Mutagenetix > Incidental Mutations

Incidental Mutation 'R4953:Rchy1'

381370

Institutional Source

Beutler Lab

Gene Symbol

Rchy1

Ensembl Gene

ENSMUSG00000029397

Gene Name

ring finger and CHY zinc finger domain containing 1

Synonyms

Zfp363, Pirh2, 6720407C15Rik, PRO1996

MMRRC Submission

042550-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.716) question?

Stock #

R4953 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

91948904-91963068 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 91962628 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031345] [ENSMUST00000031345] [ENSMUST00000169948] [ENSMUST00000169948]

AlphaFold

Q9CR50

Predicted Effect

probably null
Transcript: ENSMUST00000031345

SMART Domains

Protein: ENSMUSP00000031345
Gene: ENSMUSG00000029397

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

probably null
Transcript: ENSMUST00000031345

SMART Domains

Protein: ENSMUSP00000031345
Gene: ENSMUSG00000029397

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 null
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

probably null
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: 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

Meta Mutation Damage Score

0.9662

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,074,376	Y129H	probably damaging	Het
Adcy4	C	T	14: 55,779,029	D322N	probably damaging	Het
Adgre1	G	A	17: 57,441,321	G507E	probably damaging	Het
Agpat5	G	A	8: 18,868,955	V118I	probably benign	Het
Aif1	T	C	17: 35,171,098		probably null	Het
Akr1c6	A	T	13: 4,438,609		probably null	Het
Akt2	T	A	7: 27,638,172		probably null	Het
Ankrd35	T	A	3: 96,683,673	L425Q	possibly damaging	Het
Arhgap40	A	G	2: 158,543,406	T520A	possibly damaging	Het
Arhgef28	T	A	13: 97,929,554	D1597V	possibly damaging	Het
Aspm	A	G	1: 139,471,734	D1079G	probably benign	Het
Atp1a2	A	T	1: 172,291,442		probably benign	Het
Cage1	C	A	13: 38,023,430	E252D	possibly damaging	Het
Ccdc185	A	G	1: 182,749,017	S36P	possibly damaging	Het
Cd300a	T	C	11: 114,893,421	V85A	probably damaging	Het
Cd38	A	C	5: 43,907,545	D235A	possibly damaging	Het
Cdcp1	T	C	9: 123,180,023	K530R	probably benign	Het
Ceacam20	T	A	7: 19,971,726	L214Q	probably damaging	Het
Cntn4	G	A	6: 106,525,418	A379T	probably benign	Het
Col4a2	A	T	8: 11,429,505	E796V	probably benign	Het
Copa	A	G	1: 172,082,886		probably benign	Het
Cpa5	A	G	6: 30,631,364	T426A	possibly damaging	Het
Csmd1	A	G	8: 16,199,917	F1016L	probably damaging	Het
Cyb5r3	A	T	15: 83,158,621	L290*	probably null	Het
Ddx42	A	G	11: 106,242,940	T581A	probably damaging	Het
Deaf1	C	T	7: 141,322,468	G221S	probably damaging	Het
Dnah6	A	G	6: 73,188,383	S580P	probably benign	Het
Dock1	A	G	7: 135,152,288	E1598G	probably benign	Het
Drg2	T	C	11: 60,459,436		probably benign	Het
Eif3f	C	A	7: 108,934,640		probably benign	Het
Fam184a	G	T	10: 53,698,805	T236K	probably benign	Het
Gas7	C	T	11: 67,660,050	T126M	possibly damaging	Het
Gckr	T	G	5: 31,308,264	F408C	probably damaging	Het
Gm17472	A	G	6: 42,981,070	D91G	probably damaging	Het
Gm5117	G	A	8: 31,738,580		noncoding transcript	Het
Gsto1	T	A	19: 47,855,320	I47N	probably damaging	Het
Hck	C	T	2: 153,134,677	P244S	probably damaging	Het
Hif3a	T	C	7: 17,050,565	T250A	probably damaging	Het
Hmcn1	A	T	1: 150,876,360		probably benign	Het
Impa1	G	A	3: 10,315,280	S247F	probably damaging	Het
Ints14	G	C	9: 64,982,058	R397P	probably damaging	Het
Iqgap1	T	C	7: 80,723,776		probably null	Het
Krt2	T	C	15: 101,813,942	K436R	probably damaging	Het
Lama3	G	A	18: 12,448,305	C607Y	probably damaging	Het
Loxl4	G	T	19: 42,610,694		probably benign	Het
Lrrc8d	C	T	5: 105,813,368	T548M	probably damaging	Het
Man1b1	T	A	2: 25,338,184	D155E	probably damaging	Het
Mapk8ip2	C	T	15: 89,457,228	P214L	probably benign	Het
Mast1	G	A	8: 84,918,728	T696I	probably damaging	Het
Muc15	C	T	2: 110,731,272	P18S	probably damaging	Het
Mybl2	T	C	2: 163,080,796	S205P	probably damaging	Het
Mylk	T	C	16: 34,988,961	S1763P	probably damaging	Het
Nek10	T	A	14: 14,860,986	L513M	possibly damaging	Het
Nfib	A	G	4: 82,353,571	M252T	probably benign	Het
Nid2	C	A	14: 19,778,078	Y261*	probably null	Het
Nmd3	C	T	3: 69,731,637	R187C	possibly damaging	Het
Nomo1	G	T	7: 46,050,731		probably benign	Het
Npy4r	A	G	14: 34,146,480	F284L	probably damaging	Het
Nt5dc2	T	C	14: 31,138,921	V351A	possibly damaging	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr1480	T	A	19: 13,529,814	L91Q	probably null	Het
Olfr996	T	A	2: 85,579,725	L162*	probably null	Het
Pcdhb12	T	A	18: 37,436,156	D118E	probably damaging	Het
Pdcd11	C	T	19: 47,127,965	T1518I	probably benign	Het
Pde6a	T	A	18: 61,231,362	C163*	probably null	Het
Pign	A	T	1: 105,644,502	W314R	probably benign	Het
Pip5k1b	T	A	19: 24,390,435	H76L	probably damaging	Het
Plcz1	T	C	6: 140,028,551	N55S	possibly damaging	Het
Pou5f1	A	T	17: 35,510,541	H350L	possibly damaging	Het
Ric8b	A	G	10: 84,958,082	T270A	possibly damaging	Het
Rprml	A	G	11: 103,649,818	E13G	probably benign	Het
Secisbp2	T	A	13: 51,682,027	I719N	probably damaging	Het
Sergef	C	T	7: 46,633,835	R148H	probably benign	Het
Serpina6	T	A	12: 103,651,962		probably null	Het
Sirpb1b	C	A	3: 15,548,827	W65L	probably damaging	Het
Slc32a1	A	T	2: 158,614,057	I211F	possibly damaging	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Smarce1	A	G	11: 99,215,151	V226A	probably benign	Het
Spata31d1b	A	T	13: 59,716,283	E415V	probably damaging	Het
Speg	G	A	1: 75,423,864	R2556H	possibly damaging	Het
Suclg2	A	C	6: 95,566,436	V338G	probably damaging	Het
Tarbp1	T	C	8: 126,447,445	E874G	possibly damaging	Het
Tex14	G	T	11: 87,536,901		probably null	Het
Trim36	T	A	18: 46,196,178	D53V	possibly damaging	Het
Tsga10ip	T	A	19: 5,394,340	Y21F	possibly damaging	Het
Ttn	C	T	2: 76,789,945	V15849M	probably damaging	Het
Ube3b	T	C	5: 114,401,410	S421P	probably benign	Het
Unc5a	A	T	13: 54,999,870	M498L	probably benign	Het
Vipr2	A	G	12: 116,144,256	I420M	probably benign	Het
Vmn1r179	T	A	7: 23,929,090	H235Q	probably damaging	Het
Vps35	T	A	8: 85,281,846	I267F	probably damaging	Het
Wdr26	G	A	1: 181,197,651	R279W	probably damaging	Het
Xpo6	C	A	7: 126,169,271	R88L	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zfp105	T	A	9: 122,929,815	S184T	probably benign	Het
Zfp574	G	A	7: 25,080,963	R470H	probably damaging	Het
Zswim9	T	A	7: 13,269,558	H122L	probably damaging	Het

