Mutagenetix > Incidental Mutation

Incidental Mutation 'R3855:Sgsm1'

276105

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, D5Bwg1524e, 2410098H20Rik

MMRRC Submission

040901-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3855 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

113391086-113458652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113411125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 580 (V580A)

Ref Sequence

ENSEMBL: ENSMUSP00000084106 (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: V867A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: V867A

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: V580A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: V580A

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

0.0925

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.9%
20x: 93.3%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	A	T	4: 63,291,705 (GRCm39)	S1144R	probably damaging	Het
Apbb1ip	T	C	2: 22,765,187 (GRCm39)	S623P	unknown	Het
Apex1	A	G	14: 51,163,714 (GRCm39)	T109A	probably benign	Het
Arhgef1	G	A	7: 24,618,697 (GRCm39)	G107S	probably damaging	Het
Ccnq	T	C	11: 78,642,013 (GRCm39)	N159S	probably benign	Het
Cdc42bpa	A	G	1: 179,983,543 (GRCm39)		probably benign	Het
Cog2	T	C	8: 125,256,742 (GRCm39)		probably null	Het
Dennd4c	G	A	4: 86,698,084 (GRCm39)	V191M	probably damaging	Het
Dthd1	T	A	5: 62,984,472 (GRCm39)	H392Q	probably benign	Het
Dthd1	T	C	5: 63,045,366 (GRCm39)	V710A	probably benign	Het
Galnt7	T	C	8: 57,985,658 (GRCm39)		probably benign	Het
Gm4868	A	G	5: 125,925,609 (GRCm39)		noncoding transcript	Het
Gpr179	T	C	11: 97,232,260 (GRCm39)	E648G	probably damaging	Het
Hk2	T	C	6: 82,713,657 (GRCm39)	E447G	possibly damaging	Het
Idi1	G	T	13: 8,935,968 (GRCm39)	A25S	probably benign	Het
Itgb3bp	T	C	4: 99,686,957 (GRCm39)	E76G	possibly damaging	Het
Khk	A	G	5: 31,084,401 (GRCm39)	D82G	probably benign	Het
Kif17	A	G	4: 138,018,821 (GRCm39)	S533G	probably benign	Het
Kmt2a	A	G	9: 44,741,796 (GRCm39)		probably benign	Het
Kmt5c	T	C	7: 4,749,255 (GRCm39)	F104S	probably damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Mdh1	C	T	11: 21,509,281 (GRCm39)	V234I	probably benign	Het
Nbas	T	A	12: 13,329,415 (GRCm39)	I120N	possibly damaging	Het
Nfia	A	G	4: 97,951,259 (GRCm39)	H362R	probably damaging	Het
Nhlrc2	T	C	19: 56,576,703 (GRCm39)		probably null	Het
Nme5	A	G	18: 34,702,884 (GRCm39)	S135P	possibly damaging	Het
Nt5c2	A	G	19: 46,884,957 (GRCm39)	V252A	probably damaging	Het
Nufip2	T	C	11: 77,583,715 (GRCm39)	V543A	probably damaging	Het
Or1l4b	A	T	2: 37,036,835 (GRCm39)	I204F	possibly damaging	Het
Or2y10	A	G	11: 49,454,918 (GRCm39)	T57A	probably damaging	Het
Otog	T	C	7: 45,923,184 (GRCm39)	S1020P	possibly damaging	Het
Pear1	T	C	3: 87,659,228 (GRCm39)	H814R	possibly damaging	Het
Pkd1l1	A	G	11: 8,915,047 (GRCm39)		probably null	Het
Pla2g4a	T	A	1: 149,705,928 (GRCm39)	I711F	possibly damaging	Het
Ppig	G	A	2: 69,579,719 (GRCm39)	V418I	unknown	Het
Prg4	T	C	1: 150,327,751 (GRCm39)	Y234C	probably damaging	Het
Prmt9	G	A	8: 78,294,894 (GRCm39)	V413I	probably benign	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Sepsecs	G	A	5: 52,821,616 (GRCm39)	R74C	probably damaging	Het
Sh3bp1	C	T	15: 78,785,361 (GRCm39)		probably benign	Het
Sox11	C	A	12: 27,391,501 (GRCm39)	G303C	probably damaging	Het
Usp54	C	A	14: 20,638,488 (GRCm39)	M197I	probably damaging	Het
Vps26c	A	G	16: 94,311,665 (GRCm39)	F95L	probably benign	Het
Xylt1	T	G	7: 117,192,777 (GRCm39)	L361R	probably damaging	Het
Zfp512	A	G	5: 31,637,593 (GRCm39)	R505G	possibly damaging	Het

