Mutagenetix > Incidental Mutation

Incidental Mutation 'R5271:Znrf1'

400312

Institutional Source

Beutler Lab

Gene Symbol

Znrf1

Ensembl Gene

ENSMUSG00000033545

Gene Name

zinc and ring finger 1

Synonyms

nin283, B830022L21Rik, Zrfp1, Rnf42

MMRRC Submission

042861-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R5271 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112262652-112352352 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 112335976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 159 (M159R)

Ref Sequence

ENSEMBL: ENSMUSP00000133993 (fasta)

Gene Model

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

AlphaFold

Q91V17

Predicted Effect

probably benign
Transcript: ENSMUST00000095176
AA Change: M159R

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000092799
Gene: ENSMUSG00000033545
AA Change: M159R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166859
AA Change: M59R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000132939
Gene: ENSMUSG00000033545
AA Change: M59R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168428
AA Change: M159R

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126684
Gene: ENSMUSG00000033545
AA Change: M159R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171182

SMART Domains

Protein: ENSMUSP00000127956
Gene: ENSMUSG00000033545

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172856
AA Change: M159R

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133309
Gene: ENSMUSG00000033545
AA Change: M159R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173481

Predicted Effect

probably benign
Transcript: ENSMUST00000173506
AA Change: M159R

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133993
Gene: ENSMUSG00000033545
AA Change: M159R

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

Predicted Effect

unknown
Transcript: ENSMUST00000173819
AA Change: M16R

Predicted Effect

probably benign
Transcript: ENSMUST00000174333
AA Change: M59R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000134634
Gene: ENSMUSG00000033545
AA Change: M59R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173692

