Mutagenetix > Incidental Mutation

Incidental Mutation 'R0594:Sgsm1'

216247

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, 2410098H20Rik, D5Bwg1524e

MMRRC Submission

038784-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0594 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

113243220-113310786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113310562 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 17 (T17A)

Ref Sequence

ENSEMBL: ENSMUSP00000114932 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048112
AA Change: T17A

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

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: T17A

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: ENSMUST00000112325
AA Change: T17A

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

SMART Domains

Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216
AA Change: T17A

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: ENSMUST00000140981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145708

Predicted Effect

probably benign
Transcript: ENSMUST00000154248
AA Change: T17A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216
AA Change: T17A

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

0.0689

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.6%

Validation Efficiency

99% (119/120)

Allele List at MGI

Other mutations in this stock

Total: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,389,880 (GRCm38)	V41A	probably benign	Het
Acad11	A	G	9: 104,095,563 (GRCm38)	Q367R	probably benign	Het
Ackr4	A	G	9: 104,099,004 (GRCm38)	V248A	possibly damaging	Het
Adamts14	T	C	10: 61,202,887 (GRCm38)	E945G	probably damaging	Het
Akap2	A	G	4: 57,856,752 (GRCm38)	T694A	probably benign	Het
Ano2	A	G	6: 125,982,765 (GRCm38)	M663V	probably damaging	Het
Apc2	T	A	10: 80,306,256 (GRCm38)	C336*	probably null	Het
Arhgap17	A	G	7: 123,294,518 (GRCm38)	S560P	probably benign	Het
Arl5a	T	C	2: 52,405,014 (GRCm38)	D128G	probably damaging	Het
Atp6v0a2	C	A	5: 124,717,982 (GRCm38)	R678S	probably benign	Het
B4galnt2	C	A	11: 95,891,909 (GRCm38)	A26S	probably benign	Het
C1qtnf1	A	T	11: 118,446,628 (GRCm38)	T95S	possibly damaging	Het
Ccdc188	T	A	16: 18,218,920 (GRCm38)	F241L	probably benign	Het
Cdh19	A	T	1: 110,925,867 (GRCm38)	D281E	probably benign	Het
Cdk5rap2	T	C	4: 70,354,813 (GRCm38)	E241G	probably damaging	Het
Cherp	A	T	8: 72,462,402 (GRCm38)		probably null	Het
Cpne9	T	A	6: 113,290,400 (GRCm38)		probably benign	Het
Cthrc1	A	T	15: 39,077,142 (GRCm38)	R47W	possibly damaging	Het
Dcaf13	A	G	15: 39,123,268 (GRCm38)	E145G	probably benign	Het
Dcaf4	T	A	12: 83,538,043 (GRCm38)		probably null	Het
Dgka	A	C	10: 128,733,110 (GRCm38)		probably benign	Het
Dhrs13	T	A	11: 78,034,525 (GRCm38)	F157L	probably damaging	Het
Dnajb5	A	T	4: 42,956,577 (GRCm38)	Y88F	probably damaging	Het
Dpp8	A	G	9: 65,036,998 (GRCm38)	T16A	probably damaging	Het
Dscc1	A	T	15: 55,089,052 (GRCm38)	I91K	possibly damaging	Het
