Mutagenetix > Incidental Mutation

Incidental Mutation 'R5218:Znrf3'

403608

Institutional Source

Beutler Lab

Gene Symbol

Znrf3

Ensembl Gene

ENSMUSG00000041961

Gene Name

zinc and ring finger 3

Synonyms

LOC382477

MMRRC Submission

042791-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5218 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5226329-5394847 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5231519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 665 (V665M)

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: V665M

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105493
Gene: ENSMUSG00000041961
AA Change: V665M

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: V569M

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134698
Gene: ENSMUSG00000041961
AA Change: V569M

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

0.0830

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (60/60)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,629,628 (GRCm39)	N230K	possibly damaging	Het
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
Albfm1	A	G	5: 90,729,777 (GRCm39)	K400R	probably benign	Het
Amigo1	A	G	3: 108,095,086 (GRCm39)		probably null	Het
Arhgap30	A	T	1: 171,236,328 (GRCm39)	T901S	probably benign	Het
Arpp21	T	C	9: 111,972,499 (GRCm39)	D264G	probably damaging	Het
Ccbe1	C	T	18: 66,216,229 (GRCm39)	G165S	probably damaging	Het
Celsr1	T	C	15: 85,816,585 (GRCm39)	D1786G	probably damaging	Het
Cntn1	T	C	15: 92,237,430 (GRCm39)	L1008P	unknown	Het
Dclk2	T	A	3: 86,712,985 (GRCm39)	D489V	probably damaging	Het
Dip2b	T	A	15: 100,052,177 (GRCm39)	D259E	probably benign	Het
Disp3	T	C	4: 148,327,333 (GRCm39)	S1184G	possibly damaging	Het
Dync1li2	C	T	8: 105,169,179 (GRCm39)	W36*	probably null	Het
Ece2	A	T	16: 20,437,290 (GRCm39)	M211L	probably benign	Het
Edn3	C	T	2: 174,603,345 (GRCm39)	A31V	probably benign	Het
Enpp2	T	C	15: 54,750,982 (GRCm39)	Q266R	possibly damaging	Het
Fabp1	C	A	6: 71,176,944 (GRCm39)	Q12K	probably damaging	Het
Flt1	G	A	5: 147,618,738 (GRCm39)	T199M	probably damaging	Het
Galns	T	A	8: 123,325,328 (GRCm39)	I275F	probably damaging	Het
Gapvd1	T	C	2: 34,618,488 (GRCm39)	D295G	probably benign	Het
Gatb	A	G	3: 85,511,751 (GRCm39)	I169V	probably benign	Het
Gpd1	T	A	15: 99,618,011 (GRCm39)	I109N	probably damaging	Het
Gps2	T	C	11: 69,807,121 (GRCm39)		probably null	Het
Hsd17b12	T	C	2: 93,913,608 (GRCm39)	N99D	probably benign	Het
Itga3	A	T	11: 94,953,574 (GRCm39)	V256E	probably benign	Het
Kcnma1	T	A	14: 23,513,253 (GRCm39)	Y527F	probably damaging	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lrp1	C	A	10: 127,384,488 (GRCm39)	E3580D	probably damaging	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,026,736 (GRCm39)		probably benign	Het
Medag	A	T	5: 149,345,719 (GRCm39)		probably benign	Het
Ncdn	C	A	4: 126,644,603 (GRCm39)	R73L	probably benign	Het
Nr4a1	T	C	15: 101,170,034 (GRCm39)	V339A	probably benign	Het
Ocln	G	T	13: 100,642,822 (GRCm39)	P420Q	probably damaging	Het
Or5ac24	A	T	16: 59,165,270 (GRCm39)	S265T	probably benign	Het
Pank4	C	T	4: 155,064,185 (GRCm39)	T681I	probably benign	Het
Pcdhb6	T	A	18: 37,467,388 (GRCm39)	V103E	possibly damaging	Het
Pcsk6	T	C	7: 65,675,036 (GRCm39)	F469S	probably benign	Het
Phrf1	A	G	7: 140,841,214 (GRCm39)	N1353S	possibly damaging	Het
Pou6f2	A	G	13: 18,326,586 (GRCm39)	I72T	probably damaging	Het
Ppig	T	C	2: 69,563,127 (GRCm39)		probably benign	Het
Ptprh	T	C	7: 4,600,919 (GRCm39)	S153G	probably benign	Het
Rab11b	T	C	17: 33,967,924 (GRCm39)	N91S	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Slc2a9	A	G	5: 38,610,524 (GRCm39)	S92P	probably damaging	Het
Slit3	G	A	11: 35,575,002 (GRCm39)		probably null	Het
Sox5	T	C	6: 143,906,616 (GRCm39)	I280V	possibly damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tdrd9	C	T	12: 112,029,909 (GRCm39)		probably benign	Het
Tmem273	T	A	14: 32,538,793 (GRCm39)		probably null	Het
Tmem74	A	T	15: 43,730,640 (GRCm39)	N134K	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl1	T	G	18: 63,812,538 (GRCm39)	K85N	probably benign	Het
Vmn2r77	T	A	7: 86,451,341 (GRCm39)	M409K	probably damaging	Het
Wipf1	T	C	2: 73,274,812 (GRCm39)	D53G	probably damaging	Het
Wnt10a	G	A	1: 74,832,754 (GRCm39)	V116I	probably benign	Het
Xpot	T	A	10: 121,455,043 (GRCm39)	D33V	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
R1586:Znrf3	UTSW	11	5,231,477 (GRCm39)	missense	probably damaging	1.00
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
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'- TGAAGACCATACAGGCCCTG -3'
(R):5'- AGCGACTATGACCCCTTCATCTAC -3'

Sequencing Primer
(F):5'- CACTTGGAGGGTTGCAGTCC -3'
(R):5'- TGTGCACCTTGAGGGCTC -3'

Posted On

2016-07-22