Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03180:Sgsm2'

412213

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

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

IGL03180

Quality Score

Status

Chromosome

Chromosomal Location

74740087-74787886 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 74759401 bp (GRCm39)

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 null
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 null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184562

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,082,951 (GRCm39)	Y321H	probably benign	Het
Adam28	T	A	14: 68,874,883 (GRCm39)	I265L	probably damaging	Het
Adcy8	T	C	15: 64,655,799 (GRCm39)	D560G	possibly damaging	Het
Aff3	A	G	1: 38,574,743 (GRCm39)	M79T	probably damaging	Het
Ahctf1	A	G	1: 179,602,895 (GRCm39)		probably null	Het
Aspn	C	T	13: 49,716,991 (GRCm39)	R256W	probably damaging	Het
Birc6	T	C	17: 74,966,226 (GRCm39)	V4051A	probably benign	Het
Cfap46	G	A	7: 139,183,168 (GRCm39)	L2584F	unknown	Het
Chdh	T	A	14: 29,756,559 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,433,255 (GRCm39)	T245A	probably benign	Het
Clec4a1	G	A	6: 122,901,777 (GRCm39)	V70I	probably benign	Het
Cpt2	A	T	4: 107,764,157 (GRCm39)	S536T	probably damaging	Het
Dnah9	A	T	11: 65,777,465 (GRCm39)	H3694Q	probably damaging	Het
Dntt	T	A	19: 41,017,990 (GRCm39)	F38Y	probably benign	Het
Dync2i1	T	C	12: 116,182,485 (GRCm39)	S706G	probably benign	Het
Eif4ebp2	T	C	10: 61,269,589 (GRCm39)	E117G	probably damaging	Het
Eif5b	T	C	1: 38,075,350 (GRCm39)	I609T	probably damaging	Het
Esam	G	A	9: 37,445,866 (GRCm39)	G135S	probably damaging	Het
Fut7	C	A	2: 25,315,465 (GRCm39)	A241D	possibly damaging	Het
Grin2d	T	A	7: 45,502,753 (GRCm39)	K706M	probably damaging	Het
Grip2	A	G	6: 91,762,742 (GRCm39)		probably benign	Het
Gtf2ird2	A	G	5: 134,220,087 (GRCm39)	T22A	probably damaging	Het
Hadh	T	C	3: 131,065,533 (GRCm39)	I42V	probably benign	Het
Iqsec3	T	A	6: 121,390,467 (GRCm39)		probably benign	Het
Izumo3	G	A	4: 92,034,524 (GRCm39)		probably benign	Het
Ldlrad1	G	T	4: 107,075,032 (GRCm39)	C193F	probably damaging	Het
Lgals4	G	A	7: 28,537,053 (GRCm39)	G118R	probably damaging	Het
Map4k1	A	C	7: 28,687,510 (GRCm39)	E136A	probably damaging	Het
Mapk8ip1	G	T	2: 92,217,257 (GRCm39)	P346Q	possibly damaging	Het
Mrtfb	A	G	16: 13,216,196 (GRCm39)	K303E	probably damaging	Het
Nlrp14	T	A	7: 106,781,833 (GRCm39)	H343Q	probably benign	Het
Ogg1	T	G	6: 113,310,455 (GRCm39)		probably null	Het
Or12k8	C	T	2: 36,975,722 (GRCm39)	V13M	possibly damaging	Het
Or5m10	A	T	2: 85,717,740 (GRCm39)	M199L	probably benign	Het
Pacc1	G	T	1: 191,071,089 (GRCm39)	V82F	probably damaging	Het
Pafah1b1	A	T	11: 74,574,344 (GRCm39)	C281S	possibly damaging	Het
Papss1	C	T	3: 131,313,143 (GRCm39)	R386W	probably damaging	Het
Pex5	A	G	6: 124,390,522 (GRCm39)		probably benign	Het
Pibf1	C	A	14: 99,370,780 (GRCm39)	Q261K	probably benign	Het
Plcb3	T	C	19: 6,933,521 (GRCm39)	S935G	probably benign	Het
Polg	A	G	7: 79,101,601 (GRCm39)		probably benign	Het
Ptpdc1	G	A	13: 48,739,553 (GRCm39)	T626I	probably damaging	Het
Rab34	A	T	11: 78,081,144 (GRCm39)	Y87F	probably damaging	Het
Rsrc1	T	G	3: 66,989,876 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,583,449 (GRCm39)	N4735S	possibly damaging	Het
Scn7a	T	C	2: 66,506,578 (GRCm39)	D1437G	possibly damaging	Het
Sdk1	A	G	5: 142,071,497 (GRCm39)	E1229G	probably damaging	Het
Sez6l	A	T	5: 112,584,151 (GRCm39)	V806D	probably damaging	Het
Sla	A	G	15: 66,661,569 (GRCm39)	I121T	probably benign	Het
Son	T	C	16: 91,453,896 (GRCm39)	L881S	probably damaging	Het
Srms	A	G	2: 180,854,573 (GRCm39)		probably benign	Het
Stoml1	T	C	9: 58,168,200 (GRCm39)	S304P	probably damaging	Het
Stt3a	T	C	9: 36,670,552 (GRCm39)	D73G	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Trp53i13	T	C	11: 77,403,528 (GRCm39)		probably benign	Het
Vmn2r77	A	G	7: 86,450,843 (GRCm39)	Y243C	possibly damaging	Het
Vwde	T	C	6: 13,205,764 (GRCm39)	D261G	probably damaging	Het
Zfpm2	A	G	15: 40,964,790 (GRCm39)	K293R	probably damaging	Het

