Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02330:Sgsm2'

288621

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?

Possibly non essential (E-score: 0.291) question?

Stock #

IGL02330

Quality Score

Status

Chromosome

Chromosomal Location

74849261-74897060 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74858667 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 584 (T584A)

Ref Sequence

ENSEMBL: ENSMUSP00000080489 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000057631
AA Change: T539A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351
AA Change: T539A

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

probably benign
Transcript: ENSMUST00000081799
AA Change: T584A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351
AA Change: T584A

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	T	8: 55,872,363	I352K	probably benign	Het
Atp8a1	T	C	5: 67,813,177	N73S	probably damaging	Het
Cilp	T	C	9: 65,274,522		probably benign	Het
Csf2rb2	C	T	15: 78,285,128	G500D	possibly damaging	Het
Cyp4a14	A	C	4: 115,495,027		probably benign	Het
Dagla	T	G	19: 10,248,022	D926A	probably damaging	Het
Ddr2	T	A	1: 169,988,524	Y538F	probably damaging	Het
Eng	T	A	2: 32,669,569		probably null	Het
Fbxo24	G	T	5: 137,621,317	L99M	probably damaging	Het
Fmn2	A	G	1: 174,609,945	S1161G	probably benign	Het
Foxp1	T	C	6: 98,945,412	N453D	probably damaging	Het
Fut8	A	G	12: 77,450,243	D409G	probably damaging	Het
Hmces	A	G	6: 87,914,535	H8R	probably damaging	Het
Ing3	T	C	6: 21,952,121	C44R	probably benign	Het
Itga1	T	A	13: 115,012,204	I294F	probably damaging	Het
Mov10l1	T	A	15: 89,026,490	S976T	probably damaging	Het
Myo15	A	G	11: 60,477,161	Y249C	possibly damaging	Het
Nop56	T	C	2: 130,276,766	S273P	probably damaging	Het
Olfr50	C	T	2: 36,793,895	H220Y	probably benign	Het
Olfr514	A	T	7: 108,825,999		probably benign	Het
Otog	C	T	7: 46,288,069	S1734F	possibly damaging	Het
Phc3	T	G	3: 30,936,381	E562D	probably damaging	Het
Ralb	A	T	1: 119,471,720	C203S	probably damaging	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Sf3b4	A	T	3: 96,173,060	T42S	possibly damaging	Het
Slco5a1	T	C	1: 12,939,060	K397R	probably damaging	Het
Trim30c	A	G	7: 104,382,958	Y299H	possibly damaging	Het
Trip6	T	C	5: 137,313,358	D119G	probably benign	Het
Uap1	A	T	1: 170,150,327	I385N	possibly damaging	Het
Vmn1r123	T	A	7: 21,163,044	I287N	probably damaging	Het
Vwce	T	C	19: 10,646,801	L352P	possibly damaging	Het
Xrn1	T	A	9: 95,973,348	Y260*	probably null	Het
Zfp738	T	C	13: 67,671,431	Y147C	probably damaging	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
IGL02236:Sgsm2	APN	11	74859872	missense	probably damaging	1.00
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
R8526:Sgsm2	UTSW	11	74869021	missense	probably benign	0.17

Posted On

2015-04-16