Mutagenetix > Incidental Mutation

Incidental Mutation 'R0919:Sgsm1'

81580

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, 2410098H20Rik, D5Bwg1524e

MMRRC Submission

039069-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113243220-113310786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113258842 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 923 (V923I)

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: V923I

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

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: V923I

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

possibly damaging
Transcript: ENSMUST00000057209
AA Change: V636I

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: V636I

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

noncoding transcript
Transcript: ENSMUST00000145708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147856

Meta Mutation Damage Score

0.3499

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.6%

Validation Efficiency

96% (43/45)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610301B20Rik	A	G	4: 10,882,462 (GRCm38)	T124A	probably benign	Het
Alpk2	C	A	18: 65,307,473 (GRCm38)	C283F	probably benign	Het
Anapc1	T	C	2: 128,617,731 (GRCm38)	R1803G	probably benign	Het
Anapc4	T	C	5: 52,855,637 (GRCm38)	V423A	probably benign	Het
Arfgef3	A	G	10: 18,589,735 (GRCm38)	I2120T	possibly damaging	Het
Btaf1	T	A	19: 36,990,743 (GRCm38)	H1109Q	probably benign	Het
Cfap70	G	A	14: 20,404,164 (GRCm38)	P851S	probably benign	Het
Clcf1	T	A	19: 4,222,198 (GRCm38)	L103Q	probably damaging	Het
Col11a2	T	A	17: 34,059,150 (GRCm38)	V1032E	possibly damaging	Het
Cyp2c38	T	G	19: 39,404,669 (GRCm38)	D318A	probably benign	Het
Dbpht2	A	G	12: 74,299,000 (GRCm38)		noncoding transcript	Het
Dhx34	A	C	7: 16,201,958 (GRCm38)	V893G	probably damaging	Het
Fsip2	T	A	2: 82,985,484 (GRCm38)	C3854S	possibly damaging	Het
Htr1a	T	C	13: 105,444,836 (GRCm38)	Y195H	probably damaging	Het
Insr	A	G	8: 3,158,769 (GRCm38)	S1231P	probably damaging	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Kpna4	A	T	3: 69,085,828 (GRCm38)		probably benign	Het
Olfr1032	A	G	2: 86,008,640 (GRCm38)	Y288C	possibly damaging	Het
Olfr607	A	G	7: 103,460,812 (GRCm38)	I132T	probably damaging	Het
Olfr671	A	T	7: 104,975,312 (GRCm38)	Y228*	probably null	Het
Osbpl7	G	A	11: 97,056,101 (GRCm38)	R239H	possibly damaging	Het
Prkce	G	A	17: 86,630,160 (GRCm38)	V674I	probably benign	Het
Prkrip1	T	C	5: 136,197,831 (GRCm38)	M52V	possibly damaging	Het
Sash1	A	G	10: 8,730,079 (GRCm38)	M849T	probably benign	Het
Scaf8	T	C	17: 3,197,120 (GRCm38)	L906S	probably damaging	Het
Sfmbt2	T	C	2: 10,577,571 (GRCm38)	L676P	probably benign	Het
Slc38a3	A	T	9: 107,655,959 (GRCm38)	L305Q	probably damaging	Het
Slc44a5	A	G	3: 154,243,586 (GRCm38)	Y232C	probably damaging	Het
Spag17	A	T	3: 100,071,943 (GRCm38)		probably benign	Het
Synm	T	C	7: 67,735,347 (GRCm38)	I414V	probably damaging	Het
Tbc1d12	C	T	19: 38,914,049 (GRCm38)	H551Y	possibly damaging	Het
Timm21	G	C	18: 84,949,262 (GRCm38)	L130V	probably damaging	Het
Trpc7	C	T	13: 56,822,649 (GRCm38)		probably benign	Het
Trpm7	G	A	2: 126,831,238 (GRCm38)	R532C	probably damaging	Het
Ttn	T	A	2: 76,946,742 (GRCm38)	K1485*	probably null	Het
Txn2	T	C	15: 77,927,749 (GRCm38)	D69G	probably damaging	Het
U2af2	C	T	7: 5,069,434 (GRCm38)		probably benign	Het
Ubn1	T	C	16: 5,064,391 (GRCm38)	Y239H	probably damaging	Het
Ubtf	A	G	11: 102,309,777 (GRCm38)		probably benign	Het
Usp49	T	A	17: 47,672,451 (GRCm38)	V127D	probably benign	Het
Washc2	C	T	6: 116,208,264 (GRCm38)	R20W	probably damaging	Het
Zscan10	T	C	17: 23,610,007 (GRCm38)	S476P	probably 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
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
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'- TGGTAGACCTCATCCTGAGACACTG -3'
(R):5'- TGATCCCATGATAGCACCCCAGAG -3'

Sequencing Primer
(F):5'- GACACAAGGATGTCTCATGTTGC -3'
(R):5'- AGAGTCCTGTGCTCAGCAATG -3'

Posted On

2013-11-07