Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03406:Hr'

421618

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 #

IGL03406

Quality Score

Status

Chromosome

Chromosomal Location

70789652-70810988 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 70800860 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 null
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 null
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 null
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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530016L24Rik	T	A	12: 112,463,317 (GRCm39)		probably null	Het
Adcy7	C	T	8: 89,044,947 (GRCm39)	R228*	probably null	Het
Cdcp1	T	C	9: 123,014,378 (GRCm39)	H132R	probably benign	Het
Cfap107	A	G	4: 144,150,414 (GRCm39)	Y56H	probably damaging	Het
Cyp4a32	T	C	4: 115,459,500 (GRCm39)	I78T	probably benign	Het
Fap	A	T	2: 62,372,466 (GRCm39)		probably benign	Het
Gad1-ps	C	T	10: 99,280,641 (GRCm39)		noncoding transcript	Het
Gli3	T	C	13: 15,823,166 (GRCm39)	I296T	probably damaging	Het
H2-Q2	T	C	17: 35,561,801 (GRCm39)	V97A	probably benign	Het
Itgax	C	T	7: 127,748,370 (GRCm39)	T1133I	possibly damaging	Het
L3mbtl2	G	A	15: 81,566,194 (GRCm39)	R339H	probably damaging	Het
Mast4	T	C	13: 102,873,615 (GRCm39)	K1726E	possibly damaging	Het
Nlrc5	T	C	8: 95,203,483 (GRCm39)	Y528H	probably benign	Het
Nmnat3	G	A	9: 98,281,530 (GRCm39)	G44D	probably damaging	Het
Nol8	A	T	13: 49,815,044 (GRCm39)	D366V	probably damaging	Het
Or13a25	C	A	7: 140,247,424 (GRCm39)	L68M	probably damaging	Het
Pde4d	A	T	13: 110,091,125 (GRCm39)		probably benign	Het
Ptpn22	C	A	3: 103,819,332 (GRCm39)	N795K	probably benign	Het
Rabgap1l	A	T	1: 160,549,739 (GRCm39)	V289D	probably damaging	Het
Slc50a1	T	C	3: 89,177,408 (GRCm39)	D40G	possibly damaging	Het
Slco6b1	T	C	1: 96,875,310 (GRCm39)		noncoding transcript	Het
Smarcad1	T	A	6: 65,069,510 (GRCm39)	F530Y	probably damaging	Het
Spag6	A	G	2: 18,747,684 (GRCm39)		probably benign	Het
Supt16	A	T	14: 52,415,598 (GRCm39)	I379N	possibly damaging	Het
Tmem154	A	G	3: 84,591,567 (GRCm39)	N39S	probably benign	Het
Ubash3b	T	A	9: 40,948,775 (GRCm39)	Y180F	probably damaging	Het
Usp48	T	A	4: 137,366,606 (GRCm39)	D921E	possibly damaging	Het
Zdhhc20	T	C	14: 58,076,556 (GRCm39)	T366A	probably benign	Het
Zfp456	A	T	13: 67,514,450 (GRCm39)	C419S	probably damaging	Het
Zfp69	T	C	4: 120,788,281 (GRCm39)	T345A	probably benign	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
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
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

2016-08-02