Mutagenetix > Incidental Mutation

Incidental Mutation 'R9045:Scg3'

687997

Institutional Source

Beutler Lab

Gene Symbol

Scg3

Ensembl Gene

ENSMUSG00000032181

Gene Name

secretogranin III

Synonyms

SgIII, 1B1075, Chgd

MMRRC Submission

068872-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9045 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75550471-75591338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75570522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 344 (N344S)

Ref Sequence

ENSEMBL: ENSMUSP00000034699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034699] [ENSMUST00000213324]

AlphaFold

P47867

Predicted Effect

probably damaging
Transcript: ENSMUST00000034699
AA Change: N344S

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

SMART Domains

Protein: ENSMUSP00000034699
Gene: ENSMUSG00000032181
AA Change: N344S

Domain	Start	End	E-Value	Type
Pfam:SGIII	20	471	1.3e-215	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213324
AA Change: N344S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215603

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.6%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Granins may serve as precursors for biologically active peptides. Some granins have been shown to function as helper proteins in sorting and proteolytic processing of prohormones; however, the function of this protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous knockout causes dysregulation of the secretion of active peptide hormones from endocrine cells, exacerbating the adverse effects of inadequate diet (obesity, diabetes) and stress conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	A	C	8: 33,919,362 (GRCm39)	M61L		Het
9130401M01Rik	G	T	15: 57,892,130 (GRCm39)	A223E	possibly damaging	Het
Adgra1	T	G	7: 139,432,566 (GRCm39)	L135V	possibly damaging	Het
Aida	A	G	1: 183,094,940 (GRCm39)	E127G	possibly damaging	Het
Ankrd31	T	A	13: 96,968,034 (GRCm39)	L557*	probably null	Het
Atxn7l3	T	A	11: 102,183,272 (GRCm39)	T221S	probably damaging	Het
Bbs7	A	G	3: 36,666,184 (GRCm39)	S27P	probably benign	Het
Cela3b	A	T	4: 137,152,110 (GRCm39)	C116S	possibly damaging	Het
Clstn3	A	C	6: 124,408,921 (GRCm39)	M909R	probably damaging	Het
Cnot2	T	C	10: 116,322,160 (GRCm39)	E523G	probably benign	Het
Col12a1	T	A	9: 79,582,034 (GRCm39)	T1406S	probably benign	Het
Cr2	A	T	1: 194,837,680 (GRCm39)	N763K	possibly damaging	Het
Csmd1	A	G	8: 16,284,088 (GRCm39)	F557L	probably damaging	Het
Cyth1	T	C	11: 118,073,090 (GRCm39)	H270R	possibly damaging	Het
Epg5	T	C	18: 77,992,014 (GRCm39)	L237P	probably damaging	Het
Fbxo36	G	A	1: 84,874,300 (GRCm39)	D99N	probably damaging	Het
Fcgbpl1	T	A	7: 27,853,856 (GRCm39)	C1607S	probably damaging	Het
Flot2	A	G	11: 77,950,023 (GRCm39)	I417M	probably benign	Het
Fryl	A	G	5: 73,182,118 (GRCm39)	L143P		Het
Gckr	A	G	5: 31,457,353 (GRCm39)	N122S	possibly damaging	Het
Gm3250	T	A	10: 77,617,932 (GRCm39)	T149S	unknown	Het
Golga3	G	A	5: 110,340,963 (GRCm39)	M552I	probably benign	Het
Grip1	T	A	10: 119,871,356 (GRCm39)	D694E	probably damaging	Het
Heatr1	T	C	13: 12,428,233 (GRCm39)	V790A	probably benign	Het
Ighv1-54	G	A	12: 115,157,500 (GRCm39)	T49I	probably benign	Het
Iglv1	A	G	16: 18,904,053 (GRCm39)	V22A	probably benign	Het
Lama1	A	T	17: 68,060,838 (GRCm39)	Y722F		Het
Laptm5	A	T	4: 130,655,955 (GRCm39)	E91V		Het
Lrig1	A	G	6: 94,585,688 (GRCm39)		probably null	Het
Mcph1	T	G	8: 18,682,443 (GRCm39)	S527A	probably benign	Het
Med13l	G	T	5: 118,880,816 (GRCm39)	V1303L	probably benign	Het
Mindy4	A	G	6: 55,295,283 (GRCm39)	D741G	probably benign	Het
Myo15b	T	A	11: 115,783,178 (GRCm39)	*3034R	probably null	Het
Nfkbie	A	T	17: 45,872,959 (GRCm39)	K354I	probably damaging	Het
Npat	A	G	9: 53,474,776 (GRCm39)	N856S	possibly damaging	Het
Nr2c2ap	A	G	8: 70,585,808 (GRCm39)	D122G	probably damaging	Het
Nr4a3	C	A	4: 48,067,694 (GRCm39)	T430K	possibly damaging	Het
Or12e10	C	A	2: 87,640,416 (GRCm39)	S84Y	probably damaging	Het
Or52ab4	T	G	7: 102,987,903 (GRCm39)	I214R	probably damaging	Het
Or5h25	A	G	16: 58,930,365 (GRCm39)	S203P	probably benign	Het
Otud7b	A	G	3: 96,059,895 (GRCm39)	K397E	probably benign	Het
Pafah1b3	G	T	7: 24,996,898 (GRCm39)		probably benign	Het
Pcdhgc3	G	T	18: 37,940,669 (GRCm39)	V357L	probably damaging	Het
Pde2a	A	G	7: 101,152,498 (GRCm39)	T354A	unknown	Het
Pira12	A	G	7: 3,897,547 (GRCm39)	I516T	possibly damaging	Het
Rbfa	T	C	18: 80,236,026 (GRCm39)	H241R	probably damaging	Het
Rhox3c	C	T	X: 36,651,303 (GRCm39)		probably benign	Het
Rps6ka1	C	T	4: 133,600,150 (GRCm39)		probably benign	Het
S1pr2	T	C	9: 20,878,890 (GRCm39)	T313A	probably benign	Het
Sbno1	A	G	5: 124,543,720 (GRCm39)	V273A	probably benign	Het
Serpinb1c	C	G	13: 33,066,027 (GRCm39)	G306A	probably benign	Het
Sh2d6	C	T	6: 72,492,604 (GRCm39)	G206D	probably benign	Het
Slamf9	G	A	1: 172,304,938 (GRCm39)	S184N	probably damaging	Het
Slc50a1	T	C	3: 89,176,042 (GRCm39)	T168A	probably damaging	Het
Tas2r124	G	C	6: 132,732,034 (GRCm39)	W114C	probably damaging	Het
Tgm4	C	T	9: 122,877,616 (GRCm39)	T206I	possibly damaging	Het
Tmem52	A	G	4: 155,553,899 (GRCm39)		probably null	Het
Vmn2r102	A	G	17: 19,880,841 (GRCm39)	K61E	probably benign	Het
Vmn2r58	T	C	7: 41,487,087 (GRCm39)	I603V	probably benign	Het
Vstm2l	G	T	2: 157,756,795 (GRCm39)	G22V	unknown	Het
Vwa5b1	T	A	4: 138,315,990 (GRCm39)	Y584F	probably damaging	Het
Wdfy3	A	T	5: 101,995,040 (GRCm39)	V3233D	probably damaging	Het
Wdhd1	A	G	14: 47,511,409 (GRCm39)	V101A	probably benign	Het
Zfc3h1	C	A	10: 115,263,319 (GRCm39)	Q1761K	possibly damaging	Het
Zfp180	G	A	7: 23,804,315 (GRCm39)	V245I	probably benign	Het
Zfp846	A	T	9: 20,505,189 (GRCm39)	I350L	probably benign	Het

Other mutations in Scg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Scg3	APN	9	75,570,519 (GRCm39)	missense	probably damaging	1.00
IGL02221:Scg3	APN	9	75,590,939 (GRCm39)	missense	probably damaging	0.99
IGL03391:Scg3	APN	9	75,568,533 (GRCm39)	critical splice donor site	probably null
R0137:Scg3	UTSW	9	75,570,462 (GRCm39)	unclassified	probably benign
R0366:Scg3	UTSW	9	75,582,620 (GRCm39)	splice site	probably benign
R0650:Scg3	UTSW	9	75,576,617 (GRCm39)	missense	probably damaging	1.00
R0654:Scg3	UTSW	9	75,573,017 (GRCm39)	missense	probably damaging	1.00
R0666:Scg3	UTSW	9	75,551,222 (GRCm39)	nonsense	probably null
R0827:Scg3	UTSW	9	75,590,979 (GRCm39)	missense	possibly damaging	0.81
R1317:Scg3	UTSW	9	75,576,622 (GRCm39)	missense	probably damaging	1.00
R1553:Scg3	UTSW	9	75,576,586 (GRCm39)	missense	probably null	1.00
R1751:Scg3	UTSW	9	75,576,622 (GRCm39)	missense	probably damaging	1.00
R1761:Scg3	UTSW	9	75,584,040 (GRCm39)	missense	probably damaging	1.00
R1850:Scg3	UTSW	9	75,589,449 (GRCm39)	missense	possibly damaging	0.56
R2059:Scg3	UTSW	9	75,572,998 (GRCm39)	missense	probably damaging	1.00
R2137:Scg3	UTSW	9	75,584,092 (GRCm39)	missense	probably damaging	0.96
R2384:Scg3	UTSW	9	75,573,008 (GRCm39)	missense	probably damaging	1.00
R3870:Scg3	UTSW	9	75,582,781 (GRCm39)	splice site	probably benign
R4260:Scg3	UTSW	9	75,558,979 (GRCm39)	missense	probably damaging	1.00
R5371:Scg3	UTSW	9	75,568,583 (GRCm39)	missense	probably damaging	1.00
R5417:Scg3	UTSW	9	75,576,538 (GRCm39)	missense	probably benign	0.02
R6013:Scg3	UTSW	9	75,584,090 (GRCm39)	missense	probably damaging	1.00
R7052:Scg3	UTSW	9	75,568,664 (GRCm39)	nonsense	probably null
R7202:Scg3	UTSW	9	75,590,992 (GRCm39)	missense	probably benign	0.06
R7211:Scg3	UTSW	9	75,589,366 (GRCm39)	missense	probably benign	0.00
R7471:Scg3	UTSW	9	75,589,374 (GRCm39)	missense	probably damaging	1.00
R7490:Scg3	UTSW	9	75,576,559 (GRCm39)	missense	possibly damaging	0.94
R7651:Scg3	UTSW	9	75,589,332 (GRCm39)	missense	probably benign	0.03
R7904:Scg3	UTSW	9	75,551,149 (GRCm39)	missense	probably damaging	1.00
R9228:Scg3	UTSW	9	75,558,955 (GRCm39)	missense	probably damaging	1.00
R9785:Scg3	UTSW	9	75,589,322 (GRCm39)	missense	probably damaging	1.00
Z1176:Scg3	UTSW	9	75,576,598 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- GCTATTCCTACGGTTGAACTTG -3'
(R):5'- TACTTCCTAAACTAAGCCAGCTGG -3'

Sequencing Primer
(F):5'- ACGGTTGAACTTGAGATTTTAAAATG -3'
(R):5'- CCTAGGGTAGAATGAGGCTCTAC -3'

Posted On

2021-11-19