Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00230:Sgsm1'

2401

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, 2410098H20Rik, D5Bwg1524e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00230

Quality Score

Status

Chromosome

Chromosomal Location

113243220-113310786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113245064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 788 (I788V)

Ref Sequence

ENSEMBL: ENSMUSP00000084106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048112] [ENSMUST00000057209]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048112
AA Change: I1075V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: I1075V

Domain	Start	End	E-Value	Type
RUN	127	187	6.52e-18	SMART
low complexity region	401	413	N/A	INTRINSIC
low complexity region	454	469	N/A	INTRINSIC
TBC	559	1053	2.88e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000057209
AA Change: I788V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: I788V

Domain	Start	End	E-Value	Type
low complexity region	114	126	N/A	INTRINSIC
low complexity region	167	182	N/A	INTRINSIC
TBC	272	766	2.88e-29	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bin1	C	T	18: 32,420,107	A215V	probably damaging	Het
Cyp2j6	C	T	4: 96,536,046	R158H	possibly damaging	Het
Dnaaf2	T	C	12: 69,196,766	D507G	probably benign	Het
Fam13b	T	C	18: 34,487,096	E245G	possibly damaging	Het
Gal3st1	A	T	11: 3,999,070		probably benign	Het
Galnt5	A	T	2: 57,998,973	Q195L	probably benign	Het
Gfm2	A	G	13: 97,155,442	T229A	probably benign	Het
Gigyf1	A	G	5: 137,522,745		probably benign	Het
Gm4353	G	T	7: 116,083,554	T264K	probably damaging	Het
Gsk3b	A	T	16: 38,228,707	I389F	probably benign	Het
Hist1h2bm	G	T	13: 21,722,375	R93L	possibly damaging	Het
Htt	A	G	5: 34,799,408	T194A	probably benign	Het
Ighg3	T	C	12: 113,359,837	Y273C	unknown	Het
Kdm5b	T	A	1: 134,620,955	V1066D	probably damaging	Het
Kif1a	G	T	1: 93,054,934	A707E	probably damaging	Het
Maats1	A	G	16: 38,336,342		probably null	Het
Mars	A	G	10: 127,298,006	M674T	probably benign	Het
Mas1	T	C	17: 12,841,990	D182G	probably benign	Het
Metap1d	T	A	2: 71,512,162	D178E	probably damaging	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Ninl	T	C	2: 150,966,241	E289G	probably damaging	Het
Pmel	G	T	10: 128,716,089	G264V	possibly damaging	Het
Ruvbl1	T	C	6: 88,484,403		probably benign	Het
Scn8a	T	A	15: 100,955,532		probably benign	Het
Sept9	T	C	11: 117,354,804		probably benign	Het
Sgpp1	G	T	12: 75,716,194	Y404*	probably null	Het
Slc13a4	A	T	6: 35,289,824	M112K	probably benign	Het
Slc22a29	T	C	19: 8,217,813	M153V	probably benign	Het
Slc9c1	T	G	16: 45,573,389	V565G	possibly damaging	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Tec	C	T	5: 72,768,768	A314T	probably damaging	Het
Tg	A	G	15: 66,827,290	I803V	probably benign	Het
Trav9-1	A	T	14: 53,488,393	I55F	probably benign	Het
Ttll12	C	A	15: 83,578,656	E536D	probably benign	Het
Ubqln1	C	A	13: 58,177,992	E152*	probably null	Het
Wwtr1	G	A	3: 57,463,491	T338I	probably benign	Het
Zdhhc16	T	C	19: 41,939,660	F206S	probably benign	Het

