Mutagenetix > Incidental Mutation

Incidental Mutation 'R9184:Sgsm2'

697259

Institutional Source

Beutler Lab

Gene Symbol

Sgsm2

Ensembl Gene

ENSMUSG00000038351

Gene Name

small G protein signaling modulator 2

Synonyms

D630003G22Rik, Rutbc1

MMRRC Submission

068979-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R9184 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74740087-74787886 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74782834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 41 (I41F)

Ref Sequence

ENSEMBL: ENSMUSP00000050496 (fasta)

Gene Model

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

AlphaFold

Q80U12

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057631
AA Change: I41F

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351
AA Change: I41F

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

possibly damaging
Transcript: ENSMUST00000081799
AA Change: I41F

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351
AA Change: I41F

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: 99.4%

Validation Efficiency

97% (60/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	T	C	8: 107,233,901 (GRCm39)	V199A	unknown	Het
Abca7	A	G	10: 79,838,690 (GRCm39)	H621R	probably damaging	Het
Adam18	T	A	8: 25,137,847 (GRCm39)	N331I	probably benign	Het
Akt1	A	G	12: 112,621,152 (GRCm39)	S475P	possibly damaging	Het
Arc	A	G	15: 74,543,779 (GRCm39)	V148A	probably damaging	Het
Atg2a	T	C	19: 6,291,887 (GRCm39)	L21P	probably damaging	Het
Bltp2	T	C	11: 78,162,214 (GRCm39)	L692S	probably damaging	Het
C1qtnf2	T	C	11: 43,365,180 (GRCm39)	V25A	probably benign	Het
Cald1	G	T	6: 34,730,512 (GRCm39)	E244D	unknown	Het
Cdc42bpa	T	A	1: 179,972,301 (GRCm39)	F1368I	probably benign	Het
Cfap61	G	A	2: 145,919,308 (GRCm39)	C680Y	probably null	Het
Chd1	T	A	17: 15,962,551 (GRCm39)	N769K	possibly damaging	Het
Clasp1	T	A	1: 118,470,908 (GRCm39)	V848E	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Ctsb	G	T	14: 63,375,544 (GRCm39)	G170V	probably damaging	Het
Dnah5	A	G	15: 28,340,552 (GRCm39)	K2320E	probably benign	Het
Fat4	A	T	3: 39,036,592 (GRCm39)	I3415F	probably damaging	Het
Fibcd1	A	G	2: 31,706,488 (GRCm39)	S448P	probably damaging	Het
Filip1	T	C	9: 79,805,542 (GRCm39)	K71E	probably benign	Het
Gad2	G	A	2: 22,558,331 (GRCm39)	V350I	probably benign	Het
Gigyf2	T	A	1: 87,368,311 (GRCm39)	S1032T	possibly damaging	Het
Glis3	T	C	19: 28,509,007 (GRCm39)	T326A	probably damaging	Het
Hspa9	C	T	18: 35,082,168 (GRCm39)	R146H	possibly damaging	Het
Jakmip2	A	G	18: 43,715,352 (GRCm39)	I58T	probably benign	Het
Kcnk15	G	A	2: 163,700,606 (GRCm39)	V282M	probably benign	Het
Klk1b8	A	G	7: 43,602,158 (GRCm39)	N30S	probably benign	Het
Lpin2	T	A	17: 71,540,911 (GRCm39)	Y454*	probably null	Het
Mcam	T	C	9: 44,046,545 (GRCm39)		probably benign	Het
Mms22l	T	C	4: 24,596,182 (GRCm39)	L1047S	probably damaging	Het
Neb	A	G	2: 52,218,767 (GRCm39)	I81T	possibly damaging	Het
Neurod4	A	T	10: 130,106,958 (GRCm39)	D105E	probably damaging	Het
Nlrp1b	A	G	11: 71,072,067 (GRCm39)	L592P	probably damaging	Het
Nnt	C	A	13: 119,518,270 (GRCm39)	K302N	probably damaging	Het
Notch4	T	C	17: 34,806,364 (GRCm39)	F1767S	probably damaging	Het
Or4c103	C	A	2: 88,513,519 (GRCm39)	A186S	possibly damaging	Het
Or4c58	T	A	2: 89,675,294 (GRCm39)	I8F	probably benign	Het
Or7g16	T	C	9: 18,727,138 (GRCm39)	I151V	probably benign	Het
Pcdhga4	A	T	18: 37,820,460 (GRCm39)	I670F	possibly damaging	Het
Pdp1	T	C	4: 11,962,143 (GRCm39)	E75G	possibly damaging	Het
Pds5b	T	A	5: 150,724,249 (GRCm39)	N1275K	probably benign	Het
Pink1	G	T	4: 138,048,321 (GRCm39)	Q134K	probably benign	Het
Poli	T	A	18: 70,642,250 (GRCm39)	H650L	probably damaging	Het
Prickle2	G	A	6: 92,388,505 (GRCm39)	P355L	possibly damaging	Het
Prkaca	G	A	8: 84,717,305 (GRCm39)	G194D	probably benign	Het
Ptgs2	A	T	1: 149,980,175 (GRCm39)	Y371F	probably damaging	Het
Rarb	T	A	14: 16,818,882 (GRCm38)		probably benign	Het
Rarb	C	T	14: 16,818,881 (GRCm38)		probably benign	Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,878,292 (GRCm39)		probably benign	Het
Serpinb1b	T	G	13: 33,269,393 (GRCm39)	V42G	probably damaging	Het
Slc26a5	T	A	5: 22,018,880 (GRCm39)	D653V	probably damaging	Het
Slc26a7	C	T	4: 14,506,630 (GRCm39)	V602M	possibly damaging	Het
Slu7	T	C	11: 43,334,224 (GRCm39)	S417P	probably damaging	Het
Smad2	T	A	18: 76,422,171 (GRCm39)	D194E	probably benign	Het
Sntg1	A	T	1: 8,748,056 (GRCm39)	V112E	probably damaging	Het
Strip1	A	T	3: 107,521,979 (GRCm39)	M733K	probably benign	Het
Szt2	G	A	4: 118,241,726 (GRCm39)	S1655L	possibly damaging	Het
Ttn	A	T	2: 76,599,949 (GRCm39)	I19075N	probably benign	Het
Urb2	C	T	8: 124,771,890 (GRCm39)	T1437I	probably benign	Het
Vmn2r111	T	A	17: 22,790,822 (GRCm39)	I159F	probably benign	Het
Zfp78	T	C	7: 6,382,300 (GRCm39)	V450A	probably damaging	Het
Zmynd11	T	A	13: 9,743,475 (GRCm39)	H314L	probably benign	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
IGL03180:Sgsm2	APN	11	74,759,401 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TTGACACTTACTACACCAGGAGAC -3'
(R):5'- TGCTAGCCCGAGAGTGTAAC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- AACCCAGTGTCAGAGGGTTTGC -3'

Posted On

2022-02-07