Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:Rnf19b'

59694

Institutional Source

Beutler Lab

Gene Symbol

Rnf19b

Ensembl Gene

ENSMUSG00000028793

Gene Name

ring finger protein 19B

Synonyms

4930555L03Rik, Ibrdc3, 4930534K13Rik

MMRRC Submission

038821-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R0632 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

129058271-129085886 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129073551 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 294 (N294K)

Ref Sequence

ENSEMBL: ENSMUSP00000131373 (fasta)

Gene Model

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

AlphaFold

A2A7Q9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030584
AA Change: N295K

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

SMART Domains

Protein: ENSMUSP00000030584
Gene: ENSMUSG00000028793
AA Change: N295K

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: N114K

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

SMART Domains

Protein: ENSMUSP00000095484
Gene: ENSMUSG00000028793
AA Change: N114K

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

possibly damaging
Transcript: ENSMUST00000152565
AA Change: N113K

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119611
Gene: ENSMUSG00000028793
AA Change: N113K

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: N294K

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

SMART Domains

Protein: ENSMUSP00000131373
Gene: ENSMUSG00000028793
AA Change: N294K

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

Meta Mutation Damage Score

0.1252

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	C	1: 136,227,618	D83G	probably benign	Het
Acaa1a	T	A	9: 119,347,818		probably benign	Het
Adgrg7	T	A	16: 56,742,589	T462S	possibly damaging	Het
Akap6	A	T	12: 52,937,148	N825I	probably damaging	Het
Ankib1	T	A	5: 3,772,529	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167	S633G	possibly damaging	Het
Ap4e1	C	A	2: 127,049,280	Y522*	probably null	Het
Art5	G	A	7: 102,097,957	T205I	probably damaging	Het
Ascc2	T	A	11: 4,649,855	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,298,208	D529G	probably benign	Het
C2cd4a	T	C	9: 67,831,563	E66G	probably benign	Het
C8a	T	C	4: 104,856,492	D147G	probably damaging	Het
Ccdc14	T	C	16: 34,721,649	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,482,749		probably benign	Het
Cfap54	C	T	10: 92,885,096	E2543K	unknown	Het
Cldn13	C	T	5: 134,914,747	E195K	probably benign	Het
Cp	A	G	3: 19,971,082	S402G	probably null	Het
Cpa3	T	C	3: 20,225,194	T194A	probably benign	Het
Crygf	C	A	1: 65,927,997	Y93*	probably null	Het
Ctsh	A	G	9: 90,061,582	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 27,158,246	D428G	possibly damaging	Het
Dnah17	C	G	11: 118,067,682		probably benign	Het
Dnah3	A	G	7: 119,967,905	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,732,134	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,272,346		probably benign	Het
Dst	G	T	1: 34,271,413	R4098L	probably damaging	Het
Efhb	A	G	17: 53,413,459		probably benign	Het
Epha7	A	T	4: 28,821,104	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,437,881	D684V	probably damaging	Het
Fan1	A	G	7: 64,363,199	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,037,747	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,073,918	A2V	probably benign	Het
G6pd2	A	G	5: 61,810,171	N430D	probably benign	Het
Gm13119	G	A	4: 144,363,782	C464Y	probably damaging	Het
Gm13547	T	A	2: 29,761,584	D7E	possibly damaging	Het
Hdac5	A	T	11: 102,205,812	D260E	probably damaging	Het
Hist1h4i	G	T	13: 22,041,027	Y99*	probably null	Het
Hsf2bp	T	C	17: 32,013,346	E142G	probably damaging	Het
Igf1r	C	T	7: 68,165,155	T268I	probably damaging	Het
Kcne3	C	T	7: 100,184,439	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,979,372	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,853,581		probably benign	Het
Lama1	C	T	17: 67,752,368		probably benign	Het
Lcp2	C	T	11: 34,082,426	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,796,028	N2047K	probably damaging	Het
Mcub	T	C	3: 129,918,726	M167V	probably benign	Het
Mia2	T	C	12: 59,136,143	L36P	probably damaging	Het
Mmp13	A	T	9: 7,282,077	I460F	possibly damaging	Het
Mmp13	G	A	9: 7,274,032	G169R	probably damaging	Het
Msh4	A	G	3: 153,896,895	I232T	probably damaging	Het
Msra	T	A	14: 64,210,532	M145L	probably benign	Het
Myo7a	A	T	7: 98,112,150		probably benign	Het
Nme8	A	T	13: 19,658,036	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115	F353I	probably damaging	Het
Nphp3	A	G	9: 104,018,274	K384E	probably damaging	Het
Olfr572	C	T	7: 102,928,604		probably null	Het
Olfr652	A	G	7: 104,564,337	I39V	probably benign	Het
Olfr672	A	G	7: 104,996,703	I67T	probably benign	Het
Phox2b	T	G	5: 67,096,214		probably benign	Het
Plec	A	T	15: 76,173,411	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,313,591		probably benign	Het
Prpf40b	A	G	15: 99,316,289	E810G	probably benign	Het
Ptprc	C	T	1: 138,073,610	V965I	probably benign	Het
Pum1	T	A	4: 130,728,104	M180K	probably benign	Het
Ranbp3	T	C	17: 56,702,896		probably benign	Het
Rasgrf2	A	G	13: 91,972,274	S787P	probably benign	Het
Samd3	A	T	10: 26,244,495	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 33,880,031	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,125,080	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,129,641	F279Y	probably damaging	Het
Slc6a2	T	A	8: 92,992,801		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tab2	A	G	10: 7,919,801	S232P	probably benign	Het
Tacc2	A	T	7: 130,625,595	K1356*	probably null	Het
Tmem87a	A	G	2: 120,359,542	S544P	probably damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Usp38	A	T	8: 81,014,150	V96E	probably benign	Het
Vmn2r59	T	C	7: 42,058,884	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,464,137	V171G	probably damaging	Het
Zfp957	T	A	14: 79,212,920	I480F	probably damaging	Het

