Mutagenetix > Incidental Mutation

Incidental Mutation 'R5647:Rnf19a'

441241

Institutional Source

Beutler Lab

Gene Symbol

Rnf19a

Ensembl Gene

ENSMUSG00000022280

Gene Name

ring finger protein 19A

Synonyms

XY body protein, Rnf19, Dorfin, XYbp

MMRRC Submission

043295-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.595) question?

Stock #

R5647 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36240080-36283293 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 36266109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022890] [ENSMUST00000228358]

AlphaFold

P50636

Predicted Effect

probably benign
Transcript: ENSMUST00000022890

SMART Domains

Protein: ENSMUSP00000022890
Gene: ENSMUSG00000022280

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC
low complexity region	72	82	N/A	INTRINSIC
RING	132	179	5.56e-3	SMART
IBR	199	264	1.5e-24	SMART
IBR	283	347	1.87e-2	SMART
transmembrane domain	373	395	N/A	INTRINSIC
transmembrane domain	416	438	N/A	INTRINSIC
low complexity region	502	520	N/A	INTRINSIC
low complexity region	664	682	N/A	INTRINSIC
low complexity region	723	734	N/A	INTRINSIC
low complexity region	775	787	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227735

Predicted Effect

probably benign
Transcript: ENSMUST00000228358

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

95% (55/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010L04Rik	T	C	7: 82,505,606 (GRCm39)		noncoding transcript	Het
9330159F19Rik	A	T	10: 29,101,250 (GRCm39)	D541V	probably damaging	Het
Abcc5	T	C	16: 20,218,597 (GRCm39)	I262V	probably damaging	Het
Acvr1c	T	A	2: 58,185,976 (GRCm39)	D169V	probably damaging	Het
Aldh16a1	A	G	7: 44,803,889 (GRCm39)	V6A	probably benign	Het
Brd10	A	G	19: 29,731,210 (GRCm39)	S601P	possibly damaging	Het
Cd36	A	C	5: 18,019,763 (GRCm39)	S113A	probably damaging	Het
Cdt1	G	T	8: 123,296,947 (GRCm39)	R247L	possibly damaging	Het
Ces4a	G	A	8: 105,872,712 (GRCm39)	V322M	probably benign	Het
Cngb3	A	T	4: 19,364,266 (GRCm39)	T157S	possibly damaging	Het
Cpped1	T	C	16: 11,646,010 (GRCm39)		probably benign	Het
Ctr9	G	T	7: 110,654,751 (GRCm39)	R1094L	unknown	Het
Cyld	A	T	8: 89,461,554 (GRCm39)	I664L	probably benign	Het
Dvl2	C	T	11: 69,900,275 (GRCm39)	P690S	possibly damaging	Het
Fbxo7	A	C	10: 85,864,974 (GRCm39)	E94D	probably damaging	Het
Fstl5	A	C	3: 76,496,399 (GRCm39)	K387N	probably damaging	Het
Gm9845	A	C	3: 39,412,520 (GRCm39)		noncoding transcript	Het
Hk1	T	C	10: 62,111,523 (GRCm39)	D746G	probably damaging	Het
Lmbr1	A	G	5: 29,468,391 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,350,258 (GRCm39)	A705T	probably null	Het
Lrrc37	T	C	11: 103,508,300 (GRCm39)		probably benign	Het
Mybpc3	A	G	2: 90,952,067 (GRCm39)		probably null	Het
Myo15b	T	A	11: 115,762,337 (GRCm39)	L1219Q	probably damaging	Het
Naa35	G	A	13: 59,770,680 (GRCm39)		probably benign	Het
Or4g16	G	T	2: 111,137,392 (GRCm39)	A281S	possibly damaging	Het
Or5b111	A	T	19: 13,291,553 (GRCm39)	I32N	probably damaging	Het
Or5b113	T	C	19: 13,342,541 (GRCm39)	V183A	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Pcnt	T	C	10: 76,221,675 (GRCm39)	T1984A	probably benign	Het
Plcg1	T	C	2: 160,593,588 (GRCm39)	L251P	probably benign	Het
Plin1	T	A	7: 79,371,320 (GRCm39)	D468V	probably benign	Het
Pmp2	A	G	3: 10,248,845 (GRCm39)	V12A	probably benign	Het
Rnf214	G	A	9: 45,779,344 (GRCm39)	Q469*	probably null	Het
Rrp1b	T	G	17: 32,274,985 (GRCm39)		probably benign	Het
Rtl1	C	T	12: 109,561,113 (GRCm39)	R242Q	unknown	Het
Sema3e	A	T	5: 14,275,567 (GRCm39)	E224V	probably damaging	Het
Sphkap	A	G	1: 83,385,720 (GRCm39)	S5P	probably damaging	Het
Stab1	A	C	14: 30,879,397 (GRCm39)	Y694*	probably null	Het
Stambpl1	T	C	19: 34,211,686 (GRCm39)	L249P	probably benign	Het
Thap4	A	T	1: 93,642,665 (GRCm39)	H515Q	probably damaging	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Uaca	A	G	9: 60,779,380 (GRCm39)	R1256G	probably benign	Het
Usp17lb	T	A	7: 104,489,881 (GRCm39)	N348Y	possibly damaging	Het
Vmn1r42	A	G	6: 89,822,314 (GRCm39)	I85T	probably benign	Het
Vps9d1	A	T	8: 123,975,598 (GRCm39)	L149Q	probably damaging	Het
Zdhhc17	A	T	10: 110,809,694 (GRCm39)	I153N	probably damaging	Het
Zfp207	G	A	11: 80,283,959 (GRCm39)	S293N	possibly damaging	Het
Zfp346	A	G	13: 55,270,170 (GRCm39)	D198G	probably damaging	Het
Zfp953	A	T	13: 67,491,536 (GRCm39)	C139S	possibly damaging	Het

