Mutagenetix > Incidental Mutation

Incidental Mutation 'R1295:Rnf19a'

158090

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

039361-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.595) question?

Stock #

R1295 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36240080-36283293 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 36244247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 604 (Y604*)

Ref Sequence

ENSEMBL: ENSMUSP00000022890 (fasta)

Gene Model

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

AlphaFold

P50636

Predicted Effect

probably null
Transcript: ENSMUST00000022890
AA Change: Y604*

SMART Domains

Protein: ENSMUSP00000022890
Gene: ENSMUSG00000022280
AA Change: Y604*

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: ENSMUST00000185150

Predicted Effect

probably benign
Transcript: ENSMUST00000228358

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.1%
20x: 82.0%

Validation Efficiency

98% (81/83)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	A	G	9: 121,737,783 (GRCm39)	S53G	possibly damaging	Het
Adgrb1	T	A	15: 74,421,888 (GRCm39)	L886Q	probably damaging	Het
Adprhl1	G	A	8: 13,298,624 (GRCm39)	T102M	probably damaging	Het
Akap6	A	C	12: 52,933,812 (GRCm39)	K435Q	probably damaging	Het
Aldh7a1	T	C	18: 56,680,022 (GRCm39)		probably null	Het
Amfr	T	C	8: 94,701,432 (GRCm39)	R507G	probably benign	Het
Ap1m1	T	A	8: 73,005,719 (GRCm39)		probably null	Het
Arhgap29	A	G	3: 121,786,044 (GRCm39)	H275R	probably benign	Het
Arhgef17	C	A	7: 100,530,476 (GRCm39)	E428*	probably null	Het
Atm	A	T	9: 53,367,830 (GRCm39)	V2431E	probably damaging	Het
Atn1	G	T	6: 124,724,750 (GRCm39)	P161Q	unknown	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Ccar1	C	A	10: 62,619,661 (GRCm39)		probably null	Het
Cdk18	T	C	1: 132,047,698 (GRCm39)		probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Col5a3	A	G	9: 20,719,714 (GRCm39)	F215S	unknown	Het
Decr1	T	C	4: 15,919,207 (GRCm39)	N312S	possibly damaging	Het
Diaph3	A	T	14: 87,244,835 (GRCm39)	W178R	probably damaging	Het
Dync2h1	A	G	9: 7,075,752 (GRCm39)		probably benign	Het
Ehd3	C	A	17: 74,135,181 (GRCm39)	D352E	probably damaging	Het
Enpp6	T	G	8: 47,518,535 (GRCm39)	I221S	probably benign	Het
Fam186a	T	C	15: 99,837,670 (GRCm39)		probably benign	Het
Gm5435	G	T	12: 82,542,558 (GRCm39)		noncoding transcript	Het
Gpr22	A	C	12: 31,759,513 (GRCm39)	I203S	probably benign	Het
Gpr61	A	G	3: 108,057,797 (GRCm39)	V288A	possibly damaging	Het
Grik3	G	A	4: 125,598,357 (GRCm39)		probably benign	Het
Gstcd	T	C	3: 132,711,389 (GRCm39)	N431D	probably damaging	Het
H1f5	T	C	13: 21,964,169 (GRCm39)	S186G	probably benign	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Ift140	G	T	17: 25,307,907 (GRCm39)		probably null	Het
Ikbke	A	G	1: 131,197,963 (GRCm39)	V381A	probably benign	Het
Ing1	T	A	8: 11,611,502 (GRCm39)	I38N	probably damaging	Het
Ing1	A	C	8: 11,611,501 (GRCm39)	I38L	probably benign	Het
Itga4	A	G	2: 79,153,033 (GRCm39)	M907V	possibly damaging	Het
Kcnk12	C	T	17: 88,053,801 (GRCm39)	G287D	probably damaging	Het
Kmt2e	A	C	5: 23,707,402 (GRCm39)	H1655P	probably damaging	Het
Mbtd1	A	G	11: 93,801,185 (GRCm39)	Y122C	probably damaging	Het
Mif-ps9	T	A	19: 56,743,766 (GRCm39)		noncoding transcript	Het
Mslnl	T	C	17: 25,962,214 (GRCm39)	L204P	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Nav3	T	A	10: 109,527,963 (GRCm39)	D2240V	probably damaging	Het
Ndufaf3	T	C	9: 108,443,892 (GRCm39)	T9A	probably damaging	Het
Numb	C	A	12: 83,842,935 (GRCm39)		probably benign	Het
Prodh2	T	C	7: 30,193,514 (GRCm39)	V79A	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rmnd5a	G	A	6: 71,375,439 (GRCm39)	L80F	probably benign	Het
Ros1	T	A	10: 51,964,028 (GRCm39)	E1744V	possibly damaging	Het
Rpusd2	T	C	2: 118,867,408 (GRCm39)	F219L	probably benign	Het
Sall2	T	C	14: 52,551,182 (GRCm39)	N671S	probably damaging	Het
Sele	T	A	1: 163,878,379 (GRCm39)	S239R	probably damaging	Het
Serpina3b	T	C	12: 104,097,138 (GRCm39)	F140L	probably damaging	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sufu	G	A	19: 46,443,159 (GRCm39)		probably benign	Het
Tbx2	A	G	11: 85,725,592 (GRCm39)	E181G	probably damaging	Het
Thumpd2	A	G	17: 81,363,317 (GRCm39)	V50A	probably damaging	Het
Tlcd4	A	G	3: 121,000,940 (GRCm39)	V231A	probably benign	Het
Ttn	C	A	2: 76,573,589 (GRCm39)	R17441L	probably damaging	Het
Usp34	A	G	11: 23,334,477 (GRCm39)	Y1157C	probably damaging	Het
Vmn1r9	T	C	6: 57,048,522 (GRCm39)	V199A	probably damaging	Het
Vmn2r6	A	G	3: 64,445,694 (GRCm39)	F677S	probably damaging	Het
Vmn2r84	C	T	10: 130,225,008 (GRCm39)	A501T	probably benign	Het
Wapl	C	T	14: 34,446,726 (GRCm39)	P605S	probably damaging	Het
Zfp598	A	G	17: 24,898,623 (GRCm39)	N474S	probably benign	Het
Zfyve26	A	G	12: 79,321,694 (GRCm39)	L975P	probably damaging	Het
Zp3r	C	T	1: 130,519,181 (GRCm39)	G255D	probably 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
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
R5647:Rnf19a	UTSW	15	36,266,109 (GRCm39)	start gained	probably benign
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

PCR Primer
(F):5'- CAGCCATCAGCATTTCCTACCTCAG -3'
(R):5'- TGGGAACCGAAGAGTTGCAGTGTC -3'

Sequencing Primer
(F):5'- AGGACATTTTTCATCATTCAGCCTG -3'
(R):5'- GAGTTGCAGTGTCTAACACTTC -3'

Posted On

2014-02-18