Other mutations in Rchy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02471:Rchy1	APN	5	91957546	nonsense	probably null
IGL02668:Rchy1	APN	5	91962718	start codon destroyed	probably null	0.43
IGL03251:Rchy1	APN	5	91962643	missense	probably benign	0.08
R0137:Rchy1	UTSW	5	91957599	missense	probably benign	0.01
R0959:Rchy1	UTSW	5	91957617	missense	probably damaging	0.99
R1462:Rchy1	UTSW	5	91957882	missense	probably damaging	1.00
R1462:Rchy1	UTSW	5	91957882	missense	probably damaging	1.00
R1531:Rchy1	UTSW	5	91955615	critical splice acceptor site	probably null
R1868:Rchy1	UTSW	5	91951903	missense	probably damaging	0.99
R4350:Rchy1	UTSW	5	91957954	missense	probably damaging	1.00
R6223:Rchy1	UTSW	5	91957967	missense	probably damaging	1.00
R6345:Rchy1	UTSW	5	91957942	missense	probably benign	0.08
R6546:Rchy1	UTSW	5	91957958	missense	probably damaging	1.00
R8311:Rchy1	UTSW	5	91951903	missense	probably damaging	0.99
R8711:Rchy1	UTSW	5	91957538	missense	probably damaging	1.00
R9225:Rchy1	UTSW	5	91957537	nonsense	probably null
R9267:Rchy1	UTSW	5	91957972	missense	probably benign	0.04
R9269:Rchy1	UTSW	5	91957972	missense	probably benign	0.04
R9291:Rchy1	UTSW	5	91951906	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- GGTGAATTTAAGCAAGGGCC -3'
(R):5'- CTCTGCTTCCTTAAGGCGTG -3'

Sequencing Primer
(F):5'- CAAGAACTTGGCTTGCAGC -3'
(R):5'- TCCTTAAGGCGTGGCTTCCAAG -3'

Posted On

2016-04-27