Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Sgsm1'

657473

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, 2410098H20Rik, D5Bwg1524e

MMRRC Submission

067924-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113243220-113310786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113263418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 814 (M814K)

Ref Sequence

ENSEMBL: ENSMUSP00000046544 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048112
AA Change: M814K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: M814K

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: M527K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: M527K

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

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

Coding Region Coverage

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

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	G	A	15: 101,210,839 (GRCm38)	V499M	possibly damaging	Het
Adam5	G	A	8: 24,804,459 (GRCm38)	Q375*	probably null	Het
Adgrf1	G	A	17: 43,295,164 (GRCm38)	E60K	probably benign	Het
Alb	T	C	5: 90,462,771 (GRCm38)	V70A	probably damaging	Het
Aph1b	T	A	9: 66,788,427 (GRCm38)		probably benign	Het
Aste1	G	A	9: 105,396,990 (GRCm38)	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,397,796 (GRCm38)	T351S	probably damaging	Het
Bace2	T	A	16: 97,413,470 (GRCm38)	L286Q	probably damaging	Het
Bach1	G	A	16: 87,719,275 (GRCm38)	G235R	probably damaging	Het
Bpnt2	C	T	4: 4,769,376 (GRCm38)	M246I	probably benign	Het
Brwd1	A	T	16: 96,047,430 (GRCm38)	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,685,144 (GRCm38)		probably null	Het
Cdh22	T	A	2: 165,146,726 (GRCm38)	E236D	probably benign	Het
Celsr1	G	T	15: 86,033,085 (GRCm38)	S229*	probably null	Het
Celsr2	T	A	3: 108,398,902 (GRCm38)	T2029S	probably benign	Het
Col11a1	A	G	3: 114,181,394 (GRCm38)	D1234G	probably benign	Het
Cplane1	C	A	15: 8,187,458 (GRCm38)	P720Q	possibly damaging	Het
Cpt2	A	G	4: 107,907,760 (GRCm38)	I269T	probably damaging	Het
Dcaf7	T	A	11: 106,054,793 (GRCm38)	S323T	probably benign	Het
Ddias	G	T	7: 92,859,400 (GRCm38)	Q436K	probably benign	Het
Dlec1	G	A	9: 119,143,267 (GRCm38)		probably null	Het
Dock5	T	A	14: 67,836,410 (GRCm38)	I294F	probably benign	Het
Fat2	A	T	11: 55,282,968 (GRCm38)	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,377,506 (GRCm38)	D626V	probably damaging	Het
Gm6563	A	G	19: 23,675,926 (GRCm38)	T27A	probably benign	Het
Hadhb	T	C	5: 30,168,570 (GRCm38)		probably null	Het
Hsph1	A	T	5: 149,627,564 (GRCm38)	W406R	probably null	Het
Ighv1-66	C	T	12: 115,593,382 (GRCm38)	G27R	possibly damaging	Het
Krt26	T	C	11: 99,337,600 (GRCm38)	E102G	probably damaging	Het
Krt34	T	A	11: 100,040,145 (GRCm38)		probably null	Het
Krt36	T	C	11: 100,102,809 (GRCm38)	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,431,131 (GRCm38)	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,485,936 (GRCm38)	N758S	probably damaging	Het
Mrtfb	A	T	16: 13,384,192 (GRCm38)		probably null	Het
Muc4	C	T	16: 32,752,993 (GRCm38)	T957I	probably benign	Het
Naip5	T	C	13: 100,222,235 (GRCm38)	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,635,644 (GRCm38)	V829E	probably benign	Het
Nmnat1	G	A	4: 149,473,370 (GRCm38)	L72F	possibly damaging	Het
Or4f14d	A	T	2: 112,129,985 (GRCm38)	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,129,065 (GRCm38)	V1161E	probably damaging	Het
Raver1	A	G	9: 21,090,280 (GRCm38)	Y86H	probably benign	Het
Recql4	G	T	15: 76,704,505 (GRCm38)	H1035Q	probably benign	Het
Sh3d19	T	G	3: 86,084,877 (GRCm38)	W71G	probably benign	Het
Sidt1	T	C	16: 44,245,166 (GRCm38)	Y759C	probably damaging	Het
Spg11	G	T	2: 122,113,079 (GRCm38)	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069 (GRCm38)		probably null	Het
Ssc5d	A	T	7: 4,936,329 (GRCm38)	D588V	probably damaging	Het
Supt20	C	A	3: 54,707,116 (GRCm38)	T181K	probably damaging	Het
Szt2	A	T	4: 118,386,818 (GRCm38)	S1363R	probably benign	Het
Tbcel	G	A	9: 42,463,873 (GRCm38)		probably null	Het
Ube2e3	T	C	2: 78,918,814 (GRCm38)	L169P	probably damaging	Het
Wrn	A	G	8: 33,288,768 (GRCm38)	F595S	probably benign	Het
Zfp473	G	T	7: 44,732,899 (GRCm38)	P670Q	probably damaging	Het
Zw10	C	T	9: 49,074,999 (GRCm38)	A660V	probably benign	Het

