Mutagenetix > Incidental Mutation

Incidental Mutation 'R7307:Sgsm1'

567303

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, 2410098H20Rik, D5Bwg1524e

MMRRC Submission

045366-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113243220-113310786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113273646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 525 (D525G)

Ref Sequence

ENSEMBL: ENSMUSP00000046544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048112] [ENSMUST00000057209] [ENSMUST00000112324] [ENSMUST00000112325] [ENSMUST00000154248]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048112
AA Change: D525G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: D525G

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: D238G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: D238G

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: ENSMUST00000112324

SMART Domains

Protein: ENSMUSP00000107943
Gene: ENSMUSG00000042216

Domain	Start	End	E-Value	Type
low complexity region	114	126	N/A	INTRINSIC
low complexity region	167	182	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112325
AA Change: D525G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216
AA Change: D525G

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

probably benign
Transcript: ENSMUST00000154248
AA Change: D580G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216
AA Change: D580G

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

0.2496

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 17,118,395	P155L	probably benign	Het
Adamts12	G	T	15: 11,217,813	L285F	probably damaging	Het
Ankrd6	A	T	4: 32,816,949	Y393N	possibly damaging	Het
Arhgap45	A	G	10: 80,029,182	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,347,120		probably null	Het
B4galnt3	T	C	6: 120,215,431	D448G	probably benign	Het
Capn1	C	G	19: 5,993,908	E564D	possibly damaging	Het
Ccdc85a	A	G	11: 28,399,384	S474P	probably benign	Het
Cdk12	T	A	11: 98,249,800	L1289*	probably null	Het
Cramp1l	A	T	17: 24,974,745	N920K	possibly damaging	Het
Cubn	C	T	2: 13,340,332	S2091N	probably damaging	Het
Ddx1	A	T	12: 13,223,959	I581N	probably damaging	Het
Dnm2	A	T	9: 21,485,687	N487Y	probably damaging	Het
Enc1	A	C	13: 97,245,093	N37T	probably damaging	Het
Ephb3	T	G	16: 21,222,226	I932S	probably benign	Het
Frk	T	A	10: 34,591,938	M316K	probably damaging	Het
Gdap2	C	T	3: 100,202,033	R25C	unknown	Het
Gm10436	A	C	12: 88,181,749	C32W	probably damaging	Het
Gpat2	T	A	2: 127,434,890	D671E	probably damaging	Het
Gpr179	C	T	11: 97,338,846	E828K	probably benign	Het
Greb1l	T	C	18: 10,538,142	Y1052H	probably damaging	Het
Gtf2f1	C	T	17: 57,007,833	S69N	probably damaging	Het
Hid1	A	C	11: 115,348,482	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,343,081	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,619,769	F120L	probably damaging	Het
Kif16b	C	T	2: 142,712,931	R649Q	probably benign	Het
Kif17	A	T	4: 138,262,643	E47D	probably benign	Het
Kmt2b	T	C	7: 30,580,471	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,849,418	S3342T	unknown	Het
Krt82	A	G	15: 101,542,907	C356R	probably damaging	Het
Lrit2	A	G	14: 37,072,199	K407E	probably benign	Het
Malt1	T	A	18: 65,451,569	H325Q	possibly damaging	Het
Mccc2	T	G	13: 99,988,600	D187A	possibly damaging	Het
Mgll	T	A	6: 88,814,121		probably null	Het
Mindy2	T	G	9: 70,610,959	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,842,294	V96M	unknown	Het
Nlrp4e	A	G	7: 23,321,528	E480G	probably benign	Het
Nup98	A	G	7: 102,134,795	I1093T	probably benign	Het
