Mutagenetix > Incidental Mutation

Incidental Mutation 'R4021:Znrf3'

313249

Institutional Source

Beutler Lab

Gene Symbol

Znrf3

Ensembl Gene

ENSMUSG00000041961

Gene Name

zinc and ring finger 3

Synonyms

LOC382477

MMRRC Submission

040955-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4021 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5276324-5444847 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5281278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 745 (D745G)

Ref Sequence

ENSEMBL: ENSMUSP00000105493 (fasta)

Gene Model

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

AlphaFold

Q5SSZ7

PDB Structure

mouse ZNRF3 ectodomain crystal form I [X-RAY DIFFRACTION]
mouse ZNRF3 ectodomain crystal form II [X-RAY DIFFRACTION]
mouse ZNRF3 ectodomain crystal form III [X-RAY DIFFRACTION]
mouse ZNRF3 ectodomain crystal form IV [X-RAY DIFFRACTION]
mouse ZNRF3 ectodomain crystal form V, disulfide-bridged S90C variant [X-RAY DIFFRACTION]
Mouse ZNRF3 ectodomain in complex with mouse RSPO2 Fu1-Fu2 crystal form I [X-RAY DIFFRACTION]
Mouse ZNRF3 ectodomain in complex with Xenopus RSPO2 Fu1-Fu2 (Seleno Met) crystal form I [X-RAY DIFFRACTION]
Mouse ZNRF3 ectodomain in complex with Xenopus RSPO2 Fu1-Fu2 (Seleno Met) crystal form II [X-RAY DIFFRACTION]
Structure of ZNRF3 ectodomain [X-RAY DIFFRACTION]
Structure of ZNRF3-RSPO1 [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109867
AA Change: D745G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105493
Gene: ENSMUSG00000041961
AA Change: D745G

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

possibly damaging
Transcript: ENSMUST00000172492
AA Change: D649G

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134698
Gene: ENSMUSG00000041961
AA Change: D649G

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

Meta Mutation Damage Score

0.0734

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

Validation Efficiency

100% (65/65)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,620,088	L102P	probably benign	Het
Adcy4	C	T	14: 55,775,178		probably null	Het
Adgrf5	A	T	17: 43,430,714		probably benign	Het
Atp11a	A	G	8: 12,842,938	K643R	probably benign	Het
Cacna2d2	C	T	9: 107,514,058	T428M	probably damaging	Het
Cdh22	T	C	2: 165,143,673	D331G	possibly damaging	Het
Chmp3	T	C	6: 71,574,238		probably null	Het
Csnk2a1	C	T	2: 152,258,689	T127M	probably damaging	Het
Cyp2c55	T	A	19: 39,035,434		probably null	Het
Ddias	G	T	7: 92,861,478	D105E	possibly damaging	Het
Dnajb11	A	G	16: 22,869,446	D238G	probably damaging	Het
Dock7	T	C	4: 99,003,920		probably null	Het
Dock9	T	C	14: 121,626,912	K761E	possibly damaging	Het
Entpd7	G	A	19: 43,691,158	R50Q	probably benign	Het
Fam107b	G	A	2: 3,778,474	R238Q	probably damaging	Het
Fam186a	G	C	15: 99,941,799	T2188S	possibly damaging	Het
Farsa	A	G	8: 84,868,870	T465A	probably damaging	Het
Fibp	T	C	19: 5,460,734		probably null	Het
Flywch2	G	A	17: 23,777,039	T128I	possibly damaging	Het
Foxi2	A	T	7: 135,410,530	D49V	probably damaging	Het
Fstl5	A	G	3: 76,628,975	T31A	probably benign	Het
Gabbr2	G	A	4: 46,846,435	T158I	probably damaging	Het
Gbp4	T	A	5: 105,120,923	R455W	probably damaging	Het
Gm11492	A	G	11: 87,567,280	E160G	probably damaging	Het
Got2	T	G	8: 95,877,753	D69A	probably damaging	Het
Gpr63	T	C	4: 25,008,470	F398S	possibly damaging	Het
Gtf2h4	T	C	17: 35,670,664	M186V	probably benign	Het
Haus2	A	T	2: 120,615,930	Q111L	probably damaging	Het
Hexdc	T	C	11: 121,218,161		probably null	Het
Igf2r	T	A	17: 12,748,751	N27I	probably damaging	Het
Itgax	T	A	7: 128,133,139		probably null	Het
Krit1	T	A	5: 3,832,132	I596K	probably benign	Het
Lair1	A	G	7: 4,055,916		probably null	Het
Lilra6	G	T	7: 3,911,418	T276K	probably benign	Het
Mast4	G	A	13: 102,739,321	R1112*	probably null	Het
Mrgprb1	A	T	7: 48,447,123	I347N	possibly damaging	Het
Mroh2b	T	A	15: 4,925,100	C682S	possibly damaging	Het
Mtif3	T	A	5: 146,955,678	R249S	possibly damaging	Het
Mycbp2	C	T	14: 103,152,157	E3406K	probably damaging	Het
Myo15b	A	G	11: 115,873,505	H1315R	probably benign	Het
Nlrp2	A	G	7: 5,325,012	F681L	probably benign	Het
Olfr1157	T	A	2: 87,962,722	T57S	possibly damaging	Het
Olfr703	T	A	7: 106,845,019	M136K	probably damaging	Het
Pear1	T	C	3: 87,756,222	N390D	possibly damaging	Het
Ranbp17	G	A	11: 33,479,189	A352V	probably benign	Het
Rnf17	C	T	14: 56,460,001	H451Y	probably damaging	Het
Sag	A	T	1: 87,821,305		probably null	Het
Slc22a2	T	C	17: 12,584,489	L70P	probably damaging	Het
Slc32a1	C	T	2: 158,611,232		probably benign	Het
Spag17	A	T	3: 100,049,230	I881F	probably benign	Het
Taar7a	G	T	10: 23,993,386	N32K	probably benign	Het
Tbck	C	A	3: 132,727,134	T435K	probably damaging	Het
Tril	T	G	6: 53,819,019	D406A	probably damaging	Het
Tshz2	G	A	2: 169,885,862	D324N	probably damaging	Het
Vps13d	A	G	4: 145,075,061	V2349A	possibly damaging	Het
Wdr6	A	G	9: 108,575,206	W493R	probably damaging	Het
Wdr72	G	A	9: 74,151,593	V323I	probably benign	Het
Zfp488	T	A	14: 33,971,153	M18L	probably benign	Het
Zic4	A	G	9: 91,379,036	T108A	probably benign	Het

