Mutagenetix > Incidental Mutation

Incidental Mutation 'R1187:Rnf19b'

102234

Institutional Source

Beutler Lab

Gene Symbol

Rnf19b

Ensembl Gene

ENSMUSG00000028793

Gene Name

ring finger protein 19B

Synonyms

4930555L03Rik, Ibrdc3, 4930534K13Rik

MMRRC Submission

039259-MU

Accession Numbers

Essential gene?

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

Stock #

R1187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128951871-128978319 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 128969360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131373 (fasta)

Gene Model

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

AlphaFold

A2A7Q9

Predicted Effect

probably null
Transcript: ENSMUST00000030584

SMART Domains

Protein: ENSMUSP00000030584
Gene: ENSMUSG00000028793

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 null
Transcript: ENSMUST00000097874

SMART Domains

Protein: ENSMUSP00000095484
Gene: ENSMUSG00000028793

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 null
Transcript: ENSMUST00000130803

SMART Domains

Protein: ENSMUSP00000121004
Gene: ENSMUSG00000028793

Domain	Start	End	E-Value	Type
low complexity region	72	95	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000152565

SMART Domains

Protein: ENSMUSP00000119611
Gene: ENSMUSG00000028793

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 null
Transcript: ENSMUST00000168461

SMART Domains

Protein: ENSMUSP00000131373
Gene: ENSMUSG00000028793

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: 98.9%
3x: 97.9%
10x: 95.1%
20x: 89.2%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,478,981 (GRCm39)	M4276I	probably benign	Het
Apol7b	A	T	15: 77,307,603 (GRCm39)	F297L	possibly damaging	Het
Capsl	C	T	15: 9,457,807 (GRCm39)	R9W	probably damaging	Het
Catsperb	T	C	12: 101,591,991 (GRCm39)	V1107A	probably benign	Het
Cip2a	T	A	16: 48,820,656 (GRCm39)	N132K	probably damaging	Het
Clca3a1	T	C	3: 144,715,504 (GRCm39)	I544M	probably benign	Het
Cma2	T	C	14: 56,210,280 (GRCm39)	V55A	probably benign	Het
Col10a1	A	T	10: 34,270,834 (GRCm39)	I269F	probably benign	Het
Col26a1	G	A	5: 136,773,020 (GRCm39)	H385Y	probably damaging	Het
Ctdp1	A	G	18: 80,492,702 (GRCm39)	Y598H	probably damaging	Het
Dnajc1	A	G	2: 18,289,520 (GRCm39)	S296P	probably benign	Het
Dvl2	A	T	11: 69,896,962 (GRCm39)	T250S	probably benign	Het
Etv1	A	G	12: 38,915,563 (GRCm39)	Y410C	probably damaging	Het
Krcc1	A	T	6: 71,261,612 (GRCm39)	K215*	probably null	Het
Lrr1	A	T	12: 69,221,796 (GRCm39)	T313S	probably benign	Het
Lrrc7	T	A	3: 157,866,039 (GRCm39)	E1234V	probably damaging	Het
Mepe	G	A	5: 104,486,114 (GRCm39)	R418H	probably damaging	Het
Myrfl	G	A	10: 116,667,447 (GRCm39)	T331I	probably damaging	Het
Nbeal1	T	C	1: 60,233,687 (GRCm39)	W26R	probably damaging	Het
Nsrp1	G	A	11: 76,936,853 (GRCm39)	P448S	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Olfml2a	A	G	2: 38,849,825 (GRCm39)	N514D	probably damaging	Het
Or2l5	T	C	16: 19,333,796 (GRCm39)	T197A	probably benign	Het
Or2y17	T	G	11: 49,231,417 (GRCm39)	D19E	probably damaging	Het
Pcdhb1	C	T	18: 37,398,597 (GRCm39)	R183C	probably damaging	Het
Phf14	T	G	6: 11,941,495 (GRCm39)	C41G	probably damaging	Het
Pkhd1l1	T	C	15: 44,361,447 (GRCm39)	V499A	possibly damaging	Het
Plcb4	A	G	2: 135,810,314 (GRCm39)	I638V	probably benign	Het
Ppp4c	T	A	7: 126,385,372 (GRCm39)	I296F	probably benign	Het
Prkdc	T	C	16: 15,577,610 (GRCm39)	V2388A	probably damaging	Het
Rgl1	T	C	1: 152,420,184 (GRCm39)	D353G	probably benign	Het
Ryr3	C	T	2: 112,788,521 (GRCm39)	D190N	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sema3e	G	A	5: 14,282,098 (GRCm39)	M411I	probably damaging	Het
Sgsh	A	T	11: 119,237,404 (GRCm39)	Y403*	probably null	Het
Sh2d7	T	A	9: 54,448,471 (GRCm39)	L164Q	probably benign	Het
Slfn8	A	T	11: 82,894,314 (GRCm39)	V775E	probably damaging	Het
Smgc	G	A	15: 91,744,798 (GRCm39)	G287S	probably damaging	Het
Soat1	T	A	1: 156,261,745 (GRCm39)	Y421F	probably damaging	Het
Sri	T	C	5: 8,109,416 (GRCm39)	Y52H	probably damaging	Het
Stat4	C	A	1: 52,115,836 (GRCm39)	Q259K	probably damaging	Het
Trpm5	A	G	7: 142,628,206 (GRCm39)	L1023P	probably damaging	Het
Ush1c	T	A	7: 45,858,338 (GRCm39)	N650I	probably benign	Het
Vmn2r8	G	T	5: 108,951,085 (GRCm39)	S120*	probably null	Het
Zbed6	G	A	1: 133,586,941 (GRCm39)	T132I	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp629	A	G	7: 127,209,401 (GRCm39)	S803P	probably benign	Het
Zfp629	T	C	7: 127,211,059 (GRCm39)	K250R	probably damaging	Het
Zfp758	T	A	17: 22,594,171 (GRCm39)	I187N	probably benign	Het
Zfp85	T	A	13: 67,897,835 (GRCm39)	K79I	probably damaging	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
R1500:Rnf19b	UTSW	4	128,972,754 (GRCm39)	missense	probably damaging	1.00
R4560:Rnf19b	UTSW	4	128,965,616 (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'- ACAGCACATTGGGTGAGATGTCAAG -3'
(R):5'- ACGTATACAGGGATGCCGATGACC -3'

Sequencing Primer
(F):5'- TCAAGTACAGACCTGTTCGG -3'
(R):5'- GGAATTGCAATGCCAGCA -3'

Posted On

2014-01-15