Incidental Mutation 'IGL02704:Onecut1'
ID304264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Onecut1
Ensembl Gene ENSMUSG00000043013
Gene Nameone cut domain, family member 1
SynonymsHNF6, Oc1, OC-1, D9Ertd423e, Hfh12, Hnf6
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.817) question?
Stock #IGL02704
Quality Score
Status
Chromosome9
Chromosomal Location74861921-74891781 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 74863030 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 245 (N245S)
Ref Sequence ENSEMBL: ENSMUSP00000058020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056006]
PDB Structure
Solution structure of HNF-6 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000056006
AA Change: N245S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058020
Gene: ENSMUSG00000043013
AA Change: N245S

DomainStartEndE-ValueType
low complexity region 52 67 N/A INTRINSIC
low complexity region 100 114 N/A INTRINSIC
low complexity region 123 138 N/A INTRINSIC
low complexity region 174 189 N/A INTRINSIC
low complexity region 248 253 N/A INTRINSIC
CUT 284 369 2.04e-43 SMART
HOX 385 447 1.33e-13 SMART
low complexity region 448 460 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161862
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Cut homeobox family of transcription factors. Expression of the encoded protein is enriched in the liver, where it stimulates transcription of liver-expressed genes, and antagonizes glucocorticoid-stimulated gene transcription. This gene may influence a variety of cellular processes including glucose metabolism, cell cycle regulation, and it may also be associated with cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous mutation of this gene results in partial postnatal lethality, billiary tract, pancreas, and islet of Langerhans abnormalities, growth retardation, and glucose and insulin metabolism defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs G T 2: 93,842,926 P162Q probably damaging Het
Alb A G 5: 90,468,509 N291S possibly damaging Het
Ankar T C 1: 72,652,343 D935G possibly damaging Het
Atp13a5 A T 16: 29,251,328 C935* probably null Het
Bivm A T 1: 44,126,446 T19S probably benign Het
Ddah2 C A 17: 35,061,007 D158E possibly damaging Het
Dnah7b C T 1: 46,142,133 T1060I probably benign Het
Efhb T C 17: 53,426,269 T525A probably damaging Het
Exoc3 A G 13: 74,174,144 M604T probably benign Het
Frmpd1 T G 4: 45,285,082 I1301S possibly damaging Het
Gm5269 T C 1: 45,890,075 T2A probably benign Het
Hif3a T A 7: 17,050,761 probably benign Het
Hpgds A T 6: 65,123,637 L119* probably null Het
Iars A G 13: 49,721,100 D750G probably damaging Het
Ift43 T A 12: 86,161,177 D106E probably benign Het
Iqub T A 6: 24,505,910 probably benign Het
Lamb1 A G 12: 31,318,467 K1199E probably benign Het
Mast3 T A 8: 70,786,875 I395F probably damaging Het
Megf8 T C 7: 25,359,782 S2236P probably damaging Het
Met T A 6: 17,491,257 V6E possibly damaging Het
Muc5ac A T 7: 141,795,263 T479S possibly damaging Het
Myo7b T C 18: 31,966,961 T1623A probably benign Het
Neto1 T C 18: 86,473,823 L283P probably damaging Het
Olfr1104 T C 2: 87,022,277 Q89R probably benign Het
Olfr1287 A T 2: 111,449,147 E2D probably benign Het
Olfr720 T C 14: 14,175,483 I200V probably benign Het
Olfr917 G A 9: 38,665,767 P26S possibly damaging Het
Olfr954 T C 9: 39,462,283 V284A probably damaging Het
Pkd1l1 A G 11: 8,834,910 V1958A probably benign Het
Plb1 C T 5: 32,353,667 A1292V probably benign Het
Plekha5 A G 6: 140,543,866 E223G probably damaging Het
Pou1f1 A T 16: 65,529,799 Q121L possibly damaging Het
Rbm25 G A 12: 83,642,726 G47D probably damaging Het
Rif1 T A 2: 52,093,576 M577K probably damaging Het
Scn8a A G 15: 101,008,062 E712G possibly damaging Het
Snx24 A G 18: 53,327,437 N29S probably benign Het
Tmem217 A T 17: 29,526,558 V66D probably damaging Het
Ttn T G 2: 76,767,641 N19643H probably damaging Het
Uimc1 T C 13: 55,030,959 T646A probably benign Het
Other mutations in Onecut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01928:Onecut1 APN 9 74889533 missense possibly damaging 0.51
R1601:Onecut1 UTSW 9 74862691 missense probably benign 0.26
R5407:Onecut1 UTSW 9 74889456 missense probably damaging 1.00
R5468:Onecut1 UTSW 9 74863332 missense probably damaging 0.96
R5785:Onecut1 UTSW 9 74863392 missense probably damaging 1.00
R5828:Onecut1 UTSW 9 74862760 missense probably benign 0.05
R5928:Onecut1 UTSW 9 74862784 missense probably benign 0.00
R6426:Onecut1 UTSW 9 74862349 missense probably damaging 0.99
R6495:Onecut1 UTSW 9 74863215 missense probably damaging 1.00
R7506:Onecut1 UTSW 9 74863240 missense possibly damaging 0.73
X0004:Onecut1 UTSW 9 74862682 missense possibly damaging 0.71
Posted On2015-04-16