Mutagenetix > Incidental Mutation

Incidental Mutation 'R9063:Rnf19a'

689122

Institutional Source

Beutler Lab

Gene Symbol

Rnf19a

Ensembl Gene

ENSMUSG00000022280

Gene Name

ring finger protein 19A

Synonyms

XY body protein, Rnf19, Dorfin, XYbp

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R9063 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36240080-36283293 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 36265615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 161 (Q161*)

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: Q161*

SMART Domains

Protein: ENSMUSP00000022890
Gene: ENSMUSG00000022280
AA Change: Q161*

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

probably null
Transcript: ENSMUST00000228358
AA Change: Q161*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	G	7: 115,703,660 (GRCm39)	S178A	probably benign	Het
Add3	T	C	19: 53,222,302 (GRCm39)	L303P	probably damaging	Het
Agr2	T	A	12: 36,053,898 (GRCm39)	*176K	probably null	Het
Apobr	C	T	7: 126,185,920 (GRCm39)	T477I	probably benign	Het
Cdca7l	G	A	12: 117,838,536 (GRCm39)	V336M	probably damaging	Het
Cep63	T	G	9: 102,496,227 (GRCm39)	H18P	unknown	Het
Copa	A	G	1: 171,944,529 (GRCm39)	D838G	probably benign	Het
Cspg4	G	T	9: 56,795,687 (GRCm39)	V1141L	probably benign	Het
D930020B18Rik	A	G	10: 121,497,002 (GRCm39)	T146A	probably benign	Het
Dapk1	A	T	13: 60,866,264 (GRCm39)	I206L	probably benign	Het
Emsy	C	T	7: 98,295,684 (GRCm39)	D73N	probably damaging	Het
Esr2	A	T	12: 76,168,590 (GRCm39)	Y540N	probably benign	Het
Exoc7	C	A	11: 116,180,101 (GRCm39)	V668L	probably benign	Het
Fcgbp	C	T	7: 27,791,277 (GRCm39)	T846I	probably damaging	Het
Fhod3	A	G	18: 25,153,772 (GRCm39)	E418G	probably damaging	Het
Fryl	G	A	5: 73,238,346 (GRCm39)	R1467C	possibly damaging	Het
Gas2l3	A	G	10: 89,249,558 (GRCm39)	I520T	probably benign	Het
Gfod1	A	G	13: 43,354,280 (GRCm39)	C232R	probably benign	Het
Gpr61	T	C	3: 108,057,555 (GRCm39)	R369G	probably benign	Het
Hk1	T	C	10: 62,122,429 (GRCm39)	Y423C	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Jmy	T	C	13: 93,635,580 (GRCm39)	R79G	probably benign	Het
Kcnn4	T	A	7: 24,076,934 (GRCm39)	V161E	probably damaging	Het
Kif15	T	A	9: 122,833,706 (GRCm39)	I1040N	probably damaging	Het
Kif2b	A	G	11: 91,466,654 (GRCm39)	L543S	probably damaging	Het
Kpna2	A	G	11: 106,883,489 (GRCm39)	I81T	probably benign	Het
Krt12	A	G	11: 99,307,757 (GRCm39)	S444P	probably benign	Het
Lmnb2	C	T	10: 80,742,005 (GRCm39)	V29M	probably benign	Het
Lmod2	T	C	6: 24,603,364 (GRCm39)	V113A	probably benign	Het
Lrp1b	T	C	2: 41,231,838 (GRCm39)	T1211A		Het
Lrrc8d	T	C	5: 105,961,959 (GRCm39)	S790P	probably damaging	Het
Map3k4	A	G	17: 12,482,878 (GRCm39)	V613A	probably damaging	Het
Marveld2	T	C	13: 100,748,653 (GRCm39)	N142S	probably benign	Het
Mgll	G	A	6: 88,802,690 (GRCm39)	V282I	possibly damaging	Het
Mief2	G	A	11: 60,622,314 (GRCm39)	E295K	probably damaging	Het
Mmrn2	A	T	14: 34,120,567 (GRCm39)	H479L	probably benign	Het
Myh15	T	A	16: 48,913,118 (GRCm39)	N358K	probably benign	Het
Mzf1	T	G	7: 12,787,005 (GRCm39)	K101Q	probably damaging	Het
Ncbp3	T	A	11: 72,964,253 (GRCm39)	L401Q	probably damaging	Het
Nck2	T	C	1: 43,593,503 (GRCm39)	C237R	possibly damaging	Het
Nlrp9a	T	G	7: 26,273,291 (GRCm39)	N976K	possibly damaging	Het
Nol11	A	G	11: 107,064,240 (GRCm39)	V524A	probably benign	Het
Nol11	T	C	11: 107,069,857 (GRCm39)	Y331C	possibly damaging	Het
Nsmf	A	T	2: 24,952,622 (GRCm39)	H149L	probably benign	Het
Olfm3	T	C	3: 114,914,582 (GRCm39)	V231A	probably benign	Het
Or1l4b	A	T	2: 37,036,646 (GRCm39)	M141L	probably benign	Het
Or51a6	A	G	7: 102,604,446 (GRCm39)	S121P	probably benign	Het
Or55b4	T	C	7: 102,133,931 (GRCm39)	Y132C	probably damaging	Het
Pcdhgb5	T	A	18: 37,864,739 (GRCm39)	F178Y	probably damaging	Het
Plk2	T	A	13: 110,532,920 (GRCm39)	S160R	possibly damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppp1cc	A	G	5: 122,306,279 (GRCm39)	N33D	probably benign	Het
Ptpn23	T	C	9: 110,218,693 (GRCm39)	E499G	possibly damaging	Het
Pwp1	A	G	10: 85,720,431 (GRCm39)	H356R	probably benign	Het
Rbsn	G	T	6: 92,171,000 (GRCm39)	T307K	probably benign	Het
Scin	T	C	12: 40,134,336 (GRCm39)	D236G	possibly damaging	Het
Setd1a	G	A	7: 127,385,558 (GRCm39)	R755H	possibly damaging	Het
Sik3	C	T	9: 46,123,735 (GRCm39)	T1178I	probably benign	Het
Slc49a3	A	G	5: 108,590,103 (GRCm39)	L433P	probably damaging	Het
Tex26	C	T	5: 149,393,826 (GRCm39)	R272C	probably damaging	Het
Trim60	T	A	8: 65,453,465 (GRCm39)	K261N	possibly damaging	Het
Tspan9	A	G	6: 127,944,072 (GRCm39)	I76T	probably damaging	Het
Ttn	T	A	2: 76,588,833 (GRCm39)	Y21412F	probably damaging	Het
Ttn	A	T	2: 76,710,907 (GRCm39)	I8409N	unknown	Het
Unc80	T	C	1: 66,645,816 (GRCm39)		probably null	Het
Ush2a	A	T	1: 187,995,457 (GRCm39)	Q76L	probably benign	Het
Usp1	G	A	4: 98,819,389 (GRCm39)	V284I	probably benign	Het
Usp31	A	G	7: 121,306,466 (GRCm39)	V4A	probably benign	Het
Vmn2r88	G	A	14: 51,648,329 (GRCm39)		probably benign	Het
Zfp959	G	A	17: 56,204,221 (GRCm39)	R86K	probably benign	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
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
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'- TACAGTCAGGATCTGCAACAAG -3'
(R):5'- TCAAGGGAGCTCAATGGTGG -3'

Sequencing Primer
(F):5'- GCCACCGTCGAAGCATAAATTCTTC -3'
(R):5'- CTGAAATGTGTGCTGATAAGAACTCC -3'

Posted On

2021-11-19