Mutagenetix > Incidental Mutation

Incidental Mutation 'R9468:Znrf3'

715291

Institutional Source

Beutler Lab

Gene Symbol

Znrf3

Ensembl Gene

ENSMUSG00000041961

Gene Name

zinc and ring finger 3

Synonyms

LOC382477

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9468 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5226329-5394847 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5288696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 24 (V24A)

Ref Sequence

ENSEMBL: ENSMUSP00000134698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109867] [ENSMUST00000143746] [ENSMUST00000172492]

AlphaFold

Q5SSZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000109867
AA Change: V120A

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105493
Gene: ENSMUSG00000041961
AA Change: V120A

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: ENSMUST00000143746
AA Change: V120A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122475
Gene: ENSMUSG00000041961
AA Change: V120A

Domain	Start	End	E-Value	Type
signal peptide	1	52	N/A	INTRINSIC
PDB:4CDK\|D	53	205	1e-111	PDB
low complexity region	209	225	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172492
AA Change: V24A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134698
Gene: ENSMUSG00000041961
AA Change: V24A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	A	1: 161,784,736 (GRCm39)	N68Y	probably damaging	Het
Acsf3	A	T	8: 123,539,769 (GRCm39)	I466F	probably damaging	Het
Akr1b7	T	C	6: 34,392,316 (GRCm39)	I43T	probably benign	Het
Alyref	T	A	11: 120,486,790 (GRCm39)	D157V	probably damaging	Het
Anapc2	T	C	2: 25,163,132 (GRCm39)	L123P	possibly damaging	Het
Catsperg2	A	T	7: 29,409,432 (GRCm39)		probably null	Het
Ccz1	G	T	5: 143,929,438 (GRCm39)	T330K	probably benign	Het
Chordc1	T	A	9: 18,213,425 (GRCm39)	F92Y	probably benign	Het
Cyp2c29	A	T	19: 39,296,166 (GRCm39)	D199V	probably benign	Het
Cyp2c70	A	G	19: 40,168,889 (GRCm39)	S133P	probably damaging	Het
Dync1li2	G	A	8: 105,147,258 (GRCm39)	P479S	probably benign	Het
Fcmr	G	T	1: 130,801,951 (GRCm39)	K68N	possibly damaging	Het
Frmpd2	T	A	14: 33,266,432 (GRCm39)	D949E	possibly damaging	Het
Fscn2	A	G	11: 120,253,283 (GRCm39)	E250G	probably damaging	Het
Grk2	A	T	19: 4,344,952 (GRCm39)	I39N	probably damaging	Het
Hmmr	T	A	11: 40,614,314 (GRCm39)	R125*	probably null	Het
Jarid2	T	A	13: 45,073,306 (GRCm39)	C1195S	probably damaging	Het
Kcnq4	A	T	4: 120,568,494 (GRCm39)	D407E	probably benign	Het
Kif24	A	T	4: 41,404,794 (GRCm39)	I402N	probably damaging	Het
Kmt2b	A	G	7: 30,284,513 (GRCm39)	V793A	probably damaging	Het
Kntc1	T	C	5: 123,954,776 (GRCm39)	Y2065H	probably damaging	Het
Krt5	C	A	15: 101,615,980 (GRCm39)	S545I	unknown	Het
Larp1b	A	T	3: 40,930,990 (GRCm39)	I290L	probably benign	Het
Lnx2	C	T	5: 146,979,289 (GRCm39)		probably benign	Het
Lonrf2	A	G	1: 38,839,839 (GRCm39)	S419P	probably damaging	Het
Lrrc19	A	T	4: 94,526,521 (GRCm39)	D345E	probably benign	Het
