Mutagenetix > Incidental Mutation

Incidental Mutation 'R4560:Rnf19b'

343030

Institutional Source

Beutler Lab

Gene Symbol

Rnf19b

Ensembl Gene

ENSMUSG00000028793

Gene Name

ring finger protein 19B

Synonyms

4930555L03Rik, Ibrdc3, 4930534K13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R4560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128951871-128978319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 128965616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 57 (C57F)

Ref Sequence

ENSEMBL: ENSMUSP00000119611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030584] [ENSMUST00000097874] [ENSMUST00000152565] [ENSMUST00000168461]

AlphaFold

A2A7Q9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030584
AA Change: C238F

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

SMART Domains

Protein: ENSMUSP00000030584
Gene: ENSMUSG00000028793
AA Change: C238F

Domain	Start	End	E-Value	Type
low complexity region	52	115	N/A	INTRINSIC
RING	116	163	4.84e-3	SMART
IBR	183	248	5.61e-24	SMART
IBR	251	330	6.35e-2	SMART
transmembrane domain	356	378	N/A	INTRINSIC
transmembrane domain	399	421	N/A	INTRINSIC
low complexity region	511	534	N/A	INTRINSIC
low complexity region	616	633	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097874
AA Change: C57F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095484
Gene: ENSMUSG00000028793
AA Change: C57F

Domain	Start	End	E-Value	Type
IBR	2	67	5.61e-24	SMART
IBR	70	149	6.35e-2	SMART
transmembrane domain	175	197	N/A	INTRINSIC
transmembrane domain	218	240	N/A	INTRINSIC
low complexity region	330	353	N/A	INTRINSIC
low complexity region	435	452	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000152565
AA Change: C57F

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

SMART Domains

Protein: ENSMUSP00000119611
Gene: ENSMUSG00000028793
AA Change: C57F

Domain	Start	End	E-Value	Type
IBR	2	67	5.61e-24	SMART
IBR	70	148	4.95e-2	SMART
transmembrane domain	174	196	N/A	INTRINSIC
transmembrane domain	217	239	N/A	INTRINSIC
low complexity region	329	352	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000168461
AA Change: C238F

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

SMART Domains

Protein: ENSMUSP00000131373
Gene: ENSMUSG00000028793
AA Change: C238F

Domain	Start	End	E-Value	Type
low complexity region	52	115	N/A	INTRINSIC
RING	116	163	4.84e-3	SMART
IBR	183	248	5.61e-24	SMART
IBR	251	329	4.95e-2	SMART
transmembrane domain	355	377	N/A	INTRINSIC
transmembrane domain	398	420	N/A	INTRINSIC
low complexity region	510	533	N/A	INTRINSIC
low complexity region	615	632	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass membrane protein containing two RING-type and one IBR-type zinc finger motifs. The encoded protin is an E3 ubiquitin-protein ligase that plays a role in the cytotoxic effects of natural killer (NK) cells. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes X and Y in a possible pseudoautosomal region. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired NK cell cytolysis and an impaired ability to control introduced tumor cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	C	14: 56,016,407 (GRCm39)		probably null	Het
Atp8b1	A	T	18: 64,689,950 (GRCm39)	L594*	probably null	Het
Atp8b1	C	T	18: 64,701,318 (GRCm39)	V347I	probably benign	Het
Axin1	A	G	17: 26,392,745 (GRCm39)	D342G	probably damaging	Het
Bace2	G	A	16: 97,223,180 (GRCm39)	R368Q	probably damaging	Het
Capn10	T	C	1: 92,867,084 (GRCm39)	Y105H	probably damaging	Het
Ccdc89	T	G	7: 90,076,336 (GRCm39)	L182R	probably damaging	Het
Cdk5rap2	A	G	4: 70,233,568 (GRCm39)	F537S	probably benign	Het
Cidec	A	T	6: 113,405,399 (GRCm39)	M118K	probably damaging	Het
Cog8	A	T	8: 107,778,843 (GRCm39)		probably null	Het
Ctif	A	T	18: 75,652,952 (GRCm39)	L435Q	probably damaging	Het
Dhx9	A	G	1: 153,342,903 (GRCm39)	V533A	probably damaging	Het
Drc1	T	A	5: 30,520,441 (GRCm39)	M594K	probably benign	Het
Dthd1	C	T	5: 62,984,435 (GRCm39)	T380I	probably damaging	Het
Fat2	A	G	11: 55,156,777 (GRCm39)	S3475P	possibly damaging	Het
G6pd2	G	A	5: 61,967,686 (GRCm39)	R487H	possibly damaging	Het
Hcrtr2	A	G	9: 76,161,970 (GRCm39)	V140A	probably damaging	Het
Ikbke	C	T	1: 131,199,857 (GRCm39)	C243Y	probably damaging	Het
Il21	C	A	3: 37,279,633 (GRCm39)	E128*	probably null	Het
Kdm7a	C	T	6: 39,129,757 (GRCm39)	R473Q	probably damaging	Het
Me3	G	T	7: 89,498,938 (GRCm39)	R506L	probably benign	Het
Mtf2	T	A	5: 108,234,855 (GRCm39)		probably null	Het
Nbas	A	G	12: 13,633,528 (GRCm39)	N2311S	probably benign	Het
Nomo1	G	T	7: 45,690,904 (GRCm39)	V97L	probably damaging	Het
Pcdhb11	G	A	18: 37,556,787 (GRCm39)	V706I	possibly damaging	Het
Pkhd1	G	A	1: 20,282,082 (GRCm39)	R2920C	probably damaging	Het
Prox2	T	C	12: 85,141,817 (GRCm39)	T129A	probably benign	Het
Rgs18	T	G	1: 144,631,720 (GRCm39)	I131L	probably benign	Het
Rpl11	T	C	4: 135,778,522 (GRCm39)	Y122C	probably damaging	Het
Sarnp	A	G	10: 128,682,412 (GRCm39)	K5R	probably damaging	Het
Scg2	A	T	1: 79,412,898 (GRCm39)	H568Q	probably damaging	Het
Septin10	T	C	10: 59,019,417 (GRCm39)	Y150C	probably damaging	Het
Slco1b2	A	G	6: 141,616,893 (GRCm39)	T409A	probably benign	Het
Smco2	T	A	6: 146,772,674 (GRCm39)	V292D	possibly damaging	Het
Smok3c	A	G	5: 138,062,746 (GRCm39)	M78V	probably benign	Het
Spag16	C	A	1: 69,883,455 (GRCm39)	F61L	probably benign	Het
Spata22	G	A	11: 73,236,585 (GRCm39)	R297H	probably damaging	Het
Spata31d1e	A	G	13: 59,889,571 (GRCm39)	S750P	probably damaging	Het
Syt3	C	A	7: 44,045,368 (GRCm39)	P536Q	probably benign	Het
Tmem117	A	T	15: 94,992,677 (GRCm39)	M446L	probably benign	Het
Trim9	A	C	12: 70,393,892 (GRCm39)	Y17*	probably null	Het
Tsga10	A	G	1: 37,846,163 (GRCm39)	M321T	probably benign	Het
Ttc13	A	G	8: 125,402,016 (GRCm39)	L657P	probably damaging	Het
Ubxn1	C	T	19: 8,851,588 (GRCm39)	T207I	probably benign	Het
Vmn2r117	A	T	17: 23,678,851 (GRCm39)	V791D	probably damaging	Het
Vps54	C	G	11: 21,262,260 (GRCm39)	C785W	possibly damaging	Het
Zfp616	A	G	11: 73,973,860 (GRCm39)	D43G	probably benign	Het
Zfp952	A	G	17: 33,222,928 (GRCm39)	H469R	probably benign	Het

