Mutagenetix > Incidental Mutation

Incidental Mutation 'R3754:Znrf1'

271355

Institutional Source

Beutler Lab

Gene Symbol

Znrf1

Ensembl Gene

ENSMUSG00000033545

Gene Name

zinc and ring finger 1

Synonyms

nin283, B830022L21Rik, Zrfp1, Rnf42

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R3754 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112262652-112352352 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112345843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 76 (V76M)

Ref Sequence

ENSEMBL: ENSMUSP00000134634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095176] [ENSMUST00000166859] [ENSMUST00000168428] [ENSMUST00000171182] [ENSMUST00000172856] [ENSMUST00000173506] [ENSMUST00000173781] [ENSMUST00000174333] [ENSMUST00000174454]

AlphaFold

Q91V17

Predicted Effect

probably damaging
Transcript: ENSMUST00000095176
AA Change: V176M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092799
Gene: ENSMUSG00000033545
AA Change: V176M

Domain	Start	End	E-Value	Type
RING	184	224	2.98e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000166859
AA Change: V76M

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

SMART Domains

Protein: ENSMUSP00000132939
Gene: ENSMUSG00000033545
AA Change: V76M

Domain	Start	End	E-Value	Type
RING	84	124	2.98e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168428
AA Change: V176M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126684
Gene: ENSMUSG00000033545
AA Change: V176M

Domain	Start	End	E-Value	Type
RING	184	224	2.98e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171182
AA Change: V144M

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127956
Gene: ENSMUSG00000033545
AA Change: V144M

Domain	Start	End	E-Value	Type
RING	152	192	2.98e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172856
AA Change: V176M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133309
Gene: ENSMUSG00000033545
AA Change: V176M

Domain	Start	End	E-Value	Type
RING	184	224	2.98e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000173506
AA Change: V176M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133993
Gene: ENSMUSG00000033545
AA Change: V176M

Domain	Start	End	E-Value	Type
RING	184	224	2.98e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000173726
AA Change: V36M

SMART Domains

Protein: ENSMUSP00000133472
Gene: ENSMUSG00000033545
AA Change: V36M

Domain	Start	End	E-Value	Type
RING	45	85	2.98e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000173819
AA Change: V33M

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173781
AA Change: V14M

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134232
Gene: ENSMUSG00000033545
AA Change: V14M

Domain	Start	End	E-Value	Type
RING	22	62	2.98e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000174333
AA Change: V76M

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

SMART Domains

Protein: ENSMUSP00000134634
Gene: ENSMUSG00000033545
AA Change: V76M

Domain	Start	End	E-Value	Type
RING	84	124	2.98e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000174454
AA Change: V14M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133519
Gene: ENSMUSG00000033545
AA Change: V14M

Domain	Start	End	E-Value	Type
RING	22	62	2.98e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173909

Predicted Effect

probably benign
Transcript: ENSMUST00000174376

Predicted Effect

probably benign
Transcript: ENSMUST00000173922

Coding Region Coverage

1x: 99.0%
3x: 98.4%
10x: 96.7%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap3	T	C	4: 135,956,766 (GRCm39)		probably null	Het
Atp12a	G	A	14: 56,610,045 (GRCm39)	V182I	probably benign	Het
Gad2	A	T	2: 22,571,352 (GRCm39)	D430V	possibly damaging	Het
Hr	A	G	14: 70,805,264 (GRCm39)	E1002G	probably damaging	Het
Itpkc	G	T	7: 26,927,857 (GRCm39)	P19Q	probably damaging	Het
Lrrc72	A	G	12: 36,262,567 (GRCm39)	S42P	probably benign	Het
Med1	A	G	11: 98,057,548 (GRCm39)	V318A	possibly damaging	Het
Myef2l	G	A	3: 10,153,575 (GRCm39)	V115I	possibly damaging	Het
Nek11	A	T	9: 105,191,917 (GRCm39)	N164K	probably damaging	Het
Neurod2	A	G	11: 98,218,526 (GRCm39)	S213P	probably damaging	Het
Nhsl1	A	G	10: 18,391,782 (GRCm39)	N179D	probably damaging	Het
Nr2f2	T	C	7: 70,007,769 (GRCm39)	I238V	probably benign	Het
Rpl37	C	A	15: 5,146,770 (GRCm39)	T2K	possibly damaging	Het
Slf2	A	G	19: 44,961,676 (GRCm39)	D1065G	probably benign	Het
Smim5	T	C	11: 115,796,549 (GRCm39)	C57R	probably damaging	Het
Soat2	T	A	15: 102,065,513 (GRCm39)	V236D	probably damaging	Het
Teddm3	C	T	16: 20,971,898 (GRCm39)	D224N	possibly damaging	Het
Tm2d2	G	A	8: 25,510,494 (GRCm39)	V118I	probably damaging	Het
Ttc22	C	A	4: 106,496,278 (GRCm39)	R443S	probably damaging	Het
Upf1	A	G	8: 70,792,464 (GRCm39)	I368T	probably benign	Het
Xrn1	G	T	9: 95,849,841 (GRCm39)	D129Y	probably damaging	Het
Zfp109	A	G	7: 23,929,181 (GRCm39)	M76T	probably benign	Het

Other mutations in Znrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1029:Znrf1	UTSW	8	112,263,986 (GRCm39)	missense	probably damaging	0.99
R1911:Znrf1	UTSW	8	112,348,244 (GRCm39)	missense	possibly damaging	0.92
R1911:Znrf1	UTSW	8	112,348,233 (GRCm39)	makesense	probably null
R4867:Znrf1	UTSW	8	112,264,198 (GRCm39)	critical splice donor site	probably null
R5090:Znrf1	UTSW	8	112,265,035 (GRCm39)	missense	probably benign	0.00
R5267:Znrf1	UTSW	8	112,263,899 (GRCm39)	missense	probably benign	0.00
R5271:Znrf1	UTSW	8	112,335,976 (GRCm39)	missense	probably benign	0.23
R5396:Znrf1	UTSW	8	112,345,826 (GRCm39)	splice site	probably null
R7084:Znrf1	UTSW	8	112,263,774 (GRCm39)	start codon destroyed	probably null	0.53
R7493:Znrf1	UTSW	8	112,264,071 (GRCm39)	missense	probably damaging	1.00
R8507:Znrf1	UTSW	8	112,263,842 (GRCm39)	missense	probably damaging	0.99
R8926:Znrf1	UTSW	8	112,264,143 (GRCm39)	missense	probably damaging	0.99
R9445:Znrf1	UTSW	8	112,335,954 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCAAAGCCTCTCTTGAACAGTC -3'
(R):5'- ACCCAAGAGGACTGGATGAC -3'

Sequencing Primer
(F):5'- GCTTCTAAGTCAGTCAGAAGGCTC -3'
(R):5'- ATGACTGGTGAAGGGGATCTATTC -3'

Posted On

2015-03-18