Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02554:Hr'

298454

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ensembl Gene

ENSMUSG00000022096

Gene Name

lysine demethylase and nuclear receptor corepressor

Synonyms

rh-bmh, rh, N, bldy, ba

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02554

Quality Score

Status

Chromosome

Chromosomal Location

70789652-70810988 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 70797306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022691] [ENSMUST00000161069] [ENSMUST00000163060]

AlphaFold

Q61645

Predicted Effect

probably benign
Transcript: ENSMUST00000022691

SMART Domains

Protein: ENSMUSP00000022691
Gene: ENSMUSG00000022096

Domain	Start	End	E-Value	Type
Blast:JmjC	54	849	N/A	BLAST
JmjC	939	1150	5.23e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161069

SMART Domains

Protein: ENSMUSP00000124816
Gene: ENSMUSG00000022096

Domain	Start	End	E-Value	Type
Blast:JmjC	54	849	N/A	BLAST
JmjC	939	1150	5.23e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163060

SMART Domains

Protein: ENSMUSP00000124042
Gene: ENSMUSG00000022096

Domain	Start	End	E-Value	Type
low complexity region	12	21	N/A	INTRINSIC
Blast:JmjC	83	878	N/A	BLAST
JmjC	968	1179	5.23e-38	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory ORF that exists upstream of the primary ORF. Mutations in this upstream ORF, U2HR, cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss in human. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mutant homozygotes exhibit hair loss, usually wrinkled skin with epidermal cysts. Females do not nurse their pups well. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	A	11: 48,838,830 (GRCm39)	M586L	probably damaging	Het
Abcg3	T	C	5: 105,117,318 (GRCm39)	D204G	possibly damaging	Het
Acox3	C	A	5: 35,765,710 (GRCm39)	L588I	probably damaging	Het
Adamts9	G	T	6: 92,857,828 (GRCm39)	L849I	probably benign	Het
Alkbh3	T	G	2: 93,826,692 (GRCm39)	T170P	probably damaging	Het
Anks1b	A	T	10: 90,757,240 (GRCm39)	H300L	probably damaging	Het
Arhgap29	T	C	3: 121,786,173 (GRCm39)		probably benign	Het
Brd8dc	A	G	18: 34,726,068 (GRCm39)	S112P	probably benign	Het
Cd86	C	T	16: 36,438,847 (GRCm39)	G181D	probably benign	Het
Cep68	A	T	11: 20,190,096 (GRCm39)	H305Q	possibly damaging	Het
Cimip4	A	G	15: 78,262,736 (GRCm39)	M245T	possibly damaging	Het
Clptm1l	A	T	13: 73,755,879 (GRCm39)	D165V	probably benign	Het
Dctn1	T	C	6: 83,159,704 (GRCm39)	Y61H	probably damaging	Het
Dnah7a	A	T	1: 53,657,205 (GRCm39)	M857K	possibly damaging	Het
Gpr158	A	G	2: 21,831,407 (GRCm39)	M836V	probably benign	Het
Gria1	G	T	11: 57,180,314 (GRCm39)	A755S	possibly damaging	Het
Helb	G	A	10: 119,925,617 (GRCm39)	T920M	probably damaging	Het
Igf2bp1	A	G	11: 95,864,994 (GRCm39)	S152P	probably damaging	Het
Iqsec1	T	C	6: 90,646,327 (GRCm39)	Y784C	probably damaging	Het
Ldah	T	A	12: 8,333,935 (GRCm39)	C275*	probably null	Het
Lpin3	T	C	2: 160,738,707 (GRCm39)	S220P	probably damaging	Het
Med23	T	C	10: 24,774,473 (GRCm39)		probably null	Het
Mllt1	T	C	17: 57,206,806 (GRCm39)	D346G	probably benign	Het
Myef2	A	C	2: 124,942,345 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,079,991 (GRCm39)	S1095G	probably benign	Het
Nav1	A	G	1: 135,512,651 (GRCm39)		silent	Het
Or10a3m	A	G	7: 108,312,949 (GRCm39)	M118V	possibly damaging	Het
Piwil2	G	A	14: 70,628,935 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,441,896 (GRCm39)	F3612I	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
S100pbp	A	T	4: 129,075,644 (GRCm39)		probably null	Het
Scnn1b	T	C	7: 121,516,746 (GRCm39)	I495T	probably damaging	Het
Sgo2b	A	C	8: 64,379,571 (GRCm39)	V1087G	probably damaging	Het
Sil1	A	T	18: 35,481,786 (GRCm39)	V91E	probably damaging	Het
Slc5a4b	A	G	10: 75,946,685 (GRCm39)	I29T	possibly damaging	Het
Spink5	A	T	18: 44,148,661 (GRCm39)	N908I	probably benign	Het
Svopl	A	C	6: 37,993,978 (GRCm39)	I351S	probably damaging	Het
Syngr3	A	G	17: 24,905,302 (GRCm39)	V198A	probably benign	Het
Tbck	C	A	3: 132,456,953 (GRCm39)	Y622*	probably null	Het
Tkt	T	A	14: 30,280,737 (GRCm39)	M56K	probably damaging	Het
Trip10	T	C	17: 57,570,135 (GRCm39)	V544A	probably damaging	Het
Txndc16	T	C	14: 45,409,995 (GRCm39)	E195G	probably damaging	Het
Vmn2r69	G	A	7: 85,059,014 (GRCm39)	P516S	probably damaging	Het
Vmn2r74	T	C	7: 85,606,581 (GRCm39)	N255S	probably benign	Het
Xpo4	T	C	14: 57,827,545 (GRCm39)	T884A	probably benign	Het
Zdhhc2	A	G	8: 40,915,155 (GRCm39)	N167S	probably damaging	Het

