Mutagenetix > Incidental Mutation

Incidental Mutation 'R5297:Rnf19a'

405508

Institutional Source

Beutler Lab

Gene Symbol

Rnf19a

Ensembl Gene

ENSMUSG00000022280

Gene Name

ring finger protein 19A

Synonyms

XY body protein, Dorfin, Rnf19, XYbp

MMRRC Submission

042880-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.392) question?

Stock #

R5297 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36239933-36283147 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36247778 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 427 (S427P)

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: S427P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022890
Gene: ENSMUSG00000022280
AA Change: S427P

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: S427P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	G	T	1: 155,587,458 (GRCm38)	A135S	probably benign	Het
Agbl4	A	G	4: 111,566,698 (GRCm38)	K307R	possibly damaging	Het
AI481877	A	G	4: 59,047,543 (GRCm38)	W1359R	probably benign	Het
Akna	T	C	4: 63,381,846 (GRCm38)	E653G	possibly damaging	Het
Arhgap26	T	C	18: 39,121,888 (GRCm38)	Y273H	probably damaging	Het
Atg14	G	A	14: 47,568,199 (GRCm38)	R70C	probably damaging	Het
Atp1a1	C	T	3: 101,591,127 (GRCm38)	V250M	possibly damaging	Het
Cacna1c	T	G	6: 118,742,361 (GRCm38)	D215A	probably damaging	Het
Cadps	T	A	14: 12,822,345 (GRCm38)	N132Y	probably damaging	Het
Casp6	T	C	3: 129,910,555 (GRCm38)	F97L	possibly damaging	Het
Ckap2l	T	C	2: 129,285,370 (GRCm38)	N296S	possibly damaging	Het
Col6a4	T	C	9: 106,074,867 (GRCm38)	K611E	probably benign	Het
Copa	A	G	1: 172,113,108 (GRCm38)	H696R	probably damaging	Het
Cyp2a4	T	A	7: 26,312,204 (GRCm38)	N283K	probably benign	Het
Dcc	C	T	18: 71,378,738 (GRCm38)	V869I	probably benign	Het
Efemp1	G	T	11: 28,867,868 (GRCm38)	G116C	probably damaging	Het
F830045P16Rik	T	C	2: 129,460,553 (GRCm38)	E373G	probably benign	Het
Fbxo9	T	C	9: 78,086,279 (GRCm38)	T318A	probably benign	Het
Gipr	A	G	7: 19,157,544 (GRCm38)	W403R	probably damaging	Het
Gm10093	A	G	17: 78,492,758 (GRCm38)	S393G	probably benign	Het
Gm12794	T	A	4: 101,941,151 (GRCm38)	D106E	possibly damaging	Het
Gm4787	G	C	12: 81,377,830 (GRCm38)	T518S	probably benign	Het
Golgb1	G	A	16: 36,875,616 (GRCm38)		probably benign	Het
Herc3	T	C	6: 58,856,641 (GRCm38)	L171P	probably damaging	Het
Il5ra	A	G	6: 106,738,134 (GRCm38)	I221T	probably benign	Het
Itgb2	A	G	10: 77,564,667 (GRCm38)	I705V	probably damaging	Het
Map4k4	G	T	1: 39,962,217 (GRCm38)	V55F	probably damaging	Het
Mast1	A	G	8: 84,913,318 (GRCm38)		probably null	Het
Mitf	G	T	6: 97,994,430 (GRCm38)	G186V	probably benign	Het
Mtpn	C	T	6: 35,512,290 (GRCm38)	D100N	probably benign	Het
Nrcam	T	C	12: 44,544,784 (GRCm38)	F204L	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654 (GRCm38)		probably null	Het
Olfr1111	T	C	2: 87,150,449 (GRCm38)	I71V	probably benign	Het
Olfr1510	A	G	14: 52,410,218 (GRCm38)	L218P	probably damaging	Het
Olfr248	A	G	1: 174,391,200 (GRCm38)	M44V	probably benign	Het
Olfr381	A	T	11: 73,486,389 (GRCm38)	V145E	probably damaging	Het
Olfr446	T	C	6: 42,927,437 (GRCm38)	S69P	probably benign	Het
Olfr503	A	T	7: 108,545,404 (GRCm38)	N291I	probably damaging	Het
Pclo	A	T	5: 14,676,249 (GRCm38)		probably benign	Het
Pik3ca	T	A	3: 32,450,053 (GRCm38)	Y631N	probably damaging	Het
Ptk2b	T	C	14: 66,172,517 (GRCm38)	D462G	probably benign	Het
Scn3a	T	A	2: 65,469,034 (GRCm38)	Y1376F	possibly damaging	Het
Spem1	A	G	11: 69,820,927 (GRCm38)	Y304H	probably damaging	Het
Stk38l	C	A	6: 146,775,655 (GRCm38)	Y450*	probably null	Het
Stx19	A	G	16: 62,821,974 (GRCm38)	E51G	probably damaging	Het
Ttc41	C	G	10: 86,776,579 (GRCm38)	Q1239E	probably benign	Het
Tuba3a	C	T	6: 125,281,340 (GRCm38)	R229H	probably damaging	Het
Utp18	A	T	11: 93,876,089 (GRCm38)	V264D	probably damaging	Het
V1rd19	T	C	7: 24,003,289 (GRCm38)	V60A	probably damaging	Het
Virma	T	G	4: 11,494,819 (GRCm38)	V40G	probably damaging	Het
Vmn1r160	C	T	7: 22,871,290 (GRCm38)	Q23*	probably null	Het
Vmn2r13	T	C	5: 109,191,939 (GRCm38)	I57V	probably benign	Het
Vmn2r26	T	A	6: 124,061,873 (GRCm38)	F802L	probably damaging	Het
Vmn2r61	A	G	7: 42,260,222 (GRCm38)	D57G	probably benign	Het
Vps13c	A	G	9: 67,878,131 (GRCm38)	N260S	probably damaging	Het
Xirp1	C	A	9: 120,019,602 (GRCm38)	A72S	probably damaging	Het
Zfp212	T	C	6: 47,929,077 (GRCm38)	V190A	probably benign	Het
Zfp703	C	T	8: 26,979,205 (GRCm38)	P299L	probably damaging	Het

