Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02352:Sgsm2'

289545

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: 0.289) question?

Stock #

IGL02352

Quality Score

Status

Chromosome

Chromosomal Location

74849261-74897060 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 74892074 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000080489 (fasta)

Gene Model

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

AlphaFold

Q80U12

Predicted Effect

probably benign
Transcript: ENSMUST00000057631

SMART Domains

Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351

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

SMART Domains

Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	C	12: 72,895,055		probably null	Het
Abca5	T	A	11: 110,275,330	N1540I	probably benign	Het
Adamtsl5	T	A	10: 80,343,728		probably null	Het
Aldh2	T	C	5: 121,575,897	E128G	probably null	Het
Anln	A	G	9: 22,368,412	V494A	probably benign	Het
Ano3	A	T	2: 110,884,943	L50*	probably null	Het
Atp13a3	A	G	16: 30,351,084	I392T	probably damaging	Het
C1qtnf5	A	G	9: 44,108,334	E85G	possibly damaging	Het
Cacna1s	A	T	1: 136,093,252		probably benign	Het
Ccdc150	G	A	1: 54,272,521	R222H	probably benign	Het
Cdk5rap3	A	T	11: 96,916,177	I9N	probably damaging	Het
Cmip	A	T	8: 117,411,255		probably benign	Het
Cyp21a1	A	G	17: 34,804,222	Y60H	probably damaging	Het
Cyp2d11	A	G	15: 82,393,920	W10R	possibly damaging	Het
Dock10	A	G	1: 80,505,661	Y2076H	probably damaging	Het
Egflam	T	C	15: 7,234,225	N748S	probably benign	Het
Fam227b	A	G	2: 126,146,254		probably benign	Het
Fancd2	T	A	6: 113,563,112	I654N	probably damaging	Het
Gm17018	G	T	19: 45,577,054	A156S	probably benign	Het
Gm17727	A	T	9: 35,777,884	M1K	probably null	Het
Hpf1	A	G	8: 60,896,802	I155V	probably benign	Het
Hrh1	C	A	6: 114,480,443	N228K	probably benign	Het
Igkv3-2	T	C	6: 70,698,490	L8P	probably damaging	Het
Iqgap3	T	C	3: 88,101,960	F734L	probably benign	Het
Kif5a	T	C	10: 127,243,501	Y276C	probably damaging	Het
Lax1	A	T	1: 133,680,470	S178T	possibly damaging	Het
March6	C	T	15: 31,509,759	C28Y	probably damaging	Het
Mylk3	T	C	8: 85,355,302	T356A	probably benign	Het
Obscn	T	C	11: 59,001,027	E6893G	probably benign	Het
Olfr166	T	C	16: 19,487,177	L113P	probably damaging	Het
Pgap2	G	T	7: 102,236,139	V71F	probably damaging	Het
Prob1	T	G	18: 35,652,840	E787A	possibly damaging	Het
Psmd2	C	A	16: 20,656,941	D430E	probably benign	Het
Reln	C	A	5: 22,039,565	G805V	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,820		probably benign	Het
Slc38a9	A	G	13: 112,690,186	I153V	probably benign	Het
Slco1b2	T	A	6: 141,685,525	D628E	probably damaging	Het
Sult2a5	T	C	7: 13,628,802	S145P	probably benign	Het
Sv2b	T	C	7: 75,136,449	T408A	probably benign	Het
Usp24	T	C	4: 106,403,925	C1626R	probably damaging	Het
Wdr43	C	T	17: 71,632,048	T217M	possibly damaging	Het
Wdr95	G	A	5: 149,580,619	V155M	probably damaging	Het
Wsb1	G	A	11: 79,251,012	L60F	probably damaging	Het
Wwp2	C	T	8: 107,540,646	R297*	probably null	Het
Xkr6	T	C	14: 63,819,707	Y356H	unknown	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
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
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

Posted On

2015-04-16