Mutagenetix > Incidental Mutation

Incidental Mutation 'R0609:Hr'

54557

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000022096

Gene Name

lysine demethylase and nuclear receptor corepressor

Synonyms

rh-bmh, rh, N, bldy, ba

MMRRC Submission

038798-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0609 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70789652-70810988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70797097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 500 (I500T)

Ref Sequence

ENSEMBL: ENSMUSP00000124042 (fasta)

Gene Model

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

AlphaFold

Q61645

Predicted Effect

probably benign
Transcript: ENSMUST00000022691
AA Change: I471T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022691
Gene: ENSMUSG00000022096
AA Change: I471T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159959

Predicted Effect

probably benign
Transcript: ENSMUST00000161069
AA Change: I471T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124816
Gene: ENSMUSG00000022096
AA Change: I471T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161468

Predicted Effect

probably benign
Transcript: ENSMUST00000163060
AA Change: I500T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124042
Gene: ENSMUSG00000022096
AA Change: I500T

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

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	T	14: 35,533,418 (GRCm39)		probably null	Het
Abcb4	T	A	5: 8,997,376 (GRCm39)	C952S	probably damaging	Het
Adamtsl2	A	G	2: 26,979,647 (GRCm39)	D272G	probably benign	Het
Aim2	G	A	1: 173,289,530 (GRCm39)	D158N	probably damaging	Het
Aldh3b1	C	T	19: 3,964,024 (GRCm39)	R426H	probably damaging	Het
Apoc2	A	G	7: 19,407,278 (GRCm39)	S28P	probably benign	Het
Arfgef3	G	A	10: 18,473,179 (GRCm39)	T1628I	probably benign	Het
Atp10a	G	A	7: 58,469,488 (GRCm39)		probably null	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Bmp8b	T	A	4: 123,015,692 (GRCm39)	D226E	probably benign	Het
Brsk2	T	C	7: 141,552,229 (GRCm39)	Y618H	probably damaging	Het
Casp12	T	A	9: 5,346,554 (GRCm39)	F27Y	probably damaging	Het
Casp8	T	A	1: 58,883,951 (GRCm39)	N439K	probably benign	Het
Ccdc175	T	A	12: 72,204,281 (GRCm39)	K253N	probably benign	Het
Cdc42bpa	A	G	1: 179,867,744 (GRCm39)	H193R	probably damaging	Het
Cdk17	T	C	10: 93,052,334 (GRCm39)	M105T	probably benign	Het
Cdon	C	A	9: 35,389,907 (GRCm39)	P854T	probably damaging	Het
Cep44	A	G	8: 56,997,187 (GRCm39)	M117T	possibly damaging	Het
Cep89	A	T	7: 35,134,955 (GRCm39)	E674D	probably damaging	Het
Cit	C	T	5: 116,012,002 (GRCm39)	A203V	probably damaging	Het
Clstn1	C	A	4: 149,713,757 (GRCm39)		probably null	Het
Col7a1	T	A	9: 108,787,215 (GRCm39)	D565E	unknown	Het
Cpb1	T	A	3: 20,316,638 (GRCm39)	Y304F	probably damaging	Het
Cps1	T	G	1: 67,211,961 (GRCm39)	Y710D	probably damaging	Het
Creb3l1	T	C	2: 91,817,398 (GRCm39)	T372A	possibly damaging	Het
Dars1	A	G	1: 128,333,118 (GRCm39)	V102A	probably benign	Het
Dhx35	C	T	2: 158,659,335 (GRCm39)	T168I	possibly damaging	Het
Dnah5	T	C	15: 28,327,925 (GRCm39)	S2100P	probably benign	Het
Dst	T	C	1: 34,306,041 (GRCm39)		probably null	Het
Egflam	A	C	15: 7,283,004 (GRCm39)	L351R	possibly damaging	Het
Elp2	T	A	18: 24,759,213 (GRCm39)	D523E	probably benign	Het
Exo5	C	A	4: 120,778,881 (GRCm39)	G328V	probably damaging	Het
Fut9	A	G	4: 25,620,811 (GRCm39)	M1T	probably null	Het
Galnt5	A	G	2: 57,914,637 (GRCm39)	N584S	possibly damaging	Het
Gbp3	T	C	3: 142,273,533 (GRCm39)	V360A	probably damaging	Het
Gdf6	G	A	4: 9,859,977 (GRCm39)	C353Y	probably damaging	Het
Hace1	A	G	10: 45,524,965 (GRCm39)	T244A	probably damaging	Het
Ifnl2	A	T	7: 28,208,707 (GRCm39)	L115Q	probably damaging	Het
Iigp1	T	C	18: 60,522,896 (GRCm39)	F5L	probably benign	Het
Inhbb	A	G	1: 119,345,146 (GRCm39)	L381P	probably damaging	Het
Irx3	A	T	8: 92,527,721 (GRCm39)	S50T	probably benign	Het
Ivns1abp	C	T	1: 151,235,896 (GRCm39)	T363I	probably benign	Het
