Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02236:Sgsm2'

285887

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sgsm2

Ensembl Gene

ENSMUSG00000038351

Gene Name

small G protein signaling modulator 2

Synonyms

D630003G22Rik, Rutbc1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

IGL02236

Quality Score

Status

Chromosome

Chromosomal Location

74849261-74897060 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74859872 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 439 (G439D)

Ref Sequence

ENSEMBL: ENSMUSP00000050496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057631] [ENSMUST00000081799]

Predicted Effect

probably damaging
Transcript: ENSMUST00000057631
AA Change: G439D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351
AA Change: G439D

Domain	Start	End	E-Value	Type
RUN	128	188	4.3e-18	SMART
low complexity region	453	476	N/A	INTRINSIC
TBC	563	965	3.57e-34	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081799
AA Change: G484D

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351
AA Change: G484D

Domain	Start	End	E-Value	Type
RUN	128	188	4.3e-18	SMART
low complexity region	446	453	N/A	INTRINSIC
low complexity region	498	521	N/A	INTRINSIC
TBC	608	1010	3.57e-34	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123573

Coding Region Coverage

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 GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baz1b	T	C	5: 135,217,284	L529P	probably damaging	Het
Bdp1	A	T	13: 100,060,891	D995E	probably benign	Het
Cd22	T	C	7: 30,867,468	N607S	possibly damaging	Het
Ddx10	T	A	9: 53,235,382	D180V	probably damaging	Het
Dennd4c	T	C	4: 86,807,435	Y709H	possibly damaging	Het
Dhrs3	A	C	4: 144,893,563	I17L	probably benign	Het
Dnah8	A	T	17: 30,649,773	K394*	probably null	Het
Flnc	T	A	6: 29,454,376	I1896N	probably damaging	Het
Glipr1l2	A	G	10: 112,092,629	Y143C	probably damaging	Het
Lmo7	T	C	14: 101,926,088		probably benign	Het
Lpp	C	T	16: 24,762,145	R204W	probably damaging	Het
Mast3	A	G	8: 70,789,244	S98P	probably benign	Het
Myf5	A	G	10: 107,484,190	S200P	possibly damaging	Het
Olfr582	T	G	7: 103,041,721	S76A	possibly damaging	Het
Pramef8	G	A	4: 143,416,942	V93I	probably benign	Het
Recql5	A	C	11: 115,894,030	S824A	probably benign	Het
Reg2	A	G	6: 78,406,205	E45G	probably damaging	Het
Rergl	T	C	6: 139,494,920	D77G	probably benign	Het
Rnf224	T	C	2: 25,236,248	D31G	probably damaging	Het
Sema4c	C	T	1: 36,553,085	S227N	probably damaging	Het
Smap2	T	A	4: 120,975,390	M185L	probably benign	Het
Spty2d1	A	G	7: 46,997,612	V523A	probably benign	Het
Stk17b	C	A	1: 53,764,088	R184L	probably damaging	Het
Syt13	A	G	2: 92,940,865	D99G	probably damaging	Het
Trav14-1	T	A	14: 53,554,306	S38T	possibly damaging	Het
Ttn	T	C	2: 76,870,468		probably benign	Het
Usp17la	G	A	7: 104,861,146	W319*	probably null	Het
Vmn2r73	T	C	7: 85,872,694	T146A	probably benign	Het
Vwa3b	C	T	1: 37,154,051		probably benign	Het
Zfp13	A	T	17: 23,580,765		probably benign	Het
Zscan18	A	C	7: 12,769,324	D769E	probably benign	Het

Other mutations in Sgsm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01469:Sgsm2	APN	11	74853871	missense	possibly damaging	0.91
IGL02164:Sgsm2	APN	11	74865416	missense	possibly damaging	0.90
IGL02330:Sgsm2	APN	11	74858667	missense	probably benign	0.01
IGL02352:Sgsm2	APN	11	74892074	splice site	probably benign
IGL02359:Sgsm2	APN	11	74892074	splice site	probably benign
IGL03061:Sgsm2	APN	11	74851136	missense	probably damaging	1.00
IGL03180:Sgsm2	APN	11	74868575	critical splice donor site	probably null
R0208:Sgsm2	UTSW	11	74868241	missense	probably damaging	1.00
R0433:Sgsm2	UTSW	11	74858190	splice site	probably null
R0517:Sgsm2	UTSW	11	74867651	missense	possibly damaging	0.62
R0755:Sgsm2	UTSW	11	74865497	missense	probably damaging	1.00
R1439:Sgsm2	UTSW	11	74869138	missense	probably benign	0.34
R1527:Sgsm2	UTSW	11	74853848	nonsense	probably null
R1713:Sgsm2	UTSW	11	74896826	missense	probably null	0.04
R1962:Sgsm2	UTSW	11	74892028	missense	probably damaging	1.00
R2189:Sgsm2	UTSW	11	74853082	missense	probably damaging	1.00
R4259:Sgsm2	UTSW	11	74892028	missense	probably damaging	1.00
R4261:Sgsm2	UTSW	11	74892028	missense	probably damaging	1.00
R4408:Sgsm2	UTSW	11	74851766	missense	probably damaging	0.99
R4590:Sgsm2	UTSW	11	74851132	missense	probably damaging	1.00
R6137:Sgsm2	UTSW	11	74850851	missense	probably damaging	1.00
R6162:Sgsm2	UTSW	11	74892021	missense	probably damaging	1.00
R6457:Sgsm2	UTSW	11	74865169	missense	possibly damaging	0.77
R6681:Sgsm2	UTSW	11	74865378	missense	probably damaging	0.99
R6722:Sgsm2	UTSW	11	74865424	missense	probably damaging	1.00
R6986:Sgsm2	UTSW	11	74892041	missense	probably damaging	1.00
R7205:Sgsm2	UTSW	11	74854493	missense	possibly damaging	0.88
R7209:Sgsm2	UTSW	11	74854325	missense	probably damaging	0.98
R7655:Sgsm2	UTSW	11	74865497	missense	probably damaging	1.00
R7656:Sgsm2	UTSW	11	74865497	missense	probably damaging	1.00

Posted On

2015-04-16