Other mutations in Sgsm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Sgsm1	APN	5	113,392,930 (GRCm39)	missense	probably benign	0.00
IGL00503:Sgsm1	APN	5	113,424,008 (GRCm39)	missense	probably benign	0.00
IGL01377:Sgsm1	APN	5	113,424,048 (GRCm39)	splice site	probably benign
IGL01602:Sgsm1	APN	5	113,433,531 (GRCm39)	missense	possibly damaging	0.92
IGL01605:Sgsm1	APN	5	113,433,531 (GRCm39)	missense	possibly damaging	0.92
IGL01669:Sgsm1	APN	5	113,411,356 (GRCm39)	missense	probably benign
IGL01920:Sgsm1	APN	5	113,421,471 (GRCm39)	missense	probably damaging	1.00
IGL01951:Sgsm1	APN	5	113,434,633 (GRCm39)	splice site	probably benign
IGL02387:Sgsm1	APN	5	113,400,929 (GRCm39)	missense	possibly damaging	0.93
IGL02690:Sgsm1	APN	5	113,434,633 (GRCm39)	splice site	probably benign
IGL03177:Sgsm1	APN	5	113,398,859 (GRCm39)	missense	probably damaging	1.00
IGL03186:Sgsm1	APN	5	113,432,887 (GRCm39)	missense	probably benign	0.00
IGL03398:Sgsm1	APN	5	113,403,182 (GRCm39)	missense	possibly damaging	0.67
caliente	UTSW	5	113,428,328 (GRCm39)	intron	probably benign
Chili	UTSW	5	113,405,989 (GRCm39)	intron	probably benign
pimiento	UTSW	5	113,411,123 (GRCm39)	missense	probably benign	0.15
R0048:Sgsm1	UTSW	5	113,416,616 (GRCm39)	missense	probably damaging	1.00
R0058:Sgsm1	UTSW	5	113,432,953 (GRCm39)	missense	probably damaging	1.00
R0058:Sgsm1	UTSW	5	113,432,953 (GRCm39)	missense	probably damaging	1.00
R0082:Sgsm1	UTSW	5	113,436,702 (GRCm39)	missense	probably benign	0.01
R0085:Sgsm1	UTSW	5	113,427,136 (GRCm39)	splice site	probably benign
R0099:Sgsm1	UTSW	5	113,422,226 (GRCm39)	splice site	probably benign
R0269:Sgsm1	UTSW	5	113,434,795 (GRCm39)	critical splice acceptor site	probably null
R0310:Sgsm1	UTSW	5	113,411,571 (GRCm39)	missense	probably benign	0.00
R0325:Sgsm1	UTSW	5	113,436,701 (GRCm39)	missense	probably damaging	0.99
R0420:Sgsm1	UTSW	5	113,411,625 (GRCm39)	missense	probably benign	0.16
R0594:Sgsm1	UTSW	5	113,458,428 (GRCm39)	missense	probably benign	0.00
R0599:Sgsm1	UTSW	5	113,392,894 (GRCm39)	missense	probably damaging	1.00
R0631:Sgsm1	UTSW	5	113,432,989 (GRCm39)	splice site	probably benign
R0744:Sgsm1	UTSW	5	113,427,050 (GRCm39)	missense	probably benign	0.38
R0833:Sgsm1	UTSW	5	113,427,050 (GRCm39)	missense	probably benign	0.38
R0919:Sgsm1	UTSW	5	113,406,708 (GRCm39)	missense	probably damaging	1.00
R0944:Sgsm1	UTSW	5	113,413,740 (GRCm39)	missense	probably benign	0.40
R1169:Sgsm1	UTSW	5	113,427,351 (GRCm39)	missense	probably damaging	1.00
R1232:Sgsm1	UTSW	5	113,421,577 (GRCm39)	nonsense	probably null
R1473:Sgsm1	UTSW	5	113,411,123 (GRCm39)	missense	probably benign	0.15
R1535:Sgsm1	UTSW	5	113,411,135 (GRCm39)	missense	possibly damaging	0.93
R1796:Sgsm1	UTSW	5	113,421,483 (GRCm39)	missense	possibly damaging	0.58
R1878:Sgsm1	UTSW	5	113,411,381 (GRCm39)	missense	probably damaging	0.97
R2084:Sgsm1	UTSW	5	113,433,266 (GRCm39)	missense	probably damaging	1.00
R3856:Sgsm1	UTSW	5	113,411,125 (GRCm39)	missense	probably benign	0.01
R4294:Sgsm1	UTSW	5	113,433,270 (GRCm39)	missense	probably damaging	1.00
R4373:Sgsm1	UTSW	5	113,405,989 (GRCm39)	intron	probably benign
R4558:Sgsm1	UTSW	5	113,405,977 (GRCm39)	intron	probably benign
