Mutagenetix > Incidental Mutation

Incidental Mutation 'R2005:Rnf19a'

225432

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

040014-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R2005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36240080-36283293 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36241916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 708 (F708I)

Ref Sequence

ENSEMBL: ENSMUSP00000022890 (fasta)

Gene Model

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

AlphaFold

P50636

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022890
AA Change: F708I

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022890
Gene: ENSMUSG00000022280
AA Change: F708I

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,841,562 (GRCm39)	A961V	probably benign	Het
Adcy10	A	G	1: 165,352,591 (GRCm39)	Y475C	probably benign	Het
Adgrb3	T	C	1: 25,150,799 (GRCm39)	M1145V	probably benign	Het
Akr1c21	A	G	13: 4,624,214 (GRCm39)	T23A	probably damaging	Het
Ankrd33b	A	T	15: 31,297,814 (GRCm39)	S314R	probably damaging	Het
Apc	T	C	18: 34,443,962 (GRCm39)		probably null	Het
Atg9a	T	A	1: 75,162,635 (GRCm39)	Q460L	probably benign	Het
Birc2	C	T	9: 7,860,342 (GRCm39)	C292Y	probably damaging	Het
Capn5	T	C	7: 97,778,570 (GRCm39)	I350V	probably benign	Het
Cc2d2a	G	A	5: 43,883,715 (GRCm39)		probably null	Het
Cdh22	T	A	2: 165,022,843 (GRCm39)	E76V	probably damaging	Het
Cdh8	T	C	8: 99,760,103 (GRCm39)		probably null	Het
Cdkn1b	ATTCTTCTTC	ATTCTTCTTCTTC	6: 134,898,919 (GRCm39)		probably benign	Het
Cfap54	T	A	10: 92,720,630 (GRCm39)	D2608V	unknown	Het
Crebrf	T	C	17: 26,961,857 (GRCm39)	V318A	possibly damaging	Het
Cwf19l2	A	T	9: 3,430,720 (GRCm39)	N351Y	possibly damaging	Het
Cyp2c67	A	T	19: 39,631,789 (GRCm39)	M136K	probably damaging	Het
Ddx10	A	G	9: 53,151,775 (GRCm39)		probably null	Het
Ddx47	A	G	6: 134,995,084 (GRCm39)	N92S	probably benign	Het
Ddx50	T	A	10: 62,476,243 (GRCm39)	H306L	probably benign	Het
Dnajc27	A	G	12: 4,147,317 (GRCm39)	T167A	possibly damaging	Het
Dscam	T	G	16: 96,840,120 (GRCm39)	K162N	probably benign	Het
Eif4h	G	A	5: 134,656,531 (GRCm39)	T53I	probably benign	Het
Elmo2	T	C	2: 165,140,199 (GRCm39)	N332S	probably benign	Het
Ergic3	A	G	2: 155,853,028 (GRCm39)	N157S	possibly damaging	Het
F2rl1	G	T	13: 95,649,782 (GRCm39)	R367S	probably damaging	Het
Fbxo36	G	A	1: 84,877,790 (GRCm39)	A151T	probably benign	Het
Foxf2	G	T	13: 31,810,124 (GRCm39)	R21L	unknown	Het
Gmip	T	A	8: 70,266,693 (GRCm39)	H269Q	probably benign	Het
Gng4	T	A	13: 13,980,751 (GRCm39)	V32E	probably benign	Het
Grm3	T	C	5: 9,639,793 (GRCm39)	Y84C	possibly damaging	Het
Helz2	C	T	2: 180,873,122 (GRCm39)	R2396H	probably benign	Het
Icosl	A	T	10: 77,907,787 (GRCm39)	M116L	possibly damaging	Het
Itgb3bp	A	C	4: 99,702,295 (GRCm39)	N16K	probably benign	Het
Kcnt2	A	G	1: 140,480,756 (GRCm39)	M824V	probably damaging	Het
