Incidental Mutation 'IGL02991:Spata31'
ID 452943
Institutional Source Beutler Lab
Gene Symbol Spata31
Ensembl Gene ENSMUSG00000056223
Gene Name spermatogenesis associated 31
Synonyms Fam75a, Spata31a, 4930458L03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # IGL02991 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 65065220-65071008 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65068533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 227 (Y227C)
Ref Sequence ENSEMBL: ENSMUSP00000097025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070216] [ENSMUST00000221202]
AlphaFold E9QAF0
Predicted Effect probably benign
Transcript: ENSMUST00000070216
AA Change: Y227C

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097025
Gene: ENSMUSG00000056223
AA Change: Y227C

DomainStartEndE-ValueType
low complexity region 35 45 N/A INTRINSIC
low complexity region 91 106 N/A INTRINSIC
Pfam:FAM75 149 431 1.7e-83 PFAM
Pfam:FAM75 426 462 4.5e-9 PFAM
low complexity region 478 491 N/A INTRINSIC
low complexity region 544 555 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000221202
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 95% (73/77)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Adam23 T C 1: 63,586,978 (GRCm39) probably null Het
Aptx C A 4: 40,686,687 (GRCm39) G199C probably damaging Het
Asap2 T C 12: 21,299,294 (GRCm39) probably benign Het
Atp11b A G 3: 35,881,140 (GRCm39) T566A probably benign Het
Bcas3 C T 11: 85,348,713 (GRCm39) Q202* probably null Het
Cacna1h C A 17: 25,610,286 (GRCm39) R740L possibly damaging Het
Casp8 T A 1: 58,866,438 (GRCm39) N146K probably benign Het
Ccdc63 T C 5: 122,246,275 (GRCm39) M549V probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh20 T C 1: 104,861,972 (GRCm39) S51P probably benign Het
Chd7 T C 4: 8,828,398 (GRCm39) M1113T possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 ACC AC 1: 139,164,822 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Cxcl11 C T 5: 92,509,169 (GRCm39) R28H probably damaging Het
Defb40 C T 8: 19,025,119 (GRCm39) C29Y probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Fen1 A T 19: 10,178,026 (GRCm39) D139E probably benign Het
Frem3 A G 8: 81,395,511 (GRCm39) E1846G probably damaging Het
Gria2 T A 3: 80,615,116 (GRCm39) K455* probably null Het
Hmcn1 A T 1: 150,614,409 (GRCm39) N1332K possibly damaging Het
Htr5b C T 1: 121,455,756 (GRCm39) V55M probably benign Het
Ighv6-5 A T 12: 114,380,315 (GRCm39) N86K probably benign Het
Il4ra T C 7: 125,174,833 (GRCm39) V347A possibly damaging Het
Itih5 A G 2: 10,256,162 (GRCm39) E876G probably benign Het
Itpkb A T 1: 180,155,279 (GRCm39) probably benign Het
Lbr T C 1: 181,649,117 (GRCm39) Y334C probably damaging Het
Lrfn2 T C 17: 49,377,732 (GRCm39) L271P probably damaging Het
Lss T A 10: 76,379,745 (GRCm39) probably benign Het
Map1a T C 2: 121,132,091 (GRCm39) V731A probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mob3b T A 4: 35,083,805 (GRCm39) Q128L probably benign Het
Mog T C 17: 37,334,091 (GRCm39) M1V probably null Het
Mrpl4 A G 9: 20,919,901 (GRCm39) Y284C probably damaging Het
Mtus2 T G 5: 148,250,310 (GRCm39) V310G probably damaging Het
Mup11 ACAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCA 4: 60,618,275 (GRCm39) probably benign Het
Odad4 A G 11: 100,444,698 (GRCm39) S285G probably benign Het
Or10g9 T C 9: 39,911,698 (GRCm39) Y275C probably damaging Het
