Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01712:Onecut2'

104841

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 #

IGL01712

Quality Score

Status

Chromosome

Chromosomal Location

64473098-64531559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64519673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 478 (S478T)

Ref Sequence

ENSEMBL: ENSMUSP00000135692 (fasta)

Gene Model

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

AlphaFold

Q6XBJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000115145
AA Change: S497T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110798
Gene: ENSMUSG00000045991
AA Change: S497T

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: S478T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135692
Gene: ENSMUSG00000045991
AA Change: S478T

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,776,321 (GRCm39)	I164N	possibly damaging	Het
Adgrb3	A	G	1: 25,865,360 (GRCm39)	V161A	probably benign	Het
Arhgdib	G	A	6: 136,901,195 (GRCm39)	T178M	probably damaging	Het
Atp11a	T	A	8: 12,901,138 (GRCm39)	I989K	probably benign	Het
Bcam	T	C	7: 19,492,692 (GRCm39)	S498G	probably damaging	Het
Bcas3	A	G	11: 85,471,874 (GRCm39)	I728V	probably damaging	Het
Cep57	G	T	9: 13,724,713 (GRCm39)	P119Q	possibly damaging	Het
Cimip2a	T	C	2: 25,108,804 (GRCm39)		probably benign	Het
Clip4	T	A	17: 72,106,036 (GRCm39)	I73N	probably damaging	Het
Cpa4	A	G	6: 30,590,815 (GRCm39)	D371G	possibly damaging	Het
Dnah7a	A	G	1: 53,462,429 (GRCm39)	S3721P	probably benign	Het
Fcrla	T	C	1: 170,749,192 (GRCm39)		probably null	Het
Foxg1	T	C	12: 49,432,403 (GRCm39)	S379P	possibly damaging	Het
Gatm	T	A	2: 122,431,306 (GRCm39)	Y227F	possibly damaging	Het
Grid2	A	T	6: 64,642,899 (GRCm39)	D887V	possibly damaging	Het
Gtpbp6	A	T	5: 110,252,245 (GRCm39)	I429N	probably benign	Het
Ighmbp2	A	G	19: 3,323,038 (GRCm39)		probably benign	Het
Irs4	T	C	X: 140,505,395 (GRCm39)	N934D	unknown	Het
Kif16b	T	A	2: 142,490,391 (GRCm39)	N1257I	probably damaging	Het
L1cam	T	C	X: 72,908,044 (GRCm39)	Y169C	probably damaging	Het
L3mbtl3	A	T	10: 26,152,133 (GRCm39)	M821K	probably damaging	Het
Lig3	A	G	11: 82,680,367 (GRCm39)		probably benign	Het
Lpin2	T	A	17: 71,522,063 (GRCm39)	D32E	probably damaging	Het
Mcoln3	T	C	3: 145,834,019 (GRCm39)		probably benign	Het
Mgst2	T	C	3: 51,571,992 (GRCm39)	V40A	probably damaging	Het
Mov10l1	T	C	15: 88,908,969 (GRCm39)	S997P	probably damaging	Het
Mycbpap	G	T	11: 94,403,481 (GRCm39)	H187Q	possibly damaging	Het
Or2n1d	A	T	17: 38,646,848 (GRCm39)	T267S	probably benign	Het
Or52h7	T	C	7: 104,214,226 (GRCm39)	V266A	probably benign	Het
Pcdhb5	A	T	18: 37,454,306 (GRCm39)	I229F	probably damaging	Het
Pfas	A	G	11: 68,881,886 (GRCm39)	V933A	probably benign	Het
Phldb2	A	T	16: 45,571,792 (GRCm39)	I1200N	probably damaging	Het
Pla2g4e	C	A	2: 120,019,884 (GRCm39)		probably null	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Rhot2	A	G	17: 26,060,334 (GRCm39)		probably null	Het
Serpina3f	C	T	12: 104,184,657 (GRCm39)	P267L	probably damaging	Het
Sppl2a	C	T	2: 126,746,823 (GRCm39)		probably benign	Het
Tas2r122	A	T	6: 132,688,725 (GRCm39)	M56K	possibly damaging	Het
Tbxas1	A	G	6: 39,057,994 (GRCm39)	T450A	probably benign	Het
Tex16	T	C	X: 111,003,451 (GRCm39)	S87P	probably damaging	Het
Them7	T	A	2: 105,209,230 (GRCm39)	F183L	possibly damaging	Het
Tmbim7	A	G	5: 3,720,074 (GRCm39)	T116A	probably damaging	Het
Tomm40	G	T	7: 19,437,288 (GRCm39)	S224R	probably benign	Het
Top3a	A	T	11: 60,652,562 (GRCm39)	I84N	probably damaging	Het
Vmn1r28	A	G	6: 58,242,393 (GRCm39)	T79A	probably benign	Het
Vmn2r61	A	T	7: 41,909,661 (GRCm39)	Y62F	probably damaging	Het
Zbtb42	T	C	12: 112,646,718 (GRCm39)	C298R	probably benign	Het
Zfp395	G	A	14: 65,623,836 (GRCm39)	E102K	probably 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
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
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

2014-01-21