Incidental Mutation 'IGL02897:1700093K21Rik'
ID 363449
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700093K21Rik
Ensembl Gene ENSMUSG00000020286
Gene Name RIKEN cDNA 1700093K21 gene
Synonyms b2b3025Clo
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL02897
Quality Score
Status
Chromosome 11
Chromosomal Location 23466203-23471155 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23467308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 108 (E108D)
Ref Sequence ENSEMBL: ENSMUSP00000131204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020527] [ENSMUST00000140122] [ENSMUST00000156629] [ENSMUST00000169264]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020527
AA Change: E108D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020527
Gene: ENSMUSG00000020286
AA Change: E108D

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Pfam:DUF4642 50 196 1.1e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140122
Predicted Effect probably benign
Transcript: ENSMUST00000156629
Predicted Effect probably benign
Transcript: ENSMUST00000169264
AA Change: E108D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131204
Gene: ENSMUSG00000020286
AA Change: E108D

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Pfam:DUF4642 50 196 1.3e-67 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit congenital heart defects associated with heterotaxy, as well as thoracic and abdominal visceral organ situs anomalies, and misaligned sternal vertebrae. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,837,426 (GRCm39) F437L probably damaging Het
Abi2 T C 1: 60,487,353 (GRCm39) V134A probably damaging Het
Ablim2 T C 5: 35,990,470 (GRCm39) I75T probably damaging Het
Aldh1a3 A G 7: 66,077,075 (GRCm39) V29A probably benign Het
Bptf T C 11: 106,937,947 (GRCm39) K2715E probably damaging Het
Cd163 A T 6: 124,302,486 (GRCm39) S1017C probably damaging Het
Cdc14b T C 13: 64,395,067 (GRCm39) I76V probably benign Het
Cers6 T A 2: 68,764,877 (GRCm39) C63* probably null Het
Chd9 T C 8: 91,660,496 (GRCm39) probably benign Het
Col19a1 T C 1: 24,573,179 (GRCm39) N198D unknown Het
Cse1l T C 2: 166,761,628 (GRCm39) C61R possibly damaging Het
Cubn T C 2: 13,323,123 (GRCm39) T2815A possibly damaging Het
Cyp19a1 G T 9: 54,074,195 (GRCm39) T453K possibly damaging Het
Dlg1 G T 16: 31,590,674 (GRCm39) probably null Het
Dpp7 T C 2: 25,243,684 (GRCm39) Y339C probably damaging Het
Dtl T C 1: 191,273,656 (GRCm39) probably benign Het
Gm5591 T C 7: 38,219,466 (GRCm39) E469G probably damaging Het
Ing3 T A 6: 21,969,325 (GRCm39) V202E probably benign Het
Inpp5j A G 11: 3,450,619 (GRCm39) L578P probably damaging Het
Irak4 A G 15: 94,451,872 (GRCm39) N155S probably benign Het
Kif2b A T 11: 91,467,045 (GRCm39) S413T probably damaging Het
L3mbtl1 A T 2: 162,807,692 (GRCm39) Y490F probably damaging Het
Med17 T G 9: 15,178,830 (GRCm39) D447A probably damaging Het
Med26 T C 8: 73,250,365 (GRCm39) T245A probably benign Het
Nlrc3 A T 16: 3,781,938 (GRCm39) S490R possibly damaging Het
Nme5 A G 18: 34,702,956 (GRCm39) probably benign Het
Or51aa5 T C 7: 103,167,337 (GRCm39) R85G probably benign Het
Rnf10 G T 5: 115,386,700 (GRCm39) Q530K probably benign Het
Robo3 A T 9: 37,338,798 (GRCm39) Y281* probably null Het
Sclt1 T C 3: 41,629,822 (GRCm39) I330V probably benign Het
Smim14 A T 5: 65,607,739 (GRCm39) probably benign Het
Trank1 T G 9: 111,196,585 (GRCm39) H1536Q probably damaging Het
Tspan18 A G 2: 93,050,518 (GRCm39) L35P possibly damaging Het
Ubr4 G A 4: 139,199,819 (GRCm39) V4568M probably damaging Het
Vmn1r63 A G 7: 5,805,744 (GRCm39) V296A possibly damaging Het
Other mutations in 1700093K21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:1700093K21Rik APN 11 23,467,213 (GRCm39) missense probably null 1.00
R1155:1700093K21Rik UTSW 11 23,467,270 (GRCm39) missense possibly damaging 0.95
R1677:1700093K21Rik UTSW 11 23,467,357 (GRCm39) missense probably benign 0.16
R3983:1700093K21Rik UTSW 11 23,467,220 (GRCm39) missense possibly damaging 0.87
R5485:1700093K21Rik UTSW 11 23,467,378 (GRCm39) missense probably benign 0.05
R5589:1700093K21Rik UTSW 11 23,468,066 (GRCm39) missense probably benign 0.25
R5678:1700093K21Rik UTSW 11 23,466,529 (GRCm39) missense probably damaging 1.00
R5783:1700093K21Rik UTSW 11 23,468,787 (GRCm39) missense probably damaging 0.99
R5996:1700093K21Rik UTSW 11 23,468,928 (GRCm39) start codon destroyed probably null 0.53
R6072:1700093K21Rik UTSW 11 23,467,357 (GRCm39) missense probably benign 0.16
R6520:1700093K21Rik UTSW 11 23,467,285 (GRCm39) missense possibly damaging 0.63
R6930:1700093K21Rik UTSW 11 23,466,563 (GRCm39) missense probably benign 0.03
R7432:1700093K21Rik UTSW 11 23,468,839 (GRCm39) missense probably benign 0.07
R7558:1700093K21Rik UTSW 11 23,466,285 (GRCm39) splice site probably null
R8077:1700093K21Rik UTSW 11 23,467,237 (GRCm39) missense probably benign
R9688:1700093K21Rik UTSW 11 23,469,067 (GRCm39) critical splice donor site probably null
Z1177:1700093K21Rik UTSW 11 23,468,144 (GRCm39) critical splice acceptor site probably null
Posted On 2015-12-18