Other mutations in Rnf19a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Rnf19a	APN	15	36,265,948 (GRCm39)	missense	probably damaging	0.98
Cycle	UTSW	15	36,253,450 (GRCm39)	intron	probably benign
Tolkien	UTSW	15	36,265,452 (GRCm39)	missense	possibly damaging	0.80
Wagner	UTSW	15	36,244,342 (GRCm39)	missense	probably benign	0.05
R0245:Rnf19a	UTSW	15	36,253,178 (GRCm39)	missense	probably damaging	1.00
R0583:Rnf19a	UTSW	15	36,253,151 (GRCm39)	missense	probably damaging	1.00
R1295:Rnf19a	UTSW	15	36,244,247 (GRCm39)	nonsense	probably null
R1528:Rnf19a	UTSW	15	36,265,801 (GRCm39)	missense	possibly damaging	0.75
R1710:Rnf19a	UTSW	15	36,244,353 (GRCm39)	missense	probably damaging	1.00
R1835:Rnf19a	UTSW	15	36,266,071 (GRCm39)	missense	probably benign
R2005:Rnf19a	UTSW	15	36,241,916 (GRCm39)	missense	possibly damaging	0.52
R2110:Rnf19a	UTSW	15	36,254,665 (GRCm39)	missense	possibly damaging	0.79
R3118:Rnf19a	UTSW	15	36,242,045 (GRCm39)	nonsense	probably null
R3776:Rnf19a	UTSW	15	36,266,058 (GRCm39)	missense	probably benign	0.03
R4005:Rnf19a	UTSW	15	36,245,774 (GRCm39)	missense	probably damaging	0.98
R5184:Rnf19a	UTSW	15	36,244,342 (GRCm39)	missense	probably benign	0.05
R5297:Rnf19a	UTSW	15	36,247,924 (GRCm39)	missense	probably damaging	1.00
R5386:Rnf19a	UTSW	15	36,242,185 (GRCm39)	missense	probably benign	0.01
R6451:Rnf19a	UTSW	15	36,253,205 (GRCm39)	missense	possibly damaging	0.64
R7003:Rnf19a	UTSW	15	36,254,650 (GRCm39)	nonsense	probably null
R7304:Rnf19a	UTSW	15	36,254,598 (GRCm39)	missense	probably damaging	0.98
R7893:Rnf19a	UTSW	15	36,241,814 (GRCm39)	missense	possibly damaging	0.95
R8808:Rnf19a	UTSW	15	36,242,021 (GRCm39)	missense	probably benign	0.00
R8864:Rnf19a	UTSW	15	36,265,452 (GRCm39)	missense	possibly damaging	0.80
R8940:Rnf19a	UTSW	15	36,260,284 (GRCm39)	missense	probably damaging	1.00
R9063:Rnf19a	UTSW	15	36,265,615 (GRCm39)	nonsense	probably null
R9093:Rnf19a	UTSW	15	36,253,450 (GRCm39)	intron	probably benign
R9135:Rnf19a	UTSW	15	36,253,310 (GRCm39)	critical splice acceptor site	probably null
R9525:Rnf19a	UTSW	15	36,247,375 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2016-11-08