Incidental Mutation 'IGL01906:C130026I21Rik'
ID279069
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 #IGL01906
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,216,225 Q24L probably damaging Het
Adam1b A T 5: 121,501,475 N502K probably benign Het
Adam6a T A 12: 113,544,331 M108K probably benign Het
Akr1b10 A G 6: 34,387,811 K69R probably benign Het
Ap5b1 T A 19: 5,570,979 L809* probably null Het
Asxl3 A T 18: 22,522,281 H1116L probably benign Het
Birc6 A G 17: 74,638,358 T2794A probably damaging Het
Bst1 T C 5: 43,837,519 F248L probably damaging Het
Cep120 A T 18: 53,714,912 V625E probably benign Het
Cgnl1 T C 9: 71,724,567 M501V probably benign Het
Col19a1 T A 1: 24,317,429 D661V probably damaging Het
Copb2 A T 9: 98,580,330 E456V probably benign Het
Csk A G 9: 57,629,021 I201T probably damaging Het
Cttnbp2 G T 6: 18,378,376 S977* probably null Het
Ddr2 A G 1: 169,982,099 W770R probably damaging Het
Dnah7b T C 1: 46,175,453 I1126T probably damaging Het
Dusp27 A C 1: 166,099,523 L840R probably damaging Het
Ephb4 A T 5: 137,361,194 E342V probably damaging Het
Erc2 T A 14: 28,141,306 L496Q probably damaging Het
Faim2 G A 15: 99,514,433 T140I probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Haus3 A C 5: 34,168,323 probably benign Het
Hmcn1 T C 1: 150,667,887 T2846A probably benign Het
Mto1 T C 9: 78,464,931 V561A probably benign Het
Myb T C 10: 21,152,634 Y110C probably damaging Het
Olfr1280 T C 2: 111,315,901 C141R probably damaging Het
Plcd3 T C 11: 103,076,856 Y420C probably damaging Het
Plk4 G T 3: 40,810,381 M603I probably null Het
Scgb1b24 T C 7: 33,744,113 C66R probably damaging Het
Sec23a T C 12: 59,007,044 Y56C probably damaging Het
Setd1b C A 5: 123,157,667 D1099E unknown Het
Sh2d7 G A 9: 54,539,466 probably benign Het
Slc30a10 A T 1: 185,456,396 K221* probably null Het
Slc5a1 T C 5: 33,154,653 L463P probably damaging Het
Strc T C 2: 121,377,634 T419A probably benign Het
Ttc39a T C 4: 109,421,394 M82T probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13b T C 15: 35,639,847 probably benign 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
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
IGL01923: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