Incidental Mutation 'IGL02744:Gm8206'
ID 305995
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm8206
Ensembl Gene ENSMUSG00000091568
Gene Name predicted gene 8206
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02744
Quality Score
Status
Chromosome 14
Chromosomal Location 16431564-16453014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6022488 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 4 (I4V)
Ref Sequence ENSEMBL: ENSMUSP00000127533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164139] [ENSMUST00000168733] [ENSMUST00000171428]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000164139
AA Change: I4V

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000128269
Gene: ENSMUSG00000091568
AA Change: I4V

DomainStartEndE-ValueType
Pfam:Takusan 1 57 2.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168733
SMART Domains Protein: ENSMUSP00000129374
Gene: ENSMUSG00000091568

DomainStartEndE-ValueType
Pfam:Takusan 46 129 1.2e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171428
AA Change: I4V

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127533
Gene: ENSMUSG00000091568
AA Change: I4V

DomainStartEndE-ValueType
Pfam:Takusan 1 56 1.2e-16 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930564D02Rik A G 3: 104,985,852 (GRCm39) M89V unknown Het
Actl11 C A 9: 107,807,061 (GRCm39) H461Q probably benign Het
Aoc1l1 A G 6: 48,952,249 (GRCm39) E58G probably benign Het
Aox4 A T 1: 58,294,711 (GRCm39) R973S possibly damaging Het
Arhgef10 C T 8: 14,980,198 (GRCm39) A146V probably benign Het
Cep350 A T 1: 155,807,279 (GRCm39) S713T probably damaging Het
Epha5 T C 5: 84,255,848 (GRCm39) I458V probably benign Het
Galnt17 A G 5: 131,140,613 (GRCm39) I168T probably damaging Het
Gli3 T C 13: 15,788,471 (GRCm39) probably null Het
Gm11110 T A 17: 57,399,693 (GRCm39) probably benign Het
Golga1 A G 2: 38,908,486 (GRCm39) S713P probably damaging Het
Ing5 T C 1: 93,744,210 (GRCm39) M172T probably damaging Het
Lyn A G 4: 3,738,808 (GRCm39) T27A probably benign Het
Or2b28 A G 13: 21,531,164 (GRCm39) Y22C probably damaging Het
Pou5f1 T C 17: 35,820,311 (GRCm39) V40A probably damaging Het
Pramel13 A T 4: 144,119,493 (GRCm39) L358Q probably damaging Het
Prdm16 A G 4: 154,429,910 (GRCm39) L353P probably damaging Het
Psg18 T A 7: 18,083,327 (GRCm39) Q276L probably benign Het
Ralgapb A C 2: 158,288,071 (GRCm39) Q369H probably damaging Het
Slc44a4 A G 17: 35,146,776 (GRCm39) N300D probably damaging Het
Slc6a15 A T 10: 103,253,894 (GRCm39) E610V probably benign Het
Slc8a2 T C 7: 15,878,954 (GRCm39) V480A possibly damaging Het
Speer1j C T 5: 11,555,340 (GRCm39) T103I possibly damaging Het
Spg7 T C 8: 123,820,400 (GRCm39) F617S probably damaging Het
Srcap A G 7: 127,133,838 (GRCm39) D863G probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suox T C 10: 128,507,086 (GRCm39) E314G probably benign Het
Tln2 T A 9: 67,136,658 (GRCm39) K1276* probably null Het
Tmem72 A G 6: 116,672,451 (GRCm39) L130P probably damaging Het
Ttll1 T C 15: 83,373,778 (GRCm39) Y345C probably benign Het
Ush2a A T 1: 188,090,914 (GRCm39) probably null Het
Xpo6 G A 7: 125,707,620 (GRCm39) probably benign Het
Zc3h14 A T 12: 98,751,234 (GRCm39) Y512F possibly damaging Het
Zfp438 A T 18: 5,214,760 (GRCm39) M66K probably benign Het
Other mutations in Gm8206
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01823:Gm8206 APN 14 6,017,078 (GRCm38) missense probably benign
R1933:Gm8206 UTSW 14 6,022,475 (GRCm38) missense probably benign 0.19
R7650:Gm8206 UTSW 14 6,055,211 (GRCm38) splice site probably null
Posted On 2015-04-16