Other mutations in Hr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01805:Hr	APN	14	70,802,737 (GRCm39)	splice site	probably benign
IGL02020:Hr	APN	14	70,793,877 (GRCm39)	missense	probably benign	0.01
IGL02372:Hr	APN	14	70,795,790 (GRCm39)	missense	possibly damaging	0.94
IGL02380:Hr	APN	14	70,795,201 (GRCm39)	missense	probably damaging	0.98
IGL02949:Hr	APN	14	70,797,225 (GRCm39)	missense	possibly damaging	0.87
IGL03406:Hr	APN	14	70,800,860 (GRCm39)	critical splice donor site	probably null
angie	UTSW	14	70,805,273 (GRCm39)	missense	probably damaging	0.97
blofeld	UTSW	14	70,805,525 (GRCm39)	missense	probably damaging	1.00
general	UTSW	14	70,801,124 (GRCm39)	critical splice donor site	probably null
kaburo	UTSW	14	0 ()	unclassified
mister_clean	UTSW	14	70,797,504 (GRCm39)	critical splice donor site	probably benign
mushroom	UTSW	14	70,805,525 (GRCm39)	missense	probably damaging	1.00
prune	UTSW	14	70,808,869 (GRCm39)	missense	probably damaging	1.00
ren	UTSW	14	70,805,525 (GRCm39)	missense	probably damaging	1.00
subclinical	UTSW	14	70,799,276 (GRCm39)	missense	possibly damaging	0.89
vessel	UTSW	14	70,799,305 (GRCm39)	nonsense	probably null
yuanxiao	UTSW	14	70,808,888 (GRCm39)	missense	probably damaging	1.00
R0018:Hr	UTSW	14	70,795,717 (GRCm39)	missense	probably benign
R0038:Hr	UTSW	14	70,805,525 (GRCm39)	missense	probably damaging	1.00
R0374:Hr	UTSW	14	70,793,916 (GRCm39)	missense	probably benign	0.01
R0511:Hr	UTSW	14	70,799,352 (GRCm39)	nonsense	probably null
R0609:Hr	UTSW	14	70,797,097 (GRCm39)	missense	probably benign
R1828:Hr	UTSW	14	70,809,477 (GRCm39)	critical splice donor site	probably null
R2030:Hr	UTSW	14	70,808,888 (GRCm39)	missense	probably damaging	1.00
R2266:Hr	UTSW	14	70,795,547 (GRCm39)	missense	probably benign
R2267:Hr	UTSW	14	70,795,547 (GRCm39)	missense	probably benign
R2268:Hr	UTSW	14	70,795,547 (GRCm39)	missense	probably benign
R2377:Hr	UTSW	14	70,795,318 (GRCm39)	missense	probably damaging	1.00
R3686:Hr	UTSW	14	70,795,236 (GRCm39)	missense	probably damaging	0.98
R3687:Hr	UTSW	14	70,795,236 (GRCm39)	missense	probably damaging	0.98
R3754:Hr	UTSW	14	70,805,264 (GRCm39)	missense	probably damaging	1.00
R3803:Hr	UTSW	14	70,795,333 (GRCm39)	missense	probably benign	0.01
R3846:Hr	UTSW	14	70,808,893 (GRCm39)	missense	probably damaging	1.00
R3977:Hr	UTSW	14	70,801,024 (GRCm39)	missense	probably benign	0.01
R3978:Hr	UTSW	14	70,801,024 (GRCm39)	missense	probably benign	0.01
R3979:Hr	UTSW	14	70,801,024 (GRCm39)	missense	probably benign	0.01
