Mutagenetix > Incidental Mutation

Incidental Mutation 'R0788:Znrf3'

76358

Institutional Source

Beutler Lab

Gene Symbol

Znrf3

Ensembl Gene

ENSMUSG00000041961

Gene Name

zinc and ring finger 3

Synonyms

LOC382477

MMRRC Submission

038968-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0788 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5226329-5394847 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5231320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 731 (P731Q)

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

probably benign
Transcript: ENSMUST00000109867
AA Change: P731Q

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105493
Gene: ENSMUSG00000041961
AA Change: P731Q

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 benign
Transcript: ENSMUST00000172492
AA Change: P635Q

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000134698
Gene: ENSMUSG00000041961
AA Change: P635Q

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: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.0%

Validation Efficiency

98% (53/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,610,468 (GRCm39)	Y380*	probably null	Het
4931406B18Rik	C	A	7: 43,148,623 (GRCm39)	S196I	probably damaging	Het
Ablim2	T	C	5: 36,015,245 (GRCm39)	S519P	probably benign	Het
Adnp2	A	C	18: 80,173,219 (GRCm39)	C397G	probably benign	Het
Aldh1l2	A	G	10: 83,352,028 (GRCm39)	S156P	probably damaging	Het
Bcl2l15	G	T	3: 103,740,794 (GRCm39)		probably null	Het
Brd9	T	A	13: 74,092,986 (GRCm39)		probably benign	Het
Cars2	A	C	8: 11,579,672 (GRCm39)	I262R	possibly damaging	Het
Ccdc106	T	C	7: 5,060,533 (GRCm39)		probably benign	Het
Cdh3	G	A	8: 107,268,047 (GRCm39)	V361M	probably benign	Het
Cdhr1	A	C	14: 36,809,332 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,225,468 (GRCm39)	I559T	possibly damaging	Het
Cdkn2aip	T	A	8: 48,166,798 (GRCm39)	Q3L	possibly damaging	Het
Chd1	G	T	17: 15,927,376 (GRCm39)	V10F	possibly damaging	Het
Col4a4	G	A	1: 82,502,717 (GRCm39)	P356S	unknown	Het
Col6a4	T	C	9: 105,949,197 (GRCm39)	K813E	probably benign	Het
Cttnbp2	G	A	6: 18,423,834 (GRCm39)	T830I	probably damaging	Het
Cyp2t4	A	G	7: 26,854,588 (GRCm39)	M23V	probably null	Het
Cyp3a16	T	C	5: 145,401,886 (GRCm39)	K59E	probably benign	Het
Dpysl5	G	A	5: 30,946,185 (GRCm39)		probably null	Het
E130308A19Rik	T	A	4: 59,719,847 (GRCm39)	Y460N	possibly damaging	Het
Ear6	T	A	14: 52,091,487 (GRCm39)	C11*	probably null	Het
Fat1	C	T	8: 45,477,020 (GRCm39)	T1999M	probably benign	Het
Gsdmd	T	A	15: 75,736,103 (GRCm39)	C77*	probably null	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,880,425 (GRCm39)		probably benign	Het
Kif28	A	T	1: 179,532,788 (GRCm39)		probably benign	Het
Krt6b	A	G	15: 101,585,954 (GRCm39)	I373T	probably damaging	Het
Lgr5	T	C	10: 115,288,902 (GRCm39)	T509A	probably damaging	Het
Mapkbp1	C	T	2: 119,854,482 (GRCm39)	P1354S	probably benign	Het
Nat10	A	G	2: 103,573,460 (GRCm39)	S346P	probably damaging	Het
Ncoa2	T	C	1: 13,237,113 (GRCm39)		probably benign	Het
Necap1	C	T	6: 122,858,495 (GRCm39)	R113W	probably damaging	Het
Or1l4	T	A	2: 37,092,035 (GRCm39)	Y261N	possibly damaging	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Per1	G	A	11: 68,992,185 (GRCm39)		probably benign	Het
Polb	T	C	8: 23,132,354 (GRCm39)	D130G	probably null	Het
Ppcs	T	C	4: 119,279,375 (GRCm39)	N59S	probably damaging	Het
Ppp2ca	A	G	11: 52,003,969 (GRCm39)	E42G	possibly damaging	Het
Ptprf	T	C	4: 118,083,663 (GRCm39)	T807A	probably damaging	Het
Rapgef2	A	C	3: 79,006,502 (GRCm39)	F284V	possibly damaging	Het
Sestd1	A	T	2: 77,022,060 (GRCm39)	F544I	probably damaging	Het
Slfn3	G	A	11: 83,103,662 (GRCm39)	G178S	possibly damaging	Het
Supt6	G	A	11: 78,098,598 (GRCm39)		probably benign	Het
Tas2r109	T	A	6: 132,957,264 (GRCm39)	Q222L	probably benign	Het
Tekt4	A	C	17: 25,691,021 (GRCm39)	D109A	probably damaging	Het
Tob2	C	A	15: 81,735,903 (GRCm39)	R22L	probably damaging	Het
Ttn	T	G	2: 76,653,282 (GRCm39)	E178D	possibly damaging	Het
Ube2u	C	A	4: 100,371,937 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,332,812 (GRCm39)		probably benign	Het
Vstm2a	T	C	11: 16,209,968 (GRCm39)	F65L	probably damaging	Het
Zfp57	A	G	17: 37,317,092 (GRCm39)		probably benign	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
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
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'- CTCAGCTTGGTAACATGGAGCCTG -3'
(R):5'- CCTGGAGATGAACTACAGCAGCAAC -3'

Sequencing Primer
(F):5'- CAGTCTACATCCTCTGGAATAATGGG -3'
(R):5'- TCTACCTCAGAAGTGGGGC -3'

Posted On

2013-10-16