Incidental Mutation 'IGL03156:1700017D01Rik'
ID411283
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700017D01Rik
Ensembl Gene ENSMUSG00000024729
Gene NameRIKEN cDNA 1700017D01 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL03156
Quality Score
Status
Chromosome19
Chromosomal Location11096816-11130876 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 11105750 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 102 (I102K)
Ref Sequence ENSEMBL: ENSMUSP00000025635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025635]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025635
AA Change: I102K

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025635
Gene: ENSMUSG00000024729
AA Change: I102K

DomainStartEndE-ValueType
Pfam:CD20 18 118 2.4e-8 PFAM
transmembrane domain 130 152 N/A INTRINSIC
low complexity region 169 185 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188756
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik T C 2: 111,200,412 D12G possibly damaging Het
Abca16 T C 7: 120,423,851 I70T possibly damaging Het
Acot11 A G 4: 106,754,136 Y365H probably damaging Het
Bdp1 A G 13: 100,061,036 V947A probably benign Het
Ccdc159 G T 9: 21,929,475 V113L probably benign Het
Cep350 T C 1: 155,858,042 D3035G probably damaging Het
Clca1 T A 3: 145,013,911 I433F probably damaging Het
Cntn5 T C 9: 9,673,877 Y740C probably damaging Het
Dennd5a C A 7: 109,919,255 probably benign Het
Des G A 1: 75,362,996 E333K probably damaging Het
Dnah7a T C 1: 53,605,824 R1018G probably damaging Het
Eif2b2 G T 12: 85,219,721 A54S probably damaging Het
Gm7276 C T 18: 77,185,603 probably benign Het
Hsbp1l1 A G 18: 80,235,519 probably benign Het
Iars G A 13: 49,703,179 G303S possibly damaging Het
Il18r1 A G 1: 40,498,368 E431G possibly damaging Het
Lrrc14b A G 13: 74,363,904 V19A probably benign Het
Map1lc3a T A 2: 155,277,009 I31N probably damaging Het
Obscn T C 11: 59,054,896 Y4163C probably damaging Het
Olfr478 T A 7: 108,032,351 probably benign Het
Pcsk1 A G 13: 75,131,951 T632A probably benign Het
Ppp1r15a A G 7: 45,525,171 L71P possibly damaging Het
Ptgs2 T G 1: 150,105,477 F504V probably damaging Het
Rimbp2 T G 5: 128,771,757 R908S probably damaging Het
Rnh1 T C 7: 141,163,183 N268S probably damaging Het
Sap30l T C 11: 57,806,168 probably null Het
Scara3 C T 14: 65,931,154 R338H probably damaging Het
Serpina12 T C 12: 104,037,899 Y158C probably damaging Het
Tmem237 A T 1: 59,109,127 D148E probably damaging Het
Trmt13 T C 3: 116,585,802 D232G probably benign Het
Zan T A 5: 137,463,939 T993S unknown Het
Zfp236 G A 18: 82,680,702 L85F probably damaging Het
Zfp352 G A 4: 90,224,087 D155N possibly damaging Het
Zfp867 T C 11: 59,465,008 probably benign Het
Zmiz2 T C 11: 6,399,536 F399L probably damaging Het
Other mutations in 1700017D01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02142:1700017D01Rik APN 19 11110331 nonsense probably null
IGL02182:1700017D01Rik APN 19 11097072 splice site probably benign
R0189:1700017D01Rik UTSW 19 11096947 missense possibly damaging 0.46
R0218:1700017D01Rik UTSW 19 11116437 nonsense probably null
R0464:1700017D01Rik UTSW 19 11112437 missense probably damaging 1.00
R0617:1700017D01Rik UTSW 19 11112400 missense probably damaging 1.00
R1171:1700017D01Rik UTSW 19 11112377 missense probably damaging 0.97
R2341:1700017D01Rik UTSW 19 11105793 missense probably benign
R5099:1700017D01Rik UTSW 19 11112461 critical splice acceptor site probably null
R5330:1700017D01Rik UTSW 19 11091858 unclassified probably benign
R5331:1700017D01Rik UTSW 19 11091858 unclassified probably benign
R5341:1700017D01Rik UTSW 19 11110381 intron probably benign
R6109:1700017D01Rik UTSW 19 11101912 missense possibly damaging 0.66
R6177:1700017D01Rik UTSW 19 11105750 missense possibly damaging 0.53
R6970:1700017D01Rik UTSW 19 11112314 critical splice donor site probably null
R7038:1700017D01Rik UTSW 19 11110311 missense probably benign
R7584:1700017D01Rik UTSW 19 11110361 missense possibly damaging 0.94
R7752:1700017D01Rik UTSW 19 11101860 missense probably benign 0.02
R7854:1700017D01Rik UTSW 19 11112377 missense probably benign 0.01
R8261:1700017D01Rik UTSW 19 11110343 missense probably damaging 0.97
X0019:1700017D01Rik UTSW 19 11105792 missense probably benign 0.00
Posted On2016-08-02