Incidental Mutation 'IGL02897:1700093K21Rik'
ID363449
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700093K21Rik
Ensembl Gene ENSMUSG00000020286
Gene NameRIKEN cDNA 1700093K21 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02897
Quality Score
Status
Chromosome11
Chromosomal Location23516203-23521155 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 23517308 bp
ZygosityHeterozygous
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]
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: 80,001,592 F437L probably damaging Het
Abi2 T C 1: 60,448,194 V134A probably damaging Het
Ablim2 T C 5: 35,833,126 I75T probably damaging Het
Aldh1a3 A G 7: 66,427,327 V29A probably benign Het
Bptf T C 11: 107,047,121 K2715E probably damaging Het
Cd163 A T 6: 124,325,527 S1017C probably damaging Het
Cdc14b T C 13: 64,247,253 I76V probably benign Het
Cers6 T A 2: 68,934,533 C63* probably null Het
Chd9 T C 8: 90,933,868 probably benign Het
Col19a1 T C 1: 24,534,098 N198D unknown Het
Cse1l T C 2: 166,919,708 C61R possibly damaging Het
Cubn T C 2: 13,318,312 T2815A possibly damaging Het
Cyp19a1 G T 9: 54,166,911 T453K possibly damaging Het
Dlg1 G T 16: 31,771,856 probably null Het
Dpp7 T C 2: 25,353,672 Y339C probably damaging Het
Dtl T C 1: 191,541,544 probably benign Het
Gm5591 T C 7: 38,520,042 E469G probably damaging Het
Ing3 T A 6: 21,969,326 V202E probably benign Het
Inpp5j A G 11: 3,500,619 L578P probably damaging Het
Irak4 A G 15: 94,553,991 N155S probably benign Het
Kif2b A T 11: 91,576,219 S413T probably damaging Het
L3mbtl1 A T 2: 162,965,772 Y490F probably damaging Het
Med17 T G 9: 15,267,534 D447A probably damaging Het
Med26 T C 8: 72,496,521 T245A probably benign Het
Nlrc3 A T 16: 3,964,074 S490R possibly damaging Het
Nme5 A G 18: 34,569,903 probably benign Het
Olfr611 T C 7: 103,518,130 R85G probably benign Het
Rnf10 G T 5: 115,248,641 Q530K probably benign Het
Robo3 A T 9: 37,427,502 Y281* probably null Het
Sclt1 T C 3: 41,675,387 I330V probably benign Het
Smim14 A T 5: 65,450,396 probably benign Het
Trank1 T G 9: 111,367,517 H1536Q probably damaging Het
Tspan18 A G 2: 93,220,173 L35P possibly damaging Het
Ubr4 G A 4: 139,472,508 V4568M probably damaging Het
Vmn1r63 A G 7: 5,802,745 V296A possibly damaging Het
Other mutations in 1700093K21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:1700093K21Rik APN 11 23517213 missense probably null 1.00
R1155:1700093K21Rik UTSW 11 23517270 missense possibly damaging 0.95
R1677:1700093K21Rik UTSW 11 23517357 missense probably benign 0.16
R3983:1700093K21Rik UTSW 11 23517220 missense possibly damaging 0.87
R5485:1700093K21Rik UTSW 11 23517378 missense probably benign 0.05
R5589:1700093K21Rik UTSW 11 23518066 missense probably benign 0.25
R5678:1700093K21Rik UTSW 11 23516529 missense probably damaging 1.00
R5783:1700093K21Rik UTSW 11 23518787 missense probably damaging 0.99
R5996:1700093K21Rik UTSW 11 23518928 start codon destroyed probably null 0.53
R6072:1700093K21Rik UTSW 11 23517357 missense probably benign 0.16
R6520:1700093K21Rik UTSW 11 23517285 missense possibly damaging 0.63
R6930:1700093K21Rik UTSW 11 23516563 missense probably benign 0.03
R7432:1700093K21Rik UTSW 11 23518839 missense probably benign 0.07
R7558:1700093K21Rik UTSW 11 23516285 utr 3 prime probably null
R8077:1700093K21Rik UTSW 11 23517237 missense probably benign
Z1177:1700093K21Rik UTSW 11 23518144 critical splice acceptor site probably null
Posted On2015-12-18