Other mutations in Sgsm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Sgsm1	APN	5	113,276,142 (GRCm38)	missense	probably benign	0.00
IGL01377:Sgsm1	APN	5	113,276,182 (GRCm38)	splice site	probably benign
IGL01602:Sgsm1	APN	5	113,285,665 (GRCm38)	missense	possibly damaging	0.92
IGL01605:Sgsm1	APN	5	113,285,665 (GRCm38)	missense	possibly damaging	0.92
IGL01669:Sgsm1	APN	5	113,263,490 (GRCm38)	missense	probably benign
IGL01920:Sgsm1	APN	5	113,273,605 (GRCm38)	missense	probably damaging	1.00
IGL01951:Sgsm1	APN	5	113,286,767 (GRCm38)	splice site	probably benign
IGL02387:Sgsm1	APN	5	113,253,063 (GRCm38)	missense	possibly damaging	0.93
IGL02690:Sgsm1	APN	5	113,286,767 (GRCm38)	splice site	probably benign
IGL03177:Sgsm1	APN	5	113,250,993 (GRCm38)	missense	probably damaging	1.00
IGL03186:Sgsm1	APN	5	113,285,021 (GRCm38)	missense	probably benign	0.00
IGL03398:Sgsm1	APN	5	113,255,316 (GRCm38)	missense	possibly damaging	0.67
caliente	UTSW	5	113,280,462 (GRCm38)	intron	probably benign
Chili	UTSW	5	113,258,123 (GRCm38)	intron	probably benign
pimiento	UTSW	5	113,263,257 (GRCm38)	missense	probably benign	0.15
R0048:Sgsm1	UTSW	5	113,268,750 (GRCm38)	missense	probably damaging	1.00
R0058:Sgsm1	UTSW	5	113,285,087 (GRCm38)	missense	probably damaging	1.00
R0058:Sgsm1	UTSW	5	113,285,087 (GRCm38)	missense	probably damaging	1.00
R0082:Sgsm1	UTSW	5	113,288,836 (GRCm38)	missense	probably benign	0.01
R0085:Sgsm1	UTSW	5	113,279,270 (GRCm38)	splice site	probably benign
R0099:Sgsm1	UTSW	5	113,274,360 (GRCm38)	splice site	probably benign
R0269:Sgsm1	UTSW	5	113,286,929 (GRCm38)	critical splice acceptor site	probably null
R0310:Sgsm1	UTSW	5	113,263,705 (GRCm38)	missense	probably benign	0.00
R0325:Sgsm1	UTSW	5	113,288,835 (GRCm38)	missense	probably damaging	0.99
R0420:Sgsm1	UTSW	5	113,263,759 (GRCm38)	missense	probably benign	0.16
R0594:Sgsm1	UTSW	5	113,310,562 (GRCm38)	missense	probably benign	0.00
R0599:Sgsm1	UTSW	5	113,245,028 (GRCm38)	missense	probably damaging	1.00
R0631:Sgsm1	UTSW	5	113,285,123 (GRCm38)	splice site	probably benign
R0744:Sgsm1	UTSW	5	113,279,184 (GRCm38)	missense	probably benign	0.38
R0833:Sgsm1	UTSW	5	113,279,184 (GRCm38)	missense	probably benign	0.38
R0919:Sgsm1	UTSW	5	113,258,842 (GRCm38)	missense	probably damaging	1.00
R0944:Sgsm1	UTSW	5	113,265,874 (GRCm38)	missense	probably benign	0.40
R1169:Sgsm1	UTSW	5	113,279,485 (GRCm38)	missense	probably damaging	1.00
R1232:Sgsm1	UTSW	5	113,273,711 (GRCm38)	nonsense	probably null
R1473:Sgsm1	UTSW	5	113,263,257 (GRCm38)	missense	probably benign	0.15
R1535:Sgsm1	UTSW	5	113,263,269 (GRCm38)	missense	possibly damaging	0.93
R1796:Sgsm1	UTSW	5	113,273,617 (GRCm38)	missense	possibly damaging	0.58
R1878:Sgsm1	UTSW	5	113,263,515 (GRCm38)	missense	probably damaging	0.97
R2084:Sgsm1	UTSW	5	113,285,400 (GRCm38)	missense	probably damaging	1.00
R3855:Sgsm1	UTSW	5	113,263,259 (GRCm38)	missense	probably benign	0.01
R3856:Sgsm1	UTSW	5	113,263,259 (GRCm38)	missense	probably benign	0.01
R4294:Sgsm1	UTSW	5	113,285,404 (GRCm38)	missense	probably damaging	1.00
R4373:Sgsm1	UTSW	5	113,258,123 (GRCm38)	intron	probably benign