Predicted Effect

probably benign
Transcript: ENSMUST00000173922

Predicted Effect

probably benign
Transcript: ENSMUST00000174454

SMART Domains

Protein: ENSMUSP00000133519
Gene: ENSMUSG00000033545

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173726

SMART Domains

Protein: ENSMUSP00000133472
Gene: ENSMUSG00000033545

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174376

Predicted Effect

probably benign
Transcript: ENSMUST00000173781

SMART Domains

Protein: ENSMUSP00000134232
Gene: ENSMUSG00000033545

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

Meta Mutation Damage Score

0.1389

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (65/67)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,373,496 (GRCm39)	K33R	possibly damaging	Het
4632415L05Rik	C	T	3: 19,949,311 (GRCm39)		noncoding transcript	Het
4930542C16Rik	A	C	14: 24,665,598 (GRCm39)		noncoding transcript	Het
Adprh	A	T	16: 38,266,416 (GRCm39)	L242*	probably null	Het
Anapc1	G	A	2: 128,527,905 (GRCm39)	Q18*	probably null	Het
Bfar	T	C	16: 13,510,261 (GRCm39)		probably benign	Het
Bmp1	T	C	14: 70,745,568 (GRCm39)	I206V	probably benign	Het
Cc2d1b	T	A	4: 108,480,826 (GRCm39)		probably benign	Het
Clock	A	G	5: 76,389,801 (GRCm39)	I349T	probably damaging	Het
Cox11	A	G	11: 90,534,558 (GRCm39)	Y60C	probably damaging	Het
Cyp1a1	G	A	9: 57,610,121 (GRCm39)	V512M	probably benign	Het
Dcdc2a	T	C	13: 25,371,671 (GRCm39)	F311S	probably benign	Het
Dnase1l3	T	C	14: 7,993,843 (GRCm38)	D48G	probably damaging	Het
Engase	G	T	11: 118,372,223 (GRCm39)	A172S	probably damaging	Het
F2	T	C	2: 91,465,466 (GRCm39)		probably benign	Het
Galnt2l	A	G	8: 122,997,872 (GRCm39)		probably benign	Het
Gcc2	T	C	10: 58,105,517 (GRCm39)	V215A	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm20671	T	C	5: 32,977,303 (GRCm39)	K1817R	possibly damaging	Het
Gm20939	T	A	17: 95,184,583 (GRCm39)	Y410*	probably null	Het
Gm27013	T	C	6: 130,653,878 (GRCm39)	Y528C	probably damaging	Het
Il23r	T	C	6: 67,400,680 (GRCm39)	H550R	probably benign	Het
Iqgap1	A	T	7: 80,383,896 (GRCm39)	V1056E	probably damaging	Het
Lrit3	T	A	3: 129,581,950 (GRCm39)	Y679F	probably damaging	Het
Megf8	A	T	7: 25,041,131 (GRCm39)	E1120V	probably damaging	Het
Mta1	A	G	12: 113,095,577 (GRCm39)	E518G	probably damaging	Het
Myo9a	A	G	9: 59,814,665 (GRCm39)	I2200M	probably damaging	Het
Ncoa7	T	C	10: 30,598,725 (GRCm39)	H66R	probably benign	Het
Ncor1	A	G	11: 62,231,371 (GRCm39)	V812A	probably damaging	Het
Ndnf	T	C	6: 65,680,650 (GRCm39)	Y310H	possibly damaging	Het
Ndst1	G	A	18: 60,838,204 (GRCm39)	T347I	probably benign	Het
Or10a3m	T	C	7: 108,313,424 (GRCm39)	L276S	probably damaging	Het
Or4c15b	A	T	2: 89,113,297 (GRCm39)	F60Y	probably benign	Het
Pcdhb10	C	A	18: 37,546,222 (GRCm39)	Q433K	probably benign	Het
Pcdhb18	G	A	18: 37,624,649 (GRCm39)	V660M	possibly damaging	Het
Pds5b	T	A	5: 150,646,818 (GRCm39)	N202K	possibly damaging	Het
Pira12	A	T	7: 3,900,566 (GRCm39)	Y61*	probably null	Het
Polk	T	C	13: 96,620,047 (GRCm39)	S718G	probably benign	Het
Ptpdc1	T	C	13: 48,744,174 (GRCm39)	D149G	probably damaging	Het
Rb1cc1	T	A	1: 6,319,417 (GRCm39)	C35*	probably null	Het
Samd9l	C	T	6: 3,376,156 (GRCm39)	M368I	probably benign	Het
Shroom3	T	C	5: 93,110,107 (GRCm39)	M1739T	probably damaging	Het
Slc18a3	A	G	14: 32,185,705 (GRCm39)	L226P	probably damaging	Het
St7l	A	T	3: 104,775,376 (GRCm39)	Y84F	probably damaging	Het
Svil	A	T	18: 5,062,329 (GRCm39)	N392I	probably benign	Het
Syngr1	T	A	15: 79,982,240 (GRCm39)	M9K	probably benign	Het
Taar2	T	C	10: 23,816,930 (GRCm39)	S157P	probably damaging	Het
Tagap1	G	T	17: 7,223,495 (GRCm39)	Y400*	probably null	Het
Tbc1d8	T	A	1: 39,412,848 (GRCm39)	E976V	probably damaging	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Tnfaip2	A	G	12: 111,414,894 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,536,861 (GRCm39)	S34988N	possibly damaging	Het
Tubg1	T	G	11: 101,011,064 (GRCm39)	N15K	probably damaging	Het
Unc93a2	T	C	17: 7,637,081 (GRCm39)	N149S	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Zap70	T	A	1: 36,820,446 (GRCm39)	V547D	probably damaging	Het
Zfp146	G	T	7: 29,861,900 (GRCm39)	N47K	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
R3754:Znrf1	UTSW	8	112,345,843 (GRCm39)	missense	probably damaging	1.00
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
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'- CCTCTTGAAAGATGACAGCTGTGG -3'
(R):5'- GGTTCCTCACATGCACATGC -3'

Sequencing Primer
(F):5'- GAAGGACAGATTGATCTCTGCTC -3'
(R):5'- CATGCACAGTGCTGCTAAAAG -3'

Posted On

2016-07-06