Mutagenetix > Incidental Mutation

Incidental Mutation 'R7669:Sgsm1'

592039

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, D5Bwg1524e, 2410098H20Rik

MMRRC Submission

045741-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7669 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113391086-113458652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 113400890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1000 (R1000L)

Ref Sequence

ENSEMBL: ENSMUSP00000046544 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048112
AA Change: R1000L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: R1000L

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 damaging
Transcript: ENSMUST00000057209
AA Change: R713L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: R713L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	C	T	17: 45,831,221 (GRCm39)	P930S	probably benign	Het
Ada	T	A	2: 163,570,111 (GRCm39)	K301*	probably null	Het
Alb	T	C	5: 90,611,850 (GRCm39)	L93P	possibly damaging	Het
Aldh1l1	G	A	6: 90,547,844 (GRCm39)	G435S	probably benign	Het
Alox12b	A	T	11: 69,060,167 (GRCm39)	I627F	probably benign	Het
Aloxe3	A	G	11: 69,025,946 (GRCm39)	I503V	probably benign	Het
Arhgap29	C	T	3: 121,786,461 (GRCm39)	A342V	probably damaging	Het
BC024139	G	A	15: 76,004,768 (GRCm39)	P636L	possibly damaging	Het
Bmp6	G	T	13: 38,668,896 (GRCm39)	R293L	probably damaging	Het
Cfd	G	A	10: 79,727,447 (GRCm39)		probably null	Het
Csmd1	C	T	8: 15,967,273 (GRCm39)	A3197T	probably damaging	Het
Flii	G	A	11: 60,613,490 (GRCm39)	L166F	probably damaging	Het
Fmn1	T	A	2: 113,195,822 (GRCm39)	N507K	unknown	Het
Foxe1	C	A	4: 46,344,545 (GRCm39)	R118S	possibly damaging	Het
Fras1	T	C	5: 96,840,483 (GRCm39)	V1646A	probably benign	Het
Gm14496	A	G	2: 181,637,711 (GRCm39)	T262A	possibly damaging	Het
Gpbp1	A	T	13: 111,575,658 (GRCm39)	S282T	probably benign	Het
Gria4	A	T	9: 4,462,029 (GRCm39)	N641K	probably damaging	Het
Grin2a	T	G	16: 9,810,327 (GRCm39)	N24T	probably benign	Het
Gstm2	T	G	3: 107,892,992 (GRCm39)	D40A	probably benign	Het
Heatr1	T	A	13: 12,426,143 (GRCm39)	I657N	probably benign	Het
Kmt2b	T	C	7: 30,282,656 (GRCm39)	E1102G	possibly damaging	Het
Macroh2a1	T	C	13: 56,276,146 (GRCm39)	Y39C	probably damaging	Het
Mgam	T	A	6: 40,635,944 (GRCm39)	N366K	probably benign	Het
Mier2	A	T	10: 79,385,510 (GRCm39)	V35E	probably damaging	Het
Mlxipl	T	C	5: 135,161,224 (GRCm39)	F381S	possibly damaging	Het
Mroh1	A	G	15: 76,336,048 (GRCm39)	H1474R	possibly damaging	Het
Mtrf1l	G	T	10: 5,765,620 (GRCm39)	A239E	probably damaging	Het
Nbea	G	T	3: 55,625,200 (GRCm39)	A2297E	probably damaging	Het
Nectin4	A	G	1: 171,207,827 (GRCm39)	E73G	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Nfia	G	A	4: 97,671,742 (GRCm39)	V151I	probably damaging	Het
Nol6	A	G	4: 41,118,717 (GRCm39)	L720P	probably damaging	Het
Or6c203	A	G	10: 129,010,128 (GRCm39)	F254S	probably damaging	Het
Or7e165	A	G	9: 19,694,839 (GRCm39)	N137D	possibly damaging	Het
Patj	A	G	4: 98,407,179 (GRCm39)	E1054G	probably damaging	Het
Pcnx1	A	G	12: 82,037,325 (GRCm39)	D1861G	probably damaging	Het
Prss12	A	G	3: 123,241,045 (GRCm39)	T80A	probably benign	Het
Scart2	A	G	7: 139,876,234 (GRCm39)	S569G	possibly damaging	Het
Sulf2	T	C	2: 165,935,516 (GRCm39)	D199G	possibly damaging	Het
Suox	T	C	10: 128,506,780 (GRCm39)	D416G	probably benign	Het
Syne1	G	A	10: 5,011,531 (GRCm39)	T38M	probably damaging	Het
Tcf7l2	T	A	19: 55,912,975 (GRCm39)	C421*	probably null	Het
Tex55	C	T	16: 38,648,453 (GRCm39)	D219N	possibly damaging	Het
Traf7	C	A	17: 24,732,282 (GRCm39)	G143*	probably null	Het
Trappc12	T	C	12: 28,761,957 (GRCm39)	I544V	probably benign	Het
Trmt1	G	A	8: 85,424,180 (GRCm39)	V434I	probably benign	Het
Ttc5	T	C	14: 51,014,787 (GRCm39)	H160R	probably benign	Het
Xirp2	T	A	2: 67,342,521 (GRCm39)	H1587Q	probably benign	Het
Zfp523	C	T	17: 28,420,015 (GRCm39)	T220M	probably damaging	Het
Zfp804b	A	T	5: 6,819,362 (GRCm39)	S1234T	probably 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
R3855:Sgsm1	UTSW	5	113,411,125 (GRCm39)	missense	probably benign	0.01
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
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'- AAGTATCAAACTCCGGCTGTC -3'
(R):5'- TTAACTGCACCTGGCTGCTG -3'

Sequencing Primer
(F):5'- GCTGGGGATTCAAACTCTAGTCC -3'
(R):5'- TGCTGAGAGCCGACAGG -3'

Posted On

2019-11-12