Mutagenetix > Incidental Mutation

Incidental Mutation 'R4958:Znrf4'

381730

Institutional Source

Beutler Lab

Gene Symbol

Znrf4

Ensembl Gene

ENSMUSG00000044526

Gene Name

zinc and ring finger 4

Synonyms

spzn

MMRRC Submission

042555-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4958 (G1)

Quality Score

112

Status

Not validated

Chromosome

Chromosomal Location

56818248-56819431 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56818701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 202 (F202S)

Ref Sequence

ENSEMBL: ENSMUSP00000059715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052211]

AlphaFold

Q9DAH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000052211
AA Change: F202S

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

SMART Domains

Protein: ENSMUSP00000059715
Gene: ENSMUSG00000044526
AA Change: F202S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	94	107	N/A	INTRINSIC
low complexity region	151	166	N/A	INTRINSIC
RING	209	251	2.12e-8	SMART
low complexity region	286	298	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd7	A	G	6: 18,866,722 (GRCm39)	S81G	probably benign	Het
Arel1	T	C	12: 84,973,078 (GRCm39)	K573R	possibly damaging	Het
Atf7ip	C	T	6: 136,583,808 (GRCm39)	R1280C	probably damaging	Het
Atp1a4	T	A	1: 172,058,718 (GRCm39)	D909V	probably damaging	Het
Cdh2	T	G	18: 16,760,622 (GRCm39)		probably null	Het
Col6a1	A	T	10: 76,559,339 (GRCm39)	I99N	probably damaging	Het
Dennd4c	A	G	4: 86,699,916 (GRCm39)	T256A	probably damaging	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ereg	T	C	5: 91,237,970 (GRCm39)	V152A	probably damaging	Het
Gm4950	T	C	18: 51,998,641 (GRCm39)	T105A	probably benign	Het
Hsf2	T	C	10: 57,377,467 (GRCm39)	I121T	probably damaging	Het
Kmt2a	A	T	9: 44,759,764 (GRCm39)	L728Q	probably damaging	Het
Llgl1	G	T	11: 60,602,261 (GRCm39)	R768L	probably benign	Het
Lyst	A	G	13: 13,810,048 (GRCm39)	I573V	probably benign	Het
Macf1	G	T	4: 123,369,157 (GRCm39)	T303K	probably damaging	Het
Map3k5	A	T	10: 19,899,535 (GRCm39)	Q264L	possibly damaging	Het
Mboat1	T	C	13: 30,408,376 (GRCm39)	S180P	probably damaging	Het
Mfsd6	T	C	1: 52,700,183 (GRCm39)	D655G	probably damaging	Het
Myh2	A	G	11: 67,083,785 (GRCm39)	E1521G	possibly damaging	Het
Nsd2	T	A	5: 34,049,366 (GRCm39)	S1200R	probably damaging	Het
Or51k2	T	C	7: 103,595,808 (GRCm39)	F12L	probably damaging	Het
Or52n2b	T	C	7: 104,565,668 (GRCm39)	I278M	probably damaging	Het
Or6z3	G	A	7: 6,464,057 (GRCm39)	C183Y	probably damaging	Het
Or8h9	T	C	2: 86,789,449 (GRCm39)	M118V	possibly damaging	Het
Pbrm1	T	C	14: 30,796,784 (GRCm39)	I875T	probably damaging	Het
Pla2g1b	T	A	5: 115,608,885 (GRCm39)	F26I	probably damaging	Het
Plscr4	A	G	9: 92,366,814 (GRCm39)	N143D	possibly damaging	Het
Rab11fip1	G	T	8: 27,644,841 (GRCm39)	R315S	probably damaging	Het
Rptor	G	A	11: 119,748,217 (GRCm39)	R727Q	probably benign	Het
Serac1	A	T	17: 6,119,657 (GRCm39)	V91D	probably benign	Het
Slco1a6	C	A	6: 142,091,431 (GRCm39)	G90C	probably damaging	Het
Sulf1	A	G	1: 12,867,134 (GRCm39)	Y106C	probably benign	Het
Syt13	G	A	2: 92,783,794 (GRCm39)	V355M	probably damaging	Het
Tjp1	G	A	7: 64,985,850 (GRCm39)	R314*	probably null	Het
Tshr	A	G	12: 91,504,961 (GRCm39)	D633G	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Zswim8	T	A	14: 20,763,533 (GRCm39)	W427R	probably damaging	Het

Other mutations in Znrf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02576:Znrf4	APN	17	56,819,199 (GRCm39)	missense	probably damaging	1.00
R1794:Znrf4	UTSW	17	56,818,599 (GRCm39)	missense	probably damaging	1.00
R4760:Znrf4	UTSW	17	56,818,864 (GRCm39)	missense	possibly damaging	0.73
R6374:Znrf4	UTSW	17	56,818,702 (GRCm39)	missense	probably damaging	1.00
R7146:Znrf4	UTSW	17	56,819,305 (GRCm39)	start codon destroyed	probably benign	0.02
R7353:Znrf4	UTSW	17	56,819,169 (GRCm39)	missense	probably benign	0.04
R7772:Znrf4	UTSW	17	56,819,247 (GRCm39)	missense	possibly damaging	0.88
R7898:Znrf4	UTSW	17	56,818,681 (GRCm39)	missense	probably damaging	1.00
R9420:Znrf4	UTSW	17	56,819,218 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGCTGGCCACTGACTGTTTG -3'
(R):5'- AGCTCTGTGGACTTCTTGGAC -3'

Sequencing Primer
(F):5'- TTTGCACAGGGGGCATGAAC -3'
(R):5'- ACTTGGAGGTGACCGTACG -3'

Posted On

2016-04-27