Incidental Mutation 'R2266:Hr'
| ID |
242064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hr
|
| Ensembl Gene |
ENSMUSG00000022096 |
| Gene Name |
lysine demethylase and nuclear receptor corepressor |
| Synonyms |
rh-bmh, rh, N, bldy, ba |
| MMRRC Submission |
040266-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2266 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70789652-70810988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70795547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 393
(D393V)
|
| 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: D364V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022691
Gene: ENSMUSG00000022096
AA Change: D364V
| 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: D364V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124816
Gene: ENSMUSG00000022096
AA Change: D364V
| 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: D393V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124042
Gene: ENSMUSG00000022096
AA Change: D393V
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (68/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
A |
3: 59,944,737 (GRCm39) |
D136E |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,263,675 (GRCm39) |
G173R |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,065,475 (GRCm39) |
F4115S |
possibly damaging |
Het |
| Bsn |
T |
A |
9: 107,992,323 (GRCm39) |
D1143V |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,390,479 (GRCm39) |
V317A |
probably damaging |
Het |
| Cdh1 |
G |
A |
8: 107,388,635 (GRCm39) |
V564I |
probably benign |
Het |
| Cep250 |
T |
C |
2: 155,818,090 (GRCm39) |
V814A |
probably benign |
Het |
| Ces2a |
A |
T |
8: 105,466,822 (GRCm39) |
I65F |
probably benign |
Het |
| Commd8 |
A |
G |
5: 72,322,765 (GRCm39) |
W51R |
probably damaging |
Het |
| Cyb561d1 |
A |
T |
3: 108,106,720 (GRCm39) |
H166Q |
probably damaging |
Het |
| Dcun1d4 |
T |
A |
5: 73,638,618 (GRCm39) |
|
probably benign |
Het |
| Dgkd |
A |
G |
1: 87,855,540 (GRCm39) |
|
probably benign |
Het |
| Dipk2b |
A |
G |
X: 18,289,926 (GRCm39) |
S179P |
possibly damaging |
Het |
| Dnajc28 |
T |
C |
16: 91,413,200 (GRCm39) |
N372S |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,830,332 (GRCm39) |
|
probably null |
Het |
| Eid1 |
A |
G |
2: 125,515,344 (GRCm39) |
D78G |
possibly damaging |
Het |
| Emid1 |
T |
A |
11: 5,094,331 (GRCm39) |
Q60L |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,067,878 (GRCm39) |
V801E |
probably benign |
Het |
| Foxh1 |
A |
G |
15: 76,552,820 (GRCm39) |
V298A |
probably benign |
Het |
| Foxn4 |
T |
C |
5: 114,393,662 (GRCm39) |
T486A |
probably damaging |
Het |
| Gpc6 |
A |
T |
14: 118,125,932 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
C |
T |
5: 143,371,847 (GRCm39) |
P690L |
probably benign |
Het |
| H2bc9 |
T |
C |
13: 23,727,162 (GRCm39) |
K121E |
possibly damaging |
Het |
| Hdhd2 |
C |
T |
18: 77,052,866 (GRCm39) |
T172M |
probably benign |
Het |
| Ido2 |
T |
C |
8: 25,025,268 (GRCm39) |
Y253C |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klra10 |
A |
G |
6: 130,246,264 (GRCm39) |
V237A |
probably benign |
Het |
| Klre1 |
A |
G |
6: 129,562,593 (GRCm39) |
K206R |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,862,793 (GRCm39) |
D2990G |
