Incidental Mutation 'R1601:Onecut1'
ID176156
Institutional Source Beutler Lab
Gene Symbol Onecut1
Ensembl Gene ENSMUSG00000043013
Gene Nameone cut domain, family member 1
SynonymsHNF6, Oc1, OC-1, D9Ertd423e, Hfh12, Hnf6
MMRRC Submission 039638-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.825) question?
Stock #R1601 (G1)
Quality Score225
Status Not validated
Chromosome9
Chromosomal Location74861921-74891781 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 74862691 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 132 (H132L)
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 benign
Transcript: ENSMUST00000056006
AA Change: H132L

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000058020
Gene: ENSMUSG00000043013
AA Change: H132L

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
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.6%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik G A 3: 68,870,213 S169N probably benign Het
4933416C03Rik T C 10: 116,113,616 S2G probably damaging Het
Adgra2 T C 8: 27,110,018 probably null Het
Adgrb2 T C 4: 129,992,837 S257P probably benign Het
Adgre1 A G 17: 57,441,353 K518E probably benign Het
Anxa7 A T 14: 20,464,615 Y64* probably null Het
Arhgef7 A G 8: 11,782,638 probably null Het
Cdc42bpa T A 1: 180,065,001 Y243* probably null Het
Cdk14 C T 5: 5,135,378 V176M probably damaging Het
Cnbd2 A G 2: 156,333,631 E54G probably damaging Het
Crx T C 7: 15,867,811 probably null Het
Cyp24a1 A G 2: 170,485,691 F511L possibly damaging Het
Ddx11 A G 17: 66,150,385 M810V probably damaging Het
Dock10 T C 1: 80,549,802 T1077A probably benign Het
Dopey1 G A 9: 86,536,250 D2011N probably damaging Het
Ehhadh T A 16: 21,766,408 H241L probably benign Het
Enah A T 1: 181,919,620 L523* probably null Het
Fabp3 T C 4: 130,308,848 L24P probably benign Het
Fat2 A G 11: 55,282,010 S2626P probably benign Het
Fbxo4 A G 15: 3,968,965 M337T possibly damaging Het
Gas6 G T 8: 13,465,786 T662N probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 119,160,716 probably null Het
Hrh4 G A 18: 13,015,898 V106I possibly damaging Het
Ido2 G T 8: 24,576,189 H20Q possibly damaging Het
Ikbkap T A 4: 56,774,756 K740* probably null Het
Itga10 G T 3: 96,653,658 R613L possibly damaging Het
Itsn2 T C 12: 4,658,452 S836P probably benign Het
Kcng3 A T 17: 83,588,339 C233S probably damaging Het
Kdm3b A G 18: 34,808,731 Q625R probably damaging Het
Kidins220 A G 12: 25,005,088 S553G probably benign Het
Krt82 A T 15: 101,545,153 I266N probably damaging Het
Lama5 A T 2: 180,197,745 L736Q probably damaging Het
Lnx2 A G 5: 147,033,519 C138R probably damaging Het
Mcm5 T C 8: 75,119,354 C397R possibly damaging Het
Me1 A C 9: 86,678,012 Y52D probably damaging Het
Muc4 C A 16: 32,755,501 probably benign Het
Myo18b G T 5: 112,871,498 Q638K possibly damaging Het
Ncapd2 A G 6: 125,185,772 L170P probably damaging Het
Neb A T 2: 52,287,252 L1359* probably null Het
Nomo1 C A 7: 46,046,955 S299Y probably damaging Het
Olfr1359 C A 13: 21,703,226 T75K probably damaging Het
Olfr1509 A C 14: 52,450,442 T10P probably benign Het
Olfr322 A T 11: 58,666,077 R173W probably damaging Het
Olfr57 A T 10: 79,035,504 Y236F possibly damaging Het
Paqr3 A G 5: 97,111,389 Y19H probably benign Het
Prdx5 T C 19: 6,907,558 H140R possibly damaging Het
Prox1 T C 1: 190,161,006 D414G probably damaging Het
Ptprh T G 7: 4,552,638 E774A probably damaging Het
Rnpepl1 A T 1: 92,917,222 D412V possibly damaging Het
Sars2 C T 7: 28,748,971 T259M probably benign Het
Sbf2 T C 7: 110,340,076 probably null Het
Sbno2 C T 10: 80,060,492 R898H probably damaging Het
Smox C A 2: 131,520,174 T172N probably damaging Het
Tdrd9 C T 12: 112,023,253 R341* probably null Het
Thrap3 C G 4: 126,180,101 G284A probably damaging Het
Tmtc4 A G 14: 122,944,826 V271A probably benign Het
Trank1 A G 9: 111,373,477 T1637A probably damaging Het
Tspan5 T A 3: 138,896,835 I166N probably damaging Het
Vps13b T C 15: 35,642,436 V1398A probably benign Het
Xbp1 C T 11: 5,521,975 R34W probably damaging Het
Other mutations in Onecut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01928:Onecut1 APN 9 74889533 missense possibly damaging 0.51
IGL02704:Onecut1 APN 9 74863030 missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- CCGATGTGAAGACTGGACTCCTTG -3'
(R):5'- AGTTGTGAATGCTGCCCAGACC -3'

Sequencing Primer
(F):5'- GGAGGCAGCGATTACCAC -3'
(R):5'- CCAGACCGGAGCCAGAG -3'
Posted On2014-04-24