Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01925:Onecut2'

180259

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Onecut2

Ensembl Gene

ENSMUSG00000045991

Gene Name

one cut domain, family member 2

Synonyms

OC-2, Oc2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.765) question?

Stock #

IGL01925

Quality Score

Status

Chromosome

Chromosomal Location

64473098-64531559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64474585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 360 (W360R)

Ref Sequence

ENSEMBL: ENSMUSP00000135692 (fasta)

Gene Model

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

AlphaFold

Q6XBJ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000115145
AA Change: W379R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110798
Gene: ENSMUSG00000045991
AA Change: W379R

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: W360R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135692
Gene: ENSMUSG00000045991
AA Change: W360R

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aloxe3	A	G	11: 69,019,459 (GRCm39)	D124G	probably damaging	Het
Arap3	C	T	18: 38,117,299 (GRCm39)	V926I	probably benign	Het
Catspere2	T	A	1: 177,842,687 (GRCm39)		probably benign	Het
Col6a3	C	T	1: 90,729,958 (GRCm39)	V1176M	possibly damaging	Het
D5Ertd579e	A	T	5: 36,771,628 (GRCm39)	D922E	possibly damaging	Het
Dipk2a	A	C	9: 94,402,509 (GRCm39)	D384E	probably damaging	Het
Epm2a	T	A	10: 11,324,502 (GRCm39)	I197N	possibly damaging	Het
Faim	T	G	9: 98,872,972 (GRCm39)		probably benign	Het
Fkbp15	A	G	4: 62,241,450 (GRCm39)	I565T	probably damaging	Het
Fli1	G	A	9: 32,377,127 (GRCm39)	P47L	probably damaging	Het
Gli2	T	C	1: 118,781,106 (GRCm39)	K187R	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hspa5	G	A	2: 34,664,730 (GRCm39)	V395I	probably benign	Het
Ide	T	C	19: 37,255,296 (GRCm39)	T836A	unknown	Het
Il9	T	A	13: 56,629,684 (GRCm39)		probably benign	Het
Ints8	C	T	4: 11,235,617 (GRCm39)		probably benign	Het
Lrrc37a	T	A	11: 103,389,245 (GRCm39)	H2060L	probably benign	Het
Mok	T	C	12: 110,774,646 (GRCm39)	N208S	probably benign	Het
Morn3	T	C	5: 123,184,825 (GRCm39)	K5R	probably damaging	Het
Nalcn	C	T	14: 123,529,260 (GRCm39)	C1405Y	possibly damaging	Het
Ndufv3	T	C	17: 31,746,460 (GRCm39)	S117P	possibly damaging	Het
Ninl	A	T	2: 150,812,979 (GRCm39)	C226S	probably damaging	Het
Or10al4	A	G	17: 38,037,002 (GRCm39)	E29G	probably benign	Het
Or13f5	A	G	4: 52,825,910 (GRCm39)	N171S	probably benign	Het
Or1af1	A	G	2: 37,110,058 (GRCm39)	T186A	probably benign	Het
Or2d3b	T	A	7: 106,514,235 (GRCm39)	F277I	probably damaging	Het
Or2w2	T	C	13: 21,758,341 (GRCm39)	D95G	possibly damaging	Het
Or51e1	T	C	7: 102,359,410 (GRCm39)	S315P	probably damaging	Het
Rai14	A	G	15: 10,595,948 (GRCm39)	S118P	possibly damaging	Het
Serpinb7	T	C	1: 107,379,399 (GRCm39)	S269P	probably benign	Het
Sesn3	C	T	9: 14,231,696 (GRCm39)	T209I	probably damaging	Het
Slit1	T	A	19: 41,596,817 (GRCm39)	N1094I	probably damaging	Het
Tep1	C	T	14: 51,061,955 (GRCm39)		probably benign	Het
Top1mt	A	G	15: 75,528,992 (GRCm39)	F584S	possibly damaging	Het
Trim44	A	T	2: 102,230,362 (GRCm39)	L223Q	probably benign	Het
Trim69	T	A	2: 121,998,397 (GRCm39)	L123Q	probably damaging	Het
Ubr2	A	T	17: 47,265,875 (GRCm39)	L1153I	possibly damaging	Het
Unc13a	G	A	8: 72,087,187 (GRCm39)	T1520I	possibly damaging	Het
Vmn2r105	A	C	17: 20,428,973 (GRCm39)	I701S	possibly damaging	Het
Wrn	T	C	8: 33,809,208 (GRCm39)	T263A	probably benign	Het
Yeats2	T	G	16: 19,998,430 (GRCm39)		probably benign	Het
Ythdf2	T	C	4: 131,938,085 (GRCm39)	Y37C	probably damaging	Het
Zfp169	T	C	13: 48,644,239 (GRCm39)		probably benign	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
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
R7900:Onecut2	UTSW	18	64,474,658 (GRCm39)	missense	probably damaging	0.97
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

Posted On

2014-05-07