Mki67	T	A	7: 135,300,238 (GRCm39)	K1599*	probably null	Het
Mmp25	G	A	17: 23,859,216 (GRCm39)	R144W	probably damaging	Het
Mmrn1	A	T	6: 60,953,068 (GRCm39)	I450F	possibly damaging	Het
Mroh2b	A	T	15: 4,946,640 (GRCm39)	K480M	probably damaging	Het
Nbn	T	A	4: 15,979,351 (GRCm39)	D445E	probably benign	Het
Npbwr1	T	A	1: 5,986,570 (GRCm39)	S315C	probably damaging	Het
Or10ag56	T	A	2: 87,139,792 (GRCm39)	S240T	probably benign	Het
Or1e19	A	T	11: 73,316,065 (GRCm39)	V248E	probably damaging	Het
Or5d38	A	G	2: 87,954,891 (GRCm39)	L146P	probably damaging	Het
Or7g16	G	A	9: 18,726,801 (GRCm39)	S263L	probably benign	Het
Pard3b	A	T	1: 62,184,050 (GRCm39)	E183D	probably benign	Het
Pde10a	G	A	17: 9,147,923 (GRCm39)		probably null	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Prdm13	T	C	4: 21,685,695 (GRCm39)		probably benign	Het
Rc3h2	T	A	2: 37,279,765 (GRCm39)	K461*	probably null	Het
Reep2	C	T	18: 34,978,674 (GRCm39)	T117M	probably damaging	Het
Rhbdd1	A	G	1: 82,318,531 (GRCm39)	N138S	probably benign	Het
Robo2	G	A	16: 73,730,003 (GRCm39)	H1069Y	possibly damaging	Het
Rpl9	C	T	5: 65,546,878 (GRCm39)	V112I	probably benign	Het
Sec16a	A	C	2: 26,329,092 (GRCm39)	S974R	probably benign	Het
Sfrp5	A	G	19: 42,187,275 (GRCm39)	M265T	probably benign	Het
Skint7	T	C	4: 111,842,047 (GRCm39)	I305T	probably benign	Het
Slc6a7	T	C	18: 61,134,713 (GRCm39)	D454G	possibly damaging	Het
Slco6c1	A	G	1: 97,009,214 (GRCm39)	I407T	probably damaging	Het
Slfn8	A	T	11: 82,894,976 (GRCm39)	M610K	probably damaging	Het
Spidr	A	G	16: 15,865,913 (GRCm39)	S299P	probably damaging	Het
Sptbn4	C	T	7: 27,065,844 (GRCm39)	W2034*	probably null	Het
Stard9	T	A	2: 120,495,426 (GRCm39)	F100L	possibly damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stc1	T	C	14: 69,269,096 (GRCm39)		probably null	Het
Sun2	T	C	15: 79,610,825 (GRCm39)	E667G	possibly damaging	Het
Tacc2	T	C	7: 130,333,280 (GRCm39)	S511P	probably damaging	Het
Tasp1	T	G	2: 139,819,598 (GRCm39)	K202Q	probably damaging	Het
Tdrd6	A	G	17: 43,939,546 (GRCm39)	F501L	probably damaging	Het
Tgds	A	G	14: 118,368,068 (GRCm39)	V35A	possibly damaging	Het
Tubgcp6	G	A	15: 88,988,369 (GRCm39)	T860I	probably benign	Het
Twf1	C	T	15: 94,483,328 (GRCm39)		probably null	Het
Vangl1	A	G	3: 102,070,782 (GRCm39)	S385P	probably benign	Het
Vmn2r117	A	G	17: 23,696,618 (GRCm39)	I263T	probably damaging	Het
Washc5	A	G	15: 59,213,004 (GRCm39)	L892P	possibly damaging	Het
Wnk4	T	C	11: 101,154,716 (GRCm39)	C302R	probably damaging	Het
Zfp395	A	G	14: 65,626,334 (GRCm39)	E191G	possibly damaging	Het
Zkscan17	A	G	11: 59,383,042 (GRCm39)	L302P	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
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
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'- GTCGGTCGTTTTCTACCTCAGG -3'
(R):5'- TCCGACACAACAGTGGAAGC -3'

Sequencing Primer
(F):5'- CCTCAGGAAGGGTGTTCACAG -3'
(R):5'- TGGATGACAGTGGTGCTACCC -3'

Posted On

2014-08-25