Incidental Mutation 'IGL01928:Onecut1'
ID 180349
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Onecut1
Ensembl Gene ENSMUSG00000043013
Gene Name one cut domain, family member 1
Synonyms Hfh12, Oc1, OC-1, D9Ertd423e, Hnf6, HNF6
Accession Numbers
Essential gene? Probably essential (E-score: 0.884) question?
Stock # IGL01928
Quality Score
Status
Chromosome 9
Chromosomal Location 74769203-74796930 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 74796815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 445 (Q445K)
Ref Sequence ENSEMBL: ENSMUSP00000058020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056006]
AlphaFold O08755
PDB Structure Solution structure of HNF-6 [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056006
AA Change: Q445K

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000058020
Gene: ENSMUSG00000043013
AA Change: Q445K

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
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,633,342 (GRCm39) T5024S probably benign Het
Adam23 C A 1: 63,596,605 (GRCm39) N562K probably damaging Het
Brd9 G A 13: 74,103,630 (GRCm39) M503I probably benign Het
Cyp2j8 A T 4: 96,358,713 (GRCm39) probably benign Het
Erich6 T C 3: 58,528,692 (GRCm39) I519M probably damaging Het
Fscn3 A G 6: 28,430,181 (GRCm39) E117G possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm45234 A G 6: 124,721,967 (GRCm39) probably benign Het
Ighv1-47 T A 12: 114,954,913 (GRCm39) M56L probably benign Het
Klf4 A G 4: 55,530,949 (GRCm39) L45P probably benign Het
Ksr1 A C 11: 78,935,665 (GRCm39) probably null Het
L3mbtl3 T C 10: 26,206,143 (GRCm39) N341S unknown Het
Mfsd12 T C 10: 81,201,622 (GRCm39) probably benign Het
Nlrp9c A T 7: 26,074,847 (GRCm39) probably benign Het
Ntrk2 T A 13: 58,994,665 (GRCm39) C194S probably damaging Het
Olfm4 G A 14: 80,249,392 (GRCm39) V170I possibly damaging Het
Or8g22 A C 9: 38,958,709 (GRCm39) D46E unknown Het
Pak6 A G 2: 118,520,345 (GRCm39) Q112R probably damaging Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Rapgef2 C T 3: 79,011,270 (GRCm39) E124K probably damaging Het
Snx14 T C 9: 88,263,565 (GRCm39) T893A probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Spag17 T C 3: 99,847,390 (GRCm39) probably benign Het
Tgds T C 14: 118,353,541 (GRCm39) T259A probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zc3h12a A G 4: 125,013,779 (GRCm39) S362P probably benign Het
Zfyve16 A G 13: 92,641,006 (GRCm39) I1246T probably damaging Het
Other mutations in Onecut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02704:Onecut1 APN 9 74,770,312 (GRCm39) missense probably damaging 1.00
Whittle UTSW 9 74,770,497 (GRCm39) missense probably damaging 1.00
R1601:Onecut1 UTSW 9 74,769,973 (GRCm39) missense probably benign 0.26
R5407:Onecut1 UTSW 9 74,796,738 (GRCm39) missense probably damaging 1.00
R5468:Onecut1 UTSW 9 74,770,614 (GRCm39) missense probably damaging 0.96
R5785:Onecut1 UTSW 9 74,770,674 (GRCm39) missense probably damaging 1.00
R5828:Onecut1 UTSW 9 74,770,042 (GRCm39) missense probably benign 0.05
R5928:Onecut1 UTSW 9 74,770,066 (GRCm39) missense probably benign 0.00
R6426:Onecut1 UTSW 9 74,769,631 (GRCm39) missense probably damaging 0.99
R6495:Onecut1 UTSW 9 74,770,497 (GRCm39) missense probably damaging 1.00
R7506:Onecut1 UTSW 9 74,770,522 (GRCm39) missense possibly damaging 0.73
R9655:Onecut1 UTSW 9 74,770,330 (GRCm39) missense possibly damaging 0.92
R9704:Onecut1 UTSW 9 74,770,258 (GRCm39) missense probably benign 0.10
X0004:Onecut1 UTSW 9 74,769,964 (GRCm39) missense possibly damaging 0.71
Posted On 2014-05-07