Izumo1	A	T	7: 45,272,323 (GRCm39)	T35S	probably benign	Het
Kank4	A	G	4: 98,665,342 (GRCm39)	S651P	probably damaging	Het
Kit	T	C	5: 75,771,539 (GRCm39)	V232A	probably benign	Het
Klhl11	T	C	11: 100,354,540 (GRCm39)	Y427C	probably damaging	Het
Laptm4b	T	A	15: 34,258,835 (GRCm39)	N36K	probably damaging	Het
Lrrk1	T	C	7: 65,916,363 (GRCm39)		probably null	Het
Mamdc4	G	T	2: 25,454,205 (GRCm39)	Q1042K	probably benign	Het
Mical2	A	G	7: 111,920,647 (GRCm39)		probably null	Het
Ms4a3	C	A	19: 11,608,725 (GRCm39)	V176F	possibly damaging	Het
Myo3a	T	C	2: 22,338,324 (GRCm39)	V427A	probably benign	Het
Myo3a	A	C	2: 22,401,110 (GRCm39)	E626D	possibly damaging	Het
Nckap5	A	T	1: 125,955,025 (GRCm39)	L509*	probably null	Het
Ndufa5	A	T	6: 24,519,248 (GRCm39)	D64E	possibly damaging	Het
Nedd4l	T	C	18: 65,341,532 (GRCm39)	Y753H	probably damaging	Het
Nynrin	T	C	14: 56,110,218 (GRCm39)	V1775A	probably damaging	Het
Oplah	A	G	15: 76,187,192 (GRCm39)	S570P	probably benign	Het
Or14c39	T	C	7: 86,344,084 (GRCm39)	V140A	possibly damaging	Het
Or2ag1b	A	T	7: 106,288,205 (GRCm39)	H244Q	probably damaging	Het
Or4q3	T	C	14: 50,583,383 (GRCm39)	Y141C	probably damaging	Het
Or5t18	A	G	2: 86,637,205 (GRCm39)	L46S	probably damaging	Het
Or9r3	G	A	10: 129,948,449 (GRCm39)	S70F	probably damaging	Het
Osbpl11	C	A	16: 33,054,814 (GRCm39)	Y632*	probably null	Het
Osbpl5	A	T	7: 143,248,558 (GRCm39)	L644Q	probably damaging	Het
Pcdhb19	T	C	18: 37,631,005 (GRCm39)	W267R	probably benign	Het
Pkhd1l1	A	C	15: 44,330,820 (GRCm39)	S132R	possibly damaging	Het
Pramel23	A	T	4: 143,425,073 (GRCm39)	D123E	probably benign	Het
Ptpn13	T	A	5: 103,704,011 (GRCm39)	S1348T	probably benign	Het
Rc3h1	T	A	1: 160,757,705 (GRCm39)	W8R	probably damaging	Het
Rgs3	T	G	4: 62,544,173 (GRCm39)	V315G	probably damaging	Het
Rora	T	A	9: 69,269,151 (GRCm39)	M82K	probably damaging	Het
Rph3al	T	C	11: 75,799,795 (GRCm39)	I55V	probably benign	Het
Sag	T	C	1: 87,740,713 (GRCm39)	V45A	probably damaging	Het
Scn3a	T	C	2: 65,366,854 (GRCm39)	E56G	probably damaging	Het
Sec24c	T	G	14: 20,737,016 (GRCm39)	V324G	probably damaging	Het
Sptbn1	A	G	11: 30,088,979 (GRCm39)	L748S	probably damaging	Het
Stard9	A	T	2: 120,536,787 (GRCm39)	D4186V	probably damaging	Het
Stk39	T	C	2: 68,196,511 (GRCm39)	E306G	probably damaging	Het
Sycp1	C	A	3: 102,806,165 (GRCm39)		probably null	Het
Taf2	A	C	15: 54,923,446 (GRCm39)	L277R	probably damaging	Het
Tasor	C	T	14: 27,183,707 (GRCm39)	T722I	probably benign	Het
Tbc1d23	T	A	16: 56,993,469 (GRCm39)	I566F	possibly damaging	Het
Tekt5	T	C	16: 10,179,168 (GRCm39)	T400A	possibly damaging	Het
Tgfbrap1	T	C	1: 43,099,301 (GRCm39)	H401R	probably benign	Het
Tie1	T	A	4: 118,333,344 (GRCm39)	I841L	possibly damaging	Het
Tln1	T	G	4: 43,544,645 (GRCm39)	T1095P	possibly damaging	Het
Tmem147	A	G	7: 30,427,527 (GRCm39)	Y72H	probably benign	Het
Tnfaip2	A	G	12: 111,419,941 (GRCm39)	N691S	probably benign	Het
Trim24	G	A	6: 37,934,718 (GRCm39)	C811Y	probably damaging	Het
Trim30b	T	A	7: 104,007,183 (GRCm39)		probably benign	Het
Trpc4	T	G	3: 54,102,189 (GRCm39)	L29R	probably damaging	Het
Trpm6	A	T	19: 18,803,226 (GRCm39)	I890F	probably damaging	Het
Ttc23l	C	T	15: 10,504,622 (GRCm39)	E442K	probably benign	Het
Tut7	A	T	13: 59,947,596 (GRCm39)	C506*	probably null	Het
Uggt2	A	G	14: 119,332,748 (GRCm39)	V62A	probably damaging	Het
Ugt1a6a	C	A	1: 88,066,606 (GRCm39)	S137R	probably benign	Het
Unc13a	A	G	8: 72,111,111 (GRCm39)	Y367H	probably damaging	Het
Vmn2r49	A	G	7: 9,710,233 (GRCm39)	I833T	probably benign	Het
Vmn2r7	T	C	3: 64,623,900 (GRCm39)	D231G	probably benign	Het
Ythdc2	A	T	18: 44,997,424 (GRCm39)	M994L	probably benign	Het
Zfp804a	G	A	2: 82,087,932 (GRCm39)	S587N	probably damaging	Het
Zswim2	A	G	2: 83,754,003 (GRCm39)	I219T	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTCCTAGAGACTTGGGCTGAAC -3'
(R):5'- CTTCTTCGGAAGTGGCAGAGGAATC -3'

Sequencing Primer
(F):5'- CTTGGGCTGAACATGCTAAAC -3'
(R):5'- TGGCAGAGGAATCCTCCTCC -3'

Posted On

2013-07-11