Incidental Mutation 'IGL01357:2310022B05Rik'
ID 75558
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2310022B05Rik
Ensembl Gene ENSMUSG00000031983
Gene Name RIKEN cDNA 2310022B05 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL01357
Quality Score
Status
Chromosome 8
Chromosomal Location 125362495-125390108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 125366072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 224 (V224F)
Ref Sequence ENSEMBL: ENSMUSP00000034464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034464]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034464
AA Change: V224F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034464
Gene: ENSMUSG00000031983
AA Change: V224F

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
Pfam:DUF4706 31 135 4.1e-45 PFAM
low complexity region 271 286 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,897,232 (GRCm39) M637K probably damaging Het
Abca8a A G 11: 109,922,398 (GRCm39) V1395A probably benign Het
Adam20 A C 8: 41,249,597 (GRCm39) D569A probably benign Het
Axl A G 7: 25,473,594 (GRCm39) L344P probably benign Het
B3gat1 T C 9: 26,668,283 (GRCm39) L291P probably damaging Het
Cdc25c A T 18: 34,867,910 (GRCm39) probably null Het
Crat A T 2: 30,297,736 (GRCm39) Y263N probably damaging Het
Crb2 A G 2: 37,685,523 (GRCm39) probably benign Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Dnah7a A T 1: 53,701,540 (GRCm39) V205D probably benign Het
Emsy A T 7: 98,240,077 (GRCm39) Y1011* probably null Het
Fbln5 C T 12: 101,717,146 (GRCm39) S414N probably damaging Het
Fev T C 1: 74,921,683 (GRCm39) E89G possibly damaging Het
Fgg A G 3: 82,921,535 (GRCm39) E406G possibly damaging Het
Glra1 A T 11: 55,405,715 (GRCm39) M425K possibly damaging Het
Gm8214 C T 1: 183,414,129 (GRCm39) noncoding transcript Het
Kdm3b A G 18: 34,926,067 (GRCm39) E69G probably damaging Het
Kntc1 T A 5: 123,895,877 (GRCm39) V89E probably damaging Het
L3mbtl3 T A 10: 26,206,083 (GRCm39) N361I unknown Het
Macrod2 A G 2: 142,226,250 (GRCm39) N457S probably damaging Het
Mal C A 2: 127,482,234 (GRCm39) M56I probably damaging Het
Mfsd5 C T 15: 102,189,882 (GRCm39) T418M probably benign Het
Mmaa C A 8: 79,994,600 (GRCm39) R402L probably benign Het
Myo15a T C 11: 60,393,115 (GRCm39) probably benign Het
Nme1 A G 11: 93,850,317 (GRCm39) S122P possibly damaging Het
Nxt1 A G 2: 148,517,316 (GRCm39) E19G probably damaging Het
Nynrin A T 14: 56,107,874 (GRCm39) T994S probably benign Het
Orc2 T G 1: 58,536,551 (GRCm39) E56D probably benign Het
Orc2 T C 1: 58,536,552 (GRCm39) E56G probably benign Het
Pid1 G A 1: 84,016,026 (GRCm39) T113I probably damaging Het
Plcg2 G A 8: 118,340,900 (GRCm39) probably benign Het
Rad50 A G 11: 53,597,848 (GRCm39) V12A probably damaging Het
Serpinb9c C T 13: 33,335,862 (GRCm39) V197I probably benign Het
Sfxn2 A T 19: 46,574,212 (GRCm39) N134I probably damaging Het
Spen T C 4: 141,244,424 (GRCm39) R204G unknown Het
Strip2 A G 6: 29,939,166 (GRCm39) probably benign Het
Tas2r135 A T 6: 42,383,078 (GRCm39) I206L probably benign Het
Tmem243 A G 5: 9,151,348 (GRCm39) T11A probably damaging Het
Tmprss11c A G 5: 86,379,666 (GRCm39) V401A probably damaging Het
Trim50 T A 5: 135,392,808 (GRCm39) I241N probably damaging Het
Ttn A C 2: 76,781,864 (GRCm39) S1015A possibly damaging Het
Wee1 T C 7: 109,741,242 (GRCm39) S622P probably benign Het
Other mutations in 2310022B05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02141:2310022B05Rik APN 8 125,364,645 (GRCm39) utr 3 prime probably benign
R0245:2310022B05Rik UTSW 8 125,378,168 (GRCm39) splice site probably benign
R2038:2310022B05Rik UTSW 8 125,389,762 (GRCm39) missense probably damaging 1.00
R2157:2310022B05Rik UTSW 8 125,378,168 (GRCm39) splice site probably benign
R4652:2310022B05Rik UTSW 8 125,366,350 (GRCm39) missense probably damaging 1.00
R4771:2310022B05Rik UTSW 8 125,366,300 (GRCm39) missense probably benign 0.01
R4867:2310022B05Rik UTSW 8 125,366,099 (GRCm39) missense probably damaging 1.00
R6018:2310022B05Rik UTSW 8 125,365,853 (GRCm39) missense probably benign 0.00
R6602:2310022B05Rik UTSW 8 125,365,993 (GRCm39) missense probably damaging 0.98
R6849:2310022B05Rik UTSW 8 125,366,261 (GRCm39) missense probably damaging 0.99
R7924:2310022B05Rik UTSW 8 125,390,051 (GRCm39) start gained probably benign
R8759:2310022B05Rik UTSW 8 125,365,916 (GRCm39) missense probably benign 0.02
R9778:2310022B05Rik UTSW 8 125,366,098 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07