Incidental Mutation 'IGL00232:1700057G04Rik'
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ID45404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700057G04Rik
Ensembl Gene ENSMUSG00000074139
Gene NameRIKEN cDNA 1700057G04 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL00232
Quality Score
Status
Chromosome9
Chromosomal Location92309377-92357876 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 92350952 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 43 (R43*)
Ref Sequence ENSEMBL: ENSMUSP00000096077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098477] [ENSMUST00000185580]
Predicted Effect probably null
Transcript: ENSMUST00000098477
AA Change: R43*
SMART Domains Protein: ENSMUSP00000096077
Gene: ENSMUSG00000074139
AA Change: R43*

DomainStartEndE-ValueType
Pfam:Scramblase 1 222 6.3e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134712
Predicted Effect probably benign
Transcript: ENSMUST00000135182
Predicted Effect probably benign
Transcript: ENSMUST00000185580
SMART Domains Protein: ENSMUSP00000139734
Gene: ENSMUSG00000074139

DomainStartEndE-ValueType
Pfam:Scramblase 1 146 8.4e-57 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C A 15: 82,066,380 Q1493K probably benign Het
Anapc1 A T 2: 128,645,130 probably benign Het
Armc8 T C 9: 99,505,734 probably null Het
Asz1 T G 6: 18,055,542 probably null Het
Atp6v0a4 G A 6: 38,092,790 R56* probably null Het
Bend6 T C 1: 33,883,538 D8G possibly damaging Het
Ccdc171 T A 4: 83,682,324 C870* probably null Het
Cd163 A G 6: 124,329,101 probably benign Het
Chd2 A G 7: 73,468,577 S1098P probably damaging Het
Col6a5 T G 9: 105,882,683 D1946A probably damaging Het
Gm6576 T A 15: 27,025,798 noncoding transcript Het
Gypa T G 8: 80,504,779 probably benign Het
Ighv9-3 T C 12: 114,141,071 probably benign Het
Itgb1 T G 8: 128,713,918 probably benign Het
Kctd15 A T 7: 34,650,745 probably null Het
Krtap13 A C 16: 88,751,535 S22A possibly damaging Het
Masp1 C T 16: 23,458,091 E555K possibly damaging Het
Med13l T A 5: 118,724,071 S360T probably damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mfsd13a A G 19: 46,366,519 Y45C probably damaging Het
Neb T C 2: 52,235,556 D3662G possibly damaging Het
Nkx6-1 T C 5: 101,659,505 D337G possibly damaging Het
Nlrc5 T C 8: 94,484,623 probably null Het
Palb2 T C 7: 122,121,064 H468R probably damaging Het
Rai1 T G 11: 60,185,391 Y94D probably damaging Het
Slc27a3 A T 3: 90,385,441 Y605* probably null Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Trpm7 T C 2: 126,829,031 E677G possibly damaging Het
Tstd2 A T 4: 46,120,002 probably benign Het
Unc5c T C 3: 141,788,940 I412T probably damaging Het
Other mutations in 1700057G04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:1700057G04Rik APN 9 92347811 missense probably damaging 0.99
IGL02118:1700057G04Rik APN 9 92350958 nonsense probably null
R0815:1700057G04Rik UTSW 9 92351087 missense possibly damaging 0.87
R0863:1700057G04Rik UTSW 9 92351087 missense possibly damaging 0.87
R1400:1700057G04Rik UTSW 9 92351127 missense probably benign 0.00
R3689:1700057G04Rik UTSW 9 92352620 missense probably damaging 1.00
R4280:1700057G04Rik UTSW 9 92343648 missense possibly damaging 0.92
R4789:1700057G04Rik UTSW 9 92351031 missense probably damaging 0.98
R4810:1700057G04Rik UTSW 9 92354630 missense probably damaging 1.00
R4880:1700057G04Rik UTSW 9 92354612 missense probably damaging 1.00
R4987:1700057G04Rik UTSW 9 92354584 missense probably damaging 1.00
R5427:1700057G04Rik UTSW 9 92352596 missense probably benign 0.43
R5602:1700057G04Rik UTSW 9 92352668 missense possibly damaging 0.88
R5702:1700057G04Rik UTSW 9 92343688 splice site probably null
Posted On2013-06-11