Mutagenetix > Incidental Mutation

Incidental Mutation 'R1586:Znrf3'

177521

Institutional Source

Beutler Lab

Gene Symbol

Znrf3

Ensembl Gene

ENSMUSG00000041961

Gene Name

zinc and ring finger 3

Synonyms

LOC382477

MMRRC Submission

039623-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1586 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5226329-5394847 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5231477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 583 (R583G)

Ref Sequence

ENSEMBL: ENSMUSP00000134698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109867] [ENSMUST00000172492]

AlphaFold

Q5SSZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109867
AA Change: R679G

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105493
Gene: ENSMUSG00000041961
AA Change: R679G

Domain	Start	End	E-Value	Type
signal peptide	1	52	N/A	INTRINSIC
PDB:4CDK\|D	53	205	1e-103	PDB
transmembrane domain	218	235	N/A	INTRINSIC
RING	290	330	1.56e-6	SMART
low complexity region	442	455	N/A	INTRINSIC
low complexity region	545	567	N/A	INTRINSIC
low complexity region	895	913	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172492
AA Change: R583G

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

SMART Domains

Protein: ENSMUSP00000134698
Gene: ENSMUSG00000041961
AA Change: R583G

Domain	Start	End	E-Value	Type
PDB:4CDK\|D	2	109	5e-70	PDB
transmembrane domain	122	139	N/A	INTRINSIC
RING	194	234	1.56e-6	SMART
low complexity region	346	359	N/A	INTRINSIC
low complexity region	449	471	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

93% (65/70)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit complete lethality around birth, aphakia, abnormal lens development and defective enural tube closure in some mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,337,228 (GRCm39)	A2361V	probably damaging	Het
Alpi	A	G	1: 87,027,923 (GRCm39)	I219T	probably damaging	Het
Anapc10	T	A	8: 80,501,772 (GRCm39)	M180K	probably benign	Het
Ank3	A	G	10: 69,713,708 (GRCm39)	I431V	probably damaging	Het
Anxa8	T	A	14: 33,815,894 (GRCm39)	D182E	probably damaging	Het
Atp1a3	T	A	7: 24,678,808 (GRCm39)	I945F	probably damaging	Het
Atp2a3	T	C	11: 72,882,570 (GRCm39)	S1019P	probably damaging	Het
Cbs	T	A	17: 31,841,448 (GRCm39)	I258F	probably damaging	Het
Cic	T	C	7: 24,985,386 (GRCm39)	S277P	probably damaging	Het
Cidea	T	A	18: 67,493,230 (GRCm39)	V83E	probably damaging	Het
Cilp	G	A	9: 65,186,997 (GRCm39)	G1031S	probably damaging	Het
Clca3a2	A	G	3: 144,516,477 (GRCm39)	I373T	possibly damaging	Het
Cpvl	T	A	6: 53,903,886 (GRCm39)	D293V	probably damaging	Het
Cryz	A	G	3: 154,317,147 (GRCm39)	N122S	probably benign	Het
Dmap1	T	C	4: 117,533,319 (GRCm39)	E245G	probably damaging	Het
Epha2	C	T	4: 141,045,916 (GRCm39)		probably benign	Het
Fam222b	C	T	11: 78,045,347 (GRCm39)	L303F	probably damaging	Het
Fastkd1	T	C	2: 69,542,492 (GRCm39)	D105G	probably benign	Het
Fat4	T	A	3: 38,943,009 (GRCm39)	L634Q	probably damaging	Het
Fbxo10	A	T	4: 45,042,036 (GRCm39)	I731N	possibly damaging	Het
Fig4	A	G	10: 41,141,423 (GRCm39)	F279L	probably damaging	Het
Guk1	A	G	11: 59,077,675 (GRCm39)	S22P	probably damaging	Het
Kmt2d	A	G	15: 98,762,934 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,403,639 (GRCm39)	S727T	probably benign	Het
Mki67	T	A	7: 135,315,701 (GRCm39)	K54*	probably null	Het
Ms4a8a	T	C	19: 11,053,696 (GRCm39)	T137A	possibly damaging	Het
Myo5c	T	C	9: 75,174,313 (GRCm39)	Y557H	probably damaging	Het
Nav3	T	A	10: 109,689,115 (GRCm39)	K387N	probably damaging	Het
Oga	T	G	19: 45,765,349 (GRCm39)	T153P	possibly damaging	Het
Or5bb10	G	T	19: 12,206,241 (GRCm39)	A223E	probably damaging	Het
Pde4c	T	A	8: 71,199,508 (GRCm39)	Y223N	probably damaging	Het
Psd	T	G	19: 46,303,237 (GRCm39)	E715A	probably damaging	Het
Rpl7	A	T	1: 16,172,807 (GRCm39)	S171T	probably benign	Het
Rrm1	A	G	7: 102,116,112 (GRCm39)	*66W	probably null	Het
Scgb1b3	T	A	7: 31,075,388 (GRCm39)	H79Q	probably damaging	Het
Serpinb9	A	T	13: 33,199,469 (GRCm39)	M255L	probably benign	Het
Slc35a4	T	C	18: 36,816,058 (GRCm39)	V296A	probably benign	Het
Smgc	G	A	15: 91,722,596 (GRCm39)	A9T	possibly damaging	Het
Snx11	C	A	11: 96,661,522 (GRCm39)	W161L	probably benign	Het
Spag17	A	G	3: 99,929,068 (GRCm39)	K533E	possibly damaging	Het
Spata31g1	A	G	4: 42,971,512 (GRCm39)	I282V	probably benign	Het
Speer4b	A	G	5: 27,702,011 (GRCm39)	S250P	probably damaging	Het
Spta1	A	T	1: 174,041,061 (GRCm39)	H1287L	probably benign	Het
Surf2	T	C	2: 26,809,767 (GRCm39)	F239S	probably damaging	Het
Tada1	G	A	1: 166,214,319 (GRCm39)	R106H	possibly damaging	Het
Tbc1d22a	C	A	15: 86,235,852 (GRCm39)		probably null	Het
Tbcd	A	G	11: 121,387,886 (GRCm39)	Q339R	probably benign	Het
Tdrd7	A	G	4: 45,994,445 (GRCm39)	H281R	probably benign	Het
Tomm5	A	G	4: 45,107,915 (GRCm39)		probably null	Het
Ttc7	T	C	17: 87,669,373 (GRCm39)		probably null	Het
Ulk1	A	T	5: 110,937,382 (GRCm39)	F638Y	probably damaging	Het
Vps35l	T	A	7: 118,409,195 (GRCm39)	I612N	probably damaging	Het
Wdr93	C	A	7: 79,418,109 (GRCm39)	D277E	probably damaging	Het
Zscan29	T	A	2: 120,991,641 (GRCm39)	I716F	probably damaging	Het