Other mutations in Sgsm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Sgsm1	APN	5	113,245,064 (GRCm38)	missense	probably benign	0.00
IGL00503:Sgsm1	APN	5	113,276,142 (GRCm38)	missense	probably benign	0.00
IGL01377:Sgsm1	APN	5	113,276,182 (GRCm38)	splice site	probably benign
IGL01602:Sgsm1	APN	5	113,285,665 (GRCm38)	missense	possibly damaging	0.92
IGL01605:Sgsm1	APN	5	113,285,665 (GRCm38)	missense	possibly damaging	0.92
IGL01669:Sgsm1	APN	5	113,263,490 (GRCm38)	missense	probably benign
IGL01920:Sgsm1	APN	5	113,273,605 (GRCm38)	missense	probably damaging	1.00
IGL01951:Sgsm1	APN	5	113,286,767 (GRCm38)	splice site	probably benign
IGL02387:Sgsm1	APN	5	113,253,063 (GRCm38)	missense	possibly damaging	0.93
IGL02690:Sgsm1	APN	5	113,286,767 (GRCm38)	splice site	probably benign
IGL03177:Sgsm1	APN	5	113,250,993 (GRCm38)	missense	probably damaging	1.00
IGL03186:Sgsm1	APN	5	113,285,021 (GRCm38)	missense	probably benign	0.00
IGL03398:Sgsm1	APN	5	113,255,316 (GRCm38)	missense	possibly damaging	0.67
caliente	UTSW	5	113,280,462 (GRCm38)	intron	probably benign
Chili	UTSW	5	113,258,123 (GRCm38)	intron	probably benign
pimiento	UTSW	5	113,263,257 (GRCm38)	missense	probably benign	0.15
R0048:Sgsm1	UTSW	5	113,268,750 (GRCm38)	missense	probably damaging	1.00
R0058:Sgsm1	UTSW	5	113,285,087 (GRCm38)	missense	probably damaging	1.00
R0058:Sgsm1	UTSW	5	113,285,087 (GRCm38)	missense	probably damaging	1.00
R0082:Sgsm1	UTSW	5	113,288,836 (GRCm38)	missense	probably benign	0.01
R0085:Sgsm1	UTSW	5	113,279,270 (GRCm38)	splice site	probably benign
R0099:Sgsm1	UTSW	5	113,274,360 (GRCm38)	splice site	probably benign
R0269:Sgsm1	UTSW	5	113,286,929 (GRCm38)	critical splice acceptor site	probably null
R0310:Sgsm1	UTSW	5	113,263,705 (GRCm38)	missense	probably benign	0.00
R0325:Sgsm1	UTSW	5	113,288,835 (GRCm38)	missense	probably damaging	0.99
R0420:Sgsm1	UTSW	5	113,263,759 (GRCm38)	missense	probably benign	0.16
R0594:Sgsm1	UTSW	5	113,310,562 (GRCm38)	missense	probably benign	0.00
R0599:Sgsm1	UTSW	5	113,245,028 (GRCm38)	missense	probably damaging	1.00
R0631:Sgsm1	UTSW	5	113,285,123 (GRCm38)	splice site	probably benign
R0744:Sgsm1	UTSW	5	113,279,184 (GRCm38)	missense	probably benign	0.38
R0833:Sgsm1	UTSW	5	113,279,184 (GRCm38)	missense	probably benign	0.38
R0919:Sgsm1	UTSW	5	113,258,842 (GRCm38)	missense	probably damaging	1.00
R0944:Sgsm1	UTSW	5	113,265,874 (GRCm38)	missense	probably benign	0.40
R1169:Sgsm1	UTSW	5	113,279,485 (GRCm38)	missense	probably damaging	1.00
R1232:Sgsm1	UTSW	5	113,273,711 (GRCm38)	nonsense	probably null
R1473:Sgsm1	UTSW	5	113,263,257 (GRCm38)	missense	probably benign	0.15
R1535:Sgsm1	UTSW	5	113,263,269 (GRCm38)	missense	possibly damaging	0.93
R1796:Sgsm1	UTSW	5	113,273,617 (GRCm38)	missense	possibly damaging	0.58
R1878:Sgsm1	UTSW	5	113,263,515 (GRCm38)	missense	probably damaging	0.97
R2084:Sgsm1	UTSW	5	113,285,400 (GRCm38)	missense	probably damaging	1.00
R3855:Sgsm1	UTSW	5	113,263,259 (GRCm38)	missense	probably benign	0.01
R3856:Sgsm1	UTSW	5	113,263,259 (GRCm38)	missense	probably benign	0.01
R4294:Sgsm1	UTSW	5	113,285,404 (GRCm38)	missense	probably damaging	1.00
R4373:Sgsm1	UTSW	5	113,258,123 (GRCm38)	intron	probably benign
