Incidental Mutation 'IGL01653:4933421I07Rik'
ID 102872
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933421I07Rik
Ensembl Gene ENSMUSG00000030463
Gene Name RIKEN cDNA 4933421I07 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL01653
Quality Score
Status
Chromosome 7
Chromosomal Location 42445462-42448120 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42446974 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 119 (D119G)
Ref Sequence ENSEMBL: ENSMUSP00000032648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032648]
AlphaFold Q9D420
Predicted Effect probably damaging
Transcript: ENSMUST00000032648
AA Change: D119G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032648
Gene: ENSMUSG00000030463
AA Change: D119G

DomainStartEndE-ValueType
Pfam:RasGEF_N 68 160 2.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206593
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430403G16Rik A C 5: 109,677,316 Y89* probably null Het
Apol7c A G 15: 77,526,300 C149R probably damaging Het
Arfgef1 G A 1: 10,159,908 R1235* probably null Het
Bpifb4 A G 2: 153,944,783 D285G probably damaging Het
Cep192 T A 18: 67,852,972 H1682Q possibly damaging Het
Cerk G T 15: 86,149,351 Y290* probably null Het
Cyld A T 8: 88,741,370 I544F probably damaging Het
Dcp1a T C 14: 30,505,571 S134P possibly damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ephb4 A G 5: 137,365,741 probably benign Het
Fcgr3 A T 1: 171,059,280 L25Q probably damaging Het
Heatr3 A G 8: 88,144,617 I83V probably benign Het
Hormad1 T A 3: 95,578,297 N265K possibly damaging Het
Kpna1 A G 16: 36,020,192 T201A probably benign Het
Krt6b T A 15: 101,679,114 T182S probably damaging Het
Macc1 A G 12: 119,450,353 K755E probably damaging Het
Med12l C T 3: 59,261,893 T1568M probably damaging Het
Muc4 G T 16: 32,761,348 probably null Het
Myt1l T C 12: 29,910,771 S1028P unknown Het
Nhlrc2 C T 19: 56,570,850 R256C probably benign Het
Olfr1230 T A 2: 89,297,127 T48S probably benign Het
Olfr1441 G A 19: 12,422,372 R21H probably benign Het
Pfkfb4 G A 9: 108,999,134 R79H probably damaging Het
Piezo2 T C 18: 63,182,833 probably benign Het
Pramel5 C T 4: 144,273,859 R49H probably benign Het
Ralgapb T A 2: 158,462,159 S613T possibly damaging Het
Ryr1 T C 7: 29,078,597 E2158G probably damaging Het
Scgb2b19 T A 7: 33,279,728 Y43F probably damaging Het
Slc17a6 A G 7: 51,668,022 T468A possibly damaging Het
Slc36a1 A G 11: 55,228,321 D374G possibly damaging Het
Wdtc1 T C 4: 133,295,232 D601G probably damaging Het
Other mutations in 4933421I07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:4933421I07Rik APN 7 42447699 missense probably benign
IGL01918:4933421I07Rik APN 7 42447674 missense probably benign 0.39
IGL02514:4933421I07Rik APN 7 42447557 missense probably damaging 0.99
R1330:4933421I07Rik UTSW 7 42447594 missense probably benign 0.19
R2219:4933421I07Rik UTSW 7 42446345 missense probably damaging 1.00
R4779:4933421I07Rik UTSW 7 42448031 missense possibly damaging 0.92
R4952:4933421I07Rik UTSW 7 42447659 missense possibly damaging 0.59
R6026:4933421I07Rik UTSW 7 42446284 missense probably benign 0.06
R6141:4933421I07Rik UTSW 7 42448059 missense probably damaging 1.00
R6332:4933421I07Rik UTSW 7 42446243 missense possibly damaging 0.60
R6892:4933421I07Rik UTSW 7 42446407 missense probably benign 0.35
R7284:4933421I07Rik UTSW 7 42447980 missense probably damaging 1.00
R8684:4933421I07Rik UTSW 7 42447989 missense probably benign 0.07
Posted On 2014-01-21