Mutagenetix > Incidental Mutation

Incidental Mutation 'R7900:Onecut2'

609965

Institutional Source

Beutler Lab

Gene Symbol

Onecut2

Ensembl Gene

ENSMUSG00000045991

Gene Name

one cut domain, family member 2

Synonyms

OC-2, Oc2

MMRRC Submission

045952-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.765) question?

Stock #

R7900 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64473098-64531559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64474658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 403 (R403L)

Ref Sequence

ENSEMBL: ENSMUSP00000110798 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115145] [ENSMUST00000175965]

AlphaFold

Q6XBJ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000115145
AA Change: R403L

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110798
Gene: ENSMUSG00000045991
AA Change: R403L

Domain	Start	End	E-Value	Type
low complexity region	34	56	N/A	INTRINSIC
low complexity region	92	111	N/A	INTRINSIC
low complexity region	146	158	N/A	INTRINSIC
low complexity region	167	185	N/A	INTRINSIC
low complexity region	311	323	N/A	INTRINSIC
CUT	326	411	1e-42	SMART
HOX	427	489	2.63e-12	SMART
low complexity region	491	501	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000175965
AA Change: R384L

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135692
Gene: ENSMUSG00000045991
AA Change: R384L

Domain	Start	End	E-Value	Type
low complexity region	15	37	N/A	INTRINSIC
low complexity region	73	92	N/A	INTRINSIC
low complexity region	127	139	N/A	INTRINSIC
low complexity region	148	166	N/A	INTRINSIC
low complexity region	292	304	N/A	INTRINSIC
CUT	307	392	1e-42	SMART
HOX	408	470	2.63e-12	SMART
low complexity region	472	482	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (50/50)

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 onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in abnormal bile duct development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Adamtsl5	A	G	10: 80,177,735 (GRCm39)	F309S	probably damaging	Het
Ankle1	C	T	8: 71,860,061 (GRCm39)	T213I	probably damaging	Het
C4b	A	G	17: 34,958,751 (GRCm39)	S528P	probably benign	Het
Camk2a	A	G	18: 61,090,438 (GRCm39)	Y222C	probably damaging	Het
Cnst	A	G	1: 179,450,453 (GRCm39)	D639G	probably damaging	Het
Ctbp2	A	C	7: 132,616,328 (GRCm39)	S202R	probably benign	Het
Cwf19l2	G	T	9: 3,460,107 (GRCm39)	L798F	probably damaging	Het
Cyp11a1	T	A	9: 57,923,667 (GRCm39)	V124E	possibly damaging	Het
Ddx3y	C	T	Y: 1,266,594 (GRCm39)		probably null	Het
Dlst	G	T	12: 85,177,292 (GRCm39)	R346L	probably benign	Het
Dnah2	A	G	11: 69,409,254 (GRCm39)	S375P	probably damaging	Het
Dnm3	T	A	1: 162,182,940 (GRCm39)	Y125F	probably benign	Het
Dock9	C	T	14: 121,783,491 (GRCm39)	A2011T	possibly damaging	Het
Efr3a	T	A	15: 65,719,984 (GRCm39)		probably null	Het
Egln1	A	T	8: 125,640,879 (GRCm39)	I319N	possibly damaging	Het
Gata3	T	A	2: 9,863,461 (GRCm39)	N351I	probably damaging	Het
Gjd3	T	C	11: 102,690,920 (GRCm39)	N361S	probably benign	Het
Gpcpd1	T	C	2: 132,376,659 (GRCm39)	T546A	probably damaging	Het
Gpihbp1	T	C	15: 75,469,791 (GRCm39)	F169L	probably benign	Het
Gpnmb	A	T	6: 49,027,400 (GRCm39)	I375L	possibly damaging	Het
Itpka	A	T	2: 119,580,994 (GRCm39)	T381S	probably benign	Het
Lhx4	T	C	1: 155,617,709 (GRCm39)		probably benign	Het
Lrguk	T	C	6: 34,106,129 (GRCm39)	L718P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nr1d1	T	A	11: 98,660,537 (GRCm39)	T477S	probably benign	Het
Nxnl1	A	T	8: 72,019,170 (GRCm39)	D18E	probably damaging	Het
Or51v14	T	C	7: 103,260,900 (GRCm39)	Y220C	possibly damaging	Het
Or5an1	T	A	19: 12,260,705 (GRCm39)	C98S	probably damaging	Het
Pla2r1	T	C	2: 60,258,858 (GRCm39)	T1177A	possibly damaging	Het
Prkd2	T	C	7: 16,587,269 (GRCm39)	V405A	probably benign	Het
Ranbp1	T	C	16: 18,063,161 (GRCm39)	T72A	probably damaging	Het
Retnla	A	C	16: 48,663,977 (GRCm39)	R90S	probably benign	Het
Sec31b	A	T	19: 44,514,669 (GRCm39)	I385N	probably damaging	Het
Slc6a19	C	T	13: 73,848,583 (GRCm39)	R57H	probably damaging	Het
Smurf1	T	C	5: 144,836,183 (GRCm39)	D110G	probably damaging	Het
Specc1	A	G	11: 62,110,187 (GRCm39)	Y975C	probably damaging	Het
Tas2r136	T	A	6: 132,754,599 (GRCm39)	N176I	possibly damaging	Het
Tecrl	A	C	5: 83,427,188 (GRCm39)	V320G	probably benign	Het
Tmem245	A	G	4: 56,924,973 (GRCm39)		probably null	Het
Tpd52l1	T	A	10: 31,214,178 (GRCm39)		probably null	Het
Trbv2	A	G	6: 41,024,908 (GRCm39)	Y108C	probably damaging	Het
Trpm7	T	C	2: 126,639,418 (GRCm39)	M1689V	probably benign	Het
Usp24	A	G	4: 106,266,597 (GRCm39)	Y1855C	probably damaging	Het
Usp9y	A	T	Y: 1,384,354 (GRCm39)	S721R	possibly damaging	Het
Vwf	G	A	6: 125,605,439 (GRCm39)		probably null	Het
Washc4	T	A	10: 83,409,637 (GRCm39)		probably null	Het
Yeats4	G	A	10: 117,056,464 (GRCm39)	H71Y	possibly damaging	Het
Zbtb38	A	C	9: 96,570,989 (GRCm39)	L32V	probably damaging	Het
Zfy1	T	C	Y: 725,519 (GRCm39)	T749A	possibly damaging	Het

