Mutagenetix > Incidental Mutation

Incidental Mutation 'R7651:Scg3'

590850

Institutional Source

Beutler Lab

Gene Symbol

Scg3

Ensembl Gene

ENSMUSG00000032181

Gene Name

secretogranin III

Synonyms

SgIII, 1B1075, Chgd

MMRRC Submission

045728-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7651 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75550471-75591338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75589332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 107 (N107I)

Ref Sequence

ENSEMBL: ENSMUSP00000034699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034699] [ENSMUST00000213324] [ENSMUST00000214244]

AlphaFold

P47867

Predicted Effect

probably benign
Transcript: ENSMUST00000034699
AA Change: N107I

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000034699
Gene: ENSMUSG00000032181
AA Change: N107I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213324
AA Change: N107I

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214244
AA Change: N74I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215603

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,184,188 (GRCm39)	V302G		Het
A230072I06Rik	T	C	8: 12,329,689 (GRCm39)	I48T	unknown	Het
Ada	T	A	2: 163,574,275 (GRCm39)	D127V	probably damaging	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Ankrd34c	T	C	9: 89,611,463 (GRCm39)	R293G	possibly damaging	Het
Ap2b1	T	C	11: 83,230,256 (GRCm39)		probably null	Het
Arhgef16	A	G	4: 154,375,524 (GRCm39)	S157P	probably damaging	Het
Atp2b1	C	T	10: 98,852,830 (GRCm39)	L1036F	probably damaging	Het
Ccdc27	A	T	4: 154,112,556 (GRCm39)	I573N	probably damaging	Het
Cep164	T	C	9: 45,685,150 (GRCm39)	E869G	probably benign	Het
Colq	A	T	14: 31,250,292 (GRCm39)	V381D	possibly damaging	Het
Drc1	A	G	5: 30,516,958 (GRCm39)	E519G	probably benign	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Epg5	C	T	18: 78,024,615 (GRCm39)	Q1157*	probably null	Het
Eqtn	T	C	4: 94,811,944 (GRCm39)	S150G	possibly damaging	Het
Fam110d	C	T	4: 133,978,959 (GRCm39)	R173H	probably damaging	Het
Fam216a	G	A	5: 122,505,445 (GRCm39)	H172Y	probably damaging	Het
Fbxw19	T	A	9: 109,323,714 (GRCm39)	D87V	probably damaging	Het
Fgr	A	T	4: 132,722,324 (GRCm39)	I198F	probably damaging	Het
Flnc	A	G	6: 29,444,049 (GRCm39)	D621G	probably benign	Het
Flt3	A	C	5: 147,291,732 (GRCm39)	Y573D	probably damaging	Het
Git2	A	T	5: 114,871,296 (GRCm39)	I603N	probably damaging	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gnb5	T	C	9: 75,250,853 (GRCm39)	F326L	probably damaging	Het
Grm8	A	T	6: 27,760,257 (GRCm39)	W358R	possibly damaging	Het
Hoxa3	A	G	6: 52,149,253 (GRCm39)	V126A	unknown	Het
Hras	T	C	7: 140,772,064 (GRCm39)	T144A	possibly damaging	Het
Hyal1	G	A	9: 107,455,569 (GRCm39)	R293H	probably damaging	Het
Ifnlr1	A	G	4: 135,417,919 (GRCm39)	S49G	possibly damaging	Het
Ighv8-11	C	A	12: 115,531,005 (GRCm39)	C41F	probably benign	Het
Jakmip1	A	G	5: 37,291,617 (GRCm39)	T689A	probably damaging	Het
Kcnb1	T	C	2: 167,030,281 (GRCm39)	H88R	probably damaging	Het
Kcnt2	T	A	1: 140,498,199 (GRCm39)	M892K	probably benign	Het
