Mutagenetix > Incidental Mutation

Incidental Mutation 'R7961:Sgsm1'

650107

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, 2410098H20Rik, D5Bwg1524e

MMRRC Submission

046005-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113243220-113310786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113282644 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 292 (T292A)

Ref Sequence

ENSEMBL: ENSMUSP00000046544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048112] [ENSMUST00000057209] [ENSMUST00000112324] [ENSMUST00000112325] [ENSMUST00000154248]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048112
AA Change: T292A

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

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: T292A

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

probably damaging
Transcript: ENSMUST00000112325
AA Change: T292A

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

SMART Domains

Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216
AA Change: T292A

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 damaging
Transcript: ENSMUST00000154248
AA Change: T292A

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

SMART Domains

Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216
AA Change: T292A

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

94% (44/47)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,828,870 (GRCm38)	N751K	possibly damaging	Het
Bckdha	G	A	7: 25,631,478 (GRCm38)	R288W	probably damaging	Het
Ccng1	G	A	11: 40,751,269 (GRCm38)	H229Y	probably benign	Het
Cenpn	C	A	8: 116,937,237 (GRCm38)	T256N	probably benign	Het
Ciart	A	G	3: 95,881,317 (GRCm38)	V70A	possibly damaging	Het
Clcc1	A	G	3: 108,661,458 (GRCm38)	N36S	probably damaging	Het
Cntnap1	G	A	11: 101,178,295 (GRCm38)	A192T	probably benign	Het
Dmrt1	T	A	19: 25,545,881 (GRCm38)	S199T	possibly damaging	Het
Dmrt3	T	C	19: 25,610,908 (GRCm38)	V37A	possibly damaging	Het
Dock1	T	A	7: 134,745,057 (GRCm38)	D239E	possibly damaging	Het
Dyrk3	A	G	1: 131,136,258 (GRCm38)		probably null	Het
Engase	A	G	11: 118,486,860 (GRCm38)	D571G	possibly damaging	Het
Gm45871	C	T	18: 90,591,759 (GRCm38)	H374Y	probably damaging	Het
Icam5	T	C	9: 21,038,755 (GRCm38)	V870A	possibly damaging	Het
Idh2	T	C	7: 80,098,253 (GRCm38)	H233R	probably benign	Het
Kcna5	A	G	6: 126,533,554 (GRCm38)	L537P	probably benign	Het
Krt71	T	C	15: 101,735,442 (GRCm38)	I454V	probably damaging	Het
Krtap5-4	C	T	7: 142,303,934 (GRCm38)	Q114*	probably null	Het
Loxl3	T	C	6: 83,050,809 (GRCm38)	F734S	possibly damaging	Het
Lpcat1	C	T	13: 73,511,379 (GRCm38)	T420I	probably damaging	Het
Mia2	T	A	12: 59,159,639 (GRCm38)		probably null	Het
Neurod4	A	T	10: 130,270,487 (GRCm38)	V306D	possibly damaging	Het
Nkiras2	A	T	11: 100,619,802 (GRCm38)		probably benign	Het
Nrp2	C	T	1: 62,745,408 (GRCm38)	R239C	probably damaging	Het
Ntrk3	T	A	7: 78,453,328 (GRCm38)	D408V	probably benign	Het
Nubpl	T	A	12: 52,181,297 (GRCm38)	L168*	probably null	Het
Odf1	A	G	15: 38,226,596 (GRCm38)	I247V	unknown	Het
Or4c35	A	G	2: 89,977,787 (GRCm38)	Q3R	probably benign	Het
Or4k48	G	A	2: 111,645,937 (GRCm38)	S20F	probably damaging	Het
Or5d41	C	A	2: 88,224,689 (GRCm38)	M114I	possibly damaging	Het
Pcsk1	T	C	13: 75,126,839 (GRCm38)	S516P	probably benign	Het
Pikfyve	A	G	1: 65,255,134 (GRCm38)	D1411G	probably damaging	Het
Polm	T	C	11: 5,830,155 (GRCm38)	D294G	possibly damaging	Het
Ppcs	A	T	4: 119,419,065 (GRCm38)	S281T	probably benign	Het
Pramel34	T	C	5: 93,636,684 (GRCm38)	D307G	probably damaging	Het
Pspc1	G	A	14: 56,771,847 (GRCm38)	Q177*	probably null	Het
Rbm33	G	A	5: 28,394,608 (GRCm38)	G185R		Het
Satb2	A	G	1: 56,871,758 (GRCm38)	S243P	probably benign	Het
Serinc5	T	C	13: 92,661,191 (GRCm38)		probably null	Het
Smad3	G	A	9: 63,650,282 (GRCm38)	R420C	possibly damaging	Het
Sntg1	C	T	1: 8,363,570 (GRCm38)	V486I	probably damaging	Het
Tep1	A	G	14: 50,824,230 (GRCm38)	S2610P	possibly damaging	Het
Tmem200a	A	G	10: 25,994,006 (GRCm38)	S122P	probably damaging	Het
Tnks2	T	A	19: 36,852,501 (GRCm38)	M194K	probably benign	Het
Trav14d-3-dv8	A	C	14: 53,078,767 (GRCm38)	Q28P	probably damaging	Het
Trpm5	T	C	7: 143,080,369 (GRCm38)	E700G	probably benign	Het
Ubqln3	T	A	7: 104,142,590 (GRCm38)	I98L	probably benign	Het
Usp25	A	G	16: 77,059,262 (GRCm38)	I248V	probably damaging	Het
Vmn1r28	T	C	6: 58,265,193 (GRCm38)	V7A	probably benign	Het
Zfp60	G	A	7: 27,748,456 (GRCm38)	G183D	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
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'- GTTCCTTCTGAAGCTACAGCAG -3'
(R):5'- ACTGCAGGTGGTTTCTCTGC -3'

Sequencing Primer
(F):5'- CTACAGCAGCAGGGAGGC -3'
(R):5'- CTGCTCGCTGGGCTTATGC -3'

Posted On

2020-09-15