Other mutations in Rnf19b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00939:Rnf19b	APN	4	128,965,582 (GRCm39)	missense	probably damaging	1.00
IGL01478:Rnf19b	APN	4	128,952,623 (GRCm39)	missense	probably damaging	1.00
IGL01511:Rnf19b	APN	4	128,974,211 (GRCm39)	missense	probably damaging	1.00
IGL02052:Rnf19b	APN	4	128,965,613 (GRCm39)	missense	probably damaging	1.00
IGL02576:Rnf19b	APN	4	128,967,315 (GRCm39)	nonsense	probably null
IGL03140:Rnf19b	APN	4	128,977,889 (GRCm39)	missense	probably benign	0.01
PIT4519001:Rnf19b	UTSW	4	128,969,446 (GRCm39)	missense	probably damaging	1.00
R0632:Rnf19b	UTSW	4	128,967,344 (GRCm39)	missense	probably damaging	1.00
R1187:Rnf19b	UTSW	4	128,969,360 (GRCm39)	splice site	probably null
R1500:Rnf19b	UTSW	4	128,972,754 (GRCm39)	missense	probably damaging	1.00
R5185:Rnf19b	UTSW	4	128,977,713 (GRCm39)	nonsense	probably null
R5726:Rnf19b	UTSW	4	128,965,685 (GRCm39)	missense	possibly damaging	0.83
R5805:Rnf19b	UTSW	4	128,952,617 (GRCm39)	missense	probably damaging	1.00
R6737:Rnf19b	UTSW	4	128,979,344 (GRCm39)	unclassified	probably benign
R6941:Rnf19b	UTSW	4	128,976,572 (GRCm39)	missense	probably benign	0.01
R7235:Rnf19b	UTSW	4	128,977,571 (GRCm39)	missense
R8145:Rnf19b	UTSW	4	128,977,862 (GRCm39)	missense	probably benign	0.30
R8509:Rnf19b	UTSW	4	128,967,369 (GRCm39)	missense	probably damaging	1.00
R8792:Rnf19b	UTSW	4	128,952,478 (GRCm39)	missense	probably damaging	1.00
R9106:Rnf19b	UTSW	4	128,977,940 (GRCm39)	missense
R9568:Rnf19b	UTSW	4	128,967,397 (GRCm39)	missense	probably damaging	1.00
R9733:Rnf19b	UTSW	4	128,977,812 (GRCm39)	missense	probably damaging	0.99
Z1176:Rnf19b	UTSW	4	128,972,698 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTGTCAGGAAGTGAGCTG -3'
(R):5'- TCTCAAGGATGCATGGCTAAG -3'

Sequencing Primer
(F):5'- CAGGAAGTGAGCTGTTTTTCACAAG -3'
(R):5'- GATGCATGGCTAAGACAATCTC -3'

Posted On

2015-09-24