Mutagenetix > Incidental Mutations

Incidental Mutation 'R4590:Sgsm2'

342765

Institutional Source

Beutler Lab

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: 0.331) question?

Stock #

R4590 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74849261-74897060 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74851132 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1011 (M1011V)

Ref Sequence

ENSEMBL: ENSMUSP00000080489 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000057631
AA Change: M966V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351
AA Change: M966V

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 damaging
Transcript: ENSMUST00000081799
AA Change: M1011V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351
AA Change: M1011V

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	T	A	18: 36,583,644	D201E	probably damaging	Het
Ano10	T	A	9: 122,257,165	Q398L	probably benign	Het
Ap3d1	A	T	10: 80,719,812	L319*	probably null	Het
BC003331	A	G	1: 150,386,352		probably null	Het
Cacna1e	T	C	1: 154,436,519	M1575V	possibly damaging	Het
Cep192	T	A	18: 67,816,791	Y315*	probably null	Het
Cndp2	C	A	18: 84,669,808	V353F	probably damaging	Het
Ctsq	T	A	13: 61,036,214	N298I	probably benign	Het
Dnah6	A	T	6: 73,152,712	C1173S	probably damaging	Het
Dnah9	T	C	11: 66,040,392	M1993V	probably damaging	Het
Dnhd1	T	C	7: 105,714,030	V3933A	probably damaging	Het
Dnpep	C	A	1: 75,316,401	V76L	probably damaging	Het
Dsc3	A	C	18: 19,989,695	C57W	probably damaging	Het
Dtx3	A	G	10: 127,192,695	S222P	probably damaging	Het
Eml5	T	C	12: 98,837,341	Y1009C	possibly damaging	Het
Fam169a	A	G	13: 97,097,585	I122V	probably benign	Het
Fgr	T	A	4: 132,995,053	V211E	probably damaging	Het
Flvcr1	T	C	1: 191,012,146	T402A	probably benign	Het
Frmd5	C	T	2: 121,765,031		probably null	Het
Fut2	T	C	7: 45,650,946	N134S	possibly damaging	Het
Gm10110	A	T	14: 89,897,546		noncoding transcript	Het
Gm7275	A	T	16: 48,073,619		noncoding transcript	Het
Gm904	T	A	13: 50,645,249	C81*	probably null	Het
Herc1	T	A	9: 66,437,664	V1913E	probably damaging	Het
Hnmt	T	C	2: 24,019,099		probably null	Het
Ift172	T	C	5: 31,253,955	E1643G	probably damaging	Het
Inpp4b	T	A	8: 81,741,411	M1K	probably null	Het
Keap1	G	T	9: 21,237,609	A34D	probably damaging	Het
Krt25	T	C	11: 99,318,028		probably benign	Het
Lama2	A	G	10: 26,989,414	V2916A	probably benign	Het
Ly9	G	A	1: 171,593,875	Q603*	probably null	Het
Mis18bp1	A	C	12: 65,158,506	N14K	possibly damaging	Het
Mmrn1	G	T	6: 60,960,813	C265F	probably damaging	Het
Mrgprb5	C	T	7: 48,168,061	E309K	probably benign	Het
Nrtn	T	C	17: 56,751,504	T166A	probably damaging	Het
Olfr150	T	C	9: 39,736,850	F12L	probably damaging	Het
Osbpl7	T	A	11: 97,056,272	S266R	probably damaging	Het
Pcdhb11	T	C	18: 37,422,496	I293T	probably damaging	Het
Pes1	A	G	11: 3,977,986	Y546C	probably damaging	Het
Pth1r	A	T	9: 110,722,271	W587R	probably benign	Het
Rasgrf2	A	G	13: 92,038,281	Y147H	probably damaging	Het
Rbbp8	T	A	18: 11,732,265	L737*	probably null	Het
Rcor3	A	T	1: 192,125,917	F153L	probably damaging	Het
Rev3l	G	A	10: 39,806,933	C349Y	probably damaging	Het
Rnf115	C	T	3: 96,788,573	T225M	probably benign	Het
Rnf157	A	G	11: 116,359,272	V200A	probably damaging	Het
Scfd2	T	C	5: 74,212,256	T653A	probably benign	Het
Sdccag8	T	C	1: 176,948,292	Y590H	probably damaging	Het
Sema4d	T	A	13: 51,723,618	K59N	probably benign	Het
Serpinb7	C	A	1: 107,451,833	H323Q	probably damaging	Het
Setx	T	A	2: 29,144,809	H435Q	probably damaging	Het
Sgk3	T	C	1: 9,898,795	S466P	possibly damaging	Het
Ssc4d	G	A	5: 135,964,684	P106L	probably benign	Het
Taf7	T	C	18: 37,642,731	Q261R	possibly damaging	Het
Tbc1d2b	T	C	9: 90,270,500	K71R	possibly damaging	Het
Tff3	C	T	17: 31,129,534	V15I	probably benign	Het
Tgfb3	C	A	12: 86,077,815	V40L	possibly damaging	Het
Timm10	T	A	2: 84,827,648	D2E	possibly damaging	Het
Ttc16	T	A	2: 32,773,741	N74I	probably damaging	Het
Ttll1	G	A	15: 83,497,345	T241I	probably damaging	Het
Uba6	T	A	5: 86,112,744	D992V	probably damaging	Het
Vmn1r25	T	A	6: 57,978,495	T270S	probably benign	Het
Vmn2r106	T	C	17: 20,277,466	I504V	probably damaging	Het
Vmn2r87	G	T	10: 130,479,145	H191N	possibly damaging	Het
Vnn1	C	A	10: 23,899,405	F184L	possibly damaging	Het
Vtn	A	T	11: 78,502,206	I466F	probably damaging	Het
Zfp352	A	C	4: 90,224,535	D304A	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTGCTGTGCTCTTGATAC -3'
(R):5'- GGAGCATCTGCAGAGATAGC -3'

Sequencing Primer
(F):5'- GATACCTCCTATGCGAAGTGATC -3'
(R):5'- GATGGATTCCCCCATTCTGGAG -3'

Posted On

2015-09-24