Mutagenetix > Incidental Mutation

Incidental Mutation 'R1528:Rnf19a'

166400

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

039568-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.569) question?

Stock #

R1528 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36239933-36283147 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36265655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 99 (S99T)

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: S99T

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022890
Gene: ENSMUSG00000022280
AA Change: S99T

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: S99T

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 79,067,696	Q262L	possibly damaging	Het
4921501E09Rik	A	G	17: 33,067,241	S196P	probably damaging	Het
4932438A13Rik	C	T	3: 37,052,535	H5005Y	unknown	Het
Abcg4	T	C	9: 44,274,723	Y617C	probably damaging	Het
Amph	G	A	13: 19,142,028	V643M	probably damaging	Het
Ano1	T	G	7: 144,595,566	S853R	probably damaging	Het
Ap4e1	T	A	2: 127,011,823	S60R	possibly damaging	Het
Atp4b	C	A	8: 13,389,693	K176N	possibly damaging	Het
Atxn2	A	T	5: 121,802,108	D982V	probably damaging	Het
Atxn2	T	C	5: 121,813,530	F646S	probably damaging	Het
Bcl2l13	T	C	6: 120,870,794	C136R	possibly damaging	Het
Cacna1i	A	G	15: 80,391,774		probably null	Het
Ccdc122	T	A	14: 77,067,939	V11D	possibly damaging	Het
Cdnf	A	G	2: 3,521,041	D90G	probably damaging	Het
Cep104	T	G	4: 153,994,508	V323G	probably benign	Het
Chmp6	A	G	11: 119,916,715	D128G	probably benign	Het
Clec18a	A	T	8: 111,078,866	M201K	probably benign	Het
Col11a1	A	T	3: 114,216,995		probably benign	Het
Col6a4	A	T	9: 106,075,220	M493K	probably damaging	Het
Crygd	A	C	1: 65,063,057		probably null	Het
Dennd1c	T	C	17: 57,066,935	T543A	probably benign	Het
Erbb4	A	T	1: 68,078,582	C891*	probably null	Het
Ercc5	A	T	1: 44,178,241	K915*	probably null	Het
Ercc6	A	T	14: 32,519,022	N168Y	probably damaging	Het
Esrp2	G	T	8: 106,136,752	P6T	unknown	Het
Exoc1	A	G	5: 76,549,564	K396R	possibly damaging	Het
Fat3	T	A	9: 15,925,091	Y4039F	probably benign	Het
Fgf7	T	A	2: 126,035,818	M35K	probably damaging	Het
Fras1	G	A	5: 96,636,819	G887D	probably damaging	Het
Fuk	A	T	8: 110,883,241	L1047Q	probably damaging	Het
Gbp4	A	T	5: 105,121,792		probably null	Het
Homez	A	T	14: 54,857,705	M182K	probably benign	Het
Hrnr	G	A	3: 93,322,794	S113N	possibly damaging	Het
Ifit3b	T	G	19: 34,611,672	S83A	probably benign	Het
Ildr2	A	G	1: 166,270,495		probably null	Het
Klhdc1	A	T	12: 69,263,198	R291S	probably benign	Het
Krt77	T	A	15: 101,861,088	I413F	probably damaging	Het
Lipn	A	G	19: 34,068,670	I14M	probably damaging	Het
Macf1	T	G	4: 123,476,014	R86S	probably benign	Het
Mroh8	C	A	2: 157,230,055	G510V	probably damaging	Het
Mycbp2	A	T	14: 103,232,597	D1255E	possibly damaging	Het
Nckap5	C	T	1: 126,024,922	V1234I	possibly damaging	Het
Nlrp9c	T	C	7: 26,382,298	K668E	probably damaging	Het
Nod2	T	C	8: 88,664,589	M508T	possibly damaging	Het
Npffr1	A	G	10: 61,614,237	M97V	possibly damaging	Het
Nsd3	G	A	8: 25,698,767	V43M	probably damaging	Het
Nubp2	A	G	17: 24,884,414	V163A	probably damaging	Het
Oas1e	A	T	5: 120,787,989	F338Y	probably damaging	Het
Oat	C	A	7: 132,564,269	G196C	probably damaging	Het
Olfr1241	C	T	2: 89,482,553	G194D	probably damaging	Het
Olfr57	T	C	10: 79,035,564	L256P	probably damaging	Het
Olfr675	A	T	7: 105,024,764	L72Q	probably damaging	Het
P2ry13	T	C	3: 59,210,289	T23A	probably benign	Het
Pja2	C	A	17: 64,309,222	S226I	possibly damaging	Het
Pkhd1l1	T	C	15: 44,526,724	V1412A	probably damaging	Het
Plekhs1	T	C	19: 56,479,995	S332P	probably damaging	Het
Polr3e	T	A	7: 120,940,597	N522K	probably damaging	Het
Prdm10	A	G	9: 31,357,286	T844A	probably damaging	Het
Ripk1	C	T	13: 34,028,147	P480L	probably benign	Het
Rnf139	T	C	15: 58,899,215	V363A	probably damaging	Het
Rnf224	G	A	2: 25,236,098	T81I	probably benign	Het
Rpgrip1	T	C	14: 52,112,224	L23S	probably benign	Het
Setd5	T	A	6: 113,121,738	F758L	probably damaging	Het
Smlr1	C	A	10: 25,536,078	V4L	possibly damaging	Het
Snx1	T	C	9: 66,109,543	D34G	probably damaging	Het
Spaca5	A	T	X: 21,076,653	T92S	probably benign	Het
Speer4f2	A	G	5: 17,376,542	T161A		Het
Swi5	C	A	2: 32,280,704		probably null	Het
Syne2	T	A	12: 75,966,100	D2689E	probably benign	Het
Tcof1	T	A	18: 60,814,999	K1299*	probably null	Het
Tmprss11e	G	A	5: 86,724,210	T49I	probably damaging	Het
Tmx3	T	A	18: 90,537,086	V309D	possibly damaging	Het
Trim30b	C	G	7: 104,357,299	V117L	possibly damaging	Het
Tsen2	C	A	6: 115,560,028	H248Q	probably benign	Het
Ttn	T	C	2: 76,737,068	Y19500C	probably damaging	Het
Tubgcp2	A	G	7: 140,033,783		probably benign	Het
Vwf	A	C	6: 125,608,291	D712A	possibly damaging	Het
Wfdc2	A	G	2: 164,565,908	K166E	probably damaging	Het
Xrcc2	T	C	5: 25,692,294	D219G	probably benign	Het
Zc3h6	C	T	2: 129,017,069	P1007S	probably benign	Het
Zdhhc17	A	T	10: 110,948,189		probably null	Het
Zfp369	T	A	13: 65,292,165	I221N	probably damaging	Het
Zfp655	A	T	5: 145,244,601	N423I	probably damaging	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
R1710:Rnf19a	UTSW	15	36244207	missense	probably damaging	1.00
R1835:Rnf19a	UTSW	15	36265925	missense	probably benign
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'- CAAGCGAATGTCATGAGGATTAAACCG -3'
(R):5'- AAGGGCTGTGTATGAACATTGACTCTG -3'

Sequencing Primer
(F):5'- GGTATTGTCGTAAGCAATCCACAC -3'
(R):5'- GACTCTGACTCAATTCTGATGAGC -3'

Posted On

2014-04-13