Mutagenetix > Incidental Mutation

Incidental Mutation 'R8952:Sgsm1'

681699

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, D5Bwg1524e, 2410098H20Rik

MMRRC Submission

068714-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8952 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113391086-113458652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113432861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 262 (N262K)

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: N262K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: N262K

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: N262K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216
AA Change: N262K

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: N262K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216
AA Change: N262K

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: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	T	A	7: 26,900,025 (GRCm39)	S134T	probably damaging	Het
Adamts12	A	G	15: 11,286,065 (GRCm39)	N758S	probably damaging	Het
Asb3	C	A	11: 31,008,959 (GRCm39)	Q287K	probably damaging	Het
Bach1	T	A	16: 87,512,353 (GRCm39)	N25K	probably damaging	Het
Carmil2	T	A	8: 106,417,398 (GRCm39)	V552E	possibly damaging	Het
Cyth4	A	G	15: 78,486,937 (GRCm39)	I22V	probably benign	Het
Dock3	A	G	9: 106,850,958 (GRCm39)	F848S	probably benign	Het
Dytn	G	A	1: 63,698,111 (GRCm39)	R299C		Het
Fbxl18	C	T	5: 142,871,502 (GRCm39)	A578T	probably damaging	Het
Galr1	C	T	18: 82,411,909 (GRCm39)	C319Y	probably damaging	Het
Gstm7	T	C	3: 107,838,757 (GRCm39)		probably benign	Het
Hspa1l	G	T	17: 35,196,946 (GRCm39)	M328I	probably benign	Het
Itgad	A	T	7: 127,789,324 (GRCm39)	Y596F	probably damaging	Het
Krt19	T	A	11: 100,031,768 (GRCm39)	N395Y	possibly damaging	Het
Lrit1	G	A	14: 36,783,664 (GRCm39)	A331T	probably damaging	Het
Mmp1b	C	T	9: 7,386,346 (GRCm39)	V192I	possibly damaging	Het
Mrc1	C	T	2: 14,253,735 (GRCm39)	A252V	probably damaging	Het
Mucl2	C	T	15: 103,929,445 (GRCm39)		probably null	Het
Nbeal1	A	G	1: 60,299,459 (GRCm39)	D1265G	probably benign	Het
Ndc1	T	C	4: 107,247,623 (GRCm39)	I477T	probably benign	Het
Neo1	A	G	9: 58,897,545 (GRCm39)	F137S	probably benign	Het
Nos2	A	G	11: 78,836,089 (GRCm39)	N384S	probably benign	Het
Nup133	T	C	8: 124,634,500 (GRCm39)	I1031V	probably damaging	Het
Nup98	A	G	7: 101,835,859 (GRCm39)	Y195H	probably damaging	Het
Obscn	C	T	11: 59,026,960 (GRCm39)	C81Y	probably damaging	Het
Or1j10	A	G	2: 36,267,402 (GRCm39)	I205V	probably benign	Het
Pfn2	T	C	3: 57,752,756 (GRCm39)	D55G	probably damaging	Het
Pif1	A	G	9: 65,499,499 (GRCm39)	K485R	probably damaging	Het
Polr1e	A	G	4: 45,018,727 (GRCm39)	E19G	probably damaging	Het
Prkdc	T	A	16: 15,491,624 (GRCm39)		probably benign	Het
Proca1	A	C	11: 78,095,773 (GRCm39)	H135P	probably benign	Het
Psd	T	C	19: 46,310,900 (GRCm39)	K383R	probably damaging	Het
Ptcd1	A	G	5: 145,091,944 (GRCm39)	L385P	probably damaging	Het
Ptpra	T	G	2: 130,386,969 (GRCm39)	I620S	probably damaging	Het
Rad54l2	T	A	9: 106,566,050 (GRCm39)		probably benign	Het
Stat1	G	T	1: 52,187,042 (GRCm39)	V450F	probably benign	Het
Thada	G	A	17: 84,736,524 (GRCm39)	T919I	probably benign	Het
Thsd7a	A	T	6: 12,468,992 (GRCm39)	L529I	probably damaging	Het
Ttn	A	G	2: 76,748,863 (GRCm39)	V4062A	probably benign	Het
Usp9y	A	C	Y: 1,332,662 (GRCm39)		probably benign	Het
Vmn2r98	A	G	17: 19,285,531 (GRCm39)	Y117C	possibly damaging	Het
Wdr33	A	T	18: 31,960,393 (GRCm39)	H19L	possibly damaging	Het
Wdr76	C	A	2: 121,372,899 (GRCm39)	H575Q	probably benign	Het
Xab2	A	G	8: 3,663,875 (GRCm39)	V348A	probably damaging	Het
Zfhx2	A	T	14: 55,310,207 (GRCm39)	Y780N	possibly damaging	Het
Zmynd12	T	C	4: 119,302,081 (GRCm39)		probably null	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
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
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'- ACTGCCATGTGCCCTTATAG -3'
(R):5'- ACTGTGGTCACTGCCTCATAC -3'

Sequencing Primer
(F):5'- CACTGCTGGGACAATGAAGC -3'
(R):5'- GGTCACTGCCTCATACCTCCC -3'

Posted On

2021-08-31