Mutagenetix > Incidental Mutation

Incidental Mutation 'R0583:Rnf19a'

56530

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

038773-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.595) question?

Stock #

R0583 (G1)

Quality Score

122

Status

Not validated

Chromosome

Chromosomal Location

36240080-36283293 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36253151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 396 (R396L)

Ref Sequence

ENSEMBL: ENSMUSP00000022890 (fasta)

Gene Model

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

AlphaFold

P50636

Predicted Effect

probably damaging
Transcript: ENSMUST00000022890
AA Change: R396L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022890
Gene: ENSMUSG00000022280
AA Change: R396L

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 damaging
Transcript: ENSMUST00000228358
AA Change: R396L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.1%
20x: 93.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,164,926 (GRCm39)	S483P	probably benign	Het
5730480H06Rik	A	G	5: 48,537,470 (GRCm39)	H169R	probably damaging	Het
Actn1	T	A	12: 80,245,803 (GRCm39)	I127F	probably damaging	Het
Cadm3	T	G	1: 173,168,738 (GRCm39)	T277P	probably benign	Het
Cast	T	C	13: 74,861,797 (GRCm39)	T629A	probably damaging	Het
Cblc	C	A	7: 19,526,486 (GRCm39)	C201F	probably benign	Het
Ccdc154	T	A	17: 25,387,398 (GRCm39)	D375E	possibly damaging	Het
Cdk6	A	G	5: 3,523,183 (GRCm39)	D201G	probably damaging	Het
Cep95	T	C	11: 106,705,449 (GRCm39)	V478A	probably benign	Het
Ciita	T	C	16: 10,341,668 (GRCm39)		probably null	Het
Clec4e	A	G	6: 123,260,653 (GRCm39)	F135S	probably damaging	Het
Cntn6	A	G	6: 104,753,275 (GRCm39)	D337G	possibly damaging	Het
Crlf3	A	T	11: 79,950,107 (GRCm39)	H174Q	probably damaging	Het
Cyb5r1	T	A	1: 134,335,339 (GRCm39)	F93I	probably damaging	Het
Dop1b	T	C	16: 93,552,374 (GRCm39)	I271T	probably benign	Het
Duxf1	G	A	10: 58,059,210 (GRCm39)	L515F	probably damaging	Het
Fcho1	T	C	8: 72,168,369 (GRCm39)	Y218C	probably damaging	Het
Fhad1	C	T	4: 141,631,301 (GRCm39)	M1297I	probably benign	Het
Igdcc4	T	C	9: 65,029,095 (GRCm39)	V244A	possibly damaging	Het
Ikzf5	A	G	7: 130,993,514 (GRCm39)		probably null	Het
Ilvbl	T	A	10: 78,419,101 (GRCm39)	V450E	probably damaging	Het
Kcns3	T	G	12: 11,141,479 (GRCm39)	N407H	probably damaging	Het
Klhl11	T	C	11: 100,355,150 (GRCm39)	K224E	possibly damaging	Het
Klra17	T	A	6: 129,845,656 (GRCm39)	D186V	probably damaging	Het
Lrrc37a	T	C	11: 103,389,263 (GRCm39)	D2054G	probably benign	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Mrgbp	A	G	2: 180,226,239 (GRCm39)	N104S	probably benign	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Muc5ac	C	A	7: 141,361,345 (GRCm39)	T1552N	probably damaging	Het
Muc5b	T	A	7: 141,410,435 (GRCm39)	Y1269*	probably null	Het
Myef2	T	C	2: 124,939,901 (GRCm39)		probably null	Het
Myg1	C	T	15: 102,246,225 (GRCm39)	Q367*	probably null	Het
Nalcn	T	C	14: 123,531,755 (GRCm39)	N1365S	possibly damaging	Het
Nfu1	T	C	6: 86,986,934 (GRCm39)	C18R	probably benign	Het
Nkx2-6	A	T	14: 69,412,228 (GRCm39)	Q132L	probably damaging	Het
Or10a3b	C	T	7: 108,444,621 (GRCm39)	A199T	possibly damaging	Het
Or8k38	T	A	2: 86,488,704 (GRCm39)	I33F	probably benign	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Prh1	A	T	6: 132,548,796 (GRCm39)	Q101L	unknown	Het
Ribc2	A	T	15: 85,017,115 (GRCm39)		probably null	Het
Sdad1	A	G	5: 92,452,923 (GRCm39)	I105T	probably damaging	Het
Sec24b	G	T	3: 129,834,960 (GRCm39)	Y79*	probably null	Het
Tatdn2	A	G	6: 113,679,486 (GRCm39)	E277G	possibly damaging	Het
Tex10	A	C	4: 48,451,952 (GRCm39)	F725V	probably damaging	Het
Themis3	T	C	17: 66,866,748 (GRCm39)	D164G	probably benign	Het
Ubxn7	T	C	16: 32,194,732 (GRCm39)	W220R	probably damaging	Het
Usp33	C	A	3: 152,073,891 (GRCm39)	R246S	probably damaging	Het
Vmn2r102	T	A	17: 19,897,043 (GRCm39)	V130E	probably benign	Het
Vmn2r112	C	T	17: 22,837,930 (GRCm39)	P797L	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Yme1l1	T	C	2: 23,076,262 (GRCm39)	V340A	probably damaging	Het
Zfta	A	G	19: 7,397,639 (GRCm39)	D62G	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
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
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'- ACATGCATATTAGCTTGCAAAACACTCG -3'
(R):5'- GGGTAATGAAGAGGCAGTCCTTTCTG -3'

Sequencing Primer
(F):5'- tgggaggcagaggcagg -3'
(R):5'- ATTTGTCCTGCTACTTCCTAAAAG -3'

Posted On

2013-07-11