Mutagenetix > Incidental Mutation

Incidental Mutation 'R7202:Scg3'

560386

Institutional Source

Beutler Lab

Gene Symbol

Scg3

Ensembl Gene

ENSMUSG00000032181

Gene Name

secretogranin III

Synonyms

SgIII, 1B1075, Chgd

MMRRC Submission

045280-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7202 (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 75590992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 6 (T6A)

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: T6A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000034699
Gene: ENSMUSG00000032181
AA Change: T6A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213324
AA Change: T6A

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214244
AA Change: T6A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000215603

Meta Mutation Damage Score

0.0631

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,917,236 (GRCm39)	I1467T	probably damaging	Het
Abtb3	A	G	10: 85,223,629 (GRCm39)	E146G	unknown	Het
Adgrf3	T	A	5: 30,409,378 (GRCm39)	K38*	probably null	Het
Ahdc1	T	A	4: 132,789,198 (GRCm39)	C146*	probably null	Het
Ahnak	A	T	19: 8,995,163 (GRCm39)	K5482N	probably damaging	Het
Arhgap23	C	T	11: 97,342,819 (GRCm39)	A367V	possibly damaging	Het
Arvcf	T	C	16: 18,223,948 (GRCm39)	S960P	probably damaging	Het
Asb14	C	A	14: 26,622,394 (GRCm39)	P74Q	probably benign	Het
Atad5	T	C	11: 79,980,601 (GRCm39)	V2A	probably damaging	Het
Baz2a	A	G	10: 127,954,428 (GRCm39)	I691M	possibly damaging	Het
Brca2	A	G	5: 150,455,819 (GRCm39)	T187A	probably benign	Het
Calr4	T	A	4: 109,101,254 (GRCm39)	N152K	possibly damaging	Het
Ccnb2	C	T	9: 70,318,128 (GRCm39)	A215T	probably damaging	Het
Cdh16	C	T	8: 105,340,780 (GRCm39)	D140N	unknown	Het
Ces1g	T	C	8: 94,029,595 (GRCm39)	T546A	probably benign	Het
Cfap74	G	T	4: 155,510,654 (GRCm39)		probably null	Het
Cfap91	T	C	16: 38,155,959 (GRCm39)	Y88C	probably benign	Het
Col5a1	G	T	2: 27,842,390 (GRCm39)	D422Y	unknown	Het
Cyp2c66	A	T	19: 39,130,348 (GRCm39)	Y61F	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah6	A	G	6: 73,158,688 (GRCm39)		probably null	Het
Dop1a	T	G	9: 86,386,220 (GRCm39)		probably null	Het
Fam163a	A	G	1: 155,954,834 (GRCm39)	F106L	probably damaging	Het
Gfy	T	C	7: 44,827,596 (GRCm39)	T167A	probably benign	Het
Gm6525	A	T	3: 84,082,341 (GRCm39)	R87S	probably benign	Het
Gramd1c	C	A	16: 43,879,584 (GRCm39)	A19S	possibly damaging	Het
Herc2	T	C	7: 55,781,034 (GRCm39)	V1233A	probably damaging	Het
Hibch	G	A	1: 52,892,874 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,450,027 (GRCm39)	S9C	probably benign	Het
Il17ra	A	G	6: 120,452,572 (GRCm39)	I252V	probably benign	Het
Ino80	A	T	2: 119,204,918 (GRCm39)	M1536K	probably benign	Het
Ipo11	A	T	13: 107,012,078 (GRCm39)	L568Q	probably damaging	Het