Lrba	C	A	3: 86,648,773 (GRCm39)	S2507*	probably null	Het
Mbp	C	T	18: 82,572,499 (GRCm39)	T65I	probably damaging	Het
Muc2	A	T	7: 141,290,750 (GRCm39)	Y12F		Het
Muc4	T	A	16: 32,576,949 (GRCm39)	S80T		Het
Muc5ac	A	G	7: 141,349,991 (GRCm39)	D579G	possibly damaging	Het
Muc5b	A	G	7: 141,417,760 (GRCm39)	T3569A	possibly damaging	Het
Myb	C	T	10: 21,032,273 (GRCm39)	R36H	probably damaging	Het
Myo6	T	C	9: 80,171,548 (GRCm39)		probably null	Het
Ogfod1	T	C	8: 94,763,981 (GRCm39)	V22A	probably benign	Het
Orai3	A	G	7: 127,373,236 (GRCm39)	I246V	probably damaging	Het
Otog	A	G	7: 45,891,185 (GRCm39)	M68V	probably benign	Het
Pcdh20	T	A	14: 88,706,589 (GRCm39)	D237V	probably damaging	Het
Pcdhb18	T	C	18: 37,624,046 (GRCm39)	F459L	probably benign	Het
Pik3c2g	C	T	6: 139,599,070 (GRCm39)	T62M	possibly damaging	Het
Plaa	T	C	4: 94,470,876 (GRCm39)	Y420C	probably damaging	Het
Ppp1r9b	C	T	11: 94,892,768 (GRCm39)	A656V	probably benign	Het
Pramel39-ps	T	C	5: 94,451,236 (GRCm39)	T297A	probably benign	Het
Prg4	T	A	1: 150,330,696 (GRCm39)	E659V	unknown	Het
Prlhr	C	A	19: 60,455,583 (GRCm39)	A328S	probably benign	Het
Prlr	A	T	15: 10,328,464 (GRCm39)	D313V	probably benign	Het
Prune2	C	T	19: 17,097,772 (GRCm39)	T1092I	probably damaging	Het
Psme4	T	A	11: 30,787,334 (GRCm39)	L1043H	probably damaging	Het
Ptprr	T	C	10: 116,087,084 (GRCm39)	V521A	probably benign	Het
Rab44	A	T	17: 29,367,179 (GRCm39)	D703V	unknown	Het
Rpl9-ps1	A	T	11: 83,535,911 (GRCm39)	Y179*	probably null	Het
Sh3bgrl2	T	C	9: 83,430,525 (GRCm39)	V5A	possibly damaging	Het
Slc7a12	T	C	3: 14,546,509 (GRCm39)	V218A	probably benign	Het
Sorcs2	A	G	5: 36,185,322 (GRCm39)	L918P	probably damaging	Het
Sox1	C	A	8: 12,446,686 (GRCm39)	A109E	probably damaging	Het
Syne1	T	A	10: 5,155,074 (GRCm39)	M5622L	probably benign	Het
Syne1	A	T	10: 5,293,416 (GRCm39)	L1305Q	probably damaging	Het
Tacc2	A	T	7: 130,224,884 (GRCm39)	H523L	probably benign	Het
Tas1r2	A	T	4: 139,396,938 (GRCm39)	D788V	probably benign	Het
Tcl1b5	T	A	12: 105,142,694 (GRCm39)	D7E	possibly damaging	Het
Tesc	A	G	5: 118,194,666 (GRCm39)	D159G	possibly damaging	Het
Tm2d2	G	T	8: 25,507,316 (GRCm39)		probably benign	Het
Tnfrsf11a	T	A	1: 105,737,171 (GRCm39)	C93S	probably damaging	Het
Tnfsf4	T	C	1: 161,244,593 (GRCm39)	V94A	probably benign	Het
Trav13n-3	T	A	14: 53,574,964 (GRCm39)	Y69N	probably benign	Het
Utp20	T	C	10: 88,590,457 (GRCm39)	D2339G	probably benign	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r114	G	T	17: 23,509,986 (GRCm39)	Y831*	probably null	Het
Vmn2r72	T	A	7: 85,401,146 (GRCm39)	N91I	probably damaging	Het
Zfp846	T	C	9: 20,499,808 (GRCm39)	S13P	possibly damaging	Het
Zfp934	G	T	13: 62,666,327 (GRCm39)	N116K	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
R7904:Scg3	UTSW	9	75,551,149 (GRCm39)	missense	probably damaging	1.00
R9045:Scg3	UTSW	9	75,570,522 (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'- GGTTTGACCTCAACTTTGGAC -3'
(R):5'- AACTAAAATGCATGTGTTGGGC -3'

Sequencing Primer
(F):5'- GACCTCAACTTTGGACTTGATG -3'
(R):5'- AATGCATGTGTTGGGCTTGGAAC -3'

Posted On

2019-10-24