Incidental Mutation 'R2152:Spata31d1c'
ID 234431
Institutional Source Beutler Lab
Gene Symbol Spata31d1c
Ensembl Gene ENSMUSG00000074849
Gene Name spermatogenesis associated 31 subfamily D, member 1C
Synonyms 4932441B19Rik, Fam75d1c
MMRRC Submission 040155-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2152 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 65180872-65185816 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 65181779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099427]
AlphaFold E9QAF1
Predicted Effect probably null
Transcript: ENSMUST00000099427
SMART Domains Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 A T 1: 90,141,565 (GRCm39) Y8F probably benign Het
Acy1 T C 9: 106,312,816 (GRCm39) E175G probably damaging Het
Add2 T C 6: 86,075,580 (GRCm39) L243P probably damaging Het
Adsl A G 15: 80,851,863 (GRCm39) D407G probably damaging Het
Afg3l1 T G 8: 124,221,575 (GRCm39) I478S probably damaging Het
Aoc1l1 T A 6: 48,953,473 (GRCm39) I466N probably damaging Het
Arfrp1 T C 2: 181,001,487 (GRCm39) T108A probably benign Het
Art5 A G 7: 101,747,407 (GRCm39) L124P possibly damaging Het
Asap2 A T 12: 21,162,084 (GRCm39) T14S probably damaging Het
Atp2c2 A G 8: 120,482,841 (GRCm39) N901S probably benign Het
Bbs12 G T 3: 37,375,309 (GRCm39) E586* probably null Het
Bicd2 G T 13: 49,533,052 (GRCm39) C546F probably damaging Het
Bid A T 6: 120,877,215 (GRCm39) L42Q probably damaging Het
Bpifb9a A G 2: 154,102,055 (GRCm39) K51E probably benign Het
Calcr G T 6: 3,687,615 (GRCm39) T424K probably benign Het
Cd46 A G 1: 194,744,721 (GRCm39) I339T probably benign Het
Chek1 C A 9: 36,635,279 (GRCm39) V35F probably damaging Het
Cntn3 A G 6: 102,183,498 (GRCm39) I719T probably damaging Het
Cyb5r1 T C 1: 134,337,363 (GRCm39) I163T possibly damaging Het
Cyp2d26 A T 15: 82,676,907 (GRCm39) probably null Het
Dclk1 A G 3: 55,154,633 (GRCm39) Y21C probably damaging Het
Dgcr2 G A 16: 17,709,351 (GRCm39) probably null Het
Dhx38 T C 8: 110,287,306 (GRCm39) S221G probably benign Het
Dis3l T A 9: 64,214,545 (GRCm39) N981I probably benign Het
Dnah3 C T 7: 119,551,236 (GRCm39) V3028I probably benign Het
Dnah6 T C 6: 73,026,149 (GRCm39) Y3448C probably benign Het
Dok5 G A 2: 170,642,816 (GRCm39) G38D probably damaging Het
Epb41l1 A G 2: 156,356,048 (GRCm39) D528G probably damaging Het
Fat4 A T 3: 39,037,544 (GRCm39) Y3732F probably damaging Het
Fcsk T A 8: 111,615,704 (GRCm39) T542S probably benign Het
Fgfr4 A T 13: 55,314,777 (GRCm39) Y640F probably damaging Het
Foxo6 T A 4: 120,125,811 (GRCm39) D328V probably benign Het
Foxp1 A G 6: 98,993,502 (GRCm39) L134P probably damaging Het
Frem2 G A 3: 53,424,450 (GRCm39) R2996* probably null Het
Garem2 T C 5: 30,313,297 (GRCm39) S54P probably damaging Het
Gcn1 T A 5: 115,747,888 (GRCm39) I1765N probably benign Het
Gm4787 T A 12: 81,423,993 (GRCm39) I722F probably benign Het
Gpc6 G T 14: 117,163,504 (GRCm39) A53S probably benign Het
Gtpbp8 A G 16: 44,560,390 (GRCm39) probably null Het
H2-Q2 T C 17: 35,564,252 (GRCm39) probably null Het
Hapln2 C A 3: 87,930,920 (GRCm39) R157L probably benign Het
Hemgn C A 4: 46,396,607 (GRCm39) E210* probably null Het
Hpse T A 5: 100,839,269 (GRCm39) K360* probably null Het
Iqcj A T 3: 67,962,643 (GRCm39) E68V probably damaging Het
Kat2a T C 11: 100,603,172 (GRCm39) probably benign Het
Kat6b A T 14: 21,718,735 (GRCm39) H1138L probably benign Het
Kcnab1 A T 3: 65,278,861 (GRCm39) I371F probably damaging Het
Klhl30 C A 1: 91,285,546 (GRCm39) A356D probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Micu1 G T 10: 59,699,110 (GRCm39) M468I probably benign Het
Mrc1 A G 2: 14,332,675 (GRCm39) T1292A probably damaging Het
Myh8 G A 11: 67,185,295 (GRCm39) E849K probably damaging Het
Myom3 G T 4: 135,530,544 (GRCm39) R1152L probably benign Het
