Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01805:Hr'

155665

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 #

IGL01805

Quality Score

Status

Chromosome

Chromosomal Location

70789652-70810988 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 70802737 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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,677 (GRCm39)	D17G	possibly damaging	Het
Adam28	G	T	14: 68,879,540 (GRCm39)	S169R	probably benign	Het
Aox1	T	C	1: 58,120,672 (GRCm39)	M855T	possibly damaging	Het
Apc	C	A	18: 34,451,271 (GRCm39)	N2688K	probably benign	Het
Arhgap23	T	A	11: 97,383,428 (GRCm39)		probably benign	Het
Bpifa6	A	G	2: 153,826,832 (GRCm39)	T66A	probably benign	Het
C1qtnf1	T	A	11: 118,338,993 (GRCm39)	L221Q	probably damaging	Het
Ccdc175	T	A	12: 72,176,003 (GRCm39)		probably benign	Het
Ccl1	C	A	11: 82,068,958 (GRCm39)	M26I	possibly damaging	Het
Dnah10	T	A	5: 124,860,985 (GRCm39)	F2123I	probably damaging	Het
Fancm	T	C	12: 65,160,635 (GRCm39)		probably null	Het
Fstl4	C	A	11: 53,077,184 (GRCm39)	A647E	probably damaging	Het
Hmgb4	G	T	4: 128,154,015 (GRCm39)		probably benign	Het
Ilrun	C	T	17: 27,986,880 (GRCm39)		probably benign	Het
Kcna4	G	T	2: 107,126,843 (GRCm39)	V526L	probably damaging	Het
Mas1	T	C	17: 13,061,117 (GRCm39)	Y102C	probably damaging	Het
Mucl3	T	A	17: 35,948,535 (GRCm39)	T355S	possibly damaging	Het
Mul1	C	T	4: 138,166,974 (GRCm39)	P343S	possibly damaging	Het
Obscn	T	C	11: 59,023,422 (GRCm39)	S652G	probably damaging	Het
Or8g55	T	C	9: 39,785,075 (GRCm39)	F168S	probably damaging	Het
Pjvk	A	T	2: 76,487,858 (GRCm39)	N250I	probably benign	Het
Pkd2	T	C	5: 104,630,959 (GRCm39)	I461T	probably benign	Het
Psen2	T	C	1: 180,057,403 (GRCm39)		probably null	Het
Ralb	T	C	1: 119,403,725 (GRCm39)	E81G	probably benign	Het
Slc15a4	T	C	5: 127,685,900 (GRCm39)	T261A	possibly damaging	Het
Vmn2r77	G	A	7: 86,460,395 (GRCm39)	V574M	probably benign	Het
Xrn2	A	G	2: 146,870,063 (GRCm39)	I251V	probably damaging	Het
Zfp974	G	A	7: 27,611,689 (GRCm39)		probably benign	Het

Other mutations in Hr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02554:Hr	APN	14	70,797,306 (GRCm39)	splice site	probably benign
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

2014-02-04