Mutagenetix > Incidental Mutation

Incidental Mutation 'R5995:Onecut2'

481096

Institutional Source

Beutler Lab

Gene Symbol

Onecut2

Ensembl Gene

ENSMUSG00000045991

Gene Name

one cut domain, family member 2

Synonyms

OC-2, Oc2

MMRRC Submission

044174-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.765) question?

Stock #

R5995 (G1)

Quality Score

157.009

Status

Validated

Chromosome

Chromosomal Location

64473098-64531559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64474619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 390 (R390L)

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: R390L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110798
Gene: ENSMUSG00000045991
AA Change: R390L

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 benign
Transcript: ENSMUST00000175965
AA Change: R371L

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135692
Gene: ENSMUSG00000045991
AA Change: R371L

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

Meta Mutation Damage Score

0.3091

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Adgrb2	C	A	4: 129,910,896 (GRCm39)	A1104E	probably damaging	Het
Adgrv1	A	G	13: 81,614,378 (GRCm39)	V4005A	probably benign	Het
Bend6	T	C	1: 33,917,520 (GRCm39)		probably null	Het
Brwd1	A	T	16: 95,865,987 (GRCm39)	V265E	probably damaging	Het
Ccdc96	A	G	5: 36,643,718 (GRCm39)	I575V	probably damaging	Het
Cd109	A	T	9: 78,607,561 (GRCm39)	I1094L	probably benign	Het
Cd44	A	G	2: 102,692,015 (GRCm39)	V91A	probably damaging	Het
Cdv3	C	G	9: 103,241,202 (GRCm39)	G122R	probably damaging	Het
Ces2c	T	A	8: 105,577,533 (GRCm39)	V272D	possibly damaging	Het
Colgalt1	T	A	8: 72,075,754 (GRCm39)	M467K	probably damaging	Het
Crtam	G	A	9: 40,905,836 (GRCm39)	T31M	possibly damaging	Het
Cyp7a1	C	T	4: 6,272,371 (GRCm39)	V281M	possibly damaging	Het
Dnah7a	A	T	1: 53,659,829 (GRCm39)	N726K	probably benign	Het
Dok6	T	C	18: 89,439,142 (GRCm39)	E232G	possibly damaging	Het
Gm12185	T	C	11: 48,806,540 (GRCm39)	E217G	probably benign	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gria1	A	T	11: 57,180,111 (GRCm39)	Y618F	probably damaging	Het
H2-T22	A	G	17: 36,352,377 (GRCm39)	Y183H	probably benign	Het
Hace1	A	T	10: 45,546,487 (GRCm39)	I374L	probably benign	Het
Hif3a	T	A	7: 16,787,694 (GRCm39)	T132S	probably benign	Het
Hoxa3	T	A	6: 52,147,263 (GRCm39)		probably benign	Het
Il27	A	C	7: 126,188,535 (GRCm39)		probably benign	Het
Klhdc1	T	C	12: 69,297,548 (GRCm39)	Y40H	probably damaging	Het
Klhl33	T	G	14: 51,130,108 (GRCm39)	E462A	possibly damaging	Het
Myh10	T	C	11: 68,705,809 (GRCm39)	I1979T	probably benign	Het
Nfkbil1	G	T	17: 35,439,774 (GRCm39)	F246L	probably benign	Het
Nlrp1b	A	T	11: 71,072,572 (GRCm39)	F424I	probably damaging	Het
Nod1	A	G	6: 54,921,539 (GRCm39)	Y260H	probably damaging	Het
Ofcc1	A	G	13: 40,433,898 (GRCm39)	L69P	probably damaging	Het
Oprm1	A	C	10: 6,782,520 (GRCm39)	M388L	probably benign	Het
Or10q3	A	T	19: 11,848,226 (GRCm39)	I118N	possibly damaging	Het
Or1e26	T	C	11: 73,480,076 (GRCm39)	I163V	probably benign	Het
Or1o3	C	A	17: 37,574,539 (GRCm39)	Q5H	probably benign	Het
Or5aq1	T	C	2: 86,966,200 (GRCm39)	N155S	probably damaging	Het
Or5b96	A	C	19: 12,867,961 (GRCm39)		probably null	Het
Or8g53	A	G	9: 39,683,988 (GRCm39)	V36A	probably benign	Het
Pcdhgc5	T	A	18: 37,954,113 (GRCm39)	Y462*	probably null	Het
Pex1	T	A	5: 3,657,704 (GRCm39)	M425K	possibly damaging	Het
Plec	A	T	15: 76,070,105 (GRCm39)	Y1001N	probably damaging	Het
Poglut3	T	C	9: 53,307,195 (GRCm39)	Y380H	probably damaging	Het
Pou2f2	T	G	7: 24,796,869 (GRCm39)	K236Q	probably damaging	Het
Rbm20	G	A	19: 53,839,698 (GRCm39)	E896K	possibly damaging	Het
Sh3tc2	T	A	18: 62,123,081 (GRCm39)	L614Q	probably damaging	Het
Skint5	T	A	4: 113,751,029 (GRCm39)	I339F	unknown	Het
Slc2a7	T	C	4: 150,252,797 (GRCm39)	I479T	probably damaging	Het
Snrk	A	G	9: 121,986,288 (GRCm39)	N219S	probably damaging	Het
Supt20	T	C	3: 54,616,474 (GRCm39)	S245P	probably damaging	Het
Ttn	A	G	2: 76,591,636 (GRCm39)	I21011T	probably damaging	Het
Vmn2r11	T	A	5: 109,194,921 (GRCm39)	I802F	probably damaging	Het
Vmn2r92	T	C	17: 18,389,213 (GRCm39)		probably null	Het
Ythdc2	T	A	18: 45,019,320 (GRCm39)	M1363K	probably damaging	Het
Zan	T	C	5: 137,377,071 (GRCm39)		probably benign	Het
Zfp521	C	A	18: 13,850,681 (GRCm39)	C1261F	probably damaging	Het
Zfp980	A	T	4: 145,428,479 (GRCm39)	K403*	probably null	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
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

Predicted Primers

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

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

Posted On

2017-06-26