Other mutations in Sgsm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01469:Sgsm2	APN	11	74,744,697 (GRCm39)	missense	possibly damaging	0.91
IGL02164:Sgsm2	APN	11	74,756,242 (GRCm39)	missense	possibly damaging	0.90
IGL02236:Sgsm2	APN	11	74,750,698 (GRCm39)	missense	probably damaging	1.00
IGL02330:Sgsm2	APN	11	74,749,493 (GRCm39)	missense	probably benign	0.01
IGL02352:Sgsm2	APN	11	74,782,900 (GRCm39)	splice site	probably benign
IGL02359:Sgsm2	APN	11	74,782,900 (GRCm39)	splice site	probably benign
IGL03061:Sgsm2	APN	11	74,741,962 (GRCm39)	missense	probably damaging	1.00
R0208:Sgsm2	UTSW	11	74,759,067 (GRCm39)	missense	probably damaging	1.00
R0433:Sgsm2	UTSW	11	74,749,016 (GRCm39)	splice site	probably null
R0517:Sgsm2	UTSW	11	74,758,477 (GRCm39)	missense	possibly damaging	0.62
R0755:Sgsm2	UTSW	11	74,756,323 (GRCm39)	missense	probably damaging	1.00
R1439:Sgsm2	UTSW	11	74,759,964 (GRCm39)	missense	probably benign	0.34
R1527:Sgsm2	UTSW	11	74,744,674 (GRCm39)	nonsense	probably null
R1713:Sgsm2	UTSW	11	74,787,652 (GRCm39)	missense	probably null	0.04
R1962:Sgsm2	UTSW	11	74,782,854 (GRCm39)	missense	probably damaging	1.00
R2189:Sgsm2	UTSW	11	74,743,908 (GRCm39)	missense	probably damaging	1.00
R4259:Sgsm2	UTSW	11	74,782,854 (GRCm39)	missense	probably damaging	1.00
R4261:Sgsm2	UTSW	11	74,782,854 (GRCm39)	missense	probably damaging	1.00
R4408:Sgsm2	UTSW	11	74,742,592 (GRCm39)	missense	probably damaging	0.99
R4590:Sgsm2	UTSW	11	74,741,958 (GRCm39)	missense	probably damaging	1.00
R6137:Sgsm2	UTSW	11	74,741,677 (GRCm39)	missense	probably damaging	1.00
R6162:Sgsm2	UTSW	11	74,782,847 (GRCm39)	missense	probably damaging	1.00
R6457:Sgsm2	UTSW	11	74,755,995 (GRCm39)	missense	possibly damaging	0.77
R6681:Sgsm2	UTSW	11	74,756,204 (GRCm39)	missense	probably damaging	0.99
R6722:Sgsm2	UTSW	11	74,756,250 (GRCm39)	missense	probably damaging	1.00
R6986:Sgsm2	UTSW	11	74,782,867 (GRCm39)	missense	probably damaging	1.00
R7205:Sgsm2	UTSW	11	74,745,319 (GRCm39)	missense	possibly damaging	0.88
R7209:Sgsm2	UTSW	11	74,745,151 (GRCm39)	missense	probably damaging	0.98
R7655:Sgsm2	UTSW	11	74,756,323 (GRCm39)	missense	probably damaging	1.00
R7656:Sgsm2	UTSW	11	74,756,323 (GRCm39)	missense	probably damaging	1.00
R8526:Sgsm2	UTSW	11	74,759,847 (GRCm39)	missense	probably benign	0.17
R9112:Sgsm2	UTSW	11	74,756,222 (GRCm39)	nonsense	probably null
R9184:Sgsm2	UTSW	11	74,782,834 (GRCm39)	missense	possibly damaging	0.63
R9226:Sgsm2	UTSW	11	74,748,960 (GRCm39)	missense	possibly damaging	0.72
R9391:Sgsm2	UTSW	11	74,744,630 (GRCm39)	missense	probably damaging	1.00
R9458:Sgsm2	UTSW	11	74,759,557 (GRCm39)	missense	possibly damaging	0.47

Posted On

2016-08-02