Other mutations in Rnf19b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00939:Rnf19b	APN	4	129071789	missense	probably damaging	1.00
IGL01478:Rnf19b	APN	4	129058830	missense	probably damaging	1.00
IGL01511:Rnf19b	APN	4	129080418	missense	probably damaging	1.00
IGL02052:Rnf19b	APN	4	129071820	missense	probably damaging	1.00
IGL02576:Rnf19b	APN	4	129073522	nonsense	probably null
IGL03140:Rnf19b	APN	4	129084096	missense	probably benign	0.01
PIT4519001:Rnf19b	UTSW	4	129075653	missense	probably damaging	1.00
R1187:Rnf19b	UTSW	4	129075567	splice site	probably null
R1500:Rnf19b	UTSW	4	129078961	missense	probably damaging	1.00
R4560:Rnf19b	UTSW	4	129071823	missense	probably damaging	1.00
R5185:Rnf19b	UTSW	4	129083920	nonsense	probably null
R5726:Rnf19b	UTSW	4	129071892	missense	possibly damaging	0.83
R5805:Rnf19b	UTSW	4	129058824	missense	probably damaging	1.00
R6737:Rnf19b	UTSW	4	129085551	unclassified	probably benign
R6941:Rnf19b	UTSW	4	129082779	missense	probably benign	0.01
R7235:Rnf19b	UTSW	4	129083778	missense
R8145:Rnf19b	UTSW	4	129084069	missense	probably benign	0.30
R8509:Rnf19b	UTSW	4	129073576	missense	probably damaging	1.00
R8792:Rnf19b	UTSW	4	129058685	missense	probably damaging	1.00
R9106:Rnf19b	UTSW	4	129084147	missense
R9568:Rnf19b	UTSW	4	129073604	missense	probably damaging	1.00
R9733:Rnf19b	UTSW	4	129084019	missense	probably damaging	0.99
Z1176:Rnf19b	UTSW	4	129078905	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACACACTTTGGGATCGTCAGGC -3'
(R):5'- ATGGAAGTCAGTCACCGAGACTGC -3'

Sequencing Primer
(F):5'- CTTTGGGATCGTCAGGCAAAATC -3'
(R):5'- AAGGAGCGTCTTACAATTTCCTC -3'

Posted On

2013-07-11