Incidental Mutation 'R0606:Spata31d1a'
ID 54172
Institutional Source Beutler Lab
Gene Symbol Spata31d1a
Ensembl Gene ENSMUSG00000050876
Gene Name spermatogenesis associated 31 subfamily D, member 1A
Synonyms 1700013B16Rik, Fam75d3, Fam75d1a
MMRRC Submission 038795-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R0606 (G1)
Quality Score 156
Status Validated
Chromosome 13
Chromosomal Location 59847897-59854401 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59850245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 628 (S628G)
Ref Sequence ENSEMBL: ENSMUSP00000152919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066510] [ENSMUST00000224469] [ENSMUST00000224982]
AlphaFold E9QA35
Predicted Effect probably benign
Transcript: ENSMUST00000066510
AA Change: S628G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: S628G

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
Pfam:DUF4599 66 150 3.7e-25 PFAM
low complexity region 196 217 N/A INTRINSIC
low complexity region 240 266 N/A INTRINSIC
Pfam:FAM75 400 772 2.9e-108 PFAM
low complexity region 1144 1154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224469
Predicted Effect probably benign
Transcript: ENSMUST00000224982
AA Change: S628G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225362
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.2%
Validation Efficiency 98% (99/101)
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 T C 17: 33,652,572 (GRCm39) Y211H probably damaging Het
Actn1 A T 12: 80,221,421 (GRCm39) probably benign Het
Adtrp A G 13: 41,920,881 (GRCm39) F197L probably damaging Het
Ankrd11 G A 8: 123,619,571 (GRCm39) T1406I probably benign Het
Arhgap24 A T 5: 103,045,086 (GRCm39) R620W probably damaging Het
Atg13 A G 2: 91,512,418 (GRCm39) Y284H probably benign Het
Atrn A G 2: 130,748,776 (GRCm39) E99G possibly damaging Het
Cage1 A T 13: 38,200,470 (GRCm39) probably benign Het
Cblif A T 19: 11,729,658 (GRCm39) I206F possibly damaging Het
Ccr3 T A 9: 123,828,839 (GRCm39) M58K probably benign Het
Cdk18 G T 1: 132,045,355 (GRCm39) probably benign Het
Chst5 A G 8: 112,617,551 (GRCm39) V23A probably benign Het
Col4a3 T C 1: 82,650,307 (GRCm39) probably benign Het
Col4a6 A G X: 139,975,219 (GRCm39) probably benign Het
Csmd3 T C 15: 48,321,058 (GRCm39) I251V probably benign Het
Csnk1g3 G A 18: 54,050,100 (GRCm39) V115M probably damaging Het
Cst7 A T 2: 150,412,439 (GRCm39) M1L probably benign Het
Cyp4f17 A T 17: 32,746,817 (GRCm39) D373V probably damaging Het
Dclk2 G A 3: 86,813,311 (GRCm39) R212W probably damaging Het
Dhrs7b T G 11: 60,721,572 (GRCm39) probably benign Het
Dhx58 T A 11: 100,593,077 (GRCm39) H210L probably benign Het
Dnah9 T C 11: 65,732,159 (GRCm39) Y4249C probably damaging Het
Eif5b T A 1: 38,087,974 (GRCm39) L990H probably damaging Het
Faap24 T C 7: 35,094,388 (GRCm39) probably benign Het
Fryl T A 5: 73,282,077 (GRCm39) H174L probably benign Het
Gabrr1 T C 4: 33,132,696 (GRCm39) W15R probably benign Het
Gm15446 T C 5: 110,091,347 (GRCm39) V533A probably benign Het
Gm6760 T A X: 63,195,259 (GRCm39) K63* probably null Het
Gne C T 4: 44,042,244 (GRCm39) E444K possibly damaging Het