Micu3	T	A	8: 40,807,422 (GRCm39)	L251*	probably null	Het
Mucl1	G	T	15: 103,784,035 (GRCm39)	T57N	possibly damaging	Het
Myh8	C	T	11: 67,197,730 (GRCm39)	R1866W	probably damaging	Het
Ndc80	G	A	17: 71,806,306 (GRCm39)	Q583*	probably null	Het
Nrap	G	A	19: 56,330,632 (GRCm39)	T1143I	possibly damaging	Het
Nrde2	A	G	12: 100,106,268 (GRCm39)	V523A	probably benign	Het
Or12e9	T	A	2: 87,202,116 (GRCm39)	V80E	probably damaging	Het
Or2at4	A	T	7: 99,385,180 (GRCm39)	I277F	possibly damaging	Het
Or4c11	C	T	2: 88,695,795 (GRCm39)	P282L	possibly damaging	Het
Or5p70	C	T	7: 107,994,849 (GRCm39)	P174L	possibly damaging	Het
Pcdhb16	T	A	18: 37,611,482 (GRCm39)	S147R	probably damaging	Het
Phf21b	T	C	15: 84,689,299 (GRCm39)	T76A	probably damaging	Het
Pknox2	A	G	9: 36,822,495 (GRCm39)	V218A	probably benign	Het
Plekhg3	C	T	12: 76,607,009 (GRCm39)	T23I	probably damaging	Het
Ptprb	A	G	10: 116,113,274 (GRCm39)	T85A	probably benign	Het
Ptprc	A	G	1: 138,044,754 (GRCm39)	L36P	probably benign	Het
Rasgrf1	A	G	9: 89,880,756 (GRCm39)	Q834R	probably benign	Het
Rnft1	G	A	11: 86,381,242 (GRCm39)	V211I	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,772,510 (GRCm39)	L2468F	probably damaging	Het
Scaf4	C	T	16: 90,026,287 (GRCm39)	A1177T	unknown	Het
Sec14l3	A	G	11: 4,025,200 (GRCm39)	Y270C	probably damaging	Het
Serpind1	A	T	16: 17,154,179 (GRCm39)	K2I	possibly damaging	Het
Slc6a20b	A	G	9: 123,439,416 (GRCm39)	S138P	probably damaging	Het
Son	T	A	16: 91,454,439 (GRCm39)	M1062K	possibly damaging	Het
Sorl1	T	C	9: 42,035,384 (GRCm39)	E9G	probably benign	Het
Spmip9	T	C	6: 70,890,627 (GRCm39)	Q55R	probably benign	Het
Stx16	T	C	2: 173,933,327 (GRCm39)	L102P	probably damaging	Het
Syt12	A	T	19: 4,497,744 (GRCm39)	S413T	probably damaging	Het
Tie1	A	G	4: 118,333,376 (GRCm39)	L830P	probably damaging	Het
Tmem156	C	T	5: 65,237,531 (GRCm39)	R43K	probably damaging	Het
Tnfrsf19	A	G	14: 61,261,623 (GRCm39)	S59P	possibly damaging	Het
Tpk1	T	C	6: 43,536,901 (GRCm39)	D54G	probably benign	Het
Trim39	G	T	17: 36,571,492 (GRCm39)	T422K	probably benign	Het
Ttn	T	G	2: 76,536,112 (GRCm39)	E35082A		Het
Vac14	T	A	8: 111,397,738 (GRCm39)	D484E	probably benign	Het
Vmn1r158	G	T	7: 22,489,888 (GRCm39)	T107N	probably damaging	Het
Vmn1r51	T	A	6: 90,106,930 (GRCm39)	I282N	probably damaging	Het
Vps26a	A	T	10: 62,300,516 (GRCm39)	Y217N	probably damaging	Het
Zfp942	G	A	17: 22,148,422 (GRCm39)	T69I	probably benign	Het
Zmym4	A	G	4: 126,800,993 (GRCm39)	S536P	probably benign	Het
Zranb3	A	G	1: 127,891,496 (GRCm39)		probably null	Het
Zzef1	T	C	11: 72,814,009 (GRCm39)		probably null	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
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
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'- GCACATGCGTTCTATGGTGC -3'
(R):5'- AAACCTGTTCCCTGCCATAAAG -3'

Sequencing Primer
(F):5'- CAGCTTCAGAAGGAGTACTATGCC -3'
(R):5'- CTGTTCCCTGCCATAAAGTTTGAAG -3'

Posted On

2022-06-15