Mutagenetix > Incidental Mutation

Incidental Mutation 'R1832:Vgf'

204860

Institutional Source

Beutler Lab

Gene Symbol

Vgf

Ensembl Gene

ENSMUSG00000037428

Gene Name

VGF nerve growth factor inducible

Synonyms

LOC381677

MMRRC Submission

039859-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1832 (G1)

Quality Score

154

Status

Validated

Chromosome

Chromosomal Location

137055246-137062205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 137060153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 105 (Q105L)

Ref Sequence

ENSEMBL: ENSMUSP00000140093 (fasta)

Gene Model

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

AlphaFold

Q0VGU4

Predicted Effect

unknown
Transcript: ENSMUST00000041543
AA Change: Q105L

SMART Domains

Protein: ENSMUSP00000048273
Gene: ENSMUSG00000037428
AA Change: Q105L

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

noncoding transcript
Transcript: ENSMUST00000154183

Predicted Effect

unknown
Transcript: ENSMUST00000186451
AA Change: Q105L

SMART Domains

Protein: ENSMUSP00000140735
Gene: ENSMUSG00000037428
AA Change: Q105L

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

possibly damaging
Transcript: ENSMUST00000187382
AA Change: Q105L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140093
Gene: ENSMUSG00000037428
AA Change: Q105L

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

Predicted Effect

unknown
Transcript: ENSMUST00000190827
AA Change: Q105L

SMART Domains

Protein: ENSMUSP00000140815
Gene: ENSMUSG00000037428
AA Change: Q105L

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

Meta Mutation Damage Score

0.1077

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.7%

Validation Efficiency

100% (82/82)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,350,509 (GRCm39)	D143V	unknown	Het
Abca8a	A	T	11: 109,962,277 (GRCm39)	N525K	probably damaging	Het
Abhd12	T	A	2: 150,690,338 (GRCm39)	D119V	probably damaging	Het
Adamts20	A	T	15: 94,184,225 (GRCm39)	M1526K	probably benign	Het
Ankdd1a	A	T	9: 65,411,771 (GRCm39)		probably null	Het
Ankrd1	C	T	19: 36,092,378 (GRCm39)	C283Y	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Bhlhe22	G	A	3: 18,109,139 (GRCm39)	C63Y	probably damaging	Het
Bmp8a	A	T	4: 123,218,885 (GRCm39)		probably benign	Het
Ccdc148	A	T	2: 58,891,911 (GRCm39)	S235T	probably damaging	Het
Ccdc88b	G	A	19: 6,830,900 (GRCm39)	Q681*	probably null	Het
Cep104	T	A	4: 154,087,003 (GRCm39)	V842E	probably benign	Het
Chac2	T	C	11: 30,927,568 (GRCm39)	N117S	probably benign	Het
Cimap3	C	T	3: 105,921,912 (GRCm39)	E4K	possibly damaging	Het
Cldn8	T	A	16: 88,359,746 (GRCm39)	I60F	probably benign	Het
Col16a1	G	A	4: 129,970,850 (GRCm39)		probably null	Het
Col4a1	A	G	8: 11,264,644 (GRCm39)		probably benign	Het
Cyp2a4	G	T	7: 26,011,635 (GRCm39)	E285D	probably damaging	Het
Cyp4a31	G	A	4: 115,426,928 (GRCm39)	G176D	probably benign	Het
Dmxl2	A	C	9: 54,368,233 (GRCm39)	Y246D	probably damaging	Het
Dync1h1	A	G	12: 110,580,493 (GRCm39)	K118R	probably damaging	Het
Dync2i1	T	A	12: 116,171,363 (GRCm39)	S958C	probably damaging	Het
Eif3h	T	C	15: 51,728,832 (GRCm39)	T8A	possibly damaging	Het
Fbh1	G	T	2: 11,772,211 (GRCm39)	L157I	probably benign	Het
Fbxo40	C	A	16: 36,789,218 (GRCm39)	G631*	probably null	Het
Gabrb1	T	A	5: 72,279,281 (GRCm39)		probably null	Het
Galc	A	G	12: 98,200,499 (GRCm39)		probably null	Het
Garin2	G	A	12: 78,762,280 (GRCm39)		probably benign	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Igkv13-54-1	A	T	6: 69,594,277 (GRCm39)	M31L	probably benign	Het
Lamc2	C	T	1: 153,041,933 (GRCm39)	R67Q	possibly damaging	Het
Lcn10	A	G	2: 25,575,151 (GRCm39)	D173G	probably damaging	Het
Llgl2	G	T	11: 115,741,926 (GRCm39)	R656L	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Ly6d	T	C	15: 74,634,615 (GRCm39)	K46E	probably damaging	Het
Map3k5	A	G	10: 19,975,306 (GRCm39)	N88D	probably damaging	Het
Mertk	A	T	2: 128,604,132 (GRCm39)	E422V	probably benign	Het
Mixl1	A	G	1: 180,522,296 (GRCm39)	V195A	probably benign	Het
Nmnat3	T	C	9: 98,281,521 (GRCm39)	V41A	probably damaging	Het
Or1r1	A	T	11: 73,875,319 (GRCm39)	N38K	probably damaging	Het
Or2a7	A	G	6: 43,151,834 (GRCm39)	R305G	probably benign	Het
Or7g34	A	G	9: 19,478,492 (GRCm39)	Y63H	possibly damaging	Het
Pappa2	T	A	1: 158,684,886 (GRCm39)	E751V	probably damaging	Het
Pcsk2	A	G	2: 143,635,189 (GRCm39)	S355G	probably damaging	Het
Pdzd2	A	G	15: 12,390,134 (GRCm39)	V821A	probably damaging	Het
Plxna4	A	C	6: 32,174,761 (GRCm39)	D1109E	probably benign	Het
Ppard	A	G	17: 28,516,084 (GRCm39)	M103V	probably benign	Het
Pramel51	T	C	12: 88,145,218 (GRCm39)	E44G	possibly damaging	Het
Ralgapa1	T	C	12: 55,804,752 (GRCm39)	T515A	probably benign	Het
Rin2	A	G	2: 145,703,091 (GRCm39)	I596V	possibly damaging	Het
Rnls	A	G	19: 33,145,895 (GRCm39)	S75P	possibly damaging	Het
Rsph10b	A	T	5: 143,903,997 (GRCm39)	Y236F	possibly damaging	Het
Runx1t1	C	T	4: 13,835,628 (GRCm39)		probably benign	Het
Sardh	A	G	2: 27,125,581 (GRCm39)	V311A	possibly damaging	Het
Sbno2	G	T	10: 79,896,439 (GRCm39)	Y889*	probably null	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sema4g	T	A	19: 44,987,456 (GRCm39)	V534E	probably benign	Het
Shoc1	T	G	4: 59,066,441 (GRCm39)	I768L	probably benign	Het
Slc10a1	G	A	12: 81,000,446 (GRCm39)	S351F	probably benign	Het
Slc19a3	A	T	1: 83,000,468 (GRCm39)	V183E	probably damaging	Het
Slc25a12	A	G	2: 71,164,054 (GRCm39)	Y74H	possibly damaging	Het
Slc6a19	T	A	13: 73,841,069 (GRCm39)	I114L	probably benign	Het
Smpd2	A	T	10: 41,364,232 (GRCm39)	C189S	probably benign	Het
Spon1	T	A	7: 113,616,018 (GRCm39)	V295D	probably benign	Het
Tet3	A	G	6: 83,380,627 (GRCm39)	S514P	probably benign	Het
Tnk1	T	C	11: 69,747,754 (GRCm39)	I49M	probably damaging	Het
Trim80	A	G	11: 115,337,619 (GRCm39)	T431A	probably benign	Het
Vmn1r37	G	T	6: 66,708,780 (GRCm39)	L135F	probably benign	Het
Vps37d	C	T	5: 135,102,594 (GRCm39)	A128T	possibly damaging	Het
Wwp1	T	C	4: 19,650,197 (GRCm39)	D323G	probably benign	Het
Zfp456	T	A	13: 67,515,482 (GRCm39)	I75L	probably benign	Het
Zfp990	A	G	4: 145,264,780 (GRCm39)	I593V	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
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
R7499:Vgf	UTSW	5	137,061,099 (GRCm39)	missense	probably damaging	0.99
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'- CTCTGAGCATAATGGGCAGG -3'
(R):5'- TCTCGAAGTTCTTGGAGCAAG -3'

Sequencing Primer
(F):5'- GCATAATGGGCAGGTAGCTG -3'
(R):5'- CAAGGATGCTAGCGCCTC -3'

Posted On

2014-06-23