Mutagenetix > Incidental Mutation

Incidental Mutation 'R6722:Sgsm2'

529647

Institutional Source

Beutler Lab

Gene Symbol

Sgsm2

Ensembl Gene

ENSMUSG00000038351

Gene Name

small G protein signaling modulator 2

Synonyms

D630003G22Rik, Rutbc1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R6722 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74849261-74897060 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 74865424 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 366 (C366W)

Ref Sequence

ENSEMBL: ENSMUSP00000080489 (fasta)

Gene Model

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

AlphaFold

Q80U12

Predicted Effect

probably damaging
Transcript: ENSMUST00000057631
AA Change: C366W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351
AA Change: C366W

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: C366W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351
AA Change: C366W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184562

Meta Mutation Damage Score

0.9116

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

96% (52/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	G	12: 81,421,454	D131A	probably damaging	Het
Ank3	T	C	10: 69,990,244		probably benign	Het
Arntl2	T	A	6: 146,818,900	D187E	probably damaging	Het
Atp1a4	T	C	1: 172,258,050		probably benign	Het
BC005561	T	A	5: 104,520,279	M889K	probably damaging	Het
Ccdc162	T	C	10: 41,644,641	N673S	probably benign	Het
Cd84	G	A	1: 171,872,777	V154M	probably damaging	Het
Celsr1	C	A	15: 85,905,914		probably null	Het
Cfap57	A	C	4: 118,584,717	L718R	probably damaging	Het
Cntnap5b	G	A	1: 100,478,486	V803M	probably damaging	Het
Col6a2	C	T	10: 76,614,558	V180I	probably damaging	Het
Coq4	A	T	2: 29,788,285		probably benign	Het
Cyp2a4	A	G	7: 26,313,558	T389A	probably benign	Het
Dennd1c	T	C	17: 57,066,802	D587G	probably benign	Het
Dnaja4	A	G	9: 54,699,754	D9G	probably damaging	Het
Gatsl2	T	C	5: 134,135,619	S140P	probably benign	Het
Gm11808	A	G	4: 3,973,386	Y59H	probably benign	Het
Hes2	T	G	4: 152,160,377	L101R	probably damaging	Het
Icam2	A	G	11: 106,382,481	S2P	probably damaging	Het
Krt31	A	G	11: 100,048,428	L221P	probably damaging	Het
Lipm	A	T	19: 34,121,265	N380Y	probably benign	Het
Lrp2bp	G	A	8: 46,020,563		probably null	Het
Mbd2	T	A	18: 70,580,748	M216K	probably damaging	Het
Mrps33	T	C	6: 39,805,665		probably benign	Het
Nbeal2	T	C	9: 110,632,992	D1459G	probably damaging	Het
Ncapd3	T	C	9: 27,087,556	S1281P	probably benign	Het
Nt5c1b	T	A	12: 10,372,874	Y56N	possibly damaging	Het
Nthl1	A	G	17: 24,634,034	K71E	probably benign	Het
Olfr1318	T	A	2: 112,156,882	N310K	probably benign	Het
Parvb	C	T	15: 84,297,979	R237W	probably damaging	Het
Pde4a	G	A	9: 21,211,225	A806T	probably damaging	Het
Pde4d	C	A	13: 109,632,898	S40*	probably null	Het
Pde4dip	G	A	3: 97,718,239	R1348*	probably null	Het
Pdx1	C	T	5: 147,270,500	P88S	probably damaging	Het
Pnisr	T	A	4: 21,859,165	V120D	probably damaging	Het
Prss51	G	T	14: 64,095,059	C65F	probably damaging	Het
Pus10	G	A	11: 23,702,975	E195K	possibly damaging	Het
Pzp	T	A	6: 128,487,954	Q1319L	probably damaging	Het
Rbpms	G	T	8: 33,834,393	T101K	probably damaging	Het
Rundc3a	A	G	11: 102,399,949	N281S	possibly damaging	Het
Scml4	C	T	10: 42,860,732		probably benign	Het
Sez6	T	C	11: 77,953,702	V117A	probably damaging	Het
Slc12a4	T	C	8: 105,944,250		probably null	Het
Smg5	C	T	3: 88,353,025	R641C	probably damaging	Het
Stxbp3	A	G	3: 108,816,446	Y150H	probably benign	Het
Tkt	T	C	14: 30,569,084	F351S	probably damaging	Het
Tln1	A	G	4: 43,547,618	L781P	probably damaging	Het
Triobp	G	A	15: 79,001,565	E1823K	probably damaging	Het
Ttll4	T	C	1: 74,681,789	V538A	possibly damaging	Het
Vmn1r61	T	A	7: 5,610,688	N209I	possibly damaging	Het
Wdr75	T	A	1: 45,805,352		probably null	Het
Zfp985	T	C	4: 147,583,071	V132A	probably benign	Het
Zswim3	T	A	2: 164,820,624		probably null	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
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
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
R9112:Sgsm2	UTSW	11	74865396	nonsense	probably null
R9184:Sgsm2	UTSW	11	74892008	missense	possibly damaging	0.63
R9226:Sgsm2	UTSW	11	74858134	missense	possibly damaging	0.72
R9391:Sgsm2	UTSW	11	74853804	missense	probably damaging	1.00
R9458:Sgsm2	UTSW	11	74868731	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- AAGCAAATGGTCAGGCTGTC -3'
(R):5'- GCCTGGGAAATCTCACCTGTTG -3'

Sequencing Primer
(F):5'- CAAATGGTCAGGCTGTCCAGTG -3'
(R):5'- AAATCTCACCTGTTGGGCCAG -3'

Posted On

2018-08-01