Efemp2	T	A	19: 5,475,063 (GRCm38)		probably benign	Het
Elf2	T	C	3: 51,256,453 (GRCm38)	T504A	possibly damaging	Het
Elk3	G	A	10: 93,265,160 (GRCm38)	S243F	probably damaging	Het
Ell2	A	G	13: 75,749,993 (GRCm38)	D93G	probably damaging	Het
Eln	G	T	5: 134,712,398 (GRCm38)		probably benign	Het
Eme1	C	T	11: 94,650,430 (GRCm38)	D189N	possibly damaging	Het
Epb41l2	A	G	10: 25,443,770 (GRCm38)	E167G	possibly damaging	Het
Exoc5	A	T	14: 49,036,087 (GRCm38)		probably benign	Het
Fam129c	C	A	8: 71,599,135 (GRCm38)	A38E	probably benign	Het
Fam170b	A	G	14: 32,836,314 (GRCm38)	K369E	unknown	Het
Fam187b	T	A	7: 30,977,154 (GRCm38)	C29*	probably null	Het
Fam20c	T	C	5: 138,766,637 (GRCm38)	S260P	possibly damaging	Het
Fam216b	G	A	14: 78,086,674 (GRCm38)	A21V	possibly damaging	Het
Fam98a	A	T	17: 75,538,487 (GRCm38)	Y421*	probably null	Het
Farp2	T	C	1: 93,576,500 (GRCm38)	V333A	probably damaging	Het
Fcgr1	T	C	3: 96,292,312 (GRCm38)	Y93C	probably damaging	Het
Fgd2	A	T	17: 29,365,552 (GRCm38)	I157F	probably damaging	Het
Frmd4b	T	A	6: 97,325,426 (GRCm38)		probably benign	Het
Fut9	T	C	4: 25,620,526 (GRCm38)	D96G	possibly damaging	Het
Glt8d1	G	A	14: 31,010,410 (GRCm38)		probably null	Het
Gm7579	T	A	7: 142,212,384 (GRCm38)	C176S	unknown	Het
Gmpr2	A	G	14: 55,677,988 (GRCm38)	E272G	probably damaging	Het
Grin2b	T	C	6: 135,733,929 (GRCm38)	H873R	probably damaging	Het
Gtf2i	C	T	5: 134,242,173 (GRCm38)		probably benign	Het
Htr3b	A	T	9: 48,947,631 (GRCm38)	V69E	probably benign	Het
Icam5	A	G	9: 21,035,598 (GRCm38)	N474S	probably benign	Het
Itgal	T	A	7: 127,314,060 (GRCm38)	S610T	probably damaging	Het
Jag1	T	A	2: 137,087,080 (GRCm38)	I819L	probably damaging	Het
Kif9	A	T	9: 110,511,340 (GRCm38)	E467V	probably benign	Het
Krit1	T	C	5: 3,823,694 (GRCm38)	L491P	possibly damaging	Het
Lipo2	T	G	19: 33,746,902 (GRCm38)	I155L	possibly damaging	Het
Lmbr1	A	G	5: 29,292,209 (GRCm38)	F65L	possibly damaging	Het
Lsp1	G	A	7: 142,488,950 (GRCm38)		probably benign	Het
Marc2	T	C	1: 184,841,339 (GRCm38)	N121D	probably benign	Het
Mgat5	T	A	1: 127,412,248 (GRCm38)	D455E	probably damaging	Het
Mical2	A	T	7: 112,318,450 (GRCm38)	Y338F	probably damaging	Het
Mkl1	G	A	15: 81,017,174 (GRCm38)	T372I	probably damaging	Het
Mre11a	T	G	9: 14,815,209 (GRCm38)	S396A	probably benign	Het
Myo3a	C	T	2: 22,544,332 (GRCm38)		probably benign	Het
Naca	T	C	10: 128,040,355 (GRCm38)		probably benign	Het
Nav1	A	T	1: 135,467,643 (GRCm38)	I996K	possibly damaging	Het
Ncbp1	A	G	4: 46,170,551 (GRCm38)	N742S	probably benign	Het
Ndufaf3	G	A	9: 108,566,923 (GRCm38)	A2V	probably benign	Het
Ntn5	G	T	7: 45,686,681 (GRCm38)	A47S	probably damaging	Het
Olfr1122	T	A	2: 87,387,954 (GRCm38)	I83N	probably damaging	Het
Olfr13	T	A	6: 43,174,607 (GRCm38)	V207E	possibly damaging	Het
Olfr1502	G	T	19: 13,862,279 (GRCm38)	C162F	probably benign	Het
Olfr384	G	A	11: 73,603,392 (GRCm38)	E271K	probably benign	Het
Olfr392	T	C	11: 73,814,617 (GRCm38)	H155R	probably benign	Het
