Incidental Mutation 'R7506:Onecut1'
ID 581796
Institutional Source Beutler Lab
Gene Symbol Onecut1
Ensembl Gene ENSMUSG00000043013
Gene Name one cut domain, family member 1
Synonyms Hfh12, Oc1, OC-1, D9Ertd423e, Hnf6, HNF6
MMRRC Submission 045579-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.884) question?
Stock # R7506 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 74769203-74796930 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74770522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 315 (F315Y)
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: F315Y

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000058020
Gene: ENSMUSG00000043013
AA Change: F315Y

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
Meta Mutation Damage Score 0.5004 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (58/59)
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
4931406C07Rik C T 9: 15,209,202 (GRCm39) V31I probably benign Het
4933430I17Rik T C 4: 62,450,498 (GRCm39) V24A possibly damaging Het
Adamtsl3 A T 7: 82,164,186 (GRCm39) R334W probably damaging Het
Aox1 G A 1: 58,088,562 (GRCm39) C116Y probably damaging Het
B3gntl1 A T 11: 121,561,740 (GRCm39) I74N probably damaging Het
Bicra C T 7: 15,722,138 (GRCm39) V460M possibly damaging Het
Ccdc18 G A 5: 108,311,605 (GRCm39) C437Y possibly damaging Het
Cdh6 A G 15: 13,034,396 (GRCm39) S755P probably damaging Het
Crtc2 G T 3: 90,166,519 (GRCm39) A165S probably damaging Het
Cwf19l2 C T 9: 3,456,775 (GRCm39) H703Y probably damaging Het
Cyc1 C A 15: 76,227,885 (GRCm39) T41K probably benign Het
Defb28 A T 2: 152,360,221 (GRCm39) H12L possibly damaging Het
Dsg3 T A 18: 20,666,521 (GRCm39) C577S probably benign Het
Ggt6 G T 11: 72,328,724 (GRCm39) C408F possibly damaging Het
Gm3278 T A 14: 16,080,479 (GRCm39) Y97N probably damaging Het
Gpr155 A G 2: 73,198,683 (GRCm39) L412P probably damaging Het
Gucd1 T C 10: 75,347,019 (GRCm39) H77R probably benign Het
H2bc8 G A 13: 23,755,658 (GRCm39) A18T unknown Het
Hat1 T A 2: 71,250,691 (GRCm39) I158N probably damaging Het
Hhla1 C T 15: 65,808,231 (GRCm39) W271* probably null Het
Igsf10 T A 3: 59,226,775 (GRCm39) L2299F probably damaging Het
Iqsec1 A G 6: 90,644,891 (GRCm39) S914P probably damaging Het
Iqsec1 G T 6: 90,639,788 (GRCm39) H983Q possibly damaging Het
Irx2 G T 13: 72,777,328 (GRCm39) G50C probably damaging Het
Kif26b T C 1: 178,357,064 (GRCm39) probably benign Het
Lmo7 A G 14: 102,157,045 (GRCm39) E1405G unknown Het
Mdm2 T C 10: 117,526,596 (GRCm39) D330G possibly damaging Het
Mgat5 A C 1: 127,294,192 (GRCm39) D178A probably benign Het
Mier2 C A 10: 79,386,176 (GRCm39) R25L probably benign Het
Mlip T C 9: 77,072,085 (GRCm39) K257E probably damaging Het
Mtfr2 T C 10: 20,229,131 (GRCm39) S80P probably benign Het
Ndst2 A G 14: 20,780,153 (GRCm39) V29A probably benign Het
Negr1 T G 3: 156,774,870 (GRCm39) Y195* probably null Het
Nptn T C 9: 58,526,156 (GRCm39) L101P probably damaging Het
Nrip1 G A 16: 76,091,347 (GRCm39) T70I probably damaging Het
Nrtn C T 17: 57,058,633 (GRCm39) V123M probably damaging Het
Or1p1 A T 11: 74,179,949 (GRCm39) H159L possibly damaging Het
P4htm A G 9: 108,460,878 (GRCm39) L198S probably damaging Het
Pappa A C 4: 65,149,419 (GRCm39) I920L probably benign Het
Pcdhgb5 A C 18: 37,865,525 (GRCm39) D440A probably damaging Het
Ppard A T 17: 28,517,735 (GRCm39) N268Y possibly damaging Het
Rapgef6 T A 11: 54,526,997 (GRCm39) S563T probably benign Het
Rtn3 T A 19: 7,407,118 (GRCm39) E949D probably benign Het
Sf3a1 T C 11: 4,127,561 (GRCm39) M629T probably benign Het
Slc39a8 T C 3: 135,590,067 (GRCm39) I319T probably benign Het
Sorcs1 C T 19: 50,171,112 (GRCm39) W925* probably null Het
Spag9 G A 11: 93,999,290 (GRCm39) D1069N probably damaging Het
Taar7a A G 10: 23,868,892 (GRCm39) V163A possibly damaging Het
Tmem150a G A 6: 72,333,753 (GRCm39) probably null Het
Tnxb G A 17: 34,934,665 (GRCm39) V2425I possibly damaging Het
Tppp2 A G 14: 52,158,058 (GRCm39) K168E possibly damaging Het
Ttn T A 2: 76,719,812 (GRCm39) D7099V unknown Het
Vmn1r41 A T 6: 89,724,159 (GRCm39) R50* probably null Het
Vmn1r60 T C 7: 5,547,861 (GRCm39) K80E Het
Vmn2r18 A G 5: 151,508,485 (GRCm39) F213S possibly damaging Het
Vmn2r26 G A 6: 124,016,700 (GRCm39) S388N probably benign Het
Vmn2r63 A T 7: 42,576,391 (GRCm39) F474Y probably damaging Het
Zc3hav1 G A 6: 38,309,875 (GRCm39) R316* probably null Het
Zfp654 A T 16: 64,612,211 (GRCm39) I225N probably damaging Het
Zfp97 A G 17: 17,365,542 (GRCm39) E347G probably damaging Het
Other mutations in Onecut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01928:Onecut1 APN 9 74,796,815 (GRCm39) missense possibly damaging 0.51
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
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
Predicted Primers PCR Primer
(F):5'- TCCTCATGCCCACCTGAATG -3'
(R):5'- GACACCTCTCTTGAAGAAAGGGG -3'

Sequencing Primer
(F):5'- TGCCCACCTGAATGCCCAG -3'
(R):5'- CTCTCTTGAAGAAAGGGGAGGCG -3'
Posted On 2019-10-17