Or8g55 T A 9: 39,785,362 (GRCm39) S264T probably benign Het
Orc3 T G 4: 34,593,083 (GRCm39) Q328P probably damaging Het
Otulinl T C 15: 27,658,388 (GRCm39) S211G possibly damaging Het
Pcdhb20 G T 18: 37,639,264 (GRCm39) G597C probably damaging Het
Pdxdc1 A G 16: 13,675,260 (GRCm39) I334T probably damaging Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Proz G A 8: 13,123,490 (GRCm39) E254K probably benign Het
Psma6 T C 12: 55,454,357 (GRCm39) probably benign Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Ryr2 A G 13: 11,776,192 (GRCm39) V1115A probably damaging Het
Sfxn5 G T 6: 85,266,190 (GRCm39) N102K possibly damaging Het
Sgo2a G T 1: 58,054,514 (GRCm39) probably benign Het
Slc14a2 A T 18: 78,249,049 (GRCm39) M1K probably null Het
Spag5 T A 11: 78,205,077 (GRCm39) L621M probably damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Supt6 T C 11: 78,116,179 (GRCm39) E728G probably damaging Het
Sympk T A 7: 18,764,502 (GRCm39) L69Q probably damaging Het
Timd4 T A 11: 46,732,974 (GRCm39) probably benign Het
Trh G A 6: 92,220,719 (GRCm39) R48W probably damaging Het
Trip12 C A 1: 84,716,536 (GRCm39) D383Y probably damaging Het
Tspo2 T A 17: 48,757,014 (GRCm39) I23F possibly damaging Het
Tspyl5 A G 15: 33,686,989 (GRCm39) S319P probably damaging Het
Txlnb A G 10: 17,717,201 (GRCm39) K403E probably damaging Het
Vmn2r34 C A 7: 7,675,720 (GRCm39) C556F probably damaging Het
Vps13c C A 9: 67,821,159 (GRCm39) A1223E probably damaging Het
Other mutations in Spata31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00663:Spata31 APN 13 65,070,602 (GRCm39) nonsense probably null
IGL01143:Spata31 APN 13 65,068,630 (GRCm39) nonsense probably null
IGL01321:Spata31 APN 13 65,069,568 (GRCm39) missense probably benign 0.01
IGL01624:Spata31 APN 13 65,069,399 (GRCm39) missense probably damaging 1.00
IGL01844:Spata31 APN 13 65,068,968 (GRCm39) missense possibly damaging 0.49
IGL02259:Spata31 APN 13 65,069,297 (GRCm39) missense possibly damaging 0.90
IGL02358:Spata31 APN 13 65,069,032 (GRCm39) missense probably benign
IGL02377:Spata31 APN 13 65,068,194 (GRCm39) missense probably damaging 0.98
IGL02723:Spata31 APN 13 65,068,463 (GRCm39) missense probably benign 0.10
IGL03125:Spata31 APN 13 65,068,703 (GRCm39) missense probably benign 0.09
IGL03343:Spata31 APN 13 65,067,587 (GRCm39) missense probably benign 0.41
BB006:Spata31 UTSW 13 65,069,532 (GRCm39) missense probably benign 0.04
BB016:Spata31 UTSW 13 65,069,532 (GRCm39) missense probably benign 0.04
F5770:Spata31 UTSW 13 65,069,462 (GRCm39) missense probably benign 0.18
P0043:Spata31 UTSW 13 65,068,820 (GRCm39) splice site probably null
PIT4366001:Spata31 UTSW 13 65,069,319 (GRCm39) nonsense probably null
PIT4458001:Spata31 UTSW 13 65,069,664 (GRCm39) missense probably benign 0.01
PIT4687001:Spata31 UTSW 13 65,069,151 (GRCm39) missense probably benign 0.02
R0042:Spata31 UTSW 13 65,070,377 (GRCm39) missense probably benign 0.00
R0042:Spata31 UTSW 13 65,070,377 (GRCm39) missense probably benign 0.00
R0064:Spata31 UTSW 13 65,069,912 (GRCm39) missense probably damaging 0.98
R0064:Spata31 UTSW 13 65,069,912 (GRCm39) missense probably damaging 0.98
R0639:Spata31 UTSW 13 65,070,027 (GRCm39) missense probably benign 0.02
R1253:Spata31 UTSW 13 65,069,838 (GRCm39) missense probably benign 0.23
R1536:Spata31 UTSW 13 65,069,196 (GRCm39) missense probably damaging 1.00
R1656:Spata31 UTSW 13 65,068,953 (GRCm39) missense probably benign