probably benign |
Het |
| Magi3 |
G |
A |
3: 103,928,382 (GRCm39) |
|
probably benign |
Het |
| Mamdc2 |
A |
T |
19: 23,281,267 (GRCm39) |
|
probably benign |
Het |
| Med23 |
T |
G |
10: 24,750,499 (GRCm39) |
S109A |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mtss2 |
A |
G |
8: 111,455,362 (GRCm39) |
K92E |
possibly damaging |
Het |
| Mybphl |
A |
G |
3: 108,272,317 (GRCm39) |
E2G |
probably damaging |
Het |
| Naip6 |
A |
G |
13: 100,420,067 (GRCm39) |
V1401A |
possibly damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,393,296 (GRCm39) |
E500G |
probably damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,282,575 (GRCm39) |
I775V |
probably benign |
Het |
| Nr4a2 |
T |
A |
2: 57,002,018 (GRCm39) |
D145V |
possibly damaging |
Het |
| Ntmt1 |
C |
A |
2: 30,710,472 (GRCm39) |
N58K |
probably benign |
Het |
| P2ry13 |
T |
C |
3: 59,117,449 (GRCm39) |
M110V |
probably damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,992 (GRCm39) |
N165S |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,077,461 (GRCm39) |
E423G |
probably benign |
Het |
| Polq |
C |
A |
16: 36,882,515 (GRCm39) |
Q1560K |
possibly damaging |
Het |
| Prrc1 |
G |
T |
18: 57,514,718 (GRCm39) |
D312Y |
probably damaging |
Het |
| Ptprm |
A |
T |
17: 67,032,846 (GRCm39) |
|
probably null |
Het |
| Ripk2 |
A |
T |
4: 16,152,011 (GRCm39) |
S183T |
possibly damaging |
Het |
| Robo1 |
T |
A |
16: 72,775,660 (GRCm39) |
F728L |
probably benign |
Het |
| Rttn |
A |
G |
18: 89,082,295 (GRCm39) |
N1407S |
probably benign |
Het |
| Sec14l1 |
A |
T |
11: 117,047,314 (GRCm39) |
H664L |
probably damaging |
Het |
| Slc10a7 |
G |
A |
8: 79,236,264 (GRCm39) |
G21S |
probably benign |
Het |
| Slc35a3 |
T |
C |
3: 116,467,285 (GRCm39) |
K325E |
possibly damaging |
Het |
| Spag17 |
C |
A |
3: 99,969,182 (GRCm39) |
|
probably null |
Het |
| Spesp1 |
A |
T |
9: 62,180,834 (GRCm39) |
L25M |
probably damaging |
Het |
| St6galnac1 |
G |
A |
11: 116,658,673 (GRCm39) |
Q264* |
probably null |
Het |
| Tbc1d14 |
A |
G |
5: 36,700,561 (GRCm39) |
L269P |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,300,506 (GRCm39) |
E228G |
probably benign |
Het |
| Tlr5 |
T |
A |
1: 182,802,600 (GRCm39) |
S635T |
possibly damaging |
Het |
| Tmem233 |
G |
C |
5: 116,189,517 (GRCm39) |
|
probably benign |
Het |
| Tnfsf13b |
A |
T |
8: 10,057,306 (GRCm39) |
R125S |
probably benign |
Het |
| Tymp |
A |
T |
15: 89,258,011 (GRCm39) |
V378D |
probably damaging |
Het |
| Vmn1r38 |
G |
T |
6: 66,753,433 (GRCm39) |
Q228K |
probably benign |
Het |
| Vmn2r18 |
T |
C |
5: 151,510,127 (GRCm39) |
E82G |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,828,229 (GRCm39) |
V1461A |
possibly damaging |
Het |
| Xrn1 |
A |
G |
9: 95,888,765 (GRCm39) |
D948G |
possibly damaging |
Het |
| Zfp280d |
C |
A |
9: 72,209,052 (GRCm39) |
|
probably benign |
Het |
| Zfp418 |
G |
A |
7: 7,185,807 (GRCm39) |
R590K |
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 |
|
|
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 |
|
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'- TGGTTCACAGTCTTGGCAAC -3'
(R):5'- TGATGCTCCTTGGACCTCTG -3'
Sequencing Primer
(F):5'- CCAGGAAGTAATAGCCTTGGGTAC -3'
(R):5'- TTGGACCTCTGGACTGCCTG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation