Mutagenetix > Incidental Mutation

Incidental Mutation 'R7499:Vgf'

581369

Institutional Source

Beutler Lab

Gene Symbol

Vgf

Ensembl Gene

ENSMUSG00000037428

Gene Name

VGF nerve growth factor inducible

Synonyms

LOC381677

MMRRC Submission

045572-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7499 (G1)

Quality Score

166.009

Status

Not validated

Chromosome

Chromosomal Location

137055246-137062205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 137061099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 420 (D420E)

Ref Sequence

ENSEMBL: ENSMUSP00000048273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041543] [ENSMUST00000111080] [ENSMUST00000186451] [ENSMUST00000187382] [ENSMUST00000190827]

AlphaFold

Q0VGU4

Predicted Effect

probably damaging
Transcript: ENSMUST00000041543
AA Change: D420E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048273
Gene: ENSMUSG00000037428
AA Change: D420E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	110	115	N/A	INTRINSIC
low complexity region	147	169	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC
low complexity region	218	231	N/A	INTRINSIC
coiled coil region	307	412	N/A	INTRINSIC
low complexity region	434	450	N/A	INTRINSIC
low complexity region	478	488	N/A	INTRINSIC
low complexity region	490	504	N/A	INTRINSIC
low complexity region	510	518	N/A	INTRINSIC
coiled coil region	576	613	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111080

SMART Domains

Protein: ENSMUSP00000106709
Gene: ENSMUSG00000004849

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	142	5.6e-64	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186451
AA Change: D420E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140735
Gene: ENSMUSG00000037428
AA Change: D420E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	110	115	N/A	INTRINSIC
low complexity region	147	169	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC
low complexity region	218	231	N/A	INTRINSIC
coiled coil region	307	412	N/A	INTRINSIC
low complexity region	434	450	N/A	INTRINSIC
low complexity region	478	488	N/A	INTRINSIC
low complexity region	490	504	N/A	INTRINSIC
low complexity region	510	518	N/A	INTRINSIC
coiled coil region	576	613	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187382

SMART Domains

Protein: ENSMUSP00000140093
Gene: ENSMUSG00000037428

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	110	115	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000190827
AA Change: D420E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140815
Gene: ENSMUSG00000037428
AA Change: D420E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	110	115	N/A	INTRINSIC
low complexity region	147	169	N/A	INTRINSIC
low complexity region	179	197	N/A	INTRINSIC
low complexity region	218	231	N/A	INTRINSIC
coiled coil region	307	412	N/A	INTRINSIC
low complexity region	434	450	N/A	INTRINSIC
low complexity region	478	488	N/A	INTRINSIC
low complexity region	490	504	N/A	INTRINSIC
low complexity region	510	518	N/A	INTRINSIC
coiled coil region	576	613	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is specifically expressed in a subpopulation of neuroendocrine cells, and is upregulated by nerve growth factor. The structural organization of this gene is similar to that of the rat gene, and both the translated and the untranslated regions show a high degree of sequence similarity to the rat gene. The encoded secretory protein also shares similarities with the secretogranin/chromogranin family, however, its exact function is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are small, lean, hyperactive, hypermetabolic, and infertile. Mutants exhibit markedly reduced leptin levels and altered hypothalamic proopiomelanocortin, neuropeptide Y, and agouti-related peptide expression. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,907,186 (GRCm39)	D180V	possibly damaging	Het
Abat	T	C	16: 8,421,618 (GRCm39)		probably null	Het
Ankfn1	G	A	11: 89,282,576 (GRCm39)	T357I	probably benign	Het
Armc3	C	T	2: 19,290,790 (GRCm39)	T423I	probably benign	Het
Asb6	T	C	2: 30,714,472 (GRCm39)	T213A	possibly damaging	Het
Atp11a	T	C	8: 12,882,575 (GRCm39)	C488R	probably benign	Het
Bag6	G	A	17: 35,363,368 (GRCm39)	R736H	probably benign	Het
Bche	G	A	3: 73,609,231 (GRCm39)	P65L	probably damaging	Het
Cela3a	T	A	4: 137,132,950 (GRCm39)	I101F	probably damaging	Het
Cep170	A	T	1: 176,602,028 (GRCm39)	D359E	probably damaging	Het
Chfr	T	C	5: 110,299,549 (GRCm39)	V314A	probably benign	Het
Clpb	T	C	7: 101,371,935 (GRCm39)	F224L	possibly damaging	Het
Coro2a	T	C	4: 46,539,188 (GRCm39)	K527R	probably benign	Het
Cpa5	A	G	6: 30,630,856 (GRCm39)	T373A	possibly damaging	Het
Ctsd	A	T	7: 141,937,149 (GRCm39)		probably null	Het
Dlx5	G	A	6: 6,878,340 (GRCm39)	S230F	possibly damaging	Het
Dlx5	A	C	6: 6,878,341 (GRCm39)	S230A	probably benign	Het
Dmc1	G	T	15: 79,486,621 (GRCm39)	S11*	probably null	Het
Dnah1	G	A	14: 31,037,079 (GRCm39)	Q256*	probably null	Het
Dnah3	A	G	7: 119,660,135 (GRCm39)	F846L	probably damaging	Het
Dnah5	A	T	15: 28,302,596 (GRCm39)	I1618F	probably damaging	Het
Emsy	A	G	7: 98,279,538 (GRCm39)	V267A	possibly damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,892,766 (GRCm39)		probably null	Het
Frem1	T	C	4: 82,924,007 (GRCm39)	I317M	probably damaging	Het
G6pc1	C	A	11: 101,267,520 (GRCm39)	Y323*	probably null	Het
Gm5114	A	G	7: 39,058,489 (GRCm39)	C377R	possibly damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Hmbox1	A	G	14: 65,134,126 (GRCm39)	V158A	possibly damaging	Het
Hmg20a	A	G	9: 56,396,227 (GRCm39)	R340G	unknown	Het
Ifi206	T	A	1: 173,309,607 (GRCm39)	I130F		Het
Ifnb1	T	C	4: 88,440,911 (GRCm39)	N34S	probably benign	Het
Il16	T	C	7: 83,323,702 (GRCm39)	K283E	probably damaging	Het
Maf	T	C	8: 116,419,920 (GRCm39)	D374G	probably benign	Het
Mettl14	A	G	3: 123,168,503 (GRCm39)	I179T	probably benign	Het
Mpped1	G	A	15: 83,684,251 (GRCm39)	R91H	probably damaging	Het
Nop2	C	A	6: 125,121,171 (GRCm39)	P651Q	possibly damaging	Het
Or5p62	A	G	7: 107,771,007 (GRCm39)	*315Q	probably null	Het
Phkg1	G	A	5: 129,902,109 (GRCm39)	Q89*	probably null	Het
Phykpl	T	A	11: 51,482,285 (GRCm39)	V133E	probably damaging	Het
Polr3gl	A	T	3: 96,487,137 (GRCm39)	Y183N	probably benign	Het
Rab13	A	G	3: 90,132,840 (GRCm39)	T187A	probably benign	Het
Ripor2	A	G	13: 24,877,755 (GRCm39)	M252V	probably damaging	Het
Sec61a2	T	C	2: 5,882,725 (GRCm39)	N186S	probably benign	Het
Serpinb5	T	C	1: 106,800,119 (GRCm39)		probably null	Het
Serpine3	G	A	14: 62,902,476 (GRCm39)	W29*	probably null	Het
Sh2b3	T	C	5: 121,956,536 (GRCm39)	R382G	probably damaging	Het
Slc66a1	T	A	4: 139,033,823 (GRCm39)	D32V	probably damaging	Het
Slc7a5	A	G	8: 122,610,461 (GRCm39)	L451P	probably damaging	Het
Slco1a5	T	C	6: 142,208,257 (GRCm39)		probably null	Het
Tep1	G	A	14: 51,091,047 (GRCm39)	A695V	probably damaging	Het
Tnik	T	C	3: 28,684,743 (GRCm39)	V857A	possibly damaging	Het
Trdn	A	T	10: 33,072,097 (GRCm39)	M255L	probably benign	Het
Tsc22d4	G	A	5: 137,745,985 (GRCm39)	S203N	probably benign	Het
Tsfm	T	C	10: 126,858,417 (GRCm39)	E316G	possibly damaging	Het
Tvp23b	T	C	11: 62,770,289 (GRCm39)		probably benign	Het
Zan	G	A	5: 137,462,618 (GRCm39)	P854S	probably benign	Het
Zfp831	T	C	2: 174,485,816 (GRCm39)	S164P	possibly damaging	Het

Other mutations in Vgf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0145:Vgf	UTSW	5	137,060,336 (GRCm39)	unclassified	probably benign
R1832:Vgf	UTSW	5	137,060,153 (GRCm39)	missense	possibly damaging	0.46
R1960:Vgf	UTSW	5	137,061,029 (GRCm39)	unclassified	probably benign
R2256:Vgf	UTSW	5	137,060,401 (GRCm39)	unclassified	probably benign
R3433:Vgf	UTSW	5	137,059,873 (GRCm39)	missense	probably benign	0.27
R4751:Vgf	UTSW	5	137,061,255 (GRCm39)	missense	probably damaging	0.99
R5304:Vgf	UTSW	5	137,061,140 (GRCm39)	missense	probably damaging	0.96
R6874:Vgf	UTSW	5	137,060,386 (GRCm39)	unclassified	probably benign
R6944:Vgf	UTSW	5	137,061,206 (GRCm39)	missense	probably damaging	0.99
R6969:Vgf	UTSW	5	137,060,507 (GRCm39)	unclassified	probably benign
R7511:Vgf	UTSW	5	137,060,245 (GRCm39)	missense	unknown
R7791:Vgf	UTSW	5	137,060,885 (GRCm39)	missense	unknown
R8356:Vgf	UTSW	5	137,061,265 (GRCm39)	missense	probably damaging	0.97
R8456:Vgf	UTSW	5	137,061,265 (GRCm39)	missense	probably damaging	0.97
R9310:Vgf	UTSW	5	137,061,110 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TGCTCCAGTATCTGTTGCAGG -3'
(R):5'- TGATGCTGACCACATCGTC -3'

Sequencing Primer
(F):5'- ATCTGTTGCAGGGCGGAG -3'
(R):5'- TGACCACATCGTCTGCTGG -3'

Posted On

2019-10-17