Mutagenetix > Incidental Mutation

Incidental Mutation 'R9112:Sgsm2'

692317

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?

Probably non essential (E-score: 0.183) question?

Stock #

R9112 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74849261-74897060 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 74865396 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 376 (Q376*)

Ref Sequence

ENSEMBL: ENSMUSP00000050496 (fasta)

Gene Model

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

AlphaFold

Q80U12

Predicted Effect

probably null
Transcript: ENSMUST00000057631
AA Change: Q376*

SMART Domains

Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351
AA Change: Q376*

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
AA Change: Q376*

SMART Domains

Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351
AA Change: Q376*

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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
2310033P09Rik	A	G	11: 59,209,980	S181G	possibly damaging	Het
5730596B20Rik	A	G	6: 52,179,433	R160G	unknown	Het
Acy1	A	G	9: 106,434,753	Y262H	probably benign	Het
Adamts13	T	C	2: 26,990,367	S681P	possibly damaging	Het
Adgra3	C	A	5: 49,961,053	C1051F	probably damaging	Het
Afp	T	C	5: 90,504,430		probably null	Het
Agrn	A	T	4: 156,177,057	V568E	probably damaging	Het
Ahnak	A	G	19: 9,009,785	E2811G	probably damaging	Het
Ap1m1	C	A	8: 72,240,222	Y7*	probably null	Het
Apobec1	T	A	6: 122,578,878	T207S	probably benign	Het
Arhgap32	G	A	9: 32,246,013	R102Q	probably damaging	Het
Bcat2	T	C	7: 45,588,022		probably null	Het
Cd209f	T	A	8: 4,105,802		probably benign	Het
Cox7c	G	A	13: 86,046,718		probably benign	Het
Cyp2d11	A	G	15: 82,392,002	V156A	possibly damaging	Het
Dhrs3	A	T	4: 144,927,199	T297S	probably benign	Het
Dip2c	T	C	13: 9,610,730	C876R	probably damaging	Het
Eprs	A	T	1: 185,397,076	I587F	probably damaging	Het
Fam13c	A	G	10: 70,451,148	T81A	probably benign	Het
Fam71d	T	C	12: 78,710,428		probably null	Het
Flt4	A	G	11: 49,633,237	Y548C	probably damaging	Het
Gimap4	T	A	6: 48,690,695	V128E	probably benign	Het
Gm10436	C	T	12: 88,177,285	A261T	possibly damaging	Het
Gm156	T	A	6: 129,766,734	I196F	probably benign	Het
Gm32742	A	G	9: 51,149,435	L856P	possibly damaging	Het
Gm5916	A	G	9: 36,120,962	Y59H	probably damaging	Het
Gnai3	A	T	3: 108,123,674	H57Q		Het
Golga3	G	T	5: 110,185,891	R131L	probably benign	Het
Gpc6	A	T	14: 117,186,676	I59F	probably benign	Het
Herc6	T	C	6: 57,619,619	S515P	probably damaging	Het
Hist1h2be	T	C	13: 23,585,770	M63V	possibly damaging	Het
Ift74	T	C	4: 94,686,866	I518T	probably benign	Het
Kat6b	T	C	14: 21,625,188	S474P	possibly damaging	Het
Kdelc2	A	G	9: 53,384,230	Y44C	probably damaging	Het
Klhl3	A	C	13: 58,100,398	I28S	unknown	Het
Lipi	A	G	16: 75,562,271	F259S	probably damaging	Het
Lrrc8a	T	A	2: 30,255,770	S199T	probably damaging	Het
Map2	T	A	1: 66,433,564	C1709*	probably null	Het
Mrgprf	A	G	7: 145,307,766	S22G	probably benign	Het
Myo1e	G	T	9: 70,367,701	R712L	probably benign	Het
Nras	A	T	3: 103,060,342	N85Y	probably benign	Het
Olfr1243	C	T	2: 89,527,993	C139Y	probably damaging	Het
Olfr1469	A	T	19: 13,411,111	I181F	probably benign	Het
Olfr1497	T	C	19: 13,795,416	H65R	probably damaging	Het
Olfr522	A	G	7: 140,162,747	S68P		Het
Pigv	T	C	4: 133,664,768	R364G	probably benign	Het
Plekhh3	T	A	11: 101,170,799	S30C	probably damaging	Het
Pramef6	A	C	4: 143,896,764	V280G	possibly damaging	Het
Rufy3	A	T	5: 88,632,477	E361D		Het
Serpina1b	T	C	12: 103,732,440	D50G	probably benign	Het
Slc18b1	A	T	10: 23,816,364	I246F	probably damaging	Het
Slc38a9	A	T	13: 112,714,243	N387I	probably damaging	Het
Synrg	C	G	11: 83,971,583	P35A	probably damaging	Het
Tdrp	T	C	8: 13,955,796	K42E	probably damaging	Het
Trappc10	A	C	10: 78,193,367	M1112R	probably damaging	Het
Ube2e1	A	G	14: 18,285,203	V90A	probably damaging	Het
Vwde	C	A	6: 13,205,052	V277F	possibly damaging	Het
Zfyve16	A	G	13: 92,523,055	M116T	possibly 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
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
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'- AATGGTCAGGCTGTCCAGTG -3'
(R):5'- TTCCTAGCCTGGGAAATCTCAC -3'

Sequencing Primer
(F):5'- GTGTGCAGTCCCACCCAAAG -3'
(R):5'- AGCCTGGGAAATCTCACCTGTTG -3'

Posted On

2021-12-30