Nedd4l T A 18: 65,343,401 (GRCm39) H820Q probably damaging Het
Nlrp4g T A 9: 124,353,339 (GRCm38) noncoding transcript Het
Oga A T 19: 45,746,461 (GRCm39) Y779* probably null Het
Or13p5 C T 4: 118,592,446 (GRCm39) A240V possibly damaging Het
Or1m1 T C 9: 18,666,391 (GRCm39) D180G probably damaging Het
Or2a51 A G 6: 43,179,003 (GRCm39) I142V probably benign Het
Or51a39 G T 7: 102,362,788 (GRCm39) H277Q probably benign Het
Or52j3 A T 7: 102,835,847 (GRCm39) D13V probably benign Het
Or8b49 G T 9: 38,505,707 (GRCm39) L63F probably damaging Het
Or8g54 A T 9: 39,706,943 (GRCm39) I91F probably benign Het
Or9s23 T C 1: 92,501,630 (GRCm39) S246P probably damaging Het
Otop1 T A 5: 38,460,194 (GRCm39) M587K probably damaging Het
Pgm5 T A 19: 24,812,179 (GRCm39) I118F probably damaging Het
Phc2 A G 4: 128,638,859 (GRCm39) *41W probably null Het
Phf8-ps T A 17: 33,285,908 (GRCm39) D298V probably damaging Het
Piezo2 A T 18: 63,247,112 (GRCm39) M532K probably damaging Het
Pjvk A T 2: 76,488,713 (GRCm39) I295F probably benign Het
Popdc2 A G 16: 38,183,482 (GRCm39) N155S possibly damaging Het
Ppp4r3a G T 12: 101,008,826 (GRCm39) N684K probably damaging Het
Prpf4b T A 13: 35,084,402 (GRCm39) M930K probably benign Het
Ptpn12 C A 5: 21,207,466 (GRCm39) Q297H probably damaging Het
Ptprz1 C A 6: 23,030,670 (GRCm39) L1010I probably damaging Het
Rabepk A T 2: 34,674,562 (GRCm39) D232E possibly damaging Het
Rad51ap2 A G 12: 11,507,986 (GRCm39) H636R probably benign Het
Rb1 T C 14: 73,526,165 (GRCm39) T169A probably benign Het
Rcc2 T C 4: 140,444,428 (GRCm39) L373P probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rrbp1 A G 2: 143,796,118 (GRCm39) L1200P possibly damaging Het
Sdk1 A G 5: 141,778,699 (GRCm39) N226D probably damaging Het
Selenbp1 G A 3: 94,851,441 (GRCm39) R398H probably damaging Het
Selenoo A G 15: 88,983,485 (GRCm39) M509V probably benign Het
Sidt2 T C 9: 45,856,638 (GRCm39) D477G probably damaging Het
Slc2a5 T G 4: 150,210,095 (GRCm39) S27A probably damaging Het
Slc30a5 A T 13: 100,940,457 (GRCm39) H619Q probably damaging Het
Slc5a9 A G 4: 111,750,420 (GRCm39) I146T possibly damaging Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Slmap A G 14: 26,139,402 (GRCm39) Y771H probably damaging Het
Snx29 A G 16: 11,218,707 (GRCm39) D181G possibly damaging Het
Stat5a C A 11: 100,764,916 (GRCm39) T213N probably benign Het
Stt3a A T 9: 36,659,292 (GRCm39) V349D probably damaging Het
Tcf20 A T 15: 82,739,803 (GRCm39) D549E probably damaging Het
Thbs2 T A 17: 14,893,471 (GRCm39) D903V probably damaging Het
Tln2 T C 9: 67,209,842 (GRCm39) T432A probably damaging Het
Tmc1 A T 19: 20,834,039 (GRCm39) N241K probably benign Het
Tmem260 G T 14: 48,715,066 (GRCm39) R240L possibly damaging Het
Tnfaip6 A T 2: 51,933,742 (GRCm39) E32D probably damaging Het
Trpa1 A T 1: 14,969,625 (GRCm39) H381Q probably damaging Het
Tsen2 T C 6: 115,524,936 (GRCm39) I45T possibly damaging Het
Ttc6 G A 12: 57,752,338 (GRCm39) V1415I probably damaging Het
Ttll7 G T 3: 146,635,944 (GRCm39) R426L probably damaging Het
Ttn A C 2: 76,570,482 (GRCm39) S26804A probably damaging Het
Ubqlnl A T 7: 103,797,890 (GRCm39) C536S probably benign Het
Vmn2r73 A G 7: 85,506,936 (GRCm39) V792A probably benign Het
Zfp345 T C 2: 150,314,578 (GRCm39) T320A probably benign Het
Zfp407 T C 18: 84,227,774 (GRCm39) D1945G possibly damaging 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
R1781:Spata31d1c UTSW 13 65,183,985 (GRCm39) missense probably benign 0.01
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
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'- ATGTTGCTGCTGGCCTCAAC -3'
(R):5'- TGCAGAGAGGGAACTGACTC -3'

Sequencing Primer
(F):5'- GGCCTCAACTTTCTAACTGATAAC -3'
(R):5'- GAACTGACTCTGGTATGTTTATCACG -3'
Posted On 2014-10-01