Mutagenetix > Incidental Mutation

Incidental Mutation 'R1850:Scg3'

208009

Institutional Source

Beutler Lab

Gene Symbol

Scg3

Ensembl Gene

ENSMUSG00000032181

Gene Name

secretogranin III

Synonyms

SgIII, 1B1075, Chgd

MMRRC Submission

039874-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75550471-75591338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75589449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 35 (S35N)

Ref Sequence

ENSEMBL: ENSMUSP00000151074 (fasta)

Gene Model

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

AlphaFold

P47867

Predicted Effect

probably benign
Transcript: ENSMUST00000034699
AA Change: S68N

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034699
Gene: ENSMUSG00000032181
AA Change: S68N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213324
AA Change: S68N

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214176

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214244
AA Change: S35N

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

unknown
Transcript: ENSMUST00000215603
AA Change: V41M

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215722

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	A	14: 68,876,644 (GRCm39)	Q202L	probably benign	Het
Adgb	C	A	10: 10,318,246 (GRCm39)	V199F	probably damaging	Het
Aff1	G	T	5: 103,981,773 (GRCm39)	R645S	probably damaging	Het
Aoc1	C	T	6: 48,882,202 (GRCm39)	S48F	probably benign	Het
Atf6	A	T	1: 170,646,855 (GRCm39)	N339K	probably damaging	Het
Bpifb3	C	G	2: 153,771,264 (GRCm39)	S392C	possibly damaging	Het
Camk1d	T	C	2: 5,366,826 (GRCm39)	M130V	probably benign	Het
Ces1a	T	A	8: 93,753,954 (GRCm39)	N350Y	probably damaging	Het
Cfap57	G	A	4: 118,457,091 (GRCm39)	R453C	probably damaging	Het
Chd4	T	A	6: 125,098,619 (GRCm39)	N1532K	probably damaging	Het
Chd5	T	C	4: 152,454,990 (GRCm39)	L824P	probably damaging	Het
Ckap5	G	A	2: 91,426,058 (GRCm39)	R1306H	probably damaging	Het
Crybg1	A	G	10: 43,873,670 (GRCm39)	F1146S	probably damaging	Het
Dusp12	G	A	1: 170,708,198 (GRCm39)	T173M	probably benign	Het
Dync2h1	T	C	9: 7,001,448 (GRCm39)	T3854A	probably benign	Het
Echdc1	A	T	10: 29,220,599 (GRCm39)	I252F	probably damaging	Het
Emc1	A	T	4: 139,086,684 (GRCm39)		probably benign	Het
Fbn2	C	A	18: 58,172,377 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,814,933 (GRCm39)	N3555K	possibly damaging	Het
Gabra1	T	A	11: 42,070,403 (GRCm39)	T20S	probably benign	Het
Igf1	A	C	10: 87,697,236 (GRCm39)	T2P	possibly damaging	Het
Insyn1	A	T	9: 58,406,392 (GRCm39)	M101L	probably benign	Het
Jcad	C	A	18: 4,675,730 (GRCm39)	T1164N	possibly damaging	Het
Kalrn	A	T	16: 33,796,293 (GRCm39)	S2830T	probably damaging	Het
Lepr	C	A	4: 101,590,620 (GRCm39)	A66E	possibly damaging	Het
Lmntd1	T	A	6: 145,359,206 (GRCm39)	M315L	probably benign	Het
Lrch3	A	G	16: 32,807,163 (GRCm39)	T479A	probably benign	Het
Macroh2a1	T	C	13: 56,244,052 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,715,110 (GRCm39)	N237D	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtif2	A	G	11: 29,490,683 (GRCm39)	I462M	probably benign	Het
Nrip1	T	C	16: 76,090,232 (GRCm39)	I442V	probably damaging	Het
Or11g25	G	A	14: 50,723,055 (GRCm39)	A47T	probably benign	Het
Or6b2b	T	A	1: 92,419,124 (GRCm39)	M118L	possibly damaging	Het
Or8k35	A	T	2: 86,424,448 (GRCm39)	C241*	probably null	Het
Otogl	T	A	10: 107,713,925 (GRCm39)	Y498F	probably damaging	Het
Pbx3	A	T	2: 34,066,832 (GRCm39)	F351I	probably benign	Het
Pcdh18	T	C	3: 49,710,854 (GRCm39)	T154A	probably benign	Het
Pex5l	A	T	3: 33,005,025 (GRCm39)		probably null	Het
Plec	T	C	15: 76,072,432 (GRCm39)	I718V	probably benign	Het
Pparg	T	A	6: 115,427,941 (GRCm39)	Y143N	probably damaging	Het
Prl2c5	A	G	13: 13,360,377 (GRCm39)	I12V	probably benign	Het
Rcor3	T	A	1: 191,804,411 (GRCm39)	Q246L	probably benign	Het
Rnf214	A	T	9: 45,780,746 (GRCm39)		probably benign	Het
S1pr5	A	T	9: 21,155,425 (GRCm39)	S334T	probably benign	Het
Septin5	A	T	16: 18,443,960 (GRCm39)	L19Q	probably damaging	Het
Serpinb7	T	C	1: 107,356,025 (GRCm39)	F16S	probably damaging	Het
Sipa1l3	A	T	7: 29,038,551 (GRCm39)	S365R	probably damaging	Het
Slc27a1	T	C	8: 72,033,347 (GRCm39)		probably null	Het
Slc2a10	C	A	2: 165,357,133 (GRCm39)	H264Q	probably benign	Het
Slc9a3	A	G	13: 74,309,889 (GRCm39)	I526V	probably benign	Het
Smchd1	T	C	17: 71,696,766 (GRCm39)	D1203G	probably damaging	Het
Spata6l	T	C	19: 28,916,571 (GRCm39)		probably null	Het
Sult1b1	A	G	5: 87,668,700 (GRCm39)	W181R	probably damaging	Het
Supt6	A	G	11: 78,110,703 (GRCm39)		probably benign	Het
Tcf12	C	A	9: 71,775,497 (GRCm39)	A418S	probably damaging	Het
Tesk1	C	T	4: 43,443,576 (GRCm39)	R48C	probably damaging	Het
Tiam2	A	G	17: 3,487,510 (GRCm39)	Q677R	probably damaging	Het
Tspan8	C	T	10: 115,669,130 (GRCm39)	A55V	probably damaging	Het
Txndc11	T	C	16: 10,906,268 (GRCm39)	N421D	probably damaging	Het
Vmn1r201	A	G	13: 22,658,801 (GRCm39)	N5S	probably benign	Het
Vmn2r120	T	A	17: 57,832,826 (GRCm39)	I118L	probably benign	Het
Vps13b	A	T	15: 35,675,105 (GRCm39)		probably benign	Het
Wdfy3	A	G	5: 102,042,865 (GRCm39)	V1962A	probably damaging	Het
Zswim8	C	T	14: 20,760,815 (GRCm39)	R107*	probably null	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
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
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'- GGAATCGTACTCATCGATCAGTTTC -3'
(R):5'- TTTGTCAGTATCACAGGAGAGAG -3'

Sequencing Primer
(F):5'- CATCGATCAGTTTCCGATTTTTGG -3'
(R):5'- CATTTAATCCTGACAACGGTGC -3'

Posted On

2014-06-23