Incidental Mutation 'R6073:Spata31d1a'
ID 482595
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 044234-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R6073 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 59847897-59854401 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59850808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 440 (N440I)
Ref Sequence ENSEMBL: ENSMUSP00000152919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066510] [ENSMUST00000224469] [ENSMUST00000224982]
AlphaFold E9QA35
Predicted Effect probably damaging
Transcript: ENSMUST00000066510
AA Change: N440I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: N440I

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 damaging
Transcript: ENSMUST00000224982
AA Change: N440I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225362
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.5%
Validation Efficiency 97% (57/59)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 A T 18: 62,312,537 (GRCm39) M96K probably benign Het
Aox1 T C 1: 58,143,668 (GRCm39) probably null Het
Bnip5 A T 17: 29,123,597 (GRCm39) V367D probably damaging Het
C3 C T 17: 57,513,223 (GRCm39) G183R probably null Het
Cad A G 5: 31,219,906 (GRCm39) T753A possibly damaging Het
Cc2d2a C T 5: 43,887,317 (GRCm39) T1249M probably damaging Het
Cd74 G A 18: 60,944,558 (GRCm39) probably null Het
Cenpc1 A G 5: 86,206,012 (GRCm39) probably null Het
Cenpe T A 3: 134,965,834 (GRCm39) L2104* probably null Het
Cttnbp2 A G 6: 18,434,232 (GRCm39) I542T probably damaging Het
Cttnbp2 T C 6: 18,448,368 (GRCm39) D97G probably benign Het
Dnah10 A G 5: 124,896,274 (GRCm39) D3546G probably benign Het
Dscaml1 G A 9: 45,361,881 (GRCm39) V214I probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epb41l2 T G 10: 25,377,730 (GRCm39) H597Q probably damaging Het
Erbin G A 13: 103,981,429 (GRCm39) Q499* probably null Het
Erc2 A T 14: 27,733,593 (GRCm39) I556F probably benign Het
Fscn2 G T 11: 120,252,613 (GRCm39) E27* probably null Het
Fsd1l A G 4: 53,679,994 (GRCm39) T231A probably damaging Het
G6pc1 T A 11: 101,258,802 (GRCm39) N60K probably benign Het
Gm43302 A G 5: 105,438,825 (GRCm39) V21A probably damaging Het
Heatr3 G T 8: 88,864,768 (GRCm39) A41S probably benign Het
Hrct1 T C 4: 43,727,543 (GRCm39) probably benign Het
Ihh T C 1: 74,990,438 (GRCm39) probably benign Het
Jph3 A T 8: 122,480,291 (GRCm39) Y323F probably damaging Het
Kcnj5 T C 9: 32,229,096 (GRCm39) D34G probably damaging Het
Magi2 G A 5: 20,774,286 (GRCm39) E231K probably damaging Het
Muc5b A C 7: 141,412,025 (GRCm39) Y1657S unknown Het
Muc5b G A 7: 141,402,797 (GRCm39) C667Y unknown Het
Myo10 G A 15: 25,736,728 (GRCm39) C459Y probably damaging Het
Nemp1 A G 10: 127,525,112 (GRCm39) K40E probably benign Het
Nipsnap1 T C 11: 4,838,895 (GRCm39) F107S possibly damaging Het
Ntrk1 T C 3: 87,698,677 (GRCm39) probably null Het
Pabpc1 A G 15: 36,600,895 (GRCm39) I305T probably damaging Het
Piezo2 A G 18: 63,145,716 (GRCm39) F2736S probably damaging Het
Pnldc1 T C 17: 13,109,250 (GRCm39) Y450C probably null Het
Polr2g A T 19: 8,774,673 (GRCm39) V70E probably damaging Het
Pramel23 T C 4: 143,424,838 (GRCm39) I202V probably damaging Het
Prpf8 T C 11: 75,384,848 (GRCm39) probably null Het
Rfxap T C 3: 54,714,708 (GRCm39) Y130C probably damaging Het
Rpl3l A G 17: 24,949,861 (GRCm39) E20G probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,113 (GRCm39) probably benign Het
Slc39a10 T C 1: 46,871,772 (GRCm39) D389G possibly damaging Het
Sorbs1 T C 19: 40,303,101 (GRCm39) H496R probably damaging Het
Spast G A 17: 74,680,300 (GRCm39) V420M probably damaging Het
Spata13 C T 14: 60,987,470 (GRCm39) T876I probably damaging Het
Tdrd1 G T 19: 56,831,655 (GRCm39) E349* probably null Het
Tie1 A G 4: 118,339,587 (GRCm39) V398A probably benign Het
Tmem255b T A 8: 13,506,958 (GRCm39) L229Q probably damaging Het
Tmem59 T A 4: 107,050,598 (GRCm39) probably null Het
Trim3 G A 7: 105,266,746 (GRCm39) R479C probably damaging Het
Ucp2 G A 7: 100,147,338 (GRCm39) V131M possibly damaging Het
Vars1 A G 17: 35,220,505 (GRCm39) D29G probably benign Het
Vmn2r43 T C 7: 8,258,184 (GRCm39) K343R probably benign Het
Washc5 T C 15: 59,207,019 (GRCm39) K1085E possibly damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp963 A T 8: 70,195,853 (GRCm39) C86* probably null Het
Zfp977 A G 7: 42,230,165 (GRCm39) I120T 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
R0606:Spata31d1a UTSW 13 59,850,245 (GRCm39) missense probably benign 0.03
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
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'- CCTTAGAGTTGGCAAGGGAG -3'
(R):5'- AATGCCATCAAATACTTCAGGGG -3'

Posted On 2017-07-14