Incidental Mutation 'IGL01923:C130026I21Rik'
ID279127
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C130026I21Rik
Ensembl Gene ENSMUSG00000052477
Gene NameRIKEN cDNA C130026I21 gene
SynonymsOTTMUSG00000029174
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.255) question?
Stock #IGL01923
Quality Score
Status
Chromosome1
Chromosomal Location84992690-85270566 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 85254186 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064341] [ENSMUST00000093506] [ENSMUST00000159582] [ENSMUST00000161267] [ENSMUST00000162421]
Predicted Effect probably benign
Transcript: ENSMUST00000064341
SMART Domains Protein: ENSMUSP00000066587
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 23 125 2.8e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093506
SMART Domains Protein: ENSMUSP00000091224
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 24 122 1.1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159582
SMART Domains Protein: ENSMUSP00000125160
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 23 125 6.1e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161267
SMART Domains Protein: ENSMUSP00000124435
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 23 119 1.8e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162347
Predicted Effect probably benign
Transcript: ENSMUST00000162421
SMART Domains Protein: ENSMUSP00000125215
Gene: ENSMUSG00000052477

DomainStartEndE-ValueType
Pfam:Sp100 40 135 2.2e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166777
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T A 5: 129,178,079 S597T possibly damaging Het
Btnl9 T C 11: 49,180,582 D138G probably benign Het
Cep135 T A 5: 76,640,982 *1141K probably null Het
Ctnnd2 A T 15: 30,480,828 Q74L probably damaging Het
Cyp2j13 A T 4: 96,062,057 W236R probably benign Het
Dixdc1 A T 9: 50,695,503 I271N possibly damaging Het
Dlec1 A G 9: 119,128,114 probably null Het
Dnah9 C A 11: 66,125,235 probably benign Het
Dopey1 A T 9: 86,522,867 Y275F probably damaging Het
Dysf T A 6: 84,210,829 *2105R probably null Het
Eif4a1 A T 11: 69,672,303 D25E possibly damaging Het
Fras1 T A 5: 96,735,280 I2557N probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm12253 G T 11: 58,434,901 probably null Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hsd17b7 A G 1: 169,959,466 V254A probably benign Het
Kif21a T A 15: 90,956,430 D143V probably damaging Het
Lrrc9 T C 12: 72,510,412 V1417A possibly damaging Het
Macf1 C T 4: 123,380,444 A4926T possibly damaging Het
Mef2a A C 7: 67,264,872 S91R probably damaging Het
Myh7 A G 14: 54,985,459 probably null Het
Olfr808 T A 10: 129,768,104 F203I probably benign Het
Pbx2 A G 17: 34,594,050 D160G probably damaging Het
Pcdhb17 T C 18: 37,486,737 F527L probably benign Het
Ppm1b T C 17: 84,994,061 L123P probably damaging Het
Ppm1k T A 6: 57,522,828 K154N probably benign Het
Ppp2r1a T G 17: 20,965,469 *590G probably null Het
Raver1 A T 9: 21,079,240 L589Q probably damaging Het
Rrbp1 A G 2: 143,990,161 S29P probably damaging Het
Senp5 A G 16: 31,965,816 Y673H probably damaging Het
Serpina3j T A 12: 104,315,214 probably benign Het
Serpinc1 A G 1: 160,989,546 E70G probably damaging Het
Stag3 A G 5: 138,289,230 Q139R probably damaging Het
Sva T A 6: 42,042,170 H91Q probably benign Het
Tmem263 C T 10: 85,114,431 Q29* probably null Het
Tpp1 T C 7: 105,751,650 N57D probably benign Het
Vmn2r27 T A 6: 124,200,525 I507L probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr11 A T 7: 129,632,322 probably null Het
Zfp236 C T 18: 82,682,219 E42K probably damaging Het
Other mutations in C130026I21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01866:C130026I21Rik APN 1 85254186 intron probably benign
IGL01876:C130026I21Rik APN 1 85254186 intron probably benign
IGL01880:C130026I21Rik APN 1 85254186 intron probably benign
IGL01883:C130026I21Rik APN 1 85254186 intron probably benign
IGL01886:C130026I21Rik APN 1 85254186 intron probably benign
IGL01888:C130026I21Rik APN 1 85254186 intron probably benign
IGL01893:C130026I21Rik APN 1 85254186 intron probably benign
IGL01898:C130026I21Rik APN 1 85254186 intron probably benign
IGL01906:C130026I21Rik APN 1 85254186 intron probably benign
IGL01908:C130026I21Rik APN 1 85254186 intron probably benign
IGL01909:C130026I21Rik APN 1 85254186 intron probably benign
IGL01916:C130026I21Rik APN 1 85254186 intron probably benign
IGL01918:C130026I21Rik APN 1 85254186 intron probably benign
IGL01920:C130026I21Rik APN 1 85254186 intron probably benign
IGL01928:C130026I21Rik APN 1 85254186 intron probably benign
IGL01933:C130026I21Rik APN 1 85254186 intron probably benign
IGL01945:C130026I21Rik APN 1 85254186 intron probably benign
IGL01949:C130026I21Rik APN 1 85254186 intron probably benign
IGL01951:C130026I21Rik APN 1 85254186 intron probably benign
IGL01952:C130026I21Rik APN 1 85254186 intron probably benign
PIT4131001:C130026I21Rik UTSW 1 85245674 intron probably benign
PIT4142001:C130026I21Rik UTSW 1 85245674 intron probably benign
R0067:C130026I21Rik UTSW 1 85270052 missense probably benign 0.00
R0367:C130026I21Rik UTSW 1 85270103 start gained probably benign
R0389:C130026I21Rik UTSW 1 85270052 missense probably benign 0.00
R1284:C130026I21Rik UTSW 1 85270055 missense probably damaging 0.98
R1620:C130026I21Rik UTSW 1 85254186 intron probably benign
R1622:C130026I21Rik UTSW 1 85254186 intron probably benign
R1671:C130026I21Rik UTSW 1 85257385 critical splice donor site probably null
R3115:C130026I21Rik UTSW 1 85257385 intron probably benign
R4120:C130026I21Rik UTSW 1 85259821 missense possibly damaging 0.82
R4223:C130026I21Rik UTSW 1 85112557 missense probably damaging 0.98
R4947:C130026I21Rik UTSW 1 85112482 missense probably damaging 1.00
R4996:C130026I21Rik UTSW 1 85247094 missense probably benign 0.12
R5152:C130026I21Rik UTSW 1 85261860 missense probably benign 0.04
R6614:C130026I21Rik UTSW 1 85202060 intron probably null
Posted On2015-04-16