Incidental Mutation 'R6546:Rchy1'
ID |
521182 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rchy1
|
Ensembl Gene |
ENSMUSG00000029397 |
Gene Name |
ring finger and CHY zinc finger domain containing 1 |
Synonyms |
6720407C15Rik, PRO1996, Pirh2, Zfp363 |
MMRRC Submission |
045325-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.590)
|
Stock # |
R6546 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
92096763-92110927 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 92105817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 44
(H44Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031345
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031345]
[ENSMUST00000169948]
|
AlphaFold |
Q9CR50 |
PDB Structure |
Solution structure of the CHY zinc finger domain of the RING finger and CHY zinc finger domain-containing protein 1 from Mus musculus [SOLUTION NMR]
Solution structure of the RING domain of the RING finger and CHY zinc finger domain-containing protein 1 from Mus musculus [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031345
AA Change: H44Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031345 Gene: ENSMUSG00000029397 AA Change: H44Y
Domain | Start | End | E-Value | Type |
Pfam:zf-CHY
|
20 |
93 |
2.2e-24 |
PFAM |
low complexity region
|
119 |
130 |
N/A |
INTRINSIC |
RING
|
145 |
186 |
1.38e-7 |
SMART |
Pfam:zinc_ribbon_6
|
191 |
249 |
6.6e-32 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140670
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169948
|
SMART Domains |
Protein: ENSMUSP00000131270 Gene: ENSMUSG00000029397
Domain | Start | End | E-Value | Type |
PDB:2DKT|A
|
10 |
99 |
2e-41 |
PDB |
RING
|
105 |
146 |
1.38e-7 |
SMART |
Pfam:zinc_ribbon_6
|
150 |
210 |
3.1e-33 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192174
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192939
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200905
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193925
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202883
|
Meta Mutation Damage Score |
0.9460 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
100% (35/35) |
MGI Phenotype |
FUNCTION: This gene encodes a protein containing CHY-, CTCHY-, and RING-type zinc-fingers. The encoded protein functions as an E3 ubiquitin ligase, and mediates the degradation of target proteins such as p53. The activity of this protein is important in cell cycle regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] PHENOTYPE: Mouse embryonic fibroblasts from mice homozygous for a knock-out allele exhibit decreased cellular sensitivity to UV irradiation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl3 |
T |
A |
6: 34,776,234 (GRCm39) |
L242M |
probably damaging |
Het |
Atad2b |
A |
T |
12: 5,040,949 (GRCm39) |
H206L |
probably damaging |
Het |
Bmp2k |
A |
G |
5: 97,235,937 (GRCm39) |
Q1120R |
probably benign |
Het |
Cdk18 |
G |
A |
1: 132,050,088 (GRCm39) |
T29I |
probably damaging |
Het |
Chrna3 |
T |
A |
9: 54,923,185 (GRCm39) |
I208F |
probably damaging |
Het |
Dhrs1 |
G |
A |
14: 55,978,729 (GRCm39) |
P140S |
possibly damaging |
Het |
Dnah14 |
C |
T |
1: 181,566,552 (GRCm39) |
R2775C |
probably damaging |
Het |
Fnip1 |
T |
G |
11: 54,393,437 (GRCm39) |
N600K |
probably benign |
Het |
Garin5b |
T |
C |
7: 4,761,464 (GRCm39) |
D416G |
probably benign |
Het |
Jmjd6 |
T |
C |
11: 116,733,326 (GRCm39) |
Y117C |
probably damaging |
Het |
Kbtbd4 |
T |
A |
2: 90,739,635 (GRCm39) |
V340E |
probably damaging |
Het |
Kif26b |
T |