Gpr173 T A X: 151,130,036 (GRCm39) M146L possibly damaging Het
Hira C T 16: 18,753,797 (GRCm39) S547L probably benign Het
Hnf1b A G 11: 83,754,810 (GRCm39) H161R probably benign Het
Hnrnpm T A 17: 33,877,364 (GRCm39) N53I probably damaging Het
Hs3st5 A T 10: 36,708,584 (GRCm39) I40F probably benign Het
Hydin C T 8: 111,276,430 (GRCm39) probably benign Het
Ift172 A G 5: 31,411,657 (GRCm39) I1607T probably damaging Het
Igfn1 T C 1: 135,887,639 (GRCm39) Q2475R probably damaging Het
Il6st T C 13: 112,640,806 (GRCm39) S800P possibly damaging Het
Iqub G A 6: 24,501,260 (GRCm39) probably benign Het
Itgb1 A T 8: 129,448,853 (GRCm39) probably benign Het
Kctd21 G A 7: 96,996,808 (GRCm39) E94K probably benign Het
Kir3dl2 A G X: 135,354,260 (GRCm39) V233A possibly damaging Het
Klra2 A T 6: 131,197,187 (GRCm39) C271S probably damaging Het
Lacc1 A T 14: 77,267,061 (GRCm39) C401S probably damaging Het
Lmna T C 3: 88,389,885 (GRCm39) E580G probably damaging Het
Matn2 A G 15: 34,345,296 (GRCm39) Y101C probably damaging Het
Mrps16 G A 14: 20,441,457 (GRCm39) R116* probably null Het
Ndrg2 G T 14: 52,143,674 (GRCm39) R333S probably damaging Het
Nf2 A G 11: 4,732,194 (GRCm39) I507T possibly damaging Het
Nktr A G 9: 121,578,356 (GRCm39) probably benign Het
Nkx3-1 G A 14: 69,428,455 (GRCm39) probably benign Het
Npat T C 9: 53,467,781 (GRCm39) probably null Het
Nrxn1 T C 17: 90,872,801 (GRCm39) N1047S probably damaging Het
Nup210 A T 6: 91,003,911 (GRCm39) I1402N possibly damaging Het
Or5d40 G T 2: 88,015,624 (GRCm39) M134I possibly damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pdcl2 C T 5: 76,460,328 (GRCm39) S182N probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pla2g4a A G 1: 149,716,455 (GRCm39) F669L probably benign Het
Plekha8 A G 6: 54,606,805 (GRCm39) K367E probably damaging Het
Pola1 A G X: 92,531,693 (GRCm39) probably benign Het
Ppm1d C T 11: 85,236,703 (GRCm39) T494I probably benign Het
Pramel16 T A 4: 143,676,453 (GRCm39) Y217F probably benign Het
Prl6a1 A T 13: 27,498,177 (GRCm39) probably benign Het
Ptprg T A 14: 12,154,131 (GRCm38) S617R probably benign Het
R3hdm2 G A 10: 127,280,313 (GRCm39) G45D probably damaging Het
Rev1 T A 1: 38,098,204 (GRCm39) R780W probably null Het
Rnf139 T A 15: 58,771,676 (GRCm39) F567Y probably damaging Het
Scarf1 T C 11: 75,405,174 (GRCm39) V71A probably damaging Het
Shtn1 A G 19: 58,988,372 (GRCm39) S438P probably damaging Het
Slc30a3 T A 5: 31,246,067 (GRCm39) H221L probably benign Het
Smo A C 6: 29,753,603 (GRCm39) I160L possibly damaging Het
Snapc5 A T 9: 64,086,582 (GRCm39) probably benign Het
Snf8 G T 11: 95,925,799 (GRCm39) probably benign Het
Sphkap A T 1: 83,258,145 (GRCm39) D199E probably damaging Het
Spring1 T C 5: 118,397,154 (GRCm39) Y128H probably damaging Het
Stxbp5l T C 16: 37,024,883 (GRCm39) T572A possibly damaging Het
Thada C A 17: 84,723,731 (GRCm39) V1108L possibly damaging Het
Tln1 T C 4: 43,547,756 (GRCm39) Q735R probably benign Het
Trim24 G A 6: 37,848,169 (GRCm39) E42K probably benign Het
Trnt1 T A 6: 106,754,869 (GRCm39) probably benign Het
Ttbk2 A T 2: 120,604,353 (GRCm39) M215K probably damaging Het
Ttc8 C T 12: 98,909,718 (GRCm39) probably benign Het
Ube3c A G 5: 29,795,926 (GRCm39) Y105C probably damaging Het
Unc13c A G 9: 73,438,265 (GRCm39) probably benign Het
Usp36 A G 11: 118,153,854 (GRCm39) probably benign Het
Vcf2 C T X: 149,181,360 (GRCm39) A144T probably benign Het
Vmn2r102 T C 17: 19,899,106 (GRCm39) S483P possibly damaging Het
Wdr95 A G 5: 149,511,595 (GRCm39) T432A probably damaging Het
Wnk1 G T 6: 119,903,644 (GRCm39) P2523H probably damaging Het
Xpo4 A G 14: 57,875,665 (GRCm39) probably benign Het
Zar1 G T 5: 72,737,886 (GRCm39) P71Q probably damaging Het
Zbtb41 T C 1: 139,351,348 (GRCm39) Y154H probably benign Het
Zer1 G T 2: 29,994,809 (GRCm39) probably benign Het
Zfp454 A G 11: 50,765,012 (GRCm39) F140S probably benign Het
Other mutations in Spata31d1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00915:Spata31d1a APN 13 59,849,999 (GRCm39) missense probably benign 0.27
IGL01397:Spata31d1a APN 13 59,849,552 (GRCm39) missense probably damaging 0.99
IGL01448:Spata31d1a APN 13 59,849,373 (GRCm39) missense probably benign 0.06
IGL02715:Spata31d1a APN 13 59,851,549 (GRCm39) missense probably benign 0.44
IGL02983:Spata31d1a APN 13 59,851,508 (GRCm39) missense possibly damaging 0.65
IGL03224:Spata31d1a APN 13 59,848,840 (GRCm39) missense possibly damaging 0.85
PIT1430001:Spata31d1a UTSW 13 59,849,010 (GRCm39) missense probably benign
R0302:Spata31d1a UTSW 13 59,850,964 (GRCm39) missense probably benign
R0387:Spata31d1a UTSW 13 59,851,315 (GRCm39) missense probably damaging 0.99
R0464:Spata31d1a UTSW 13 59,849,573 (GRCm39) missense possibly damaging 0.85
R0617:Spata31d1a UTSW 13 59,850,073 (GRCm39) missense possibly damaging 0.53
R0691:Spata31d1a UTSW 13 59,848,199 (GRCm39) missense possibly damaging 0.93
R0746:Spata31d1a UTSW 13 59,850,077 (GRCm39) missense possibly damaging 0.95
R1019:Spata31d1a UTSW 13 59,850,182 (GRCm39) missense probably benign
R1397:Spata31d1a UTSW 13 59,852,853 (GRCm39) splice site probably benign
R1543:Spata31d1a UTSW 13 59,850,056 (GRCm39) missense probably benign
R1619:Spata31d1a UTSW 13 59,850,247 (GRCm39) nonsense probably null
R1799:Spata31d1a UTSW 13 59,851,216 (GRCm39) missense probably benign
R1820:Spata31d1a UTSW 13 59,849,069 (GRCm39) missense possibly damaging 0.86
R1885:Spata31d1a UTSW 13 59,849,821 (GRCm39) missense probably damaging 0.99
R1909:Spata31d1a UTSW 13 59,850,509 (GRCm39) missense probably damaging 0.99
R2012:Spata31d1a UTSW 13 59,850,370 (GRCm39) missense possibly damaging 0.93
R2099:Spata31d1a UTSW 13 59,853,885 (GRCm39) missense probably damaging 0.97
R2132:Spata31d1a UTSW 13 59,848,857 (GRCm39) missense probably damaging 0.96
R2224:Spata31d1a UTSW 13 59,851,529 (GRCm39) missense probably benign
R2225:Spata31d1a UTSW 13 59,851,529 (GRCm39) missense probably benign
R2226:Spata31d1a UTSW 13 59,851,529 (GRCm39) missense probably benign
R2358:Spata31d1a UTSW 13 59,851,702 (GRCm39) missense probably benign 0.00
R2495:Spata31d1a UTSW 13 59,849,807 (GRCm39) missense possibly damaging 0.93
R3081:Spata31d1a UTSW 13 59,850,907 (GRCm39) missense probably benign 0.15