Other mutations in Rnf19a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Rnf19a	APN	15	36,265,802 (GRCm38)	missense	probably damaging	0.98
Cycle	UTSW	15	36,253,304 (GRCm38)	intron	probably benign
Tolkien	UTSW	15	36,265,306 (GRCm38)	missense	possibly damaging	0.80
Wagner	UTSW	15	36,244,196 (GRCm38)	missense	probably benign	0.05
R0245:Rnf19a	UTSW	15	36,253,032 (GRCm38)	missense	probably damaging	1.00
R0583:Rnf19a	UTSW	15	36,253,005 (GRCm38)	missense	probably damaging	1.00
R1295:Rnf19a	UTSW	15	36,244,101 (GRCm38)	nonsense	probably null
R1528:Rnf19a	UTSW	15	36,265,655 (GRCm38)	missense	possibly damaging	0.75
R1710:Rnf19a	UTSW	15	36,244,207 (GRCm38)	missense	probably damaging	1.00
R1835:Rnf19a	UTSW	15	36,265,925 (GRCm38)	missense	probably benign
R2005:Rnf19a	UTSW	15	36,241,770 (GRCm38)	missense	possibly damaging	0.52
R2110:Rnf19a	UTSW	15	36,254,519 (GRCm38)	missense	possibly damaging	0.79
R3118:Rnf19a	UTSW	15	36,241,899 (GRCm38)	nonsense	probably null
R3776:Rnf19a	UTSW	15	36,265,912 (GRCm38)	missense	probably benign	0.03
R4005:Rnf19a	UTSW	15	36,245,628 (GRCm38)	missense	probably damaging	0.98
R5184:Rnf19a	UTSW	15	36,244,196 (GRCm38)	missense	probably benign	0.05
R5386:Rnf19a	UTSW	15	36,242,039 (GRCm38)	missense	probably benign	0.01
R5647:Rnf19a	UTSW	15	36,265,963 (GRCm38)	start gained	probably benign
R6451:Rnf19a	UTSW	15	36,253,059 (GRCm38)	missense	possibly damaging	0.64
R7003:Rnf19a	UTSW	15	36,254,504 (GRCm38)	nonsense	probably null
R7304:Rnf19a	UTSW	15	36,254,452 (GRCm38)	missense	probably damaging	0.98
R7893:Rnf19a	UTSW	15	36,241,668 (GRCm38)	missense	possibly damaging	0.95
R8808:Rnf19a	UTSW	15	36,241,875 (GRCm38)	missense	probably benign	0.00
R8864:Rnf19a	UTSW	15	36,265,306 (GRCm38)	missense	possibly damaging	0.80
R8940:Rnf19a	UTSW	15	36,260,138 (GRCm38)	missense	probably damaging	1.00
R9063:Rnf19a	UTSW	15	36,265,469 (GRCm38)	nonsense	probably null
R9093:Rnf19a	UTSW	15	36,253,304 (GRCm38)	intron	probably benign
R9135:Rnf19a	UTSW	15	36,253,164 (GRCm38)	critical splice acceptor site	probably null
R9525:Rnf19a	UTSW	15	36,247,229 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATGTCTGAGGGAAGCGCTG -3'
(R):5'- GGATTGTGTGAGAAATTACTTCAGC -3'

Sequencing Primer
(F):5'- AGCCTTAAAACTAGGTTCTCCAG -3'
(R):5'- TCAGCTTTCTTATATGAGAAGAACTG -3'

Posted On

2016-07-22