Olfr1288	A	T	2: 111,478,760		probably benign	Het
Olfr243	G	T	7: 103,716,966	R124L	probably damaging	Het
Olfr350	G	A	2: 36,850,125	M26I	probably benign	Het
Olfr541	G	A	7: 140,705,147	V299I	probably benign	Het
Pcdhb6	A	T	18: 37,335,478	H484L	probably benign	Het
Phldb1	T	C	9: 44,694,047	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 72,070,964	A275D	probably damaging	Het
Polr2a	A	T	11: 69,747,292		probably null	Het
Polr3a	A	G	14: 24,459,987	C960R	probably benign	Het
Pou6f2	G	A	13: 18,239,713	A159V		Het
Pramef6	A	C	4: 143,896,775	Y276*	probably null	Het
Psmc4	A	G	7: 28,042,660	V303A	probably benign	Het
Ptdss2	A	G	7: 141,151,732	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,589,008	Y1295*	probably null	Het
Rbm19	A	G	5: 120,186,218	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,021,102	Y183*	probably null	Het
Rnd1	T	C	15: 98,670,799	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,418,179	C282S	probably damaging	Het
S100b	G	A	10: 76,257,092	G20R	probably benign	Het
Sae1	G	T	7: 16,368,544	Y168*	probably null	Het
Samd9l	C	A	6: 3,372,600	G1554*	probably null	Het
Samhd1	T	C	2: 157,135,020	S55G	probably benign	Het
Slc28a3	A	T	13: 58,563,172	M512K	probably damaging	Het
Slc9b2	T	A	3: 135,318,390	N67K	probably benign	Het
Smarca4	T	A	9: 21,638,800	I402N	probably damaging	Het
St7l	T	C	3: 104,889,353	F261L	probably benign	Het
Syde2	T	A	3: 146,015,798	V1140D	probably damaging	Het
Syt6	T	A	3: 103,587,472	I251N	probably damaging	Het
Taok2	T	C	7: 126,866,818	E916G	probably damaging	Het
Tecta	A	G	9: 42,377,992	S426P	probably damaging	Het
Thra	T	C	11: 98,764,308	I338T	probably damaging	Het
Trub1	A	T	19: 57,472,703	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,545	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,183,500	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,330,541	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,313,250	Y100H	probably damaging	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
R0420:Sgsm1	UTSW	5	113263759	missense	probably benign	0.16
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
R7309:Sgsm1	UTSW	5	113268846	splice site	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
R7961:Sgsm1	UTSW	5	113282644	missense	probably damaging	1.00
R8088:Sgsm1	UTSW	5	113255268	missense	probably damaging	1.00
R8213:Sgsm1	UTSW	5	113251011	missense	probably damaging	1.00
R8278:Sgsm1	UTSW	5	113260092	missense	probably damaging	0.98
R8480:Sgsm1	UTSW	5	113263418	missense	probably benign	0.01
R8796:Sgsm1	UTSW	5	113263257	missense	probably benign	0.15
R8816:Sgsm1	UTSW	5	113287231	missense	probably damaging	1.00
R8904:Sgsm1	UTSW	5	113273629	missense	probably benign	0.00
R8905:Sgsm1	UTSW	5	113273629	missense	probably benign	0.00
R8952:Sgsm1	UTSW	5	113284995	missense	probably damaging	1.00
R9046:Sgsm1	UTSW	5	113288859	missense	probably damaging	1.00
R9162:Sgsm1	UTSW	5	113282711	missense	probably damaging	1.00
R9249:Sgsm1	UTSW	5	113280335	missense	possibly damaging	0.86
R9375:Sgsm1	UTSW	5	113274273	missense	unknown
R9377:Sgsm1	UTSW	5	113288875	missense	probably damaging	1.00
R9461:Sgsm1	UTSW	5	113276032	critical splice donor site	probably null
R9662:Sgsm1	UTSW	5	113279231	missense	probably benign	0.03
R9722:Sgsm1	UTSW	5	113280341	missense	possibly damaging	0.75
R9726:Sgsm1	UTSW	5	113310552	missense	probably benign
Z1177:Sgsm1	UTSW	5	113282710	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGATGGGACTCAAGTCAGC -3'
(R):5'- GGGACAATGAGAATTTTCTGGG -3'

Sequencing Primer
(F):5'- GGACTCAAGTCAGCTGTGG -3'
(R):5'- ACAATGAGAATTTTCTGGGTTGAGAG -3'

Posted On

2019-06-26