Mutagenetix > Incidental Mutations

Incidental Mutation 'R0420:Sgsm1'

36975

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, 2410098H20Rik, D5Bwg1524e

MMRRC Submission

038622-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113243220-113310786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113263759 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 700 (N700K)

Ref Sequence

ENSEMBL: ENSMUSP00000046544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048112] [ENSMUST00000057209] [ENSMUST00000112325] [ENSMUST00000154248]

Predicted Effect

probably benign
Transcript: ENSMUST00000048112
AA Change: N700K

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: N700K

Domain	Start	End	E-Value	Type
RUN	127	187	6.52e-18	SMART
low complexity region	401	413	N/A	INTRINSIC
low complexity region	454	469	N/A	INTRINSIC
TBC	559	1053	2.88e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000057209
AA Change: N413K

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: N413K

Domain	Start	End	E-Value	Type
low complexity region	114	126	N/A	INTRINSIC
low complexity region	167	182	N/A	INTRINSIC
TBC	272	766	2.88e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112325

SMART Domains

Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216

Domain	Start	End	E-Value	Type
RUN	127	187	6.52e-18	SMART
low complexity region	401	413	N/A	INTRINSIC
low complexity region	454	469	N/A	INTRINSIC
SCOP:d1fkma1	539	615	1e-6	SMART
Blast:TBC	559	675	1e-71	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147856

Predicted Effect

probably benign
Transcript: ENSMUST00000154248

SMART Domains

Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216

Domain	Start	End	E-Value	Type
RUN	127	187	6.52e-18	SMART
low complexity region	401	413	N/A	INTRINSIC
low complexity region	509	524	N/A	INTRINSIC
SCOP:d1fkma1	594	670	9e-7	SMART
Blast:TBC	614	706	3e-55	BLAST

