Mutagenetix > Incidental Mutation

Incidental Mutation 'R1601:Onecut1'

176156

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

039638-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.884) question?

Stock #

R1601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74769203-74796930 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74769973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 132 (H132L)

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

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,546 (GRCm39)	S169N	probably benign	Het
Adgra2	T	C	8: 27,600,046 (GRCm39)		probably null	Het
Adgrb2	T	C	4: 129,886,630 (GRCm39)	S257P	probably benign	Het
Adgre1	A	G	17: 57,748,353 (GRCm39)	K518E	probably benign	Het
Anxa7	A	T	14: 20,514,683 (GRCm39)	Y64*	probably null	Het
Arhgef7	A	G	8: 11,832,638 (GRCm39)		probably null	Het
Cdc42bpa	T	A	1: 179,892,566 (GRCm39)	Y243*	probably null	Het
Cdk14	C	T	5: 5,185,378 (GRCm39)	V176M	probably damaging	Het
Cnbd2	A	G	2: 156,175,551 (GRCm39)	E54G	probably damaging	Het
Crx	T	C	7: 15,601,736 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,611 (GRCm39)	F511L	possibly damaging	Het
Ddx11	A	G	17: 66,457,380 (GRCm39)	M810V	probably damaging	Het
Dock10	T	C	1: 80,527,519 (GRCm39)	T1077A	probably benign	Het
Dop1a	G	A	9: 86,418,303 (GRCm39)	D2011N	probably damaging	Het
Ehhadh	T	A	16: 21,585,158 (GRCm39)	H241L	probably benign	Het
Elp1	T	A	4: 56,774,756 (GRCm39)	K740*	probably null	Het
Enah	A	T	1: 181,747,185 (GRCm39)	L523*	probably null	Het
Fabp3	T	C	4: 130,202,641 (GRCm39)	L24P	probably benign	Het
Fat2	A	G	11: 55,172,836 (GRCm39)	S2626P	probably benign	Het
Fbxo4	A	G	15: 3,998,447 (GRCm39)	M337T	possibly damaging	Het
Gas6	G	T	8: 13,515,786 (GRCm39)	T662N	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Hrh4	G	A	18: 13,148,955 (GRCm39)	V106I	possibly damaging	Het
Ido2	G	T	8: 25,066,205 (GRCm39)	H20Q	possibly damaging	Het
Itga10	G	T	3: 96,560,974 (GRCm39)	R613L	possibly damaging	Het
Itsn2	T	C	12: 4,708,452 (GRCm39)	S836P	probably benign	Het
Kcng3	A	T	17: 83,895,768 (GRCm39)	C233S	probably damaging	Het
Kdm3b	A	G	18: 34,941,784 (GRCm39)	Q625R	probably damaging	Het
Kidins220	A	G	12: 25,055,087 (GRCm39)	S553G	probably benign	Het
Krt82	A	T	15: 101,453,588 (GRCm39)	I266N	probably damaging	Het
Lama5	A	T	2: 179,839,538 (GRCm39)	L736Q	probably damaging	Het
Lnx2	A	G	5: 146,970,329 (GRCm39)	C138R	probably damaging	Het
Mcm5	T	C	8: 75,845,982 (GRCm39)	C397R	possibly damaging	Het
Me1	A	C	9: 86,560,065 (GRCm39)	Y52D	probably damaging	Het
Muc4	C	A	16: 32,575,875 (GRCm39)		probably benign	Het
Myo18b	G	T	5: 113,019,364 (GRCm39)	Q638K	possibly damaging	Het
Ncapd2	A	G	6: 125,162,735 (GRCm39)	L170P	probably damaging	Het
Neb	A	T	2: 52,177,264 (GRCm39)	L1359*	probably null	Het
Nomo1	C	A	7: 45,696,379 (GRCm39)	S299Y	probably damaging	Het
Or2b2	C	A	13: 21,887,396 (GRCm39)	T75K	probably damaging	Het
Or2w3	A	T	11: 58,556,903 (GRCm39)	R173W	probably damaging	Het
Or4e2	A	C	14: 52,687,899 (GRCm39)	T10P	probably benign	Het
Or7a41	A	T	10: 78,871,338 (GRCm39)	Y236F	possibly damaging	Het
Paqr3	A	G	5: 97,259,248 (GRCm39)	Y19H	probably benign	Het
Prdx5	T	C	19: 6,884,926 (GRCm39)	H140R	possibly damaging	Het
Prox1	T	C	1: 189,893,203 (GRCm39)	D414G	probably damaging	Het
Ptprh	T	G	7: 4,555,637 (GRCm39)	E774A	probably damaging	Het
Rnpepl1	A	T	1: 92,844,944 (GRCm39)	D412V	possibly damaging	Het
Sars2	C	T	7: 28,448,396 (GRCm39)	T259M	probably benign	Het
Sbf2	T	C	7: 109,939,283 (GRCm39)		probably null	Het
Sbno2	C	T	10: 79,896,326 (GRCm39)	R898H	probably damaging	Het
Smox	C	A	2: 131,362,094 (GRCm39)	T172N	probably damaging	Het
Taf7l2	T	C	10: 115,949,521 (GRCm39)	S2G	probably damaging	Het
Tdrd9	C	T	12: 111,989,687 (GRCm39)	R341*	probably null	Het
Thrap3	C	G	4: 126,073,894 (GRCm39)	G284A	probably damaging	Het
Tmtc4	A	G	14: 123,182,238 (GRCm39)	V271A	probably benign	Het
Trank1	A	G	9: 111,202,545 (GRCm39)	T1637A	probably damaging	Het
Tspan5	T	A	3: 138,602,596 (GRCm39)	I166N	probably damaging	Het
Vps13b	T	C	15: 35,642,582 (GRCm39)	V1398A	probably benign	Het
Xbp1	C	T	11: 5,471,975 (GRCm39)	R34W	probably damaging	Het

Other mutations in Onecut1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- CCGATGTGAAGACTGGACTCCTTG -3'
(R):5'- AGTTGTGAATGCTGCCCAGACC -3'

Sequencing Primer
(F):5'- GGAGGCAGCGATTACCAC -3'
(R):5'- CCAGACCGGAGCCAGAG -3'

Posted On

2014-04-24