R3151:Spata31d1a UTSW 13 59,849,180 (GRCm39) missense probably benign 0.06
R3971:Spata31d1a UTSW 13 59,849,971 (GRCm39) missense possibly damaging 0.85
R4156:Spata31d1a UTSW 13 59,852,861 (GRCm39) missense possibly damaging 0.92
R4760:Spata31d1a UTSW 13 59,849,459 (GRCm39) missense probably damaging 1.00
R4767:Spata31d1a UTSW 13 59,848,969 (GRCm39) missense probably benign 0.03
R4877:Spata31d1a UTSW 13 59,850,337 (GRCm39) missense probably damaging 0.99
R4894:Spata31d1a UTSW 13 59,849,542 (GRCm39) missense probably damaging 0.98
R4961:Spata31d1a UTSW 13 59,849,716 (GRCm39) missense possibly damaging 0.86
R4990:Spata31d1a UTSW 13 59,850,965 (GRCm39) missense probably benign 0.00
R4991:Spata31d1a UTSW 13 59,850,965 (GRCm39) missense probably benign 0.00
R4992:Spata31d1a UTSW 13 59,850,965 (GRCm39) missense probably benign 0.00
R5088:Spata31d1a UTSW 13 59,848,966 (GRCm39) splice site probably null
R5094:Spata31d1a UTSW 13 59,852,858 (GRCm39) critical splice donor site probably null
R5330:Spata31d1a UTSW 13 59,848,217 (GRCm39) missense possibly damaging 0.86
R5587:Spata31d1a UTSW 13 59,850,432 (GRCm39) missense probably damaging 0.96
R5832:Spata31d1a UTSW 13 59,849,380 (GRCm39) missense probably damaging 0.98
R6073:Spata31d1a UTSW 13 59,850,808 (GRCm39) missense probably damaging 0.98
R6208:Spata31d1a UTSW 13 59,848,378 (GRCm39) missense probably damaging 0.98
R6224:Spata31d1a UTSW 13 59,854,134 (GRCm39) start gained probably benign
R6250:Spata31d1a UTSW 13 59,849,615 (GRCm39) missense possibly damaging 0.93
R6359:Spata31d1a UTSW 13 59,850,920 (GRCm39) missense probably benign
R6806:Spata31d1a UTSW 13 59,851,032 (GRCm39) missense probably benign
R6848:Spata31d1a UTSW 13 59,849,777 (GRCm39) missense possibly damaging 0.91
R6851:Spata31d1a UTSW 13 59,851,725 (GRCm39) missense unknown
R6985:Spata31d1a UTSW 13 59,850,907 (GRCm39) missense probably benign 0.15
R7007:Spata31d1a UTSW 13 59,851,448 (GRCm39) missense probably benign
R7037:Spata31d1a UTSW 13 59,848,138 (GRCm39) missense possibly damaging 0.96
R7124:Spata31d1a UTSW 13 59,850,301 (GRCm39) missense probably damaging 0.99
R7271:Spata31d1a UTSW 13 59,849,913 (GRCm39) missense probably benign 0.00
R7346:Spata31d1a UTSW 13 59,851,015 (GRCm39) missense probably benign
R7556:Spata31d1a UTSW 13 59,849,798 (GRCm39) missense probably benign 0.00
R7581:Spata31d1a UTSW 13 59,851,953 (GRCm39) critical splice donor site probably null
R7891:Spata31d1a UTSW 13 59,848,139 (GRCm39) missense possibly damaging 0.96
R7995:Spata31d1a UTSW 13 59,848,924 (GRCm39) missense probably benign 0.06
R8379:Spata31d1a UTSW 13 59,850,668 (GRCm39) missense probably benign 0.00
R8497:Spata31d1a UTSW 13 59,848,988 (GRCm39) missense possibly damaging 0.91
R8837:Spata31d1a UTSW 13 59,850,596 (GRCm39) missense possibly damaging 0.92
R9108:Spata31d1a UTSW 13 59,850,982 (GRCm39) missense probably benign 0.00
Z1177:Spata31d1a UTSW 13 59,850,899 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGGCACTGTCTGACCCATGAAG -3'
(R):5'- TCATCCAAGGTCCATGCTCCCAAG -3'

Sequencing Primer
(F):5'- GTAGCTCCACAGGACTTACATTG -3'
(R):5'- AAGACAATCCTTCCTGGAGAC -3'
Posted On 2013-07-11