Olfr777	T	C	10: 129,269,152 (GRCm38)	Y57C	possibly damaging	Het
Otud7a	T	A	7: 63,727,472 (GRCm38)	L203*	probably null	Het
Pcdhb13	A	G	18: 37,443,931 (GRCm38)	Y454C	probably damaging	Het
Pdzph1	C	T	17: 58,954,479 (GRCm38)	V853M	possibly damaging	Het
Plec	A	G	15: 76,172,253 (GRCm38)	S4517P	probably damaging	Het
Pm20d2	C	T	4: 33,181,746 (GRCm38)	E286K	probably damaging	Het
Polr2i	T	A	7: 30,232,745 (GRCm38)		probably null	Het
Ppp1r12b	A	G	1: 134,776,479 (GRCm38)	L879P	probably damaging	Het
Prf1	C	A	10: 61,303,722 (GRCm38)	Y486*	probably null	Het
Qsox2	T	G	2: 26,214,044 (GRCm38)	T325P	probably damaging	Het
Rab1b	G	T	19: 5,100,656 (GRCm38)		probably benign	Het
Rbm19	T	C	5: 120,128,316 (GRCm38)		probably null	Het
Rhobtb2	A	G	14: 69,793,948 (GRCm38)	V576A	probably benign	Het
Rnps1	G	A	17: 24,424,437 (GRCm38)	V215M	probably damaging	Het
Rps11	A	G	7: 45,124,282 (GRCm38)		probably benign	Het
Serpinb3d	C	T	1: 107,079,347 (GRCm38)	M210I	probably damaging	Het
Slc6a3	A	G	13: 73,538,642 (GRCm38)	T43A	probably damaging	Het
Sox4	C	G	13: 28,952,904 (GRCm38)	A40P	probably damaging	Het
Spry2	A	T	14: 105,893,310 (GRCm38)	D147E	possibly damaging	Het
Stpg1	A	G	4: 135,519,431 (GRCm38)	N157D	possibly damaging	Het
Sumf1	T	C	6: 108,173,414 (GRCm38)	D152G	probably benign	Het
Tbr1	T	C	2: 61,811,620 (GRCm38)	S410P	possibly damaging	Het
Tdrd6	A	G	17: 43,629,383 (GRCm38)	V258A	probably damaging	Het
Tirap	C	T	9: 35,188,761 (GRCm38)	G209D	probably damaging	Het
Tnfrsf8	A	T	4: 145,296,861 (GRCm38)	V134D	probably damaging	Het
Tnr	A	G	1: 159,850,335 (GRCm38)	T97A	probably benign	Het
Tspan32	T	A	7: 143,015,610 (GRCm38)	F135L	probably damaging	Het
Ttn	T	C	2: 76,789,056 (GRCm38)	K16021E	probably damaging	Het
Tusc3	T	A	8: 39,096,968 (GRCm38)	I251N	probably damaging	Het
Usp38	A	T	8: 81,005,366 (GRCm38)	I305N	probably damaging	Het
Usp4	T	A	9: 108,370,881 (GRCm38)		probably null	Het
Usp5	A	T	6: 124,817,424 (GRCm38)	D764E	probably damaging	Het
Vangl2	A	T	1: 172,004,657 (GRCm38)	V544E	probably damaging	Het
Vldlr	G	A	19: 27,234,819 (GRCm38)	V78M	probably damaging	Het
Vmn1r29	T	C	6: 58,307,772 (GRCm38)	V159A	probably benign	Het
Vmn2r16	T	A	5: 109,363,896 (GRCm38)	F656L	probably damaging	Het
Wdfy3	T	A	5: 101,906,185 (GRCm38)	I1590F	possibly damaging	Het
Xpo1	T	A	11: 23,280,402 (GRCm38)	V263E	probably damaging	Het
Zbtb38	A	G	9: 96,685,954 (GRCm38)	S1026P	probably damaging	Het
Zfp407	A	T	18: 84,562,567 (GRCm38)	D140E	possibly damaging	Het
Zfp637	T	A	6: 117,845,686 (GRCm38)	Y258*	probably null	Het
Zfp951	T	A	5: 104,814,572 (GRCm38)	Q376L	possibly damaging	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
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
R8480:Sgsm1	UTSW	5	113,263,418 (GRCm38)	missense	probably benign	0.01
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'- TGGCTCCAAGGACTGAGTATCTGAC -3'
(R):5'- GGCTTTGCCTCGTTTCTAAATACGC -3'

Sequencing Primer
(F):5'- ATTCCGCATCTCTAATGAGGAGC -3'
(R):5'- AGCACGGTTCCGCATCTTAG -3'

Posted On

2014-07-31