Mutagenetix > Incidental Mutation

Incidental Mutation 'R1462:Rchy1'

158939

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

039516-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.590) question?

Stock #

R1462 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92096763-92110927 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92105741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 69 (Q69L)

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: Q69L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031345
Gene: ENSMUSG00000029397
AA Change: Q69L

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: ENSMUST00000193925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202883

Meta Mutation Damage Score

0.8817

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 92.6%
20x: 79.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,642,370 (GRCm39)	S104*	probably null	Het
Abca9	T	C	11: 110,051,342 (GRCm39)	D118G	probably benign	Het
Adamts16	A	G	13: 70,984,253 (GRCm39)	F137L	probably benign	Het
Adamts3	T	C	5: 90,009,208 (GRCm39)	I152V	probably benign	Het
Adcy4	T	A	14: 56,015,765 (GRCm39)	E441D	possibly damaging	Het
Adgra1	T	A	7: 139,455,745 (GRCm39)	Y458N	probably damaging	Het
Bhlhe22	C	G	3: 18,109,946 (GRCm39)	S332C	probably damaging	Het
Card19	T	A	13: 49,358,760 (GRCm39)	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,485,662 (GRCm39)	L11P	probably damaging	Het
Cdadc1	A	G	14: 59,813,307 (GRCm39)	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,719,288 (GRCm39)	Q542K	possibly damaging	Het
Cep170	T	C	1: 176,584,211 (GRCm39)	K723E	possibly damaging	Het
Cep70	A	G	9: 99,145,773 (GRCm39)	I147V	probably benign	Het
Cfap58	A	T	19: 47,950,869 (GRCm39)	H410L	probably damaging	Het
Chat	T	C	14: 32,142,735 (GRCm39)	K418R	probably damaging	Het
Cic	T	G	7: 24,971,032 (GRCm39)	D254E	probably damaging	Het
Ckap4	T	C	10: 84,363,431 (GRCm39)	E544G	probably damaging	Het
Crnkl1	C	T	2: 145,763,739 (GRCm39)	A500T	probably damaging	Het
Cyp2c38	T	C	19: 39,380,632 (GRCm39)	N418D	probably damaging	Het
Daam1	A	T	12: 71,990,916 (GRCm39)	I177L	unknown	Het
Ercc5	A	G	1: 44,219,784 (GRCm39)	T1019A	probably damaging	Het
F13b	T	A	1: 139,435,374 (GRCm39)	V173E	probably damaging	Het
Fam20a	A	C	11: 109,568,143 (GRCm39)	F316V	probably damaging	Het
Flrt2	T	C	12: 95,746,112 (GRCm39)	V150A	probably damaging	Het
Fnta	A	C	8: 26,489,599 (GRCm39)		probably null	Het
Ghsr	A	G	3: 27,426,025 (GRCm39)	D27G	probably benign	Het
Gtpbp1	A	G	15: 79,592,086 (GRCm39)	N96D	probably damaging	Het
H1f7	A	T	15: 98,154,454 (GRCm39)	W232R	unknown	Het
Ibtk	A	T	9: 85,606,198 (GRCm39)	I443N	probably damaging	Het
Ifi207	T	C	1: 173,552,513 (GRCm39)	H968R	probably damaging	Het
Ifit2	A	G	19: 34,550,586 (GRCm39)	D42G	probably null	Het
Il17rc	A	T	6: 113,455,950 (GRCm39)	D265V	probably damaging	Het
Itfg2	T	C	6: 128,401,691 (GRCm39)	D29G	probably damaging	Het
Itprid1	A	G	6: 55,952,649 (GRCm39)	H864R	probably damaging	Het
Lrrc1	A	G	9: 77,349,547 (GRCm39)	F295L	probably benign	Het
Mrps28	T	A	3: 8,965,184 (GRCm39)	H85L	possibly damaging	Het
Mtpn	T	A	6: 35,499,693 (GRCm39)	K37M	possibly damaging	Het
Mug1	C	T	6: 121,859,588 (GRCm39)	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084 (GRCm39)	H60R	possibly damaging	Het
Mybl2	T	C	2: 162,914,628 (GRCm39)	S249P	probably benign	Het
Naip6	A	G	13: 100,436,748 (GRCm39)	Y592H	possibly damaging	Het
Nrp1	A	G	8: 129,229,279 (GRCm39)	N919S	probably benign	Het
Nudt9	C	T	5: 104,212,904 (GRCm39)	Q326*	probably null	Het
Or5w13	A	T	2: 87,523,720 (GRCm39)	C169S	probably damaging	Het
Or6c76b	A	G	10: 129,693,100 (GRCm39)	T238A	probably damaging	Het
Or7g17	T	A	9: 18,768,407 (GRCm39)	M162K	probably benign	Het
Or9k7	T	A	10: 130,046,592 (GRCm39)	I136F	probably benign	Het
Pcsk4	T	C	10: 80,161,815 (GRCm39)	E142G	probably damaging	Het
Pde3a	C	A	6: 141,405,560 (GRCm39)	P471T	probably benign	Het
Pign	A	T	1: 105,512,727 (GRCm39)	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,181,672 (GRCm39)	M420K	probably damaging	Het
Prr14	T	A	7: 127,073,160 (GRCm39)		probably null	Het
Sec23ip	T	G	7: 128,367,862 (GRCm39)	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,473,925 (GRCm39)	S47P	probably damaging	Het
Speer4a3	T	A	5: 26,156,623 (GRCm39)	I119F	possibly damaging	Het
Stil	G	A	4: 114,881,161 (GRCm39)	M568I	probably benign	Het
Syt3	T	A	7: 44,045,434 (GRCm39)	V558E	probably damaging	Het
Szt2	A	G	4: 118,231,164 (GRCm39)	V2533A	unknown	Het
Tenm4	A	G	7: 96,353,360 (GRCm39)	Y384C	probably damaging	Het
Tfam	T	C	10: 71,071,380 (GRCm39)	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,714,304 (GRCm39)	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,409,566 (GRCm39)	Y15*	probably null	Het
Uhrf1	C	T	17: 56,625,035 (GRCm39)	A526V	probably damaging	Het
Vmn2r67	T	C	7: 84,805,046 (GRCm39)	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,817,660 (GRCm39)	I412M	possibly damaging	Het
Wdr17	A	T	8: 55,123,363 (GRCm39)	I479K	probably damaging	Het
Wt1	T	C	2: 104,997,176 (GRCm39)	V371A	probably damaging	Het
Zfp536	G	T	7: 37,178,735 (GRCm39)	S226Y	probably damaging	Het
Zfp827	T	C	8: 79,803,108 (GRCm39)	V560A	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
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

Predicted Primers

PCR Primer
(F):5'- CTACAGTCTTCACAAGTCTGCTGGG -3'
(R):5'- GCAATCTGTGAGCTGCTAGGACTTC -3'

Sequencing Primer
(F):5'- AAAAGGACACAGTAATTAAAAACTCG -3'
(R):5'- GAGCTGCTAGGACTTCCTCTATTTG -3'

Posted On

2014-03-14