Mutagenetix > Incidental Mutation

Incidental Mutation 'R1835:Rnf19a'

205218

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

039862-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.569) question?

Stock #

R1835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36239933-36283147 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36265925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 9 (I9V)

Ref Sequence

ENSEMBL: ENSMUSP00000154617 (fasta)

Gene Model

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

AlphaFold

P50636

Predicted Effect

probably benign
Transcript: ENSMUST00000022890
AA Change: I9V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022890
Gene: ENSMUSG00000022280
AA Change: I9V

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: ENSMUST00000227735

Predicted Effect

probably benign
Transcript: ENSMUST00000228358
AA Change: I9V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.0%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	T	11: 78,287,750	V1993F	probably damaging	Het
4933425L06Rik	C	A	13: 105,082,194	A12E	unknown	Het
Acss2	T	A	2: 155,558,630	Y530N	probably damaging	Het
Adam4	T	C	12: 81,419,559	I763V	probably benign	Het
Aipl1	T	G	11: 72,030,499	K190T	possibly damaging	Het
Alms1	T	A	6: 85,678,503	S3344T	possibly damaging	Het
Alpi	A	G	1: 87,099,414	V381A	possibly damaging	Het
Ankfn1	A	T	11: 89,447,618	S365R	probably benign	Het
Aox2	G	A	1: 58,308,991	A623T	probably benign	Het
Apc	T	A	18: 34,317,077	L2308Q	probably damaging	Het
Atp9b	C	T	18: 80,778,883	V501I	probably benign	Het
Baz2b	T	C	2: 59,901,819	E1994G	probably benign	Het
Cacna1a	T	C	8: 84,581,357		probably null	Het
Cacna1h	C	A	17: 25,392,076	V583L	probably benign	Het
Cd55	T	C	1: 130,447,609		probably benign	Het
Cep192	T	A	18: 67,804,424	S75T	possibly damaging	Het
Cfap54	T	A	10: 92,962,375	D1674V	probably benign	Het
Churc1	T	C	12: 76,773,297	F27L	possibly damaging	Het
Coro1c	A	G	5: 113,848,543	I280T	probably benign	Het
Creb1	C	T	1: 64,550,950	Q32*	probably null	Het
Cyp2b9	A	G	7: 26,200,783	T339A	probably benign	Het
Dctn3	T	C	4: 41,720,813	R51G	probably damaging	Het
Ddb1	T	C	19: 10,626,593	V888A	probably damaging	Het
Disp1	A	G	1: 183,089,000	Y619H	probably damaging	Het
Dnajc9	T	C	14: 20,388,334	D96G	possibly damaging	Het
Eepd1	A	G	9: 25,482,868	T143A	possibly damaging	Het
Eps8	T	A	6: 137,522,279	K204*	probably null	Het
Ercc5	T	A	1: 44,180,875	S1102R	probably benign	Het
Ergic2	T	A	6: 148,189,581	Y211F	possibly damaging	Het
Fam135b	G	T	15: 71,490,711	L274M	probably damaging	Het
Fat3	G	A	9: 15,998,088	T2206I	probably damaging	Het
Fat4	A	G	3: 38,983,571	I3791V	probably benign	Het
Gemin4	A	G	11: 76,213,296	M213T	possibly damaging	Het
Gnai3	T	C	3: 108,118,407	M119V	probably benign	Het
Heatr5b	A	T	17: 78,773,563	L1420Q	probably damaging	Het
Herc2	G	T	7: 56,206,765	G3918*	probably null	Het
Ints9	A	G	14: 65,032,256	Y465C	probably damaging	Het
Ist1	A	G	8: 109,678,883	V175A	probably damaging	Het
Kcnj12	T	C	11: 61,069,557	L227P	possibly damaging	Het
Kcnq5	T	C	1: 21,466,387	S416G	probably benign	Het
Kdm3a	T	A	6: 71,613,956	T295S	probably benign	Het
Kif1c	T	A	11: 70,708,971	M479K	probably damaging	Het
Kif20b	T	C	19: 34,956,038	L83P	probably damaging	Het
Kndc1	A	G	7: 139,927,711	E1194G	probably damaging	Het
Llgl1	A	G	11: 60,704,730	M81V	probably benign	Het
Map4k5	C	A	12: 69,824,662	M495I	probably damaging	Het
Mest	C	T	6: 30,742,791	R146C	probably benign	Het
Mettl24	T	A	10: 40,737,816		probably null	Het
Mical1	T	C	10: 41,483,535	S586P	probably benign	Het
Mrgpra3	G	T	7: 47,589,946	Y77*	probably null	Het
Mss51	A	T	14: 20,483,178	C408*	probably null	Het
Myh6	T	C	14: 54,957,401	T666A	probably benign	Het
Myo10	T	C	15: 25,805,587	C1685R	possibly damaging	Het
Naip5	A	T	13: 100,223,218	Y503*	probably null	Het
Neil1	A	C	9: 57,146,604	F144C	probably damaging	Het
Nipbl	T	A	15: 8,343,517	I1082F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,732	V7A	probably damaging	Het
Ntng2	G	A	2: 29,197,057	Q384*	probably null	Het
Ocrl	T	A	X: 47,962,116	I74N	probably damaging	Het
Olfr137	A	T	17: 38,305,312	S50T	probably benign	Het
Olfr1385	A	T	11: 49,494,670	I46F	probably damaging	Het
Olfr1408	A	G	1: 173,130,815	V134A	probably benign	Het
Olfr381	A	C	11: 73,486,374	V150G	probably benign	Het
Olfr535	A	G	7: 140,492,709	S24G	probably benign	Het
Olfr761	C	T	17: 37,952,385	G213E	possibly damaging	Het
Patj	A	G	4: 98,491,590	D151G	probably benign	Het
Plpbp	T	C	8: 27,049,231	V126A	probably damaging	Het
Pold2	A	G	11: 5,873,454	L325P	possibly damaging	Het
Ppp1r12c	A	C	7: 4,483,651	S480A	probably damaging	Het
Pum1	T	C	4: 130,701,048	S124P	possibly damaging	Het
Pwp2	C	G	10: 78,179,091	G353A	probably damaging	Het
Reln	C	A	5: 21,979,002	Q1666H	probably damaging	Het
Ryr2	T	C	13: 11,769,878	H1063R	probably benign	Het
Samd14	C	G	11: 95,023,600	D361E	probably damaging	Het
Samd15	A	T	12: 87,201,843	N365I	probably damaging	Het
Sec16b	A	G	1: 157,531,312	H105R	probably benign	Het
Sez6	T	C	11: 77,953,503	S51P	probably benign	Het
Sh3bp1	T	A	15: 78,905,150	L236Q	probably damaging	Het
Sspo	C	T	6: 48,457,340	T991I	probably damaging	Het
Suco	A	T	1: 161,859,500	L97*	probably null	Het
Tab1	C	A	15: 80,148,296	R35S	probably benign	Het
Tet3	C	A	6: 83,404,163	S341I	possibly damaging	Het
Tlr1	A	T	5: 64,925,700	D511E	probably benign	Het
Tmem132b	A	C	5: 125,785,899	D656A	probably damaging	Het
Tmtc4	T	A	14: 122,941,988		probably null	Het
Trmo	T	C	4: 46,380,158	T404A	probably damaging	Het
Trpm1	A	G	7: 64,230,268	K790E	probably damaging	Het
Ulk4	C	A	9: 121,168,184	R774M	probably null	Het
Ush2a	C	T	1: 188,451,818	L1440F	probably benign	Het
Usp16	A	G	16: 87,480,907	K682E	probably damaging	Het
Virma	T	C	4: 11,540,511	S1471P	probably benign	Het
Vmn1r177	A	T	7: 23,865,686	I255N	probably damaging	Het
Vmn2r61	A	T	7: 42,266,652	R230*	probably null	Het
Vps13c	T	A	9: 67,993,013	F3671L	probably benign	Het
Washc5	T	C	15: 59,359,340	N358S	possibly damaging	Het
Wdr72	A	G	9: 74,151,617	K331E	probably damaging	Het
Zfp986	A	T	4: 145,899,235	K155I	probably benign	Het

