Mutagenetix > Incidental Mutations

Incidental Mutation 'R7132:Onecut2'

552781

Institutional Source

Beutler Lab

Gene Symbol

Onecut2

Ensembl Gene

ENSMUSG00000045991

Gene Name

one cut domain, family member 2

Synonyms

Oc2, OC-2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.786) question?

Stock #

R7132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64340364-64398488 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64340912 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 178 (H178L)

Ref Sequence

ENSEMBL: ENSMUSP00000110798 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115145
AA Change: H178L

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110798
Gene: ENSMUSG00000045991
AA Change: H178L

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

possibly damaging
Transcript: ENSMUST00000175965
AA Change: H159L

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135692
Gene: ENSMUSG00000045991
AA Change: H159L

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: 100.0%
10x: 99.7%
20x: 99.1%

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 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	T	10: 69,989,914	A1471V		Het
Ankrd12	C	A	17: 65,983,247	M1730I	probably benign	Het
Ap2a2	T	C	7: 141,619,565	Y462H	probably benign	Het
Ap5b1	T	A	19: 5,569,384	Y277*	probably null	Het
App	T	C	16: 85,056,482	D236G	unknown	Het
Arid2	A	T	15: 96,350,013	K102I	possibly damaging	Het
Asl	A	G	5: 130,014,702	V211A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cbx2	A	G	11: 119,023,121	S5G	probably benign	Het
Ccdc183	A	G	2: 25,616,530		probably null	Het
Cd72	T	C	4: 43,452,444	Q183R	possibly damaging	Het
Cdh26	T	A	2: 178,486,762	D702E	possibly damaging	Het
Cfap61	A	T	2: 146,109,950	N784I	probably damaging	Het
Cgrrf1	G	A	14: 46,853,864	V282M	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cobll1	T	G	2: 65,133,768	K170Q	probably damaging	Het
Copg2	A	T	6: 30,815,996	V468D	probably benign	Het
Cracr2b	C	T	7: 141,463,738	A84V	probably benign	Het
Cyp2f2	A	T	7: 27,132,568	D416V	probably benign	Het
Dcaf10	T	C	4: 45,342,391	F75S	probably benign	Het
Eml3	G	T	19: 8,941,028	A829S	probably benign	Het
Entpd3	A	G	9: 120,561,020	T402A	probably benign	Het
Fer1l4	A	T	2: 156,045,626	V550E	probably damaging	Het
Fgb	G	A	3: 83,046,746	R62*	probably null	Het
Fubp1	T	A	3: 152,232,024		probably null	Het
Gdf3	A	C	6: 122,606,324	D361E	probably damaging	Het
Gm6685	A	T	11: 28,339,330	I162N	probably damaging	Het
Hmx2	A	G	7: 131,555,916	Y253C	probably damaging	Het
Ints2	G	T	11: 86,217,754	N922K	probably benign	Het
Ipo7	C	T	7: 110,054,047	L984F	probably benign	Het
Itgae	A	T	11: 73,111,358	Y96F	possibly damaging	Het
Kalrn	A	G	16: 34,256,227	V697A	unknown	Het
Kctd18	G	A	1: 57,967,578	R38*	probably null	Het
Kdm5b	A	G	1: 134,599,106	D322G	probably damaging	Het
Ldb3	A	G	14: 34,577,035	Y211H	probably benign	Het
Limch1	T	C	5: 66,953,685	F85S	probably damaging	Het
Lrrn4	A	T	2: 132,879,693	L68*	probably null	Het
Lrwd1	A	G	5: 136,123,275	V616A	possibly damaging	Het
Nars	A	G	18: 64,507,770		probably null	Het
Nradd	T	C	9: 110,622,261	D13G	probably benign	Het
Oacyl	A	T	18: 65,698,409	N39I	probably damaging	Het
Olfr1499	T	A	19: 13,815,422	Q56L	probably benign	Het
Pcdhga4	A	C	18: 37,687,377	T660P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pitpnm3	T	A	11: 72,051,276	I902F	possibly damaging	Het
Plod3	T	C	5: 136,995,117	L180S		Het
Prrc2c	A	T	1: 162,681,281	H2354Q	possibly damaging	Het
Pth2r	A	G	1: 65,322,066	E58G	probably benign	Het
Rev1	G	T	1: 38,071,449	D573E	possibly damaging	Het
Sec24a	A	T	11: 51,715,136	L696*	probably null	Het
Serpinb3c	A	G	1: 107,276,951	S22P	probably damaging	Het
St18	A	T	1: 6,859,127	H81L		Het
Stard9	A	T	2: 120,679,378	K266*	probably null	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Syne1	G	A	10: 5,243,180	A3956V	probably damaging	Het
Tcp10a	C	T	17: 7,344,952	T381I	probably benign	Het
Tecpr2	T	A	12: 110,915,372	V125D	probably damaging	Het
Tmc2	T	C	2: 130,232,409	S341P	possibly damaging	Het
Tmem190	G	A	7: 4,784,225	V143I	probably benign	Het
Trap1	A	G	16: 4,055,829	Y288H	probably benign	Het
Trim39	T	C	17: 36,260,655	T404A	probably benign	Het
Ttn	T	A	2: 76,745,699	K24950I	probably damaging	Het
Ttn	G	T	2: 76,944,352	N2161K	unknown	Het
Unc13b	T	C	4: 43,215,757	S19P	probably benign	Het
Uqcrc1	T	A	9: 108,949,468	I471N	probably damaging	Het
Wbp11	T	C	6: 136,821,542	T170A	probably benign	Het
Wnk4	A	G	11: 101,261,200	I177V	probably benign	Het
Zfp455	C	A	13: 67,199,166	P51T	probably damaging	Het
Zfp946	T	C	17: 22,454,663	Y133H	probably benign	Het
Zfp955a	A	T	17: 33,241,615	Y514*	probably null	Het
Zzef1	T	C	11: 72,917,871		probably null	Het

