Mutagenetix > Incidental Mutation

Incidental Mutation 'R4992:Sgsm1'

386247

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, 2410098H20Rik, D5Bwg1524e

MMRRC Submission

042586-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4992 (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 113282620 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 300 (S300T)

Ref Sequence

ENSEMBL: ENSMUSP00000107944 (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: S300T

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: S300T

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

SMART Domains

Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216

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

possibly damaging
Transcript: ENSMUST00000112325
AA Change: S300T

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216
AA Change: S300T

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: ENSMUST00000138266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147856

Predicted Effect

probably benign
Transcript: ENSMUST00000154248
AA Change: S300T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216
AA Change: S300T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156340

Meta Mutation Damage Score

0.0867

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (84/86)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 82,064,002	R700Q	possibly damaging	Het
4930444P10Rik	T	A	1: 16,080,877	E27V	probably damaging	Het
Acsm4	T	A	7: 119,711,417	I509N	probably benign	Het
Asb18	T	C	1: 89,952,863	M143V	probably benign	Het
Birc6	A	G	17: 74,689,256	D4475G	probably benign	Het
Bsn	A	T	9: 108,115,548	S1002T	probably damaging	Het
Bub3	T	C	7: 131,560,806	S33P	probably damaging	Het
Ccna1	T	A	3: 55,049,890	R35S	probably damaging	Het
Cdc23	T	A	18: 34,646,919	M119L	probably benign	Het
Ces1a	A	G	8: 93,045,022	V49A	probably benign	Het
Chil1	A	T	1: 134,188,626	E282D	probably benign	Het
Crocc	G	A	4: 141,046,666	A220V	probably damaging	Het
Cstf1	A	G	2: 172,377,800	Y277C	probably damaging	Het
D930020B18Rik	C	G	10: 121,654,761	P89A	probably damaging	Het
D930020B18Rik	C	T	10: 121,654,762	P89L	probably damaging	Het
Dennd5a	A	G	7: 109,894,712	S1262P	probably damaging	Het
Dnajb5	G	A	4: 42,953,386		probably null	Het
E330034G19Rik	A	G	14: 24,306,996	K200R	unknown	Het
Ect2l	A	G	10: 18,172,729	F156S	probably benign	Het
Egf	T	C	3: 129,711,530		probably null	Het
Elmo1	T	C	13: 20,342,519	F413S	probably damaging	Het
Elmo3	T	A	8: 105,309,501	Y607*	probably null	Het
Eno3	A	G	11: 70,658,647	D98G	probably damaging	Het
Ephb2	A	G	4: 136,660,839	V651A	probably damaging	Het
Fbp1	C	T	13: 62,865,074	V102I	probably benign	Het
Gcn1l1	T	C	5: 115,599,166	V1321A	probably benign	Het
Gimd1	A	T	3: 132,634,957	Y78F	probably benign	Het
Glmn	T	G	5: 107,557,301	D483A	probably damaging	Het
Gsr	C	T	8: 33,693,913	T401I	probably damaging	Het
Htr3b	G	A	9: 48,959,218	H62Y	possibly damaging	Het
Ifna6	T	C	4: 88,827,540	V42A	probably benign	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Inpp4b	A	T	8: 82,033,208	R627S	probably damaging	Het
Kif13a	C	T	13: 46,777,163	V142M	probably damaging	Het
Lims1	A	C	10: 58,410,241		probably benign	Het
Ltn1	T	C	16: 87,405,587	T1059A	possibly damaging	Het
Lyst	T	C	13: 13,661,163	L1810P	probably damaging	Het
Mboat1	T	G	13: 30,202,360	I119R	possibly damaging	Het
Mgat3	T	A	15: 80,212,542	D523E	probably benign	Het
Mphosph9	T	C	5: 124,304,190	E395G	probably damaging	Het
Mtcl1	G	T	17: 66,342,839	P1877Q	probably damaging	Het
Myo6	T	C	9: 80,283,510	V781A	possibly damaging	Het
Ncoa3	T	A	2: 166,069,939	M1395K	probably benign	Het
Nhlrc2	T	A	19: 56,570,534	D150E	probably benign	Het
Nlrp9a	T	C	7: 26,557,386	V54A	probably benign	Het
Olfr392	G	A	11: 73,814,320	T254I	probably damaging	Het
Olfr411	A	G	11: 74,347,197	I129T	probably damaging	Het
Parp14	A	T	16: 35,841,142	C1479S	probably benign	Het
Pdcd1lg2	T	C	19: 29,446,084	V176A	probably damaging	Het
Pibf1	T	A	14: 99,150,667	N416K	probably damaging	Het
Polb	A	T	8: 22,645,071	V115E	probably damaging	Het
Polq	T	A	16: 37,061,162	N1229K	possibly damaging	Het
Ppp1r21	A	T	17: 88,569,080	D440V	probably benign	Het
Ppp2ca	T	A	11: 52,113,206	H63Q	possibly damaging	Het
Prl7a1	C	T	13: 27,635,686		probably null	Het
Rgs1	C	A	1: 144,246,322	K77N	probably damaging	Het
Rnf112	T	A	11: 61,452,711	I100F	possibly damaging	Het
Rnf139	G	T	15: 58,898,476	E117*	probably null	Het
Robo1	G	A	16: 72,979,868	V743I	probably damaging	Het
Scarf1	T	C	11: 75,522,230	L434P	probably damaging	Het
Scarf1	T	C	11: 75,526,015	V761A	probably benign	Het
Slc26a7	T	G	4: 14,565,508	T192P	probably damaging	Het
Smarcc2	A	G	10: 128,474,710	K403E	probably damaging	Het
Snai3	G	A	8: 122,456,332	T158M	possibly damaging	Het
Spata31d1a	T	C	13: 59,703,151	N388D	probably benign	Het
Sptlc3	G	A	2: 139,596,003	V406I	probably benign	Het
Tgds	A	C	14: 118,117,763	Y197D	probably damaging	Het
Tll1	G	T	8: 64,093,944	R323S	probably damaging	Het
Tmem55b	A	G	14: 50,929,233	V179A	probably damaging	Het
Trim14	A	G	4: 46,507,110	Y369H	probably damaging	Het
Ube2nl	C	T	7: 61,549,364		noncoding transcript	Het
Ube3a	T	A	7: 59,284,820	D560E	possibly damaging	Het
Vmn2r10	A	G	5: 108,997,726	V505A	possibly damaging	Het
Vmn2r114	T	G	17: 23,291,791	I572L	probably benign	Het
Vmn2r26	A	T	6: 124,026,111	Q160L	probably benign	Het
Vmn2r75	A	C	7: 86,166,167		probably null	Het
Vps8	A	G	16: 21,461,408	K336E	possibly damaging	Het
Zfp324	T	C	7: 12,969,373	S32P	probably benign	Het
Zfp366	T	C	13: 99,229,495	I388T	possibly damaging	Het
Zfp68	A	T	5: 138,607,337	N203K	possibly damaging	Het
Zhx2	A	T	15: 57,823,587	N784I	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
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	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'- TGACCACGCCTATTCCTGAG -3'
(R):5'- TGCTTCTGCATCCTTGAGG -3'

Sequencing Primer
(F):5'- GTGTTCCTTCTGAAGCTACAGCAG -3'
(R):5'- ATCCTTGAGGCAGGCTCAG -3'

Posted On

2016-05-10