Other mutations in Rnf19a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Rnf19a	APN	15	36265802	missense	probably damaging	0.98
Cycle	UTSW	15	36253304	intron	probably benign
Tolkien	UTSW	15	36265306	missense	possibly damaging	0.80
Wagner	UTSW	15	36244196	missense	probably benign	0.05
R0245:Rnf19a	UTSW	15	36253032	missense	probably damaging	1.00
R0583:Rnf19a	UTSW	15	36253005	missense	probably damaging	1.00
R1295:Rnf19a	UTSW	15	36244101	nonsense	probably null
R1528:Rnf19a	UTSW	15	36265655	missense	possibly damaging	0.75
R1710:Rnf19a	UTSW	15	36244207	missense	probably damaging	1.00
R2005:Rnf19a	UTSW	15	36241770	missense	possibly damaging	0.52
R2110:Rnf19a	UTSW	15	36254519	missense	possibly damaging	0.79
R3118:Rnf19a	UTSW	15	36241899	nonsense	probably null
R3776:Rnf19a	UTSW	15	36265912	missense	probably benign	0.03
R4005:Rnf19a	UTSW	15	36245628	missense	probably damaging	0.98
R5184:Rnf19a	UTSW	15	36244196	missense	probably benign	0.05
R5297:Rnf19a	UTSW	15	36247778	missense	probably damaging	1.00
R5386:Rnf19a	UTSW	15	36242039	missense	probably benign	0.01
R5647:Rnf19a	UTSW	15	36265963	start gained	probably benign
R6451:Rnf19a	UTSW	15	36253059	missense	possibly damaging	0.64
R7003:Rnf19a	UTSW	15	36254504	nonsense	probably null
R7304:Rnf19a	UTSW	15	36254452	missense	probably damaging	0.98
R7893:Rnf19a	UTSW	15	36241668	missense	possibly damaging	0.95
R8808:Rnf19a	UTSW	15	36241875	missense	probably benign	0.00
R8864:Rnf19a	UTSW	15	36265306	missense	possibly damaging	0.80
R8940:Rnf19a	UTSW	15	36260138	missense	probably damaging	1.00
R9063:Rnf19a	UTSW	15	36265469	nonsense	probably null
R9093:Rnf19a	UTSW	15	36253304	intron	probably benign
R9135:Rnf19a	UTSW	15	36253164	critical splice acceptor site	probably null
R9525:Rnf19a	UTSW	15	36247229	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGTTCTTATCAGCACACATTTC -3'
(R):5'- TCACAGAGAACCTGCAAGAG -3'

Sequencing Primer
(F):5'- TTCCTCCGAAAGAGAGAGCCTATTG -3'
(R):5'- CAGAGAACCTGCAAGAGTATAAAAAC -3'

Posted On

2014-06-23