Incidental Mutation 'IGL01805:Hr'
ID155665
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hr
Ensembl Gene ENSMUSG00000022096
Gene Namehairless
SynonymsALUNC, AU, N, ba, bldy, hr, rh, rh-bmh, rhino
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01805
Quality Score
Status
Chromosome14
Chromosomal Location70552212-70573548 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 70565297 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022691] [ENSMUST00000161069] [ENSMUST00000163060]
Predicted Effect probably benign
Transcript: ENSMUST00000022691
SMART Domains Protein: ENSMUSP00000022691
Gene: ENSMUSG00000022096

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,925,518 D17G possibly damaging Het
Adam28 G T 14: 68,642,091 S169R probably benign Het
Aox1 T C 1: 58,081,513 M855T possibly damaging Het
Apc C A 18: 34,318,218 N2688K probably benign Het
Arhgap23 T A 11: 97,492,602 probably benign Het
Bpifa6 A G 2: 153,984,912 T66A probably benign Het
C1qtnf1 T A 11: 118,448,167 L221Q probably damaging Het
Ccdc175 T A 12: 72,129,229 probably benign Het
Ccl1 C A 11: 82,178,132 M26I possibly damaging Het
D17Wsu92e C T 17: 27,767,906 probably benign Het
Dnah10 T A 5: 124,783,921 F2123I probably damaging Het
Dpcr1 T A 17: 35,637,643 T355S possibly damaging Het
Fancm T C 12: 65,113,861 probably null Het
Fstl4 C A 11: 53,186,357 A647E probably damaging Het
Hmgb4 G T 4: 128,260,222 probably benign Het
Kcna4 G T 2: 107,296,498 V526L probably damaging Het
Mas1 T C 17: 12,842,230 Y102C probably damaging Het
Mul1 C T 4: 138,439,663 P343S possibly damaging Het
Obscn T C 11: 59,132,596 S652G probably damaging Het
Olfr972 T C 9: 39,873,779 F168S probably damaging Het
Pjvk A T 2: 76,657,514 N250I probably benign Het
Pkd2 T C 5: 104,483,093 I461T probably benign Het
Psen2 T C 1: 180,229,838 probably null Het
Ralb T C 1: 119,475,995 E81G probably benign Het
Slc15a4 T C 5: 127,608,836 T261A possibly damaging Het
Vmn2r77 G A 7: 86,811,187 V574M probably benign Het
Xrn2 A G 2: 147,028,143 I251V probably damaging Het
Zfp974 G A 7: 27,912,264 probably benign Het
Other mutations in Hr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02020:Hr APN 14 70556437 missense probably benign 0.01
IGL02372:Hr APN 14 70558350 missense possibly damaging 0.94
IGL02380:Hr APN 14 70557761 missense probably damaging 0.98
IGL02554:Hr APN 14 70559866 splice site probably benign
IGL02949:Hr APN 14 70559785 missense possibly damaging 0.87
IGL03406:Hr APN 14 70563420 critical splice donor site probably null
angie UTSW 14 70567833 missense probably damaging 0.97
blofeld UTSW 14 70568085 missense probably damaging 1.00
general UTSW 14 70563684 critical splice donor site probably null
kaburo UTSW 14 unclassified
mister_clean UTSW 14 70560064 critical splice donor site probably benign
mushroom UTSW 14 70568085 missense probably damaging 1.00
prune UTSW 14 70571429 missense probably damaging 1.00
ren UTSW 14 70568085 missense probably damaging 1.00
subclinical UTSW 14 70561836 missense possibly damaging 0.89
yuanxiao UTSW 14 70571448 missense probably damaging 1.00
R0018:Hr UTSW 14 70558277 missense probably benign
R0038:Hr UTSW 14 70568085 missense probably damaging 1.00
R0374:Hr UTSW 14 70556476 missense probably benign 0.01
R0511:Hr UTSW 14 70561912 nonsense probably null
R0609:Hr UTSW 14 70559657 missense probably benign
R1828:Hr UTSW 14 70572037 critical splice donor site probably null
R2030:Hr UTSW 14 70571448 missense probably damaging 1.00
R2266:Hr UTSW 14 70558107 missense probably benign
R2267:Hr UTSW 14 70558107 missense probably benign
R2268:Hr UTSW 14 70558107 missense probably benign
R2377:Hr UTSW 14 70557878 missense probably damaging 1.00
R3686:Hr UTSW 14 70557796 missense probably damaging 0.98
R3687:Hr UTSW 14 70557796 missense probably damaging 0.98
R3754:Hr UTSW 14 70567824 missense probably damaging 1.00
R3803:Hr UTSW 14 70557893 missense probably benign 0.01
R3846:Hr UTSW 14 70571453 missense probably damaging 1.00
R3977:Hr UTSW 14 70563584 missense probably benign 0.01
R3978:Hr UTSW 14 70563584 missense probably benign 0.01
R3979:Hr UTSW 14 70563584 missense probably benign 0.01
R4528:Hr UTSW 14 70566383 missense probably damaging 1.00
R4654:Hr UTSW 14 70563573 missense probably damaging 0.99
R4834:Hr UTSW 14 70559922 missense probably damaging 0.98
R4847:Hr UTSW 14 70556476 missense probably benign 0.04
R4863:Hr UTSW 14 70571972 missense probably damaging 1.00
R5292:Hr UTSW 14 70571992 missense probably damaging 1.00
R5452:Hr UTSW 14 70556627 missense probably damaging 1.00
R5717:Hr UTSW 14 70566176 missense probably benign 0.34
R5902:Hr UTSW 14 70557791 missense probably benign 0.02
R6000:Hr UTSW 14 70567833 missense probably damaging 0.97
R6439:Hr UTSW 14 70561836 missense possibly damaging 0.89
R6823:Hr UTSW 14 70565374 missense probably damaging 0.98
R7030:Hr UTSW 14 70563684 critical splice donor site probably null
R7213:Hr UTSW 14 70558350 missense probably damaging 0.99
R7452:Hr UTSW 14 70571486 missense probably damaging 1.00
R7468:Hr UTSW 14 70558212 missense possibly damaging 0.89
R7572:Hr UTSW 14 70561853 missense possibly damaging 0.66
R7956:Hr UTSW 14 70559887 missense probably benign
R7996:Hr UTSW 14 70563603 nonsense probably null
R7997:Hr UTSW 14 70563603 nonsense probably null
R8076:Hr UTSW 14 70557941 missense probably benign 0.00
R8101:Hr UTSW 14 70567842 missense possibly damaging 0.67
R8553:Hr UTSW 14 70567525 missense probably damaging 1.00
R8749:Hr UTSW 14 70558070 missense probably damaging 1.00
R8850:Hr UTSW 14 70561865 nonsense probably null
R8949:Hr UTSW 14 70557888 missense probably benign 0.01
X0025:Hr UTSW 14 70566951 splice site probably null
X0026:Hr UTSW 14 70567841 missense probably damaging 0.99
Posted On2014-02-04