Other mutations in Onecut2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Onecut2	APN	18	64341089	missense	probably damaging	1.00
IGL01712:Onecut2	APN	18	64386602	missense	probably damaging	0.97
IGL01925:Onecut2	APN	18	64341514	missense	probably damaging	1.00
IGL03105:Onecut2	APN	18	64341508	nonsense	probably null
R0197:Onecut2	UTSW	18	64341472	missense	possibly damaging	0.91
R0504:Onecut2	UTSW	18	64340749	missense	possibly damaging	0.72
R1514:Onecut2	UTSW	18	64341580	missense	possibly damaging	0.93
R2314:Onecut2	UTSW	18	64341197	missense	probably damaging	0.99
R3923:Onecut2	UTSW	18	64341520	missense	probably damaging	0.98
R3924:Onecut2	UTSW	18	64341520	missense	probably damaging	0.98
R3925:Onecut2	UTSW	18	64341520	missense	probably damaging	0.98
R4888:Onecut2	UTSW	18	64340927	missense	possibly damaging	0.86
R5818:Onecut2	UTSW	18	64340975	missense	possibly damaging	0.53
R5995:Onecut2	UTSW	18	64341548	missense	probably damaging	0.99
R7232:Onecut2	UTSW	18	64341562	missense	probably damaging	1.00
R7250:Onecut2	UTSW	18	64386440	missense	probably benign	0.21
R7631:Onecut2	UTSW	18	64340975	missense	possibly damaging	0.53
R7887:Onecut2	UTSW	18	64340975	missense	possibly damaging	0.53
R7891:Onecut2	UTSW	18	64340975	missense	possibly damaging	0.53
R7900:Onecut2	UTSW	18	64341587	missense	probably damaging	0.97
R8176:Onecut2	UTSW	18	64340860	missense	possibly damaging	0.62
Z1177:Onecut2	UTSW	18	64341307	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GTATGGCCTCGATCTTGGAC -3'
(R):5'- CTGAGCATTGTGAAGGCCAC -3'

Sequencing Primer
(F):5'- ATCTTGGACGGCAGCGACTAC -3'
(R):5'- ATTGTGAAGGCCACCCAGC -3'

Posted On

2019-05-15