R4558:Sgsm1	UTSW	5	113,258,111 (GRCm38)	intron	probably benign
R4610:Sgsm1	UTSW	5	113,255,307 (GRCm38)	missense	probably damaging	1.00
R4667:Sgsm1	UTSW	5	113,260,047 (GRCm38)	critical splice donor site	probably null
R4838:Sgsm1	UTSW	5	113,282,626 (GRCm38)	missense	probably damaging	1.00
R4890:Sgsm1	UTSW	5	113,280,462 (GRCm38)	intron	probably benign
R4992:Sgsm1	UTSW	5	113,282,620 (GRCm38)	missense	possibly damaging	0.89
R5366:Sgsm1	UTSW	5	113,251,039 (GRCm38)	missense	possibly damaging	0.91
R5776:Sgsm1	UTSW	5	113,250,957 (GRCm38)	missense	probably damaging	1.00
R5813:Sgsm1	UTSW	5	113,250,956 (GRCm38)	missense	probably damaging	1.00
R6000:Sgsm1	UTSW	5	113,286,838 (GRCm38)	missense	probably damaging	1.00
R6354:Sgsm1	UTSW	5	113,282,656 (GRCm38)	missense	probably damaging	0.99
R6440:Sgsm1	UTSW	5	113,279,131 (GRCm38)	critical splice donor site	probably null
R6831:Sgsm1	UTSW	5	113,280,380 (GRCm38)	missense	probably damaging	0.97
R7307:Sgsm1	UTSW	5	113,273,646 (GRCm38)	missense	probably benign	0.00
R7309:Sgsm1	UTSW	5	113,268,846 (GRCm38)	splice site	probably null
R7387:Sgsm1	UTSW	5	113,263,700 (GRCm38)	missense	probably damaging	1.00
R7439:Sgsm1	UTSW	5	113,274,321 (GRCm38)	missense	probably damaging	0.99
R7485:Sgsm1	UTSW	5	113,279,635 (GRCm38)	splice site	probably null
R7624:Sgsm1	UTSW	5	113,274,335 (GRCm38)	nonsense	probably null
R7632:Sgsm1	UTSW	5	113,276,082 (GRCm38)	missense	possibly damaging	0.54
R7669:Sgsm1	UTSW	5	113,253,024 (GRCm38)	missense	probably damaging	1.00
R7727:Sgsm1	UTSW	5	113,274,327 (GRCm38)	missense	possibly damaging	0.95
R7732:Sgsm1	UTSW	5	113,266,330 (GRCm38)	missense	probably benign	0.26
R7961:Sgsm1	UTSW	5	113,282,644 (GRCm38)	missense	probably damaging	1.00
R8088:Sgsm1	UTSW	5	113,255,268 (GRCm38)	missense	probably damaging	1.00
R8213:Sgsm1	UTSW	5	113,251,011 (GRCm38)	missense	probably damaging	1.00
R8278:Sgsm1	UTSW	5	113,260,092 (GRCm38)	missense	probably damaging	0.98
R8796:Sgsm1	UTSW	5	113,263,257 (GRCm38)	missense	probably benign	0.15
R8816:Sgsm1	UTSW	5	113,287,231 (GRCm38)	missense	probably damaging	1.00
R8904:Sgsm1	UTSW	5	113,273,629 (GRCm38)	missense	probably benign	0.00
R8905:Sgsm1	UTSW	5	113,273,629 (GRCm38)	missense	probably benign	0.00
R8952:Sgsm1	UTSW	5	113,284,995 (GRCm38)	missense	probably damaging	1.00
R9046:Sgsm1	UTSW	5	113,288,859 (GRCm38)	missense	probably damaging	1.00
R9162:Sgsm1	UTSW	5	113,282,711 (GRCm38)	missense	probably damaging	1.00
R9249:Sgsm1	UTSW	5	113,280,335 (GRCm38)	missense	possibly damaging	0.86
R9375:Sgsm1	UTSW	5	113,274,273 (GRCm38)	missense	unknown
R9377:Sgsm1	UTSW	5	113,288,875 (GRCm38)	missense	probably damaging	1.00
R9461:Sgsm1	UTSW	5	113,276,032 (GRCm38)	critical splice donor site	probably null
R9662:Sgsm1	UTSW	5	113,279,231 (GRCm38)	missense	probably benign	0.03
R9722:Sgsm1	UTSW	5	113,280,341 (GRCm38)	missense	possibly damaging	0.75
R9726:Sgsm1	UTSW	5	113,310,552 (GRCm38)	missense	probably benign
Z1177:Sgsm1	UTSW	5	113,282,710 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTACAGAATAGGTGACTCCACTG -3'
(R):5'- TAGCACTGAAGACAGCGTC -3'

Sequencing Primer
(F):5'- TCCACTGGAGGACACAGG -3'
(R):5'- AGACAGCGTCTTGGATGC -3'

Posted On

2021-01-18