Mutagenetix > Incidental Mutation

Incidental Mutation 'R6345:Rchy1'

514097

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

044499-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.629) question?

Stock #

R6345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92096763-92110927 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92105801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 49 (D49G)

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: D49G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000031345
Gene: ENSMUSG00000029397
AA Change: D49G

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: ENSMUST00000193925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200905

Meta Mutation Damage Score

0.0951

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,913 (GRCm39)	I121T	probably benign	Het
4921524L21Rik	T	A	18: 6,626,399 (GRCm39)	M137K	possibly damaging	Het
Angpt4	C	A	2: 151,771,354 (GRCm39)	N223K	probably benign	Het
Ankrd6	T	C	4: 32,810,266 (GRCm39)	R437G	probably damaging	Het
Atp9a	C	T	2: 168,518,093 (GRCm39)	S264N	probably damaging	Het
AY358078	A	C	14: 52,063,749 (GRCm39)	Y465S	probably damaging	Het
Bin3	G	A	14: 70,374,676 (GRCm39)	R235Q	probably benign	Het
Bsn	G	A	9: 107,984,554 (GRCm39)	P3167S	unknown	Het
Camk2g	G	A	14: 20,787,443 (GRCm39)	R274C	probably damaging	Het
Ccdc61	A	T	7: 18,643,914 (GRCm39)		probably null	Het
Ccnjl	A	T	11: 43,476,165 (GRCm39)	T263S	probably benign	Het
Col17a1	G	T	19: 47,641,818 (GRCm39)	P944T	possibly damaging	Het
Cyp2c39	A	T	19: 39,501,615 (GRCm39)		probably null	Het
Cyp2c39	G	T	19: 39,501,616 (GRCm39)		probably null	Het
Cyp4a32	T	C	4: 115,459,560 (GRCm39)	V98A	possibly damaging	Het
Dnah9	A	G	11: 65,928,519 (GRCm39)	V2050A	probably damaging	Het
F5	A	G	1: 164,019,520 (GRCm39)	N665S	probably benign	Het
Fbxl6	A	T	15: 76,420,054 (GRCm39)	C520S	probably damaging	Het
Fscn2	C	A	11: 120,252,853 (GRCm39)	H107N	probably damaging	Het
Gfm2	C	T	13: 97,299,461 (GRCm39)	T367M	probably damaging	Het
Gle1	C	G	2: 29,826,127 (GRCm39)	P69A	probably benign	Het
Gpr156	A	T	16: 37,807,881 (GRCm39)	D176V	probably damaging	Het
Grip2	A	G	6: 91,742,369 (GRCm39)	S895P	possibly damaging	Het
Hfm1	C	T	5: 106,989,504 (GRCm39)	G1404D	probably benign	Het
Ifit1bl1	G	A	19: 34,571,570 (GRCm39)	R296*	probably null	Het
Ighv1-39	C	T	12: 114,878,479 (GRCm39)	V31M	possibly damaging	Het
Itgav	A	G	2: 83,632,380 (GRCm39)	E956G	probably damaging	Het
Katnip	C	A	7: 125,352,159 (GRCm39)	D26E	probably damaging	Het
Lsm8	A	G	6: 18,853,644 (GRCm39)	D86G	probably damaging	Het
Mdh1b	T	G	1: 63,754,398 (GRCm39)	H390P	possibly damaging	Het
Mtrf1l	A	T	10: 5,767,468 (GRCm39)	I216N	possibly damaging	Het
Muc16	G	A	9: 18,566,222 (GRCm39)	T2099I	unknown	Het
Myh7	T	C	14: 55,221,149 (GRCm39)	R925G	probably damaging	Het
Myo1h	T	A	5: 114,489,769 (GRCm39)	I658N	probably damaging	Het
Myo5a	A	T	9: 75,097,195 (GRCm39)	D81V	possibly damaging	Het
Nell1	G	A	7: 49,625,171 (GRCm39)	C12Y	possibly damaging	Het
Obscn	T	C	11: 58,944,522 (GRCm39)	Y4724C	probably damaging	Het
Or8k53	A	G	2: 86,177,892 (GRCm39)	Y73H	probably damaging	Het
Pah	G	A	10: 87,412,049 (GRCm39)	D315N	probably damaging	Het
Per2	A	G	1: 91,376,444 (GRCm39)	V143A	probably damaging	Het
Plcxd1	T	C	5: 110,248,165 (GRCm39)	V38A	probably benign	Het
Pld1	A	G	3: 28,184,896 (GRCm39)		probably benign	Het
Plekhh2	A	G	17: 84,883,215 (GRCm39)	N761S	probably benign	Het
Polh	T	C	17: 46,493,664 (GRCm39)	I318V	probably benign	Het
Prex1	T	C	2: 166,414,880 (GRCm39)	Q1323R	probably null	Het
Rb1cc1	T	A	1: 6,333,481 (GRCm39)	S1440T	probably benign	Het
Rbm19	G	T	5: 120,265,105 (GRCm39)	W382L	possibly damaging	Het
Ric1	A	G	19: 29,581,485 (GRCm39)	D1402G	probably benign	Het
S1pr3	G	T	13: 51,573,067 (GRCm39)	A83S	probably damaging	Het
S1pr3	C	A	13: 51,573,068 (GRCm39)	A83D	probably damaging	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Serpinb9c	T	C	13: 33,333,978 (GRCm39)	R355G	probably damaging	Het
Slx4	G	C	16: 3,808,714 (GRCm39)	Q409E	probably benign	Het
Sntg1	A	C	1: 8,653,508 (GRCm39)	L243R	possibly damaging	Het
Specc1l	G	T	10: 75,084,322 (GRCm39)	D682Y	probably damaging	Het
Spen	C	T	4: 141,198,944 (GRCm39)	V3228I	possibly damaging	Het
Strip1	T	C	3: 107,535,516 (GRCm39)	E69G	probably damaging	Het
Tasp1	C	A	2: 139,793,457 (GRCm39)	V240L	probably damaging	Het
Tdrd9	T	A	12: 112,001,042 (GRCm39)	F787L	probably damaging	Het
Vmn1r228	A	G	17: 20,997,144 (GRCm39)	S125P	probably damaging	Het
Wdhd1	A	G	14: 47,489,379 (GRCm39)	M718T	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AAGTCTGCTGGGCCTGAAAAG -3'
(R):5'- ATGTACCAAGAATGAACGCTGC -3'

Sequencing Primer
(F):5'- CTGGGCCTGAAAAGGACAC -3'
(R):5'- GAATGAACGCTGCCACGC -3'

Posted On

2018-04-27