Incidental Mutation 'IGL00740:Spata31e5'
ID 11020
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: 0.059) question?
Stock # IGL00740
Quality Score
Status
Chromosome 1
Chromosomal Location 28815203-28819333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28817732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 100 (L100P)
Ref Sequence ENSEMBL: ENSMUSP00000058140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059937]
AlphaFold E9Q8J5
Predicted Effect possibly damaging
Transcript: ENSMUST00000059937
AA Change: L100P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: L100P

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: 9 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btn2a2 T C 13: 23,662,655 (GRCm39) I423V probably benign Het
Cngb3 A T 4: 19,280,956 (GRCm39) K8N probably damaging Het
Dmxl1 T G 18: 50,050,735 (GRCm39) D2454E probably benign Het
Hif3a A T 7: 16,785,841 (GRCm39) probably null Het
Muc5b C A 7: 141,409,335 (GRCm39) Q1140K unknown Het
Sfswap T A 5: 129,590,297 (GRCm39) Y265N probably damaging Het
Susd2 A T 10: 75,473,882 (GRCm39) M571K probably benign Het
Tmco1 C A 1: 167,143,837 (GRCm39) N89K probably damaging Het
Ttc7b G A 12: 100,342,472 (GRCm39) A518V probably benign Het
Other mutations in Spata31e5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02982:Spata31e5 APN 1 28,817,135 (GRCm39) missense probably damaging 1.00
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 2012-12-06