Kcnu1	T	G	8: 26,409,609 (GRCm39)		probably null	Het
Kdm5b	T	G	1: 134,552,497 (GRCm39)	S1158A	probably benign	Het
Kmt2a	T	C	9: 44,759,012 (GRCm39)	T946A	probably benign	Het
Kmt2e	A	T	5: 23,697,292 (GRCm39)		probably benign	Het
Krba1	G	A	6: 48,389,261 (GRCm39)	V594M	probably damaging	Het
Lamb1	T	C	12: 31,374,314 (GRCm39)	L1559P	probably damaging	Het
Lig1	C	T	7: 13,025,175 (GRCm39)	P227S	probably benign	Het
Lims2	T	A	18: 32,090,017 (GRCm39)	D255E	probably benign	Het
Marchf3	C	T	18: 56,909,161 (GRCm39)	C208Y	probably benign	Het
Mei1	A	G	15: 81,976,843 (GRCm39)	E142G		Het
Melk	G	T	4: 44,351,106 (GRCm39)	R549L	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myorg	T	C	4: 41,498,268 (GRCm39)	Y454C	probably damaging	Het
Nae1	T	C	8: 105,250,215 (GRCm39)	Y226C	possibly damaging	Het
Nap1l1	T	C	10: 111,326,964 (GRCm39)	F175S	probably damaging	Het
Ndn	T	C	7: 61,998,709 (GRCm39)	L185P	probably damaging	Het
Ndst3	T	A	3: 123,465,388 (GRCm39)	I195F	possibly damaging	Het
Ndufaf1	A	T	2: 119,488,907 (GRCm39)	S206T	probably benign	Het
Nek10	C	A	14: 14,836,171 (GRCm38)	H131N	probably benign	Het
Obsl1	T	A	1: 75,466,360 (GRCm39)	D1456V	possibly damaging	Het
Or10a2	A	G	7: 106,673,448 (GRCm39)	N138D	probably benign	Het
Or10ak7	C	T	4: 118,791,215 (GRCm39)	V277I	probably benign	Het
Or52s6	T	A	7: 103,092,292 (GRCm39)	T13S	probably benign	Het
Otog	C	T	7: 45,937,474 (GRCm39)	L1728F	probably damaging	Het
Pcx	A	T	19: 4,652,361 (GRCm39)	M150L	possibly damaging	Het
Pole	A	G	5: 110,444,973 (GRCm39)	D443G	possibly damaging	Het
Prr14	G	T	7: 127,075,648 (GRCm39)	R552L	probably damaging	Het
Rasgrf1	T	G	9: 89,899,125 (GRCm39)	S1156A	possibly damaging	Het
Rfc4	T	A	16: 22,946,359 (GRCm39)		probably benign	Het
Rfx5	G	T	3: 94,866,272 (GRCm39)	A524S	unknown	Het
Ryr3	G	A	2: 112,596,664 (GRCm39)	P2497S	probably damaging	Het
Slc26a9	A	T	1: 131,690,526 (GRCm39)	D510V	possibly damaging	Het
Stpg3	A	G	2: 25,104,586 (GRCm39)	F10L	probably damaging	Het
Tmc5	T	A	7: 118,239,179 (GRCm39)	H357Q	possibly damaging	Het
Tmem40	A	T	6: 115,707,420 (GRCm39)	L253H	probably damaging	Het
Tmie	A	G	9: 110,696,632 (GRCm39)	V83A	probably damaging	Het
Uck2	A	T	1: 167,054,084 (GRCm39)	I218N	probably damaging	Het
Vtn	A	G	11: 78,391,626 (GRCm39)	D310G	possibly damaging	Het
Wdr49	A	T	3: 75,240,580 (GRCm39)	S430T	probably benign	Het
Wtip	A	G	7: 33,832,087 (GRCm39)	V133A	probably benign	Het
Zbtb9	T	A	17: 27,193,666 (GRCm39)	V357E	probably damaging	Het
Zfp953	G	A	13: 67,491,706 (GRCm39)	T82M	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
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'- CAATATGCACGATACGAGATCTG -3'
(R):5'- AAGAGCCTGCATCCTCCTTC -3'

Sequencing Primer
(F):5'- TATGCACGATACGAGATCTGCTGAG -3'
(R):5'- ATCCTCCTTCCAGCCCGG -3'

Posted On

2019-06-26