Incidental Mutation 'IGL01135:5730507C01Rik'
ID52491
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 5730507C01Rik
Ensembl Gene ENSMUSG00000073197
Gene NameRIKEN cDNA 5730507C01 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.145) question?
Stock #IGL01135
Quality Score
Status
Chromosome12
Chromosomal Location18514510-18535254 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 18533374 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 145 (R145H)
Ref Sequence ENSEMBL: ENSMUSP00000137525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063216] [ENSMUST00000177778]
Predicted Effect probably benign
Transcript: ENSMUST00000063216
AA Change: R121H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099112
Gene: ENSMUSG00000073197
AA Change: R121H

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
KRAB 45 107 1.74e-14 SMART
ZnF_C2H2 144 166 5.54e1 SMART
ZnF_C2H2 172 194 8.75e0 SMART
ZnF_C2H2 200 222 2.43e-4 SMART
ZnF_C2H2 228 250 2.02e-1 SMART
ZnF_C2H2 256 278 1.4e-4 SMART
ZnF_C2H2 284 306 1.84e-4 SMART
ZnF_C2H2 312 334 6.88e-4 SMART
ZnF_C2H2 340 362 9.58e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000177778
AA Change: R145H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137525
Gene: ENSMUSG00000073197
AA Change: R145H

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
KRAB 69 131 1.74e-14 SMART
ZnF_C2H2 168 190 5.54e1 SMART
ZnF_C2H2 196 218 8.75e0 SMART
ZnF_C2H2 224 246 2.43e-4 SMART
ZnF_C2H2 252 274 2.02e-1 SMART
ZnF_C2H2 280 302 1.4e-4 SMART
ZnF_C2H2 308 330 1.84e-4 SMART
ZnF_C2H2 336 358 6.88e-4 SMART
ZnF_C2H2 364 386 9.58e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Acox3 T A 5: 35,588,752 V93E probably benign Het
Ankar T C 1: 72,665,219 N848S probably benign Het
Blzf1 A G 1: 164,303,930 probably benign Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Ckmt1 A C 2: 121,361,150 D267A probably damaging Het
Dtl G T 1: 191,548,330 T364K probably damaging Het
Fam46a A G 9: 85,326,599 V57A probably damaging Het
Fat1 T A 8: 45,024,840 F2308I probably damaging Het
Fbxo41 A T 6: 85,477,908 S673T probably benign Het
Flnb G A 14: 7,909,736 V1397I probably benign Het
Gdi2 A G 13: 3,548,855 probably benign Het
Gm5155 A T 7: 17,902,471 noncoding transcript Het
Grik3 C T 4: 125,632,415 T147I probably benign Het
Htr1a T C 13: 105,445,284 V344A possibly damaging Het
Isg20l2 A T 3: 87,931,761 D93V probably damaging Het
Kcnt2 T C 1: 140,354,555 probably null Het
Mfsd4b3 A G 10: 39,948,072 M64T probably benign Het
Nox3 T A 17: 3,696,252 probably benign Het
Olfr693 C T 7: 106,678,193 A98T probably benign Het
Pikfyve T A 1: 65,251,635 N1204K probably damaging Het
Pou4f3 C T 18: 42,395,966 Q325* probably null Het
Rap1a T A 3: 105,732,035 T103S probably benign Het
Rfc4 G A 16: 23,115,776 R165C probably damaging Het
Smtnl1 A G 2: 84,818,887 S8P probably benign Het
Syt17 C T 7: 118,382,047 G351S possibly damaging Het
Tcf20 T A 15: 82,853,900 M1117L probably benign Het
Tgfbr3 A T 5: 107,215,028 H39Q probably damaging Het
Trdmt1 T C 2: 13,521,260 probably null Het
Twf2 A G 9: 106,212,828 I127V probably benign Het
Unc13c A G 9: 73,484,893 V2059A probably damaging Het
Other mutations in 5730507C01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0419:5730507C01Rik UTSW 12 18533423 missense possibly damaging 0.53
R1662:5730507C01Rik UTSW 12 18531966 missense possibly damaging 0.53
R1851:5730507C01Rik UTSW 12 18533686 missense possibly damaging 0.95
R1902:5730507C01Rik UTSW 12 18534003 nonsense probably null
R2876:5730507C01Rik UTSW 12 18533643 missense possibly damaging 0.60
R3861:5730507C01Rik UTSW 12 18533410 missense probably benign 0.33
R3934:5730507C01Rik UTSW 12 18534081 missense possibly damaging 0.95
R5774:5730507C01Rik UTSW 12 18531667 missense probably damaging 1.00
R6259:5730507C01Rik UTSW 12 18534119 missense probably benign 0.44
R7647:5730507C01Rik UTSW 12 18514802 missense possibly damaging 0.86
R8053:5730507C01Rik UTSW 12 18533727 nonsense probably null
Posted On2013-06-21