Incidental Mutation 'IGL02380:Hr'
ID |
291326 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hr
|
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)
|
Stock # |
IGL02380
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
70789652-70810988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 70795201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 278
(R278G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124042
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022691]
[ENSMUST00000161069]
[ENSMUST00000163060]
|
AlphaFold |
Q61645 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022691
AA Change: R249G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022691 Gene: ENSMUSG00000022096 AA Change: R249G
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 damaging
Transcript: ENSMUST00000161069
AA Change: R249G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124816 Gene: ENSMUSG00000022096 AA Change: R249G
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 damaging
Transcript: ENSMUST00000163060
AA Change: R278G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124042 Gene: ENSMUSG00000022096 AA Change: R278G
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 |
4930433I11Rik |
C |
A |
7: 40,643,968 (GRCm39) |
P546T |
possibly damaging |
Het |
Abca13 |
T |
C |
11: 9,241,599 (GRCm39) |
I1154T |
possibly damaging |
Het |
Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
Acsm5 |
A |
T |
7: 119,136,509 (GRCm39) |
Q360L |
probably benign |
Het |
Adamtsl5 |
T |
C |
10: 80,177,612 (GRCm39) |
E350G |
probably benign |
Het |
Adgrl2 |
A |
T |
3: 148,534,125 (GRCm39) |
L1017* |
probably null |
Het |
Aqr |
T |
C |
2: 113,940,417 (GRCm39) |
D1243G |
probably damaging |
Het |
Arhgef17 |
G |
T |
7: 100,578,650 (GRCm39) |
P766Q |
possibly damaging |
Het |
Bclaf1 |
T |
C |
10: 20,201,113 (GRCm39) |
V413A |
possibly damaging |
Het |
Bcr |
A |
G |
10: 75,011,131 (GRCm39) |
D14G |
probably benign |
Het |
Cadps2 |
C |
T |
6: 23,287,731 (GRCm39) |
V1190I |
probably benign |
Het |
Cdh9 |
A |
G |
15: 16,856,086 (GRCm39) |
I709V |
possibly damaging |
Het |
Cnbd1 |
C |
A |
4: 18,887,748 (GRCm39) |
|
probably null |
Het |
Cnbd1 |
T |
A |
4: 18,887,749 (GRCm39) |
|
probably null |
Het |
Col4a3 |
T |
C |
1: 82,650,509 (GRCm39) |
|
probably benign |
Het |
Coro1a |
T |
A |
7: 126,302,288 (GRCm39) |
K20* |
probably null |
Het |
Crb2 |
T |
A |
2: 37,673,447 (GRCm39) |
D114E |
probably damaging |
Het |
Dnah6 |
C |
A |
6: 73,053,623 (GRCm39) |
K2870N |
probably benign |
Het |
Fpr3 |
A |
G |
17: 18,191,254 (GRCm39) |
H175R |
probably benign |
Het |
Gk5 |
T |
G |
9: 96,032,533 (GRCm39) |
S248A |
possibly damaging |
Het |
Grm4 |
T |
A |
17: 27,653,635 (GRCm39) |
I772F |
probably damaging |
Het |
Gstt4 |
A |
G |
10: 75,653,073 (GRCm39) |
I163T |
possibly damaging |
Het |
Igfbp5 |
T |
A |
1: 72,903,108 (GRCm39) |
R156* |
probably null |
Het |
Ighv1-4 |
G |
A |
12: 114,450,753 (GRCm39) |
|
probably benign |
Het |
Insyn2a |
A |
T |
7: 134,500,873 (GRCm39) |
|
probably null |
Het |
Kcna2 |
A |
C |
3: 107,012,274 (GRCm39) |
Q285P |
probably benign |
Het |
Klf5 |
A |
T |
14: 99,538,894 (GRCm39) |
R102S |
possibly damaging |
Het |
Ldb1 |
A |
T |
19: 46,022,929 (GRCm39) |
M252K |
possibly damaging |
Het |
Lrrc66 |
T |
C |
5: 73,787,009 (GRCm39) |
I114V |
possibly damaging |
Het |
Map1b |
A |
T |
13: 99,567,651 (GRCm39) |
I1690N |
unknown |
Het |
Myo1a |
A |
G |
10: 127,550,354 (GRCm39) |
T565A |
probably benign |
Het |
Nt5c |
T |
C |
11: 115,382,127 (GRCm39) |
D84G |
possibly damaging |
Het |
Pde1b |
A |
G |
15: 103,428,417 (GRCm39) |
N51S |
possibly damaging |
Het |
Pikfyve |
T |
A |
1: 65,295,180 (GRCm39) |
L1437Q |
probably damaging |
Het |
Pld5 |
C |
T |
1: 175,967,610 (GRCm39) |
V82I |
probably damaging |
Het |
Psmb6 |
T |
A |
11: 70,416,737 (GRCm39) |
N42K |
probably benign |
Het |
Slco3a1 |
G |
A |
7: 74,204,238 (GRCm39) |
S34F |
probably damaging |
Het |
Slfn9 |
A |
G |
11: 82,872,046 (GRCm39) |
Y897H |
probably benign |
Het |
Spag6l |
T |
C |
16: 16,581,033 (GRCm39) |
|
probably null |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tmem215 |
A |
T |
4: 40,474,534 (GRCm39) |
I204F |
probably benign |
Het |
Txnl1 |
A |
G |
18: 63,807,114 (GRCm39) |
|
probably null |
Het |
Ube2q2 |
T |
A |
9: 55,070,296 (GRCm39) |
D79E |
probably benign |
Het |
Ugt2a3 |
T |
C |
5: 87,484,658 (GRCm39) |
D122G |
probably benign |
Het |
Vmn2r73 |
A |
T |
7: 85,507,383 (GRCm39) |
I643K |
probably benign |
Het |
Xkrx |
T |
A |
X: 133,051,388 (GRCm39) |
H421L |
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 |
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 |
2015-04-16 |