Mutagenetix > Incidental Mutation

Incidental Mutation 'R5468:Onecut1'

433351

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

043029-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.884) question?

Stock #

R5468 (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 74770614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 346 (T346S)

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 damaging
Transcript: ENSMUST00000056006
AA Change: T346S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058020
Gene: ENSMUSG00000043013
AA Change: T346S

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: 98.2%
3x: 97.3%
10x: 95.2%
20x: 91.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	C	T	7: 44,009,659 (GRCm39)	R181Q	probably damaging	Het
Abca13	T	A	11: 9,244,062 (GRCm39)	L1975Q	probably damaging	Het
Acp2	T	A	2: 91,036,443 (GRCm39)	I180N	probably benign	Het
Adam12	T	C	7: 133,577,202 (GRCm39)	D221G	probably damaging	Het
Adamts4	A	G	1: 171,080,178 (GRCm39)	T244A	probably benign	Het
Adrb2	A	T	18: 62,312,696 (GRCm39)	I43N	probably damaging	Het
Anxa1	A	T	19: 20,355,847 (GRCm39)	Y207N	probably damaging	Het
Apba2	T	C	7: 64,395,510 (GRCm39)	L662P	probably damaging	Het
Arhgap18	T	A	10: 26,788,667 (GRCm39)	I593K	probably damaging	Het
Arsj	T	C	3: 126,232,037 (GRCm39)	V261A	possibly damaging	Het
Atp7b	A	T	8: 22,549,986 (GRCm39)		probably null	Het
C2cd2	C	T	16: 97,669,791 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,384,568 (GRCm39)	S2571T	probably damaging	Het
Cep162	A	C	9: 87,109,290 (GRCm39)	L438V	probably benign	Het
Cfap74	A	T	4: 155,510,498 (GRCm39)	N361I	probably benign	Het
Cntn5	A	G	9: 9,743,633 (GRCm39)	I548T	probably damaging	Het
Cracd	A	T	5: 76,988,610 (GRCm39)		probably benign	Het
Dglucy	A	G	12: 100,816,594 (GRCm39)	N382S	probably benign	Het
Dnah10	C	A	5: 124,907,557 (GRCm39)	N4306K	probably damaging	Het
Fam181a	A	T	12: 103,282,937 (GRCm39)	M281L	probably benign	Het
Fam186b	A	G	15: 99,176,751 (GRCm39)	I713T	possibly damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fry	A	T	5: 150,323,053 (GRCm39)	Y1068F	probably benign	Het
Fubp3	A	G	2: 31,493,247 (GRCm39)	I231V	probably benign	Het
Gbf1	A	G	19: 46,272,735 (GRCm39)	D1681G	possibly damaging	Het
Gm10999	G	A	8: 129,858,130 (GRCm39)	P5S	probably damaging	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Impg1	T	C	9: 80,347,318 (GRCm39)	I9V	probably benign	Het
Lama4	A	G	10: 38,948,678 (GRCm39)		probably null	Het
Lamc1	A	G	1: 153,109,310 (GRCm39)	S1161P	probably damaging	Het
Lipm	T	A	19: 34,086,954 (GRCm39)		probably null	Het
Lrrc7	G	T	3: 158,024,073 (GRCm39)	N107K	probably damaging	Het
Lypd8	T	C	11: 58,277,586 (GRCm39)	S123P	probably damaging	Het
Man2a2	T	C	7: 80,002,729 (GRCm39)	D1084G	probably damaging	Het
Man2b2	A	G	5: 36,964,519 (GRCm39)	S1000P	probably benign	Het
Ms4a7	C	T	19: 11,299,778 (GRCm39)	C71Y	probably benign	Het
Mtus1	A	G	8: 41,537,615 (GRCm39)	S34P	probably benign	Het
Myo3b	A	G	2: 70,064,785 (GRCm39)	N406S	probably benign	Het
Nbr1	A	T	11: 101,463,290 (GRCm39)	M586L	probably benign	Het
Nfatc1	C	T	18: 80,693,070 (GRCm39)	R677H	probably benign	Het
Nlrc3	A	C	16: 3,781,899 (GRCm39)	S503R	probably damaging	Het
Nlrp9c	A	T	7: 26,064,425 (GRCm39)	F968I	probably benign	Het
Or1j12	A	T	2: 36,343,455 (GRCm39)	N286I	probably damaging	Het
Or8b35	G	A	9: 37,904,307 (GRCm39)	C168Y	probably damaging	Het
Or8g32	A	G	9: 39,305,257 (GRCm39)	N57D	probably benign	Het
Pclo	A	T	5: 14,730,966 (GRCm39)	K3156M	unknown	Het
Pigo	C	T	4: 43,024,562 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,809,072 (GRCm39)	F580S	probably damaging	Het
Plekhm2	G	T	4: 141,355,411 (GRCm39)	P879H	probably damaging	Het
Ppm1e	T	A	11: 87,121,716 (GRCm39)	Y747F	probably benign	Het
Ppwd1	A	G	13: 104,361,952 (GRCm39)	F69L	possibly damaging	Het
Prss27	C	A	17: 24,257,287 (GRCm39)	Q3K	possibly damaging	Het
Prss29	T	A	17: 25,540,020 (GRCm39)	N139K	possibly damaging	Het
Qrich2	T	A	11: 116,339,191 (GRCm39)	T1777S	probably damaging	Het
Rbp3	A	T	14: 33,678,584 (GRCm39)	H844L	possibly damaging	Het
Rubcnl	G	A	14: 75,269,471 (GRCm39)	C43Y	possibly damaging	Het
Sec14l5	A	G	16: 4,985,004 (GRCm39)		probably null	Het
Sepsecs	A	T	5: 52,801,356 (GRCm39)	N435K	probably damaging	Het
Sfrp1	A	G	8: 23,936,226 (GRCm39)	K223E	probably benign	Het
Sh3tc2	G	A	18: 62,106,502 (GRCm39)		probably null	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Tmprss7	A	G	16: 45,476,811 (GRCm39)	F817S	probably damaging	Het
Tril	T	C	6: 53,796,632 (GRCm39)	N197D	probably damaging	Het
Tspan18	T	C	2: 93,040,207 (GRCm39)	T183A	probably benign	Het
Uroc1	A	T	6: 90,315,586 (GRCm39)	M156L	probably benign	Het
Wnt16	T	C	6: 22,291,160 (GRCm39)	V196A	probably benign	Het
Xpnpep1	A	G	19: 52,983,950 (GRCm39)	Y592H	probably benign	Het
Zfp553	T	C	7: 126,836,202 (GRCm39)	S586P	probably benign	Het
Zfp619	C	T	7: 39,185,152 (GRCm39)	A394V	unknown	Het
Zfp985	A	G	4: 147,667,702 (GRCm39)	Y190C	probably benign	Het
Zmynd10	T	A	9: 107,427,536 (GRCm39)	D309E	probably benign	Het
Zmynd15	T	C	11: 70,352,646 (GRCm39)	L73P	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
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
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'- TCCTCATGCCCACCTGAATG -3'
(R):5'- ACACCTCTCTTGAAGAAAGGG -3'

Sequencing Primer
(F):5'- CGCAGGTCAGCAATGGAAGTAATTC -3'
(R):5'- CCTCTCTTGAAGAAAGGGGAGGC -3'

Posted On

2016-10-06