Meta Mutation Damage Score

0.0878

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.2%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415O20Rik	A	G	15: 98,571,094	S17G	probably benign	Het
Abcb4	T	C	5: 8,941,050	V870A	probably benign	Het
Adam6b	A	T	12: 113,489,994	M144L	probably benign	Het
Adrb2	T	A	18: 62,179,539	I72L	possibly damaging	Het
Ankrd53	A	T	6: 83,763,692	H99L	probably damaging	Het
Ap4e1	C	T	2: 127,049,360	T17M	probably damaging	Het
Arnt	T	A	3: 95,470,394		probably benign	Het
Atp1a3	C	T	7: 24,980,627	G884E	probably benign	Het
Atp6v1b1	T	C	6: 83,752,844		probably benign	Het
Atp8a2	G	T	14: 59,773,744	T971K	probably damaging	Het
BC048562	A	T	9: 108,445,966	T167S	probably benign	Het
Brd9	A	G	13: 73,955,473	M491V	probably benign	Het
Btnl10	A	T	11: 58,923,451	D319V	probably damaging	Het
Cadps	T	A	14: 12,491,800	R783S	probably damaging	Het
Ccdc149	A	G	5: 52,400,239		probably benign	Het
Ccm2l	A	T	2: 153,070,862	D107V	probably null	Het
Cep192	A	G	18: 67,813,893	E213G	possibly damaging	Het
Cyp2c37	A	C	19: 39,995,794	N242T	probably benign	Het
Dnah17	A	G	11: 118,039,939	V3750A	probably damaging	Het
Ehbp1	T	A	11: 22,151,836	I231L	probably benign	Het
Emilin3	A	G	2: 160,910,879		probably benign	Het
Eya4	T	C	10: 23,155,963	N254S	possibly damaging	Het
Fam184b	A	G	5: 45,584,512	S126P	probably damaging	Het
Fancd2	T	C	6: 113,536,979	L108P	probably damaging	Het
Fgf12	A	T	16: 28,162,529	M145K	possibly damaging	Het
Gabbr1	A	G	17: 37,046,762	N23S	possibly damaging	Het
Ggt1	T	A	10: 75,576,213		probably benign	Het
Gm1966	T	A	7: 106,603,883	L51F	probably damaging	Het
Gm6434	T	A	7: 25,882,361		noncoding transcript	Het
Gm6614	T	G	6: 141,985,477		probably benign	Het
Grik4	A	T	9: 42,622,096	L376*	probably null	Het
Gzf1	A	G	2: 148,683,833	T75A	probably benign	Het
Hcn1	T	C	13: 117,975,375	I625T	unknown	Het
Hhat	C	T	1: 192,552,934		probably null	Het
Ifit1bl1	T	C	19: 34,594,514	E181G	probably damaging	Het
Kif21a	T	C	15: 90,968,054		probably benign	Het
Lrrc45	A	C	11: 120,715,219	S118R	probably damaging	Het
Mcm9	T	C	10: 53,548,527	I656V	probably benign	Het
Ms4a5	A	G	19: 11,283,654	L47S	probably damaging	Het
Mynn	A	T	3: 30,607,459	N230I	probably benign	Het
Nck2	T	C	1: 43,554,118	S162P	probably damaging	Het
Nfat5	T	C	8: 107,367,461	F259S	probably damaging	Het
Obox1	T	G	7: 15,556,253	S174A	possibly damaging	Het
Ociad1	T	A	5: 73,313,429		probably null	Het
Pgbd1	A	T	13: 21,423,166	V286E	possibly damaging	Het
Phlpp2	T	C	8: 109,939,935	V1032A	probably damaging	Het
Ppm1e	C	T	11: 87,240,614	A318T	probably damaging	Het
Prex1	T	A	2: 166,589,571	D757V	probably benign	Het
Ptpdc1	C	A	13: 48,589,119		probably null	Het
Rbbp5	T	G	1: 132,493,844	I94R	possibly damaging	Het
Rnpc3	A	G	3: 113,621,869	V173A	probably benign	Het
Sox14	T	A	9: 99,875,122	H188L	probably damaging	Het
Supt5	T	A	7: 28,317,329		probably benign	Het
Synpo	A	G	18: 60,602,418	S819P	probably damaging	Het
Tenm2	A	G	11: 36,207,124		probably benign	Het
Tenm4	T	C	7: 96,873,766	V1468A	possibly damaging	Het
Tiam2	A	G	17: 3,502,918	N83S	probably benign	Het
Tle6	T	C	10: 81,595,311		probably benign	Het
Tm2d2	T	G	8: 25,018,114	N91K	probably damaging	Het
Tmem132d	T	G	5: 127,864,646	Q463H	probably benign	Het
Tmf1	A	G	6: 97,176,141	S324P	probably damaging	Het
Tnc	T	C	4: 64,000,159	T1172A	probably benign	Het
Usp17lb	A	T	7: 104,840,539	C393S	probably benign	Het
Usp42	G	A	5: 143,714,861	L1136F	probably damaging	Het
Vmn2r92	T	G	17: 18,168,921	M499R	probably benign	Het
Vps54	T	A	11: 21,311,071		probably benign	Het
Wdr6	C	T	9: 108,573,101	R1076H	probably benign	Het
Wdr72	T	A	9: 74,210,757	M917K	possibly damaging	Het
Wee2	T	C	6: 40,456,995	V281A	probably benign	Het
Zc3h6	A	G	2: 129,014,827	D609G	probably benign	Het
Zfp345	G	A	2: 150,473,243	H125Y	possibly damaging	Het
Zhx2	A	G	15: 57,821,840	K202E	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,476,364		probably benign	Het

