Mutagenetix > Incidental Mutation

Incidental Mutation 'R9106:Rnf19b'

692002

Institutional Source

Beutler Lab

Gene Symbol

Rnf19b

Ensembl Gene

ENSMUSG00000028793

Gene Name

ring finger protein 19B

Synonyms

4930555L03Rik, Ibrdc3, 4930534K13Rik

MMRRC Submission

068970-MU

Accession Numbers

Essential gene?

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

Stock #

R9106 (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 128977940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 719 (E719G)

Ref Sequence

ENSEMBL: ENSMUSP00000030584 (fasta)

Gene Model

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

AlphaFold

A2A7Q9

Predicted Effect

SMART Domains

Protein: ENSMUSP00000030584
Gene: ENSMUSG00000028793
AA Change: E719G

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

possibly damaging
Transcript: ENSMUST00000097874
AA Change: E538G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095484
Gene: ENSMUSG00000028793
AA Change: E538G

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 benign
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 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 damaging
Transcript: ENSMUST00000168461
AA Change: E718G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131373
Gene: ENSMUSG00000028793
AA Change: E718G

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (63/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	C	A	1: 179,614,601 (GRCm39)	K394N	probably benign	Het
Banp	A	T	8: 122,705,372 (GRCm39)	T81S	possibly damaging	Het
Btn2a2	T	C	13: 23,662,465 (GRCm39)	E495G	probably benign	Het
Cfap69	T	C	5: 5,690,190 (GRCm39)	I158M	possibly damaging	Het
Cgnl1	C	A	9: 71,628,873 (GRCm39)		probably benign	Het
Clip1	T	A	5: 123,753,223 (GRCm39)	Q186L	probably damaging	Het
Clspn	G	A	4: 126,471,243 (GRCm39)		probably benign	Het
Cnst	A	G	1: 179,432,162 (GRCm39)	E224G	probably damaging	Het
Ctdsp1	T	C	1: 74,433,884 (GRCm39)	L155P	probably damaging	Het
D5Ertd579e	C	T	5: 36,773,682 (GRCm39)	A238T	probably benign	Het
Dnah6	T	C	6: 73,121,752 (GRCm39)	Y1410C	probably damaging	Het
Fam186a	AGCCGCTGCCGCTGCCGCTGCCGC	AGCCGCTGCCGCTGCCGC	15: 99,844,107 (GRCm39)		probably benign	Het
Farp2	T	C	1: 93,488,910 (GRCm39)		probably null	Het
Galnt7	T	G	8: 57,985,729 (GRCm39)	D547A	probably damaging	Het
Gm1527	C	A	3: 28,956,440 (GRCm39)	D135E	probably damaging	Het
Grm5	T	C	7: 87,723,747 (GRCm39)	I679T	probably damaging	Het
Hectd4	C	A	5: 121,467,619 (GRCm39)	R2523S	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Htr1f	A	T	16: 64,746,637 (GRCm39)	S218R	probably damaging	Het
Lrit1	G	A	14: 36,776,891 (GRCm39)	A4T	unknown	Het
Ly6f	G	T	15: 75,141,706 (GRCm39)	D50Y	probably damaging	Het
Mafg	GGTTCTTCAGTGT	GGT	11: 120,520,415 (GRCm39)		probably null	Het
Map2	T	A	1: 66,454,522 (GRCm39)	Y1137*	probably null	Het
Map4k3	C	A	17: 81,035,257 (GRCm39)	R21L	possibly damaging	Het
Mapk10	A	T	5: 103,186,442 (GRCm39)	V90D	probably damaging	Het
Mapkapk3	T	A	9: 107,136,067 (GRCm39)	E219V	probably damaging	Het
Mideas	T	C	12: 84,199,327 (GRCm39)	Y1040C	probably damaging	Het
Mos	T	G	4: 3,871,457 (GRCm39)	I120L	probably benign	Het
Mrgprb4	A	G	7: 47,848,679 (GRCm39)	V83A	probably benign	Het
Mrnip	A	G	11: 50,065,768 (GRCm39)	Q19R	probably damaging	Het
Myrip	T	C	9: 120,261,544 (GRCm39)	S386P	probably benign	Het
Mzt2	A	G	16: 15,666,568 (GRCm39)	W141R	probably benign	Het
Ncam1	A	G	9: 49,428,856 (GRCm39)	Y710H	probably damaging	Het
Nlrp9c	G	T	7: 26,081,837 (GRCm39)	L630I	probably benign	Het
Odad2	A	T	18: 7,294,527 (GRCm39)	S29T	probably benign	Het
Oplah	C	A	15: 76,189,876 (GRCm39)	G150C	probably benign	Het
Or4c11b	A	G	2: 88,625,016 (GRCm39)	T97A	probably benign	Het
Or51q1	A	T	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or52a20	G	A	7: 103,366,737 (GRCm39)	C312Y	probably benign	Het
Or6k2	A	G	1: 173,986,369 (GRCm39)	Q10R	probably benign	Het
Patl1	A	G	19: 11,908,973 (GRCm39)	K460R	probably damaging	Het
Pdgfrb	A	T	18: 61,179,100 (GRCm39)		probably null	Het
Phldb2	T	C	16: 45,680,757 (GRCm39)	I17V	probably benign	Het
Ppp3r1	A	G	11: 17,144,789 (GRCm39)	D134G	probably damaging	Het
Ppp4r4	C	T	12: 103,570,315 (GRCm39)	T763I	probably benign	Het
Prmt9	A	G	8: 78,276,358 (GRCm39)	D61G	probably benign	Het
Ptk2	T	C	15: 73,131,457 (GRCm39)	M589V	possibly damaging	Het
Rabl6	A	G	2: 25,486,446 (GRCm39)	W153R	probably benign	Het
Rb1cc1	A	G	1: 6,319,109 (GRCm39)	I843V		Het
Resf1	T	C	6: 149,230,368 (GRCm39)	V1138A	possibly damaging	Het
Sart3	T	C	5: 113,892,410 (GRCm39)	D363G	possibly damaging	Het
Sgo2a	C	A	1: 58,037,283 (GRCm39)	D9E	possibly damaging	Het
Slc27a5	A	G	7: 12,725,097 (GRCm39)	V450A	probably benign	Het
Slc8b1	T	A	5: 120,668,416 (GRCm39)	Y483N	probably damaging	Het
Slco1b2	A	G	6: 141,617,974 (GRCm39)	T475A	probably damaging	Het
Slfn3	T	C	11: 83,103,458 (GRCm39)	F110L	probably benign	Het
Spata31e5	T	C	1: 28,815,975 (GRCm39)	I686V	probably benign	Het
Ssr2	T	A	3: 88,495,269 (GRCm39)	Y175N	probably damaging	Het
Tagap	A	T	17: 8,150,280 (GRCm39)	N222Y	probably damaging	Het
Tecta	C	T	9: 42,278,479 (GRCm39)	V1010M	probably benign	Het
Trim36	A	T	18: 46,300,664 (GRCm39)	I669N	possibly damaging	Het
Ubp1	A	G	9: 113,799,319 (GRCm39)	T425A	probably benign	Het
Usp47	T	C	7: 111,681,713 (GRCm39)	I508T	probably damaging	Het
Vit	G	A	17: 78,934,278 (GRCm39)	D627N	probably damaging	Het
Vmn2r59	A	T	7: 41,695,884 (GRCm39)	I176N	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
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
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'- AGCAAGGCTTGGGACATCAG -3'
(R):5'- ATTGCCAACATCAGTTTAGCC -3'

Sequencing Primer
(F):5'- TTGGGACATCAGCCTGGC -3'
(R):5'- TTGTAAATTTCTCAGAACTTCCCTGG -3'

Posted On

2021-12-30