Mutagenetix > Incidental Mutation

Incidental Mutation 'R7235:Rnf19b'

562750

Institutional Source

Beutler Lab

Gene Symbol

Rnf19b

Ensembl Gene

ENSMUSG00000028793

Gene Name

ring finger protein 19B

Synonyms

4930555L03Rik, Ibrdc3, 4930534K13Rik

MMRRC Submission

045305-MU

Accession Numbers

Essential gene?

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

Stock #

R7235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128951871-128978319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128977571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 156 (H156R)

Gene Model

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

AlphaFold

A2A7Q9

Predicted Effect

probably benign
Transcript: ENSMUST00000030584
AA Change: H596R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030584
Gene: ENSMUSG00000028793
AA Change: H596R

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 benign
Transcript: ENSMUST00000097874
AA Change: H415R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095484
Gene: ENSMUSG00000028793
AA Change: H415R

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

SMART Domains

Protein: ENSMUSP00000121004
Gene: ENSMUSG00000028793
AA Change: H156R

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

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000168461
AA Change: H595R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000131373
Gene: ENSMUSG00000028793
AA Change: H595R

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,989,852 (GRCm39)	M3712K	unknown	Het
Bri3bp	A	G	5: 125,518,748 (GRCm39)	E8G	unknown	Het
Brip1	C	T	11: 86,029,701 (GRCm39)	R611Q	possibly damaging	Het
Carm1	T	G	9: 21,498,701 (GRCm39)		probably benign	Het
Catsper4	A	T	4: 133,939,892 (GRCm39)		probably null	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cip2a	T	A	16: 48,821,422 (GRCm39)	L176H	probably damaging	Het
Clk4	A	G	11: 51,167,012 (GRCm39)	D330G	probably damaging	Het
Dcdc2c	A	G	12: 28,520,718 (GRCm39)	S453P		Het
Ddx46	G	A	13: 55,811,053 (GRCm39)	V550I	probably benign	Het
Dennd1a	T	C	2: 37,691,073 (GRCm39)	N676D	probably benign	Het
Dnah3	T	C	7: 119,631,893 (GRCm39)	N1365S	probably damaging	Het
Dsg1b	T	C	18: 20,532,480 (GRCm39)	V508A	probably benign	Het
Dus2	T	C	8: 106,742,587 (GRCm39)	V39A	possibly damaging	Het
Dync1li1	T	C	9: 114,544,231 (GRCm39)	V301A	possibly damaging	Het
Efcc1	T	G	6: 87,730,780 (GRCm39)	S513A	probably benign	Het
Eif3f	T	C	7: 108,537,295 (GRCm39)	V167A	possibly damaging	Het
Ephb2	A	G	4: 136,421,139 (GRCm39)	Y404H	probably damaging	Het
Eqtn	A	T	4: 94,811,936 (GRCm39)	D152E	probably damaging	Het
Ercc5	A	C	1: 44,217,363 (GRCm39)	K902T	possibly damaging	Het
Erlec1	T	A	11: 30,900,751 (GRCm39)	E139V	possibly damaging	Het
Evl	G	A	12: 108,614,719 (GRCm39)	G38R	probably damaging	Het
Fads2b	T	G	2: 85,330,563 (GRCm39)	H248P	probably damaging	Het
Foxd2	T	C	4: 114,765,468 (GRCm39)	N184S	unknown	Het
Frem3	T	C	8: 81,417,354 (GRCm39)	Y2020H	probably benign	Het
Ganc	T	C	2: 120,264,198 (GRCm39)	F384L	probably damaging	Het
Grin2a	A	G	16: 9,397,129 (GRCm39)	L986P	probably damaging	Het
Ift140	A	T	17: 25,239,619 (GRCm39)	D92V	possibly damaging	Het
Inpp5b	A	G	4: 124,645,185 (GRCm39)	K158E	probably benign	Het
Iscu	T	A	5: 113,914,943 (GRCm39)	S152T	probably benign	Het
Isl2	C	T	9: 55,451,455 (GRCm39)	T115I	probably benign	Het
Kalrn	T	A	16: 33,996,131 (GRCm39)	T1542S	probably benign	Het
Kat6a	A	G	8: 23,404,285 (GRCm39)	D454G	possibly damaging	Het
Kcnj10	T	C	1: 172,196,993 (GRCm39)	I169T	probably damaging	Het
Klk12	T	C	7: 43,422,723 (GRCm39)	S217P	probably damaging	Het
Lancl1	T	C	1: 67,077,694 (GRCm39)	N14S	probably benign	Het
Map2	A	G	1: 66,453,807 (GRCm39)	Y899C	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Nr1h5	C	T	3: 102,856,358 (GRCm39)		probably null	Het
Nup98	T	C	7: 101,774,491 (GRCm39)	T1515A	probably damaging	Het
Obscn	A	C	11: 58,971,666 (GRCm39)	V2183G	probably damaging	Het
Or52n2	C	T	7: 104,541,926 (GRCm39)	R303Q	probably benign	Het
Osbpl8	A	G	10: 111,105,288 (GRCm39)	T248A	probably benign	Het
Pias3	T	A	3: 96,611,679 (GRCm39)	S533T	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxna1	A	G	6: 89,317,573 (GRCm39)	Y680H	probably damaging	Het
Pnliprp2	A	G	19: 58,763,659 (GRCm39)	N436S	probably benign	Het
Pold1	T	A	7: 44,191,244 (GRCm39)	M196L	probably benign	Het
Prkdc	G	A	16: 15,532,127 (GRCm39)	V1464I	probably benign	Het
Ptk2b	G	A	14: 66,394,536 (GRCm39)	Q857*	probably null	Het
Qars1	T	A	9: 108,387,331 (GRCm39)	L185Q	probably damaging	Het
Rabep1	A	G	11: 70,831,290 (GRCm39)	N859S	probably benign	Het
Sart3	T	C	5: 113,891,703 (GRCm39)	Q423R	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc6a21	C	T	7: 44,930,182 (GRCm39)	H194Y	probably damaging	Het
Tcf4	G	A	18: 69,790,866 (GRCm39)	V420I	probably damaging	Het
Tjp1	T	C	7: 64,968,321 (GRCm39)	D701G	probably benign	Het
Trim42	T	C	9: 97,251,761 (GRCm39)	D46G	probably damaging	Het
Usp19	C	T	9: 108,372,123 (GRCm39)	R429*	probably null	Het
Uxs1	T	C	1: 43,804,087 (GRCm39)	N276S	probably damaging	Het
Vps50	A	G	6: 3,588,078 (GRCm39)	I684V	probably benign	Het
Yars2	T	A	16: 16,122,556 (GRCm39)	D307E	probably benign	Het
Zfp934	A	T	13: 62,665,964 (GRCm39)	C258S		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
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
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'- AAGTGAGAAGTGAGCTCTGGTC -3'
(R):5'- ACGTCATCTGACTGCGTGTC -3'

Sequencing Primer
(F):5'- AGCTCTGGTCTACGTGGAC -3'
(R):5'- AGGCTGATGTCCCAAGCCTTG -3'

Posted On

2019-06-26