Other mutations in Sgsm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Sgsm1	APN	5	113245064	missense	probably benign	0.00
IGL00503:Sgsm1	APN	5	113276142	missense	probably benign	0.00
IGL01377:Sgsm1	APN	5	113276182	splice site	probably benign
IGL01602:Sgsm1	APN	5	113285665	missense	possibly damaging	0.92
IGL01605:Sgsm1	APN	5	113285665	missense	possibly damaging	0.92
IGL01669:Sgsm1	APN	5	113263490	missense	probably benign
IGL01920:Sgsm1	APN	5	113273605	missense	probably damaging	1.00
IGL01951:Sgsm1	APN	5	113286767	splice site	probably benign
IGL02387:Sgsm1	APN	5	113253063	missense	possibly damaging	0.93
IGL02690:Sgsm1	APN	5	113286767	splice site	probably benign
IGL03177:Sgsm1	APN	5	113250993	missense	probably damaging	1.00
IGL03186:Sgsm1	APN	5	113285021	missense	probably benign	0.00
IGL03398:Sgsm1	APN	5	113255316	missense	possibly damaging	0.67
caliente	UTSW	5	113280462	intron	probably benign
Chili	UTSW	5	113258123	intron	probably benign
pimiento	UTSW	5	113263257	missense	probably benign	0.15
R0048:Sgsm1	UTSW	5	113268750	missense	probably damaging	1.00
R0058:Sgsm1	UTSW	5	113285087	missense	probably damaging	1.00
R0058:Sgsm1	UTSW	5	113285087	missense	probably damaging	1.00
R0082:Sgsm1	UTSW	5	113288836	missense	probably benign	0.01
R0085:Sgsm1	UTSW	5	113279270	splice site	probably benign
R0099:Sgsm1	UTSW	5	113274360	splice site	probably benign
R0269:Sgsm1	UTSW	5	113286929	critical splice acceptor site	probably null
R0310:Sgsm1	UTSW	5	113263705	missense	probably benign	0.00
R0325:Sgsm1	UTSW	5	113288835	missense	probably damaging	0.99
R0594:Sgsm1	UTSW	5	113310562	missense	probably benign	0.00
R0599:Sgsm1	UTSW	5	113245028	missense	probably damaging	1.00
R0631:Sgsm1	UTSW	5	113285123	splice site	probably benign
R0744:Sgsm1	UTSW	5	113279184	missense	probably benign	0.38
R0833:Sgsm1	UTSW	5	113279184	missense	probably benign	0.38
R0919:Sgsm1	UTSW	5	113258842	missense	probably damaging	1.00
R0944:Sgsm1	UTSW	5	113265874	missense	probably benign	0.40
R1169:Sgsm1	UTSW	5	113279485	missense	probably damaging	1.00
R1232:Sgsm1	UTSW	5	113273711	nonsense	probably null
R1473:Sgsm1	UTSW	5	113263257	missense	probably benign	0.15
R1535:Sgsm1	UTSW	5	113263269	missense	possibly damaging	0.93
R1796:Sgsm1	UTSW	5	113273617	missense	possibly damaging	0.58
R1878:Sgsm1	UTSW	5	113263515	missense	probably damaging	0.97
R2084:Sgsm1	UTSW	5	113285400	missense	probably damaging	1.00
R3855:Sgsm1	UTSW	5	113263259	missense	probably benign	0.01
R3856:Sgsm1	UTSW	5	113263259	missense	probably benign	0.01
R4294:Sgsm1	UTSW	5	113285404	missense	probably damaging	1.00
R4373:Sgsm1	UTSW	5	113258123	intron	probably benign
R4558:Sgsm1	UTSW	5	113258111	intron	probably benign
R4610:Sgsm1	UTSW	5	113255307	missense	probably damaging	1.00
R4667:Sgsm1	UTSW	5	113260047	critical splice donor site	probably null
R4838:Sgsm1	UTSW	5	113282626	missense	probably damaging	1.00
R4890:Sgsm1	UTSW	5	113280462	intron	probably benign
R4992:Sgsm1	UTSW	5	113282620	missense	possibly damaging	0.89
R5366:Sgsm1	UTSW	5	113251039	missense	possibly damaging	0.91
R5776:Sgsm1	UTSW	5	113250957	missense	probably damaging	1.00
R5813:Sgsm1	UTSW	5	113250956	missense	probably damaging	1.00
R6000:Sgsm1	UTSW	5	113286838	missense	probably damaging	1.00
R6354:Sgsm1	UTSW	5	113282656	missense	probably damaging	0.99
R6440:Sgsm1	UTSW	5	113279131	critical splice donor site	probably null
R6831:Sgsm1	UTSW	5	113280380	missense	probably damaging	0.97
R7307:Sgsm1	UTSW	5	113273646	missense	probably benign	0.00
R7309:Sgsm1	UTSW	5	113268846	intron	probably null
R7387:Sgsm1	UTSW	5	113263700	missense	probably damaging	1.00
R7439:Sgsm1	UTSW	5	113274321	missense	probably damaging	0.99
R7485:Sgsm1	UTSW	5	113279635	splice site	probably null
R7624:Sgsm1	UTSW	5	113274335	nonsense	probably null
R7632:Sgsm1	UTSW	5	113276082	missense	possibly damaging	0.54
R7669:Sgsm1	UTSW	5	113253024	missense	probably damaging	1.00
R7727:Sgsm1	UTSW	5	113274327	missense	possibly damaging	0.95
R7732:Sgsm1	UTSW	5	113266330	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- GGTCACTCTCAAGGCTATCTTGCAC -3'
(R):5'- GCAGATTCCATACCGAAGTCACTCC -3'

Sequencing Primer
(F):5'- TATCTTGCACGGCCAGC -3'
(R):5'- ATACCGAAGTCACTCCTGTTG -3'

Posted On

2013-05-09