R1802:Spata31 UTSW 13 65,070,197 (GRCm39) missense probably benign 0.01
R1813:Spata31 UTSW 13 65,069,612 (GRCm39) missense probably benign 0.32
R1916:Spata31 UTSW 13 65,070,359 (GRCm39) nonsense probably null
R1917:Spata31 UTSW 13 65,068,679 (GRCm39) missense possibly damaging 0.92
R1933:Spata31 UTSW 13 65,068,424 (GRCm39) missense probably benign 0.02
R2910:Spata31 UTSW 13 65,068,250 (GRCm39) missense probably benign 0.12
R3750:Spata31 UTSW 13 65,069,557 (GRCm39) missense probably benign 0.01
R3876:Spata31 UTSW 13 65,068,745 (GRCm39) missense probably benign 0.03
R3980:Spata31 UTSW 13 65,070,468 (GRCm39) missense probably benign 0.24
R4056:Spata31 UTSW 13 65,069,469 (GRCm39) missense probably benign 0.00
R4300:Spata31 UTSW 13 65,067,575 (GRCm39) missense probably benign 0.08
R4797:Spata31 UTSW 13 65,070,556 (GRCm39) nonsense probably null
R4997:Spata31 UTSW 13 65,067,537 (GRCm39) missense probably benign 0.00
R5185:Spata31 UTSW 13 65,065,340 (GRCm39) missense possibly damaging 0.93
R5366:Spata31 UTSW 13 65,068,273 (GRCm39) missense probably damaging 0.98
R5539:Spata31 UTSW 13 65,070,783 (GRCm39) missense probably benign 0.00
R5704:Spata31 UTSW 13 65,069,855 (GRCm39) missense probably benign 0.32
R5748:Spata31 UTSW 13 65,068,127 (GRCm39) makesense probably null
R5834:Spata31 UTSW 13 65,070,480 (GRCm39) missense probably benign 0.19
R5926:Spata31 UTSW 13 65,068,539 (GRCm39) missense possibly damaging 0.82
R6476:Spata31 UTSW 13 65,065,456 (GRCm39) missense possibly damaging 0.68
R6603:Spata31 UTSW 13 65,070,479 (GRCm39) missense probably damaging 1.00
R6620:Spata31 UTSW 13 65,067,571 (GRCm39) missense possibly damaging 0.68
R6965:Spata31 UTSW 13 65,070,648 (GRCm39) missense possibly damaging 0.90
R7086:Spata31 UTSW 13 65,070,043 (GRCm39) missense probably benign 0.02
R7140:Spata31 UTSW 13 65,068,913 (GRCm39) missense probably benign
R7396:Spata31 UTSW 13 65,068,547 (GRCm39) missense probably benign
R7545:Spata31 UTSW 13 65,070,359 (GRCm39) nonsense probably null
R7575:Spata31 UTSW 13 65,070,726 (GRCm39) missense unknown
R7607:Spata31 UTSW 13 65,069,406 (GRCm39) missense probably damaging 1.00
R7929:Spata31 UTSW 13 65,069,532 (GRCm39) missense probably benign 0.04
R8024:Spata31 UTSW 13 65,070,618 (GRCm39) missense probably benign 0.12
R8088:Spata31 UTSW 13 65,068,679 (GRCm39) missense probably benign 0.31
R8323:Spata31 UTSW 13 65,070,065 (GRCm39) missense possibly damaging 0.61
R8362:Spata31 UTSW 13 65,070,044 (GRCm39) missense possibly damaging 0.58
R8870:Spata31 UTSW 13 65,068,818 (GRCm39) missense probably benign
R9429:Spata31 UTSW 13 65,070,336 (GRCm39) missense probably benign 0.43
R9465:Spata31 UTSW 13 65,068,527 (GRCm39) missense probably damaging 1.00
R9542:Spata31 UTSW 13 65,070,077 (GRCm39) missense probably damaging 0.96
R9627:Spata31 UTSW 13 65,065,409 (GRCm39) missense possibly damaging 0.95
V7580:Spata31 UTSW 13 65,069,462 (GRCm39) missense probably benign 0.18
V7581:Spata31 UTSW 13 65,069,462 (GRCm39) missense probably benign 0.18
V7583:Spata31 UTSW 13 65,069,462 (GRCm39) missense probably benign 0.18
Z1176:Spata31 UTSW 13 65,069,786 (GRCm39) nonsense probably null
Z1177:Spata31 UTSW 13 65,069,786 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCAACAGAAATGTGACCAGC -3'
(R):5'- TGGACCATCAAGGGTAAAGTTG -3'

Sequencing Primer
(F):5'- CAGAAATGTGACCAGCTTTTCTG -3'
(R):5'- ATTTTCTATTTGTTTTGCCAGTGAG -3'
Posted On 2017-01-24