Mutagenetix > Incidental Mutation

Incidental Mutation 'R9291:Rchy1'

704270

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.590) question?

Stock #

R9291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92096763-92110927 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92099765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 191 (L191S)

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

possibly damaging
Transcript: ENSMUST00000031345
AA Change: L191S

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031345
Gene: ENSMUSG00000029397
AA Change: L191S

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

possibly damaging
Transcript: ENSMUST00000169948
AA Change: L151S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131270
Gene: ENSMUSG00000029397
AA Change: L151S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,464 (GRCm39)	N551S	probably benign	Het
Abcg5	C	A	17: 84,976,380 (GRCm39)	V486L	probably benign	Het
Acoxl	T	A	2: 127,814,493 (GRCm39)	I303N	probably damaging	Het
Atp6v1h	G	T	1: 5,220,284 (GRCm39)	W464L	probably null	Het
Cdcp2	A	G	4: 106,964,053 (GRCm39)	D301G	probably damaging	Het
Cenpv	T	C	11: 62,429,688 (GRCm39)	D115G	probably benign	Het
Cnfn	T	C	7: 25,067,476 (GRCm39)	D67G	possibly damaging	Het
Col27a1	A	C	4: 63,142,539 (GRCm39)	I76L	probably damaging	Het
Crb2	G	A	2: 37,682,213 (GRCm39)	V865I	probably damaging	Het
Ctf1	T	A	7: 127,316,204 (GRCm39)	L58Q	probably damaging	Het
Dennd6b	C	T	15: 89,071,590 (GRCm39)	V276M	possibly damaging	Het
Dis3l2	A	G	1: 86,901,215 (GRCm39)	T483A	possibly damaging	Het
Dlg5	T	C	14: 24,241,229 (GRCm39)	T223A	probably damaging	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dnah8	T	C	17: 30,944,099 (GRCm39)	I1772T	probably damaging	Het
Dscaml1	T	C	9: 45,359,251 (GRCm39)	I170T	probably damaging	Het
Ehd4	G	T	2: 119,921,755 (GRCm39)	D500E	probably damaging	Het
Elac2	T	C	11: 64,883,142 (GRCm39)	I388T	probably damaging	Het
Entpd6	G	A	2: 150,608,959 (GRCm39)	V348M	probably benign	Het
Epg5	T	A	18: 78,056,065 (GRCm39)	C1746*	probably null	Het
Exosc2	G	T	2: 31,560,871 (GRCm39)	M40I	probably benign	Het
Fam193a	T	C	5: 34,593,835 (GRCm39)	Y27H	probably damaging	Het
Gm8005	A	G	14: 42,258,885 (GRCm39)	F148L		Het
Hectd4	T	C	5: 121,487,028 (GRCm39)	V3341A	probably benign	Het
Hecw1	A	G	13: 14,491,522 (GRCm39)	V77A	probably benign	Het
Irf2bp1	T	A	7: 18,738,458 (GRCm39)	C33S	probably damaging	Het
Kank4	A	T	4: 98,666,688 (GRCm39)	H586Q	probably benign	Het
Kcnu1	A	G	8: 26,390,041 (GRCm39)	N619S	probably benign	Het
Kndc1	A	G	7: 139,475,140 (GRCm39)	E13G	possibly damaging	Het
Lrp2	A	T	2: 69,310,379 (GRCm39)	D2731E	probably damaging	Het
Lyst	A	G	13: 13,883,938 (GRCm39)	N2942S	probably benign	Het
Maml3	G	A	3: 51,764,328 (GRCm39)	T212M	probably benign	Het
Mill2	T	C	7: 18,575,416 (GRCm39)	V41A	probably benign	Het
Moxd2	C	A	6: 40,857,362 (GRCm39)	C466F	probably damaging	Het
Nefh	A	G	11: 4,890,871 (GRCm39)	S583P	probably benign	Het
Nlrp9b	T	A	7: 19,758,511 (GRCm39)	S583T	possibly damaging	Het
Nup214	T	G	2: 31,867,806 (GRCm39)	M91R	probably benign	Het
Or4c121	A	C	2: 89,024,138 (GRCm39)	M80R	possibly damaging	Het
Or6c206	T	C	10: 129,097,202 (GRCm39)	I124T	probably damaging	Het
Or8k53	A	T	2: 86,177,768 (GRCm39)	I114N	probably benign	Het
Otud4	A	G	8: 80,372,952 (GRCm39)	Y90C	probably damaging	Het
Papln	C	A	12: 83,825,284 (GRCm39)	T575N	probably benign	Het
Pkhd1l1	T	A	15: 44,433,372 (GRCm39)	N3417K	probably damaging	Het
Pop7	A	G	5: 137,499,911 (GRCm39)	*141Q	probably null	Het
Pramel26	A	T	4: 143,539,251 (GRCm39)	Y81N	probably benign	Het
Rims1	T	C	1: 22,467,746 (GRCm39)	D296G		Het
Sftpb	T	A	6: 72,286,880 (GRCm39)	C261*	probably null	Het
Sgcd	C	T	11: 46,870,166 (GRCm39)	C265Y	probably damaging	Het
Slc44a5	G	A	3: 153,962,218 (GRCm39)	V384M	possibly damaging	Het
Slx4ip	T	A	2: 136,888,716 (GRCm39)	N132K	probably benign	Het
Sspo	C	T	6: 48,473,330 (GRCm39)	T4861M	probably damaging	Het
Swt1	T	A	1: 151,286,694 (GRCm39)	E266V	probably damaging	Het
Tbc1d9	A	G	8: 83,987,750 (GRCm39)	D903G	probably damaging	Het
Tbx18	A	T	9: 87,611,535 (GRCm39)	M165K	probably damaging	Het
Tmem25	T	C	9: 44,706,799 (GRCm39)	N282S	probably damaging	Het
Tom1l2	T	C	11: 60,153,556 (GRCm39)	I140M	probably benign	Het
Trak2	A	G	1: 58,943,058 (GRCm39)	S783P	probably damaging	Het
Trpv4	G	A	5: 114,768,068 (GRCm39)	T534M	probably benign	Het
Ttc6	G	T	12: 57,622,730 (GRCm39)	R43M	probably damaging	Het
Vmn1r194	A	G	13: 22,428,875 (GRCm39)	Y164C	probably benign	Het
Vmn1r228	T	C	17: 20,997,023 (GRCm39)	Y165C	probably benign	Het
Vps13b	C	A	15: 35,847,059 (GRCm39)	T2614K	probably damaging	Het
Zdhhc14	T	C	17: 5,698,237 (GRCm39)	F102S	probably benign	Het
Zyg11b	A	G	4: 108,108,014 (GRCm39)	M464T	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
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

Predicted Primers

PCR Primer
(F):5'- TGGCACTAGGTCAAAGCAG -3'
(R):5'- ACCATTTCTTTGCATCAGTGTCCTAAG -3'

Sequencing Primer
(F):5'- CTACTTACGTCAACAGTCAC -3'
(R):5'- TTTAATCCCAGCACTCGGGAG -3'

Posted On

2022-03-25