R4528:Hr	UTSW	14	70,803,823 (GRCm39)	missense	probably damaging	1.00
R4654:Hr	UTSW	14	70,801,013 (GRCm39)	missense	probably damaging	0.99
R4834:Hr	UTSW	14	70,797,362 (GRCm39)	missense	probably damaging	0.98
R4847:Hr	UTSW	14	70,793,916 (GRCm39)	missense	probably benign	0.04
R4863:Hr	UTSW	14	70,809,412 (GRCm39)	missense	probably damaging	1.00
R5292:Hr	UTSW	14	70,809,432 (GRCm39)	missense	probably damaging	1.00
R5452:Hr	UTSW	14	70,794,067 (GRCm39)	missense	probably damaging	1.00
R5717:Hr	UTSW	14	70,803,616 (GRCm39)	missense	probably benign	0.34
R5902:Hr	UTSW	14	70,795,231 (GRCm39)	missense	probably benign	0.02
R6000:Hr	UTSW	14	70,805,273 (GRCm39)	missense	probably damaging	0.97
R6439:Hr	UTSW	14	70,799,276 (GRCm39)	missense	possibly damaging	0.89
R6823:Hr	UTSW	14	70,802,814 (GRCm39)	missense	probably damaging	0.98
R7030:Hr	UTSW	14	70,801,124 (GRCm39)	critical splice donor site	probably null
R7213:Hr	UTSW	14	70,795,790 (GRCm39)	missense	probably damaging	0.99
R7452:Hr	UTSW	14	70,808,926 (GRCm39)	missense	probably damaging	1.00
R7468:Hr	UTSW	14	70,795,652 (GRCm39)	missense	possibly damaging	0.89
R7572:Hr	UTSW	14	70,799,293 (GRCm39)	missense	possibly damaging	0.66
R7956:Hr	UTSW	14	70,797,327 (GRCm39)	missense	probably benign
R7996:Hr	UTSW	14	70,801,043 (GRCm39)	nonsense	probably null
R7997:Hr	UTSW	14	70,801,043 (GRCm39)	nonsense	probably null
R8076:Hr	UTSW	14	70,795,381 (GRCm39)	missense	probably benign	0.00
R8101:Hr	UTSW	14	70,805,282 (GRCm39)	missense	possibly damaging	0.67
R8553:Hr	UTSW	14	70,804,965 (GRCm39)	missense	probably damaging	1.00
R8749:Hr	UTSW	14	70,795,510 (GRCm39)	missense	probably damaging	1.00
R8850:Hr	UTSW	14	70,799,305 (GRCm39)	nonsense	probably null
R8949:Hr	UTSW	14	70,795,328 (GRCm39)	missense	probably benign	0.01
R9139:Hr	UTSW	14	70,795,079 (GRCm39)	missense	possibly damaging	0.65
R9236:Hr	UTSW	14	70,809,396 (GRCm39)	missense	probably damaging	1.00
R9246:Hr	UTSW	14	70,808,915 (GRCm39)	missense	probably damaging	1.00
R9327:Hr	UTSW	14	70,805,228 (GRCm39)	missense	possibly damaging	0.91
R9337:Hr	UTSW	14	70,797,324 (GRCm39)	missense	probably benign	0.00
R9487:Hr	UTSW	14	70,794,205 (GRCm39)	missense	possibly damaging	0.77
R9487:Hr	UTSW	14	70,793,877 (GRCm39)	missense	probably benign	0.01
R9700:Hr	UTSW	14	70,804,616 (GRCm39)	missense	probably benign	0.00
X0025:Hr	UTSW	14	70,804,391 (GRCm39)	splice site	probably null
X0026:Hr	UTSW	14	70,805,281 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16