C |
1: 178,755,871 (GRCm39) |
V1995A |
probably damaging |
Het |
Krt10 |
T |
C |
11: 99,278,221 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
C |
4: 123,326,074 (GRCm39) |
D3022G |
probably benign |
Het |
Map3k13 |
C |
T |
16: 21,740,527 (GRCm39) |
T618I |
probably benign |
Het |
Mat1a |
G |
A |
14: 40,843,379 (GRCm39) |
V302M |
probably damaging |
Het |
Med13l |
T |
C |
5: 118,859,539 (GRCm39) |
F242S |
probably damaging |
Het |
Npffr2 |
A |
T |
5: 89,730,871 (GRCm39) |
K267M |
probably damaging |
Het |
Nup58 |
A |
T |
14: 60,460,672 (GRCm39) |
|
probably null |
Het |
Papss2 |
A |
G |
19: 32,640,548 (GRCm39) |
Y440C |
possibly damaging |
Het |
Ppil4 |
T |
A |
10: 7,674,186 (GRCm39) |
I110N |
probably damaging |
Het |
Qrfpr |
G |
A |
3: 36,234,414 (GRCm39) |
T309I |
probably damaging |
Het |
Rbl2 |
C |
A |
8: 91,796,998 (GRCm39) |
S65R |
probably benign |
Het |
Slc19a3 |
T |
C |
1: 83,004,081 (GRCm39) |
T7A |
probably benign |
Het |
St7 |
C |
T |
6: 17,852,313 (GRCm39) |
A233V |
probably damaging |
Het |
Syn2 |
T |
A |
6: 115,258,059 (GRCm39) |
S546T |
probably benign |
Het |
Syne1 |
A |
T |
10: 5,168,645 (GRCm39) |
Y5245* |
probably null |
Het |
Trmt6 |
A |
G |
2: 132,654,073 (GRCm39) |
W52R |
probably benign |
Het |
Ubr4 |
G |
A |
4: 139,141,705 (GRCm39) |
V1264M |
probably damaging |
Het |
Ulk4 |
A |
T |
9: 120,970,960 (GRCm39) |
V1004D |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r27 |
T |
A |
6: 124,169,369 (GRCm39) |
H587L |
possibly damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,652,741 (GRCm39) |
R478G |
probably benign |
Het |
Zp2 |
T |
C |
7: 119,731,748 (GRCm39) |
E669G |
probably benign |
Het |
|
Other mutations in Rchy1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02471:Rchy1
|
APN |
5 |
92,105,405 (GRCm39) |
nonsense |
probably null |
|
IGL02668:Rchy1
|
APN |
5 |
92,110,577 (GRCm39) |
start codon destroyed |
probably null |
0.43 |
IGL03251:Rchy1
|
APN |
5 |
92,110,502 (GRCm39) |
missense |
probably benign |
0.08 |
R0137:Rchy1
|
UTSW |
5 |
92,105,458 (GRCm39) |
missense |
probably benign |
0.01 |
R0959:Rchy1
|
UTSW |
5 |
92,105,476 (GRCm39) |
missense |
probably damaging |
0.99 |
R1462:Rchy1
|
UTSW |
5 |
92,105,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R1462:Rchy1
|
UTSW |
5 |
92,105,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R1531:Rchy1
|
UTSW |
5 |
92,103,474 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1868:Rchy1
|
UTSW |
5 |
92,099,762 (GRCm39) |
missense |
probably damaging |
0.99 |
R4350:Rchy1
|
UTSW |
5 |
92,105,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R4953:Rchy1
|
UTSW |
5 |
92,110,487 (GRCm39) |
critical splice donor site |
probably null |
|
R6223:Rchy1
|
UTSW |
5 |
92,105,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R6345:Rchy1
|
UTSW |
5 |
92,105,801 (GRCm39) |
missense |
probably benign |
0.08 |
R8311:Rchy1
|
UTSW |
5 |
92,099,762 (GRCm39) |
missense |
probably damaging |
0.99 |
R8711:Rchy1
|
UTSW |
5 |
92,105,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R9225:Rchy1
|
UTSW |
5 |
92,105,396 (GRCm39) |
nonsense |
probably null |
|
R9267:Rchy1
|
UTSW |
5 |
92,105,831 (GRCm39) |
missense |
probably benign |
0.04 |
R9269:Rchy1
|
UTSW |
5 |
92,105,831 (GRCm39) |
missense |
probably benign |
0.04 |
R9291:Rchy1
|
UTSW |
5 |
92,099,765 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTCCTCAGAGAATTAAGTCTCATTTC -3'
(R):5'- CTTCTGTTAGGCTGAGAACGAG -3'
Sequencing Primer
(F):5'- CCATACGGCCTTACATGT -3'
(R):5'- ATCTGTGAGCTGCTAGGA -3'
|
Posted On |
2018-06-06 |