Other mutations in Znrf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Znrf3	APN	11	5,239,039 (GRCm39)	missense	probably damaging	1.00
IGL01387:Znrf3	APN	11	5,288,656 (GRCm39)	nonsense	probably null
IGL02895:Znrf3	APN	11	5,239,085 (GRCm39)	missense	probably damaging	0.97
R0788:Znrf3	UTSW	11	5,231,320 (GRCm39)	missense	probably benign	0.04
R1383:Znrf3	UTSW	11	5,231,994 (GRCm39)	missense	probably damaging	0.96
R1544:Znrf3	UTSW	11	5,239,066 (GRCm39)	missense	probably damaging	1.00
R1556:Znrf3	UTSW	11	5,231,347 (GRCm39)	missense	probably benign	0.01
R1852:Znrf3	UTSW	11	5,237,455 (GRCm39)	missense	possibly damaging	0.94
R1864:Znrf3	UTSW	11	5,233,373 (GRCm39)	missense	possibly damaging	0.95
R1927:Znrf3	UTSW	11	5,231,062 (GRCm39)	missense	probably benign	0.28
R2353:Znrf3	UTSW	11	5,231,170 (GRCm39)	missense	probably damaging	1.00
R2884:Znrf3	UTSW	11	5,239,693 (GRCm39)	missense	probably damaging	1.00
R2885:Znrf3	UTSW	11	5,239,693 (GRCm39)	missense	probably damaging	1.00
R4021:Znrf3	UTSW	11	5,231,278 (GRCm39)	missense	possibly damaging	0.68
R4811:Znrf3	UTSW	11	5,237,420 (GRCm39)	missense	probably benign	0.07
R4935:Znrf3	UTSW	11	5,233,422 (GRCm39)	missense	probably damaging	1.00
R5218:Znrf3	UTSW	11	5,231,519 (GRCm39)	missense	possibly damaging	0.95
R5584:Znrf3	UTSW	11	5,236,218 (GRCm39)	missense	probably damaging	1.00
R5698:Znrf3	UTSW	11	5,239,006 (GRCm39)	intron	probably benign
R5715:Znrf3	UTSW	11	5,236,239 (GRCm39)	missense	possibly damaging	0.91
R5900:Znrf3	UTSW	11	5,232,110 (GRCm39)	missense	probably damaging	0.98
R5988:Znrf3	UTSW	11	5,231,776 (GRCm39)	missense	probably damaging	1.00
R6253:Znrf3	UTSW	11	5,230,865 (GRCm39)	missense	probably benign	0.14
R7057:Znrf3	UTSW	11	5,232,442 (GRCm39)	missense	probably benign	0.00
R7062:Znrf3	UTSW	11	5,231,550 (GRCm39)	missense	probably damaging	1.00
R7410:Znrf3	UTSW	11	5,238,955 (GRCm39)	missense	unknown
R7881:Znrf3	UTSW	11	5,394,533 (GRCm39)	missense	unknown
R9449:Znrf3	UTSW	11	5,288,710 (GRCm39)	nonsense	probably null
R9468:Znrf3	UTSW	11	5,288,696 (GRCm39)	missense	probably damaging	0.99
R9522:Znrf3	UTSW	11	5,232,379 (GRCm39)	missense	probably damaging	1.00
R9648:Znrf3	UTSW	11	5,231,915 (GRCm39)	missense	probably damaging	1.00
R9683:Znrf3	UTSW	11	5,394,465 (GRCm39)	missense	possibly damaging	0.59
R9715:Znrf3	UTSW	11	5,232,454 (GRCm39)	missense	possibly damaging	0.93
Z1177:Znrf3	UTSW	11	5,236,168 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCAGGGCAAGCCCTCATATTTCAC -3'
(R):5'- ACTATGACCCCTTCATCTACCGCAG -3'

Sequencing Primer
(F):5'- TCTGAGTGAAGACCATACAGGC -3'
(R):5'- ACACAGTCAAAGTGCTGGG -3'

Posted On

2014-04-24