Other mutations in Znrf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Znrf3	APN	11	5289039	missense	probably damaging	1.00
IGL01387:Znrf3	APN	11	5338656	nonsense	probably null
IGL02895:Znrf3	APN	11	5289085	missense	probably damaging	0.97
R0788:Znrf3	UTSW	11	5281320	missense	probably benign	0.04
R1383:Znrf3	UTSW	11	5281994	missense	probably damaging	0.96
R1544:Znrf3	UTSW	11	5289066	missense	probably damaging	1.00
R1556:Znrf3	UTSW	11	5281347	missense	probably benign	0.01
R1586:Znrf3	UTSW	11	5281477	missense	probably damaging	1.00
R1852:Znrf3	UTSW	11	5287455	missense	possibly damaging	0.94
R1864:Znrf3	UTSW	11	5283373	missense	possibly damaging	0.95
R1927:Znrf3	UTSW	11	5281062	missense	probably benign	0.28
R2353:Znrf3	UTSW	11	5281170	missense	probably damaging	1.00
R2884:Znrf3	UTSW	11	5289693	missense	probably damaging	1.00
R2885:Znrf3	UTSW	11	5289693	missense	probably damaging	1.00
R4811:Znrf3	UTSW	11	5287420	missense	probably benign	0.07
R4935:Znrf3	UTSW	11	5283422	missense	probably damaging	1.00
R5218:Znrf3	UTSW	11	5281519	missense	possibly damaging	0.95
R5584:Znrf3	UTSW	11	5286218	missense	probably damaging	1.00
R5698:Znrf3	UTSW	11	5289006	intron	probably benign
R5715:Znrf3	UTSW	11	5286239	missense	possibly damaging	0.91
R5900:Znrf3	UTSW	11	5282110	missense	probably damaging	0.98
R5988:Znrf3	UTSW	11	5281776	missense	probably damaging	1.00
R6253:Znrf3	UTSW	11	5280865	missense	probably benign	0.14
R7057:Znrf3	UTSW	11	5282442	missense	probably benign	0.00
R7062:Znrf3	UTSW	11	5281550	missense	probably damaging	1.00
R7410:Znrf3	UTSW	11	5288955	missense	unknown
R7881:Znrf3	UTSW	11	5444533	missense	unknown
R9449:Znrf3	UTSW	11	5338710	nonsense	probably null
R9468:Znrf3	UTSW	11	5338696	missense	probably damaging	0.99
R9522:Znrf3	UTSW	11	5282379	missense	probably damaging	1.00
R9648:Znrf3	UTSW	11	5281915	missense	probably damaging	1.00
R9683:Znrf3	UTSW	11	5444465	missense	possibly damaging	0.59
R9715:Znrf3	UTSW	11	5282454	missense	possibly damaging	0.93
Z1177:Znrf3	UTSW	11	5286168	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCACAGTCTACATCCTCTGGAATAATG -3'
(R):5'- GACCATCATGTGCTTGCTGC -3'

Sequencing Primer
(F):5'- CTACATCCTCTGGAATAATGGGGATG -3'
(R):5'- CATCATGTGCTTGCTGCTTCGAG -3'

Posted On

2015-04-30