Mutagenetix > Incidental Mutation

Incidental Mutation 'R9226:Sgsm2'

699873

Institutional Source

Beutler Lab

Gene Symbol

Sgsm2

Ensembl Gene

ENSMUSG00000038351

Gene Name

small G protein signaling modulator 2

Synonyms

D630003G22Rik, Rutbc1

MMRRC Submission

068960-MU

Accession Numbers

Essential gene?

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

Stock #

R9226 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74740087-74787886 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74748960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 567 (V567M)

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: V567M

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351
AA Change: V567M

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
AA Change: V612M

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351
AA Change: V612M

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (57/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 88,118,518 (GRCm39)	M1L	probably benign	Het
Adgrf4	C	A	17: 42,980,606 (GRCm39)	A160S	probably damaging	Het
Adgrl1	T	C	8: 84,656,426 (GRCm39)	V243A	possibly damaging	Het
Adgrl4	G	T	3: 151,198,064 (GRCm39)		probably null	Het
Alg8	A	G	7: 97,027,423 (GRCm39)	Y97C	probably damaging	Het
Ankrd12	T	A	17: 66,292,754 (GRCm39)	D893V	probably damaging	Het
Anxa6	T	A	11: 54,885,791 (GRCm39)	T385S	probably benign	Het
Art4	A	T	6: 136,831,365 (GRCm39)	C259S	probably damaging	Het
Ccer2	T	C	7: 28,456,561 (GRCm39)	S102P	possibly damaging	Het
Cdhr3	A	G	12: 33,132,320 (GRCm39)	F101S	probably damaging	Het
Ctdsp1	G	T	1: 74,434,735 (GRCm39)	G260W	probably damaging	Het
Cyp24a1	T	C	2: 170,338,277 (GRCm39)	Y89C	probably damaging	Het
Cyp2d34	T	C	15: 82,504,901 (GRCm39)	D53G	probably damaging	Het
Dnah7a	A	C	1: 53,560,326 (GRCm39)	I2115S	possibly damaging	Het
Exoc4	T	A	6: 33,895,359 (GRCm39)	I792N	possibly damaging	Het
Gm4353	A	G	7: 115,683,006 (GRCm39)	F192L	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Ift140	T	C	17: 25,317,839 (GRCm39)	V1441A	probably benign	Het
Ighv1-49	A	T	12: 115,019,073 (GRCm39)	C41S	probably damaging	Het
Lgalsl	A	T	11: 20,779,306 (GRCm39)	I113N	possibly damaging	Het
Lrp1b	T	C	2: 41,401,460 (GRCm39)	D398G		Het
Lrrc4b	A	G	7: 44,112,099 (GRCm39)	H657R	possibly damaging	Het
Map2k2	T	C	10: 80,955,193 (GRCm39)	V228A	possibly damaging	Het
Mdn1	A	G	4: 32,694,612 (GRCm39)	I1112V	probably benign	Het
Mipep	T	A	14: 61,068,692 (GRCm39)	M488K	possibly damaging	Het
Myo15b	A	G	11: 115,750,924 (GRCm39)	T565A		Het
Nfat5	T	C	8: 108,095,401 (GRCm39)	L1214P	probably damaging	Het
Nphp3	A	G	9: 103,885,328 (GRCm39)	T223A	probably benign	Het
Or10s1	A	G	9: 39,986,187 (GRCm39)	I199V	probably benign	Het
Or52s19	A	G	7: 103,008,092 (GRCm39)	M103T	probably damaging	Het
Pkn2	G	A	3: 142,499,709 (GRCm39)	R939W	probably damaging	Het
Pla2g4c	T	C	7: 13,059,671 (GRCm39)	C3R	possibly damaging	Het
Plxnd1	A	T	6: 115,934,524 (GRCm39)	I1803N	probably damaging	Het
Pygb	C	A	2: 150,662,781 (GRCm39)	H583N	possibly damaging	Het
Rbm20	A	G	19: 53,839,645 (GRCm39)	D878G	possibly damaging	Het
Rdx	C	A	9: 51,992,468 (GRCm39)	Q414K	probably benign	Het
Scara3	T	C	14: 66,169,233 (GRCm39)	E128G	possibly damaging	Het
Sel1l2	T	C	2: 140,097,222 (GRCm39)	Y361C	probably damaging	Het
Sfmbt2	T	C	2: 10,442,860 (GRCm39)	I179T	probably benign	Het
Sirt4	G	A	5: 115,618,372 (GRCm39)	T234M	probably damaging	Het
Stab1	T	G	14: 30,867,812 (GRCm39)	K1653Q	probably benign	Het
Strn4	T	C	7: 16,559,722 (GRCm39)		probably benign	Het
Stxbp5l	C	A	16: 37,076,206 (GRCm39)	S280I	probably damaging	Het
Tex30	G	A	1: 44,126,133 (GRCm39)	R199W	probably damaging	Het
Tjp3	A	C	10: 81,110,420 (GRCm39)	F731V	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmco3	A	G	8: 13,360,143 (GRCm39)		probably null	Het
Tmem94	C	A	11: 115,683,191 (GRCm39)	A658E	probably damaging	Het
Tnxb	T	A	17: 34,904,766 (GRCm39)	L1177Q	probably damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Upf2	T	A	2: 6,051,845 (GRCm39)	V1169D	unknown	Het
Usp20	C	A	2: 30,907,412 (GRCm39)	A648D	probably damaging	Het
Vmn2r108	T	G	17: 20,691,330 (GRCm39)	N398H	probably benign	Het
Whamm	A	T	7: 81,243,655 (GRCm39)	S626C	probably damaging	Het
Zbtb44	A	G	9: 30,975,524 (GRCm39)	S385G	possibly damaging	Het
Zfp580	C	T	7: 5,056,137 (GRCm39)	Q166*	probably null	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
R9184:Sgsm2	UTSW	11	74,782,834 (GRCm39)	missense	possibly damaging	0.63
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'- TGGAACTTCAGCCTAGAGGG -3'
(R):5'- AGGGTATGCCTAGGCTCAGTAC -3'

Sequencing Primer
(F):5'- TGACCTAGCGCTCATGAGGAC -3'
(R):5'- GTACAGCCACTAAAGCCCAGG -3'

Posted On

2022-02-07