65,180,991 (GRCm39) missense probably damaging 0.98
R8523:Spata31d1c UTSW 13 65,180,991 (GRCm39) missense probably damaging 0.98
R8799:Spata31d1c UTSW 13 65,184,140 (GRCm39) missense possibly damaging 0.92
R8817:Spata31d1c UTSW 13 65,182,376 (GRCm39) missense probably damaging 0.98
R8854:Spata31d1c UTSW 13 65,183,804 (GRCm39) missense possibly damaging 0.82
R8917:Spata31d1c UTSW 13 65,183,429 (GRCm39) missense probably benign 0.02
R9084:Spata31d1c UTSW 13 65,182,959 (GRCm39) missense probably benign
R9197:Spata31d1c UTSW 13 65,183,690 (GRCm39) missense probably benign 0.01
R9201:Spata31d1c UTSW 13 65,184,773 (GRCm39) missense possibly damaging 0.48
R9261:Spata31d1c UTSW 13 65,184,680 (GRCm39) missense probably damaging 0.99
R9516:Spata31d1c UTSW 13 65,184,040 (GRCm39) missense probably damaging 1.00
X0022:Spata31d1c UTSW 13 65,184,741 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- CAAAGTCTGTCCCAATCTCAGTCCC -3'
(R):5'- AGCGTTGTAGGATGAGCCTCTTTCG -3'

Sequencing Primer
(F):5'- AGTCCCAACCTGTCTCTCAAG -3'
(R):5'- CGAAGGTGGTGCTCAAATTTC -3'
Posted On 2014-05-23