Incidental Mutation 'IGL03251:Rchy1'
| ID |
414932 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rchy1
|
| Ensembl Gene |
ENSMUSG00000029397 |
| Gene Name |
ring finger and CHY zinc finger domain containing 1 |
| Synonyms |
6720407C15Rik, PRO1996, Pirh2, Zfp363 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.629)
|
| Stock # |
IGL03251
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92096763-92110927 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 92110502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 26
(A26D)
|
| 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 benign
Transcript: ENSMUST00000031345
AA Change: A26D
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000031345
Gene: ENSMUSG00000029397
AA Change: A26D
| 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: ENSMUST00000140670
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169948
AA Change: A26D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000131270
Gene: ENSMUSG00000029397
AA Change: A26D
| 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: ENSMUST00000191860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192939
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193925
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200905
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202883
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,631,661 (GRCm39) |
|
probably benign |
Het |
| Cdkl2 |
A |
G |
5: 92,181,585 (GRCm39) |
I132T |
probably damaging |
Het |
| Ckap4 |
A |
T |
10: 84,364,469 (GRCm39) |
I198N |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,737,898 (GRCm39) |
R600H |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,686,433 (GRCm39) |
I239T |
probably benign |
Het |
| Ei24 |
A |
G |
9: 36,691,405 (GRCm39) |
*359R |
probably null |
Het |
| Elk3 |
A |
T |
10: 93,090,683 (GRCm39) |
|
probably null |
Het |
| Eps8l2 |
T |
A |
7: 140,922,875 (GRCm39) |
M46K |
probably damaging |
Het |
| Frem2 |
G |
T |
3: 53,479,729 (GRCm39) |
T1988N |
probably benign |
Het |
| Gm5431 |
T |
C |
11: 48,785,548 (GRCm39) |
K276E |
probably benign |
Het |
| Gm8220 |
T |
A |
14: 44,525,729 (GRCm39) |
C133S |
possibly damaging |
Het |
| Hectd2 |
T |
C |
19: 36,562,926 (GRCm39) |
L168P |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,217,228 (GRCm39) |
D1372V |
probably damaging |
Het |
| Isl1 |
T |
C |
13: 116,441,985 (GRCm39) |
S83G |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,490,279 (GRCm39) |
I107T |
probably benign |
Het |
| Mlc1 |
A |
T |
15: 88,858,934 (GRCm39) |
V117D |
possibly damaging |
Het |
| Ndc1 |
A |
G |
4: 107,237,856 (GRCm39) |
E220G |
possibly damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,448,427 (GRCm39) |
M210K |
probably benign |
Het |
| Or2z8 |
A |
T |
8: 72,811,920 (GRCm39) |
Y132F |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,691,423 (GRCm39) |
E60G |
possibly damaging |
Het |
| Pld1 |
G |
A |
3: 28,142,814 (GRCm39) |
R674H |
probably benign |
Het |
| Ppp1r13l |
G |
A |
7: 19,102,794 (GRCm39) |
|
probably benign |
Het |
| Ppp2cb |
A |
T |
8: 34,100,679 (GRCm39) |
|
probably benign |
Het |
| Rrm1 |
T |
C |
7: 102,106,413 (GRCm39) |
F311L |
probably damaging |
Het |
| Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
| Slc24a4 |
T |
C |
12: 102,189,084 (GRCm39) |
L173P |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,640,826 (GRCm39) |
|
probably null |
Het |
| Tube1 |
T |
A |
10: 39,010,977 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
C |
T |
10: 88,653,188 (GRCm39) |
|
probably null |
Het |
| Vmn2r55 |
T |
C |
7: 12,405,120 (GRCm39) |
|
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 |
|
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 |
|
R6546:Rchy1
|
UTSW |
5 |
92,105,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation