Incidental Mutation 'IGL02982:Spata31e5'
ID 406594
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata31e5
Ensembl Gene ENSMUSG00000048411
Gene Name spermatogenesis associated 31 subfamily E member 5
Synonyms Gm597, LOC210962
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL02982
Quality Score
Status
Chromosome 1
Chromosomal Location 28815203-28819333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28817135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 299 (H299R)
Ref Sequence ENSEMBL: ENSMUSP00000058140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059937]
AlphaFold E9Q8J5
Predicted Effect probably damaging
Transcript: ENSMUST00000059937
AA Change: H299R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: H299R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 112 129 N/A INTRINSIC
Pfam:FAM75 137 472 8.1e-14 PFAM
low complexity region 664 675 N/A INTRINSIC
internal_repeat_1 718 807 1.4e-5 PROSPERO
internal_repeat_1 807 894 1.4e-5 PROSPERO
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G T 8: 25,294,447 (GRCm39) A384D probably benign Het
Adamts19 T A 18: 59,157,590 (GRCm39) C961S probably damaging Het
Agbl2 G A 2: 90,636,159 (GRCm39) C565Y probably damaging Het
Aox3 G A 1: 58,166,846 (GRCm39) E190K probably benign Het
Arf2 T G 11: 103,872,602 (GRCm39) D74E probably damaging Het
Bptf T G 11: 106,967,500 (GRCm39) D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Ces1a A G 8: 93,771,603 (GRCm39) F65L probably damaging Het
Def8 T C 8: 124,183,278 (GRCm39) probably benign Het
Fat4 T C 3: 38,944,992 (GRCm39) L1295P probably damaging Het
Filip1l A G 16: 57,392,595 (GRCm39) H1061R probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gldc A G 19: 30,122,545 (GRCm39) probably null Het
Golgb1 A C 16: 36,746,172 (GRCm39) D2917A probably damaging Het
Gpc5 G A 14: 115,607,400 (GRCm39) C334Y probably damaging Het
Gpsm1 T A 2: 26,214,871 (GRCm39) L252Q probably damaging Het
Iars1 C T 13: 49,863,185 (GRCm39) R546C probably benign Het
Kbtbd8 G T 6: 95,103,547 (GRCm39) V399L probably benign Het
Kcnd2 A T 6: 21,217,148 (GRCm39) D284V probably damaging Het
Kcnj6 T C 16: 94,633,376 (GRCm39) K227R possibly damaging Het
Lhx9 A T 1: 138,766,349 (GRCm39) H155Q probably damaging Het
Mcm9 A G 10: 53,501,922 (GRCm39) V221A probably damaging Het
Myo9a A T 9: 59,815,491 (GRCm39) K2237* probably null Het
Ntf3 A T 6: 126,079,340 (GRCm39) D55E probably damaging Het
Or13a28 A T 7: 140,217,865 (GRCm39) I84F probably benign Het
Or4c15b G T 2: 89,113,453 (GRCm39) T29K probably damaging Het
Plek T A 11: 16,931,826 (GRCm39) I342F probably damaging Het
Polrmt A G 10: 79,574,182 (GRCm39) Y853H probably damaging Het
Psg29 A G 7: 16,945,632 (GRCm39) T401A probably damaging Het
Ptprb A G 10: 116,158,533 (GRCm39) T822A probably benign Het
Ptprq A C 10: 107,422,545 (GRCm39) F1616V probably damaging Het
Rpe65 T A 3: 159,305,998 (GRCm39) V19E probably damaging Het
Scamp2 G A 9: 57,488,832 (GRCm39) A178T probably benign Het
Spta1 A G 1: 174,014,854 (GRCm39) I445V probably benign Het
Tas2r135 A G 6: 42,383,187 (GRCm39) E242G probably benign Het
Ttc22 T C 4: 106,495,783 (GRCm39) V379A probably damaging Het
Unc5d C T 8: 29,142,881 (GRCm39) G857E probably damaging Het
Usp28 A G 9: 48,929,739 (GRCm39) I43V probably benign Het
Vmn2r68 A T 7: 84,883,649 (GRCm39) M152K probably benign Het
Wrn C T 8: 33,833,094 (GRCm39) G133R probably damaging Het
Zfyve26 G A 12: 79,310,644 (GRCm39) T187M probably damaging Het
Zic2 A G 14: 122,715,979 (GRCm39) E367G probably damaging Het
Other mutations in Spata31e5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00740:Spata31e5 APN 1 28,817,732 (GRCm39) missense possibly damaging 0.94
IGL00885:Spata31e5 APN 1 28,815,926 (GRCm39) missense unknown
IGL01296:Spata31e5 APN 1 28,816,137 (GRCm39) missense probably benign 0.23
IGL01476:Spata31e5 APN 1 28,816,534 (GRCm39) missense probably benign 0.04
IGL02125:Spata31e5 APN 1 28,815,419 (GRCm39) missense possibly damaging 0.91
IGL02410:Spata31e5 APN 1 28,817,712 (GRCm39) missense probably benign 0.25
IGL03031:Spata31e5 APN 1 28,817,664 (GRCm39) missense probably benign 0.03
IGL03267:Spata31e5 APN 1 28,816,202 (GRCm39) missense probably damaging 1.00
R0294:Spata31e5 UTSW 1 28,817,744 (GRCm39) missense probably benign 0.00
R0433:Spata31e5 UTSW 1 28,816,423 (GRCm39) nonsense probably null
R0485:Spata31e5 UTSW 1 28,817,223 (GRCm39) missense probably damaging 1.00
R0645:Spata31e5 UTSW 1 28,816,011 (GRCm39) missense probably damaging 0.99
R0744:Spata31e5 UTSW 1 28,816,902 (GRCm39) missense possibly damaging 0.46
R0836:Spata31e5 UTSW 1 28,816,902 (GRCm39) missense possibly damaging 0.46
R1036:Spata31e5 UTSW 1 28,816,883 (GRCm39) missense probably benign 0.01
R1302:Spata31e5 UTSW 1 28,815,421 (GRCm39) missense probably benign 0.00
R1394:Spata31e5 UTSW 1 28,815,890 (GRCm39) missense possibly damaging 0.61
R1395:Spata31e5 UTSW 1 28,815,890 (GRCm39) missense possibly damaging 0.61
R1514:Spata31e5 UTSW 1 28,817,829 (GRCm39) missense possibly damaging 0.83
R1535:Spata31e5 UTSW 1 28,816,505 (GRCm39) missense probably damaging 1.00
R2004:Spata31e5 UTSW 1 28,816,260 (GRCm39) missense probably damaging 1.00
R2021:Spata31e5 UTSW 1 28,817,234 (GRCm39) missense probably damaging 0.98
R2022:Spata31e5 UTSW 1 28,817,234 (GRCm39) missense probably damaging 0.98
R3115:Spata31e5 UTSW 1 28,815,410 (GRCm39) missense possibly damaging 0.92
R3615:Spata31e5 UTSW 1 28,815,656 (GRCm39) missense probably benign 0.26
R3616:Spata31e5 UTSW 1 28,815,656 (GRCm39) missense probably benign 0.26
R3862:Spata31e5 UTSW 1 28,816,722 (GRCm39) missense probably damaging 0.98
R4067:Spata31e5 UTSW 1 28,816,712 (GRCm39) missense probably damaging 0.98
R4119:Spata31e5 UTSW 1 28,817,054 (GRCm39) missense probably damaging 0.99
R4415:Spata31e5 UTSW 1 28,816,214 (GRCm39) missense probably benign 0.01
R5010:Spata31e5 UTSW 1 28,816,943 (GRCm39) missense possibly damaging 0.52
R5109:Spata31e5 UTSW 1 28,816,636 (GRCm39) missense possibly damaging 0.46
R5122:Spata31e5 UTSW 1 28,819,141 (GRCm39) missense probably benign 0.00
R5533:Spata31e5 UTSW 1 28,817,163 (GRCm39) missense probably damaging 1.00
R6085:Spata31e5 UTSW 1 28,817,308 (GRCm39) missense possibly damaging 0.55
R6116:Spata31e5 UTSW 1 28,817,780 (GRCm39) missense probably benign 0.01
R6750:Spata31e5 UTSW 1 28,816,495 (GRCm39) missense probably damaging 0.98
R6757:Spata31e5 UTSW 1 28,819,191 (GRCm39) missense probably damaging 0.98
R6774:Spata31e5 UTSW 1 28,815,974 (GRCm39) missense probably benign 0.00
R7156:Spata31e5 UTSW 1 28,815,848 (GRCm39) missense possibly damaging 0.53
R7365:Spata31e5 UTSW 1 28,819,233 (GRCm39) missense probably benign 0.04
R7739:Spata31e5 UTSW 1 28,816,689 (GRCm39) missense possibly damaging 0.72
R7996:Spata31e5 UTSW 1 28,817,487 (GRCm39) missense probably damaging 0.98
R8082:Spata31e5 UTSW 1 28,816,579 (GRCm39) missense probably benign 0.08
R8281:Spata31e5 UTSW 1 28,817,225 (GRCm39) missense possibly damaging 0.77
R8514:Spata31e5 UTSW 1 28,817,586 (GRCm39) missense probably damaging 1.00
R8944:Spata31e5 UTSW 1 28,816,155 (GRCm39) missense probably benign 0.00
R9042:Spata31e5 UTSW 1 28,816,037 (GRCm39) missense possibly damaging 0.72
R9101:Spata31e5 UTSW 1 28,815,740 (GRCm39) missense probably benign 0.04
R9106:Spata31e5 UTSW 1 28,815,975 (GRCm39) missense probably benign 0.00
R9173:Spata31e5 UTSW 1 28,816,430 (GRCm39) missense probably benign 0.22
R9596:Spata31e5 UTSW 1 28,815,688 (GRCm39) missense probably benign 0.07
R9632:Spata31e5 UTSW 1 28,817,120 (GRCm39) missense probably benign 0.20
R9656:Spata31e5 UTSW 1 28,816,536 (GRCm39) missense probably benign 0.02
R9659:Spata31e5 UTSW 1 28,816,536 (GRCm39) missense probably benign 0.02
R9661:Spata31e5 UTSW 1 28,816,536 (GRCm39) missense probably benign 0.02
R9663:Spata31e5 UTSW 1 28,816,536 (GRCm39) missense probably benign 0.02
R9710:Spata31e5 UTSW 1 28,817,120 (GRCm39) missense probably benign 0.20
Posted On 2016-08-02