R4610:Sgsm1	UTSW	5	113,403,173 (GRCm39)	missense	probably damaging	1.00
R4667:Sgsm1	UTSW	5	113,407,913 (GRCm39)	critical splice donor site	probably null
R4838:Sgsm1	UTSW	5	113,430,492 (GRCm39)	missense	probably damaging	1.00
R4890:Sgsm1	UTSW	5	113,428,328 (GRCm39)	intron	probably benign
R4992:Sgsm1	UTSW	5	113,430,486 (GRCm39)	missense	possibly damaging	0.89
R5366:Sgsm1	UTSW	5	113,398,905 (GRCm39)	missense	possibly damaging	0.91
R5776:Sgsm1	UTSW	5	113,398,823 (GRCm39)	missense	probably damaging	1.00
R5813:Sgsm1	UTSW	5	113,398,822 (GRCm39)	missense	probably damaging	1.00
R6000:Sgsm1	UTSW	5	113,434,704 (GRCm39)	missense	probably damaging	1.00
R6354:Sgsm1	UTSW	5	113,430,522 (GRCm39)	missense	probably damaging	0.99
R6440:Sgsm1	UTSW	5	113,426,997 (GRCm39)	critical splice donor site	probably null
R6831:Sgsm1	UTSW	5	113,428,246 (GRCm39)	missense	probably damaging	0.97
R7307:Sgsm1	UTSW	5	113,421,512 (GRCm39)	missense	probably benign	0.00
R7309:Sgsm1	UTSW	5	113,416,712 (GRCm39)	splice site	probably null
R7387:Sgsm1	UTSW	5	113,411,566 (GRCm39)	missense	probably damaging	1.00
R7439:Sgsm1	UTSW	5	113,422,187 (GRCm39)	missense	probably damaging	0.99
R7485:Sgsm1	UTSW	5	113,427,501 (GRCm39)	splice site	probably null
R7624:Sgsm1	UTSW	5	113,422,201 (GRCm39)	nonsense	probably null
R7632:Sgsm1	UTSW	5	113,423,948 (GRCm39)	missense	possibly damaging	0.54
R7669:Sgsm1	UTSW	5	113,400,890 (GRCm39)	missense	probably damaging	1.00
R7727:Sgsm1	UTSW	5	113,422,193 (GRCm39)	missense	possibly damaging	0.95
R7732:Sgsm1	UTSW	5	113,414,196 (GRCm39)	missense	probably benign	0.26
R7961:Sgsm1	UTSW	5	113,430,510 (GRCm39)	missense	probably damaging	1.00
R8088:Sgsm1	UTSW	5	113,403,134 (GRCm39)	missense	probably damaging	1.00
R8213:Sgsm1	UTSW	5	113,398,877 (GRCm39)	missense	probably damaging	1.00
R8278:Sgsm1	UTSW	5	113,407,958 (GRCm39)	missense	probably damaging	0.98
R8480:Sgsm1	UTSW	5	113,411,284 (GRCm39)	missense	probably benign	0.01
R8796:Sgsm1	UTSW	5	113,411,123 (GRCm39)	missense	probably benign	0.15
R8816:Sgsm1	UTSW	5	113,435,097 (GRCm39)	missense	probably damaging	1.00
R8904:Sgsm1	UTSW	5	113,421,495 (GRCm39)	missense	probably benign	0.00
R8905:Sgsm1	UTSW	5	113,421,495 (GRCm39)	missense	probably benign	0.00
R8952:Sgsm1	UTSW	5	113,432,861 (GRCm39)	missense	probably damaging	1.00
R9046:Sgsm1	UTSW	5	113,436,725 (GRCm39)	missense	probably damaging	1.00
R9162:Sgsm1	UTSW	5	113,430,577 (GRCm39)	missense	probably damaging	1.00
R9249:Sgsm1	UTSW	5	113,428,201 (GRCm39)	missense	possibly damaging	0.86
R9375:Sgsm1	UTSW	5	113,422,139 (GRCm39)	missense	unknown
R9377:Sgsm1	UTSW	5	113,436,741 (GRCm39)	missense	probably damaging	1.00
R9461:Sgsm1	UTSW	5	113,423,898 (GRCm39)	critical splice donor site	probably null
R9662:Sgsm1	UTSW	5	113,427,097 (GRCm39)	missense	probably benign	0.03
R9722:Sgsm1	UTSW	5	113,428,207 (GRCm39)	missense	possibly damaging	0.75
R9726:Sgsm1	UTSW	5	113,458,418 (GRCm39)	missense	probably benign
Z1177:Sgsm1	UTSW	5	113,430,576 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCTAAAGTCTGTGAAGGCAG -3'
(R):5'- AGGAGTTCATGTCTATCCCTGG -3'

Sequencing Primer
(F):5'- GAGGGCAACATGGTGGCTC -3'
(R):5'- TGGCCCTACCTGAGAAGGATG -3'

Posted On

2015-04-06