R4558:Sgsm1	UTSW	5	113,258,111 (GRCm38)	intron	probably benign
R4610:Sgsm1	UTSW	5	113,255,307 (GRCm38)	missense	probably damaging	1.00
R4667:Sgsm1	UTSW	5	113,260,047 (GRCm38)	critical splice donor site	probably null
R4838:Sgsm1	UTSW	5	113,282,626 (GRCm38)	missense	probably damaging	1.00
R4890:Sgsm1	UTSW	5	113,280,462 (GRCm38)	intron	probably benign
R4992:Sgsm1	UTSW	5	113,282,620 (GRCm38)	missense	possibly damaging	0.89
R5366:Sgsm1	UTSW	5	113,251,039 (GRCm38)	missense	possibly damaging	0.91
R5776:Sgsm1	UTSW	5	113,250,957 (GRCm38)	missense	probably damaging	1.00
R5813:Sgsm1	UTSW	5	113,250,956 (GRCm38)	missense	probably damaging	1.00
R6000:Sgsm1	UTSW	5	113,286,838 (GRCm38)	missense	probably damaging	1.00
R6354:Sgsm1	UTSW	5	113,282,656 (GRCm38)	missense	probably damaging	0.99
R6440:Sgsm1	UTSW	5	113,279,131 (GRCm38)	critical splice donor site	probably null
R6831:Sgsm1	UTSW	5	113,280,380 (GRCm38)	missense	probably damaging	0.97
R7307:Sgsm1	UTSW	5	113,273,646 (GRCm38)	missense	probably benign	0.00
R7309:Sgsm1	UTSW	5	113,268,846 (GRCm38)	splice site	probably null
R7387:Sgsm1	UTSW	5	113,263,700 (GRCm38)	missense	probably damaging	1.00
R7439:Sgsm1	UTSW	5	113,274,321 (GRCm38)	missense	probably damaging	0.99
R7485:Sgsm1	UTSW	5	113,279,635 (GRCm38)	splice site	probably null
R7624:Sgsm1	UTSW	5	113,274,335 (GRCm38)	nonsense	probably null
R7632:Sgsm1	UTSW	5	113,276,082 (GRCm38)	missense	possibly damaging	0.54
R7669:Sgsm1	UTSW	5	113,253,024 (GRCm38)	missense	probably damaging	1.00
R7727:Sgsm1	UTSW	5	113,274,327 (GRCm38)	missense	possibly damaging	0.95
R7732:Sgsm1	UTSW	5	113,266,330 (GRCm38)	missense	probably benign	0.26
R7961:Sgsm1	UTSW	5	113,282,644 (GRCm38)	missense	probably damaging	1.00
R8088:Sgsm1	UTSW	5	113,255,268 (GRCm38)	missense	probably damaging	1.00
R8213:Sgsm1	UTSW	5	113,251,011 (GRCm38)	missense	probably damaging	1.00
R8278:Sgsm1	UTSW	5	113,260,092 (GRCm38)	missense	probably damaging	0.98
R8480:Sgsm1	UTSW	5	113,263,418 (GRCm38)	missense	probably benign	0.01
R8796:Sgsm1	UTSW	5	113,263,257 (GRCm38)	missense	probably benign	0.15
R8816:Sgsm1	UTSW	5	113,287,231 (GRCm38)	missense	probably damaging	1.00
R8904:Sgsm1	UTSW	5	113,273,629 (GRCm38)	missense	probably benign	0.00
R8905:Sgsm1	UTSW	5	113,273,629 (GRCm38)	missense	probably benign	0.00
R8952:Sgsm1	UTSW	5	113,284,995 (GRCm38)	missense	probably damaging	1.00
R9046:Sgsm1	UTSW	5	113,288,859 (GRCm38)	missense	probably damaging	1.00
R9162:Sgsm1	UTSW	5	113,282,711 (GRCm38)	missense	probably damaging	1.00
R9249:Sgsm1	UTSW	5	113,280,335 (GRCm38)	missense	possibly damaging	0.86
R9375:Sgsm1	UTSW	5	113,274,273 (GRCm38)	missense	unknown
R9377:Sgsm1	UTSW	5	113,288,875 (GRCm38)	missense	probably damaging	1.00
R9461:Sgsm1	UTSW	5	113,276,032 (GRCm38)	critical splice donor site	probably null
R9662:Sgsm1	UTSW	5	113,279,231 (GRCm38)	missense	probably benign	0.03
R9722:Sgsm1	UTSW	5	113,280,341 (GRCm38)	missense	possibly damaging	0.75
R9726:Sgsm1	UTSW	5	113,310,552 (GRCm38)	missense	probably benign
Z1177:Sgsm1	UTSW	5	113,282,710 (GRCm38)	missense	probably damaging	1.00

Posted On

2011-12-09