Other mutations in Onecut2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Onecut2	APN	18	64,474,160 (GRCm39)	missense	probably damaging	1.00
IGL01712:Onecut2	APN	18	64,519,673 (GRCm39)	missense	probably damaging	0.97
IGL01925:Onecut2	APN	18	64,474,585 (GRCm39)	missense	probably damaging	1.00
IGL03105:Onecut2	APN	18	64,474,579 (GRCm39)	nonsense	probably null
R0197:Onecut2	UTSW	18	64,474,543 (GRCm39)	missense	possibly damaging	0.91
R0504:Onecut2	UTSW	18	64,473,820 (GRCm39)	missense	possibly damaging	0.72
R1514:Onecut2	UTSW	18	64,474,651 (GRCm39)	missense	possibly damaging	0.93
R2314:Onecut2	UTSW	18	64,474,268 (GRCm39)	missense	probably damaging	0.99
R3923:Onecut2	UTSW	18	64,474,591 (GRCm39)	missense	probably damaging	0.98
R3924:Onecut2	UTSW	18	64,474,591 (GRCm39)	missense	probably damaging	0.98
R3925:Onecut2	UTSW	18	64,474,591 (GRCm39)	missense	probably damaging	0.98
R4888:Onecut2	UTSW	18	64,473,998 (GRCm39)	missense	possibly damaging	0.86
R5818:Onecut2	UTSW	18	64,474,046 (GRCm39)	missense	possibly damaging	0.53
R5995:Onecut2	UTSW	18	64,474,619 (GRCm39)	missense	probably damaging	0.99
R7132:Onecut2	UTSW	18	64,473,983 (GRCm39)	missense	possibly damaging	0.79
R7232:Onecut2	UTSW	18	64,474,633 (GRCm39)	missense	probably damaging	1.00
R7250:Onecut2	UTSW	18	64,519,511 (GRCm39)	missense	probably benign	0.21
R7631:Onecut2	UTSW	18	64,474,046 (GRCm39)	missense	possibly damaging	0.53
R7887:Onecut2	UTSW	18	64,474,046 (GRCm39)	missense	possibly damaging	0.53
R7891:Onecut2	UTSW	18	64,474,046 (GRCm39)	missense	possibly damaging	0.53
R8176:Onecut2	UTSW	18	64,473,931 (GRCm39)	missense	possibly damaging	0.62
R9189:Onecut2	UTSW	18	64,473,890 (GRCm39)	missense	probably damaging	1.00
Z1177:Onecut2	UTSW	18	64,474,378 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AGCTGGAAGAGATCAACACC -3'
(R):5'- ACTGGCAATGAAAACTCAGAGTC -3'

Sequencing Primer
(F):5'- TATCACCGCCGAGCTGAAG -3'
(R):5'- AACTCAGAGTCAAGGAGTGTG -3'

Posted On

2019-12-20