Mutagenetix > Incidental Mutation

Incidental Mutation 'R9461:Sgsm1'

714859

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, 2410098H20Rik, D5Bwg1524e

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9461 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113243220-113310786 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 113276032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000048112

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216

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 benign
Transcript: ENSMUST00000112325

SMART Domains

Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216

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 benign
Transcript: ENSMUST00000154248

SMART Domains

Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216

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: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Abhd18	A	T	3: 40,904,884		probably null	Het
Aox1	G	A	1: 58,077,577		probably null	Het
Arpp21	C	A	9: 112,136,636	R422L	probably damaging	Het
Ccdc190	G	A	1: 169,933,920	G197D	probably benign	Het
Cdc42bpa	G	T	1: 180,142,296	L1243F	probably damaging	Het
Ces2b	T	A	8: 104,837,379	F462I	probably benign	Het
Cfap45	A	G	1: 172,535,327	E295G	possibly damaging	Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Col24a1	G	T	3: 145,481,124	E1227*	probably null	Het
Col5a1	A	T	2: 28,032,604	D1717V	unknown	Het
Dab2	T	C	15: 6,430,954	S448P	possibly damaging	Het
Dnajb1	T	C	8: 83,608,544		probably null	Het
Dock9	C	T	14: 121,605,189	G1223D	probably benign	Het
Elp2	A	G	18: 24,632,812	R670G	probably damaging	Het
Eppk1	T	C	15: 76,110,468	I738V	probably benign	Het
Gas2l2	T	A	11: 83,422,205	R760S	probably damaging	Het
Gm7534	G	A	4: 134,202,001	P331L	probably benign	Het
H1fnt	C	T	15: 98,257,257	A4T	probably damaging	Het
Kif17	G	A	4: 138,277,942	V273I	probably damaging	Het
Klhdc4	T	C	8: 121,799,485	D336G	probably damaging	Het
Lmod2	A	G	6: 24,603,569	N181S	probably benign	Het
Lrp8	G	A	4: 107,843,318	G151D	possibly damaging	Het
Mb21d2	C	T	16: 28,828,509	V238M	probably damaging	Het
Mfsd4b3	T	G	10: 39,947,251	I338L	probably benign	Het
Nkain2	C	T	10: 32,890,129	A112T	unknown	Het
Olfr1445	T	A	19: 12,884,511	V210E	possibly damaging	Het
Olfr152	A	G	2: 87,782,539	I2V	probably benign	Het
Olfr295	T	A	7: 86,586,039	Y255N	possibly damaging	Het
Olfr667	T	A	7: 104,916,376	I307F	probably benign	Het
Pacs2	A	G	12: 113,047,107	I126V	probably benign	Het
Phyhipl	T	C	10: 70,559,413	Y321C	possibly damaging	Het
Ppm1k	T	C	6: 57,510,735	S368G	probably damaging	Het
Ranbp6	T	C	19: 29,809,763	D1063G	possibly damaging	Het
Sars2	T	C	7: 28,750,013	M322T	probably benign	Het
Serbp1	G	A	6: 67,267,329	R78H	probably benign	Het
Sfxn2	T	A	19: 46,585,753	N127K	probably damaging	Het
Slc22a22	T	C	15: 57,244,946	Y491C	probably damaging	Het
Slc22a22	T	A	15: 57,263,656	I6F	probably damaging	Het
Smpd1	C	T	7: 105,555,582	L223F	probably damaging	Het
Spem1	T	C	11: 69,820,915	K308E	probably benign	Het
Spsb1	A	T	4: 149,906,450	C220*	probably null	Het
Syngap1	T	A	17: 26,954,988	S190R	possibly damaging	Het
Tarsl2	T	C	7: 65,689,971	S705P	possibly damaging	Het
Tbc1d16	G	T	11: 119,153,955	F553L	probably damaging	Het
Thbs2	A	G	17: 14,690,173	Y55H	probably damaging	Het
Tmem220	T	C	11: 67,034,153	I138T	possibly damaging	Het
Txnl1	T	C	18: 63,676,979	N131S	probably benign	Het
Vat1	T	C	11: 101,463,020	T175A	possibly damaging	Het
Veph1	T	A	3: 66,121,645	D651V	probably benign	Het
Zcchc6	G	A	13: 59,815,698	T282I	probably damaging	Het
Zfp281	T	A	1: 136,626,762	S493T	probably benign	Het

Other mutations in Sgsm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Sgsm1	APN	5	113245064	missense	probably benign	0.00
IGL00503:Sgsm1	APN	5	113276142	missense	probably benign	0.00
IGL01377:Sgsm1	APN	5	113276182	splice site	probably benign
IGL01602:Sgsm1	APN	5	113285665	missense	possibly damaging	0.92
IGL01605:Sgsm1	APN	5	113285665	missense	possibly damaging	0.92
IGL01669:Sgsm1	APN	5	113263490	missense	probably benign
IGL01920:Sgsm1	APN	5	113273605	missense	probably damaging	1.00
IGL01951:Sgsm1	APN	5	113286767	splice site	probably benign
IGL02387:Sgsm1	APN	5	113253063	missense	possibly damaging	0.93
IGL02690:Sgsm1	APN	5	113286767	splice site	probably benign
IGL03177:Sgsm1	APN	5	113250993	missense	probably damaging	1.00
IGL03186:Sgsm1	APN	5	113285021	missense	probably benign	0.00
IGL03398:Sgsm1	APN	5	113255316	missense	possibly damaging	0.67
caliente	UTSW	5	113280462	intron	probably benign
Chili	UTSW	5	113258123	intron	probably benign
pimiento	UTSW	5	113263257	missense	probably benign	0.15
R0048:Sgsm1	UTSW	5	113268750	missense	probably damaging	1.00
R0058:Sgsm1	UTSW	5	113285087	missense	probably damaging	1.00
R0058:Sgsm1	UTSW	5	113285087	missense	probably damaging	1.00
R0082:Sgsm1	UTSW	5	113288836	missense	probably benign	0.01
R0085:Sgsm1	UTSW	5	113279270	splice site	probably benign
R0099:Sgsm1	UTSW	5	113274360	splice site	probably benign
R0269:Sgsm1	UTSW	5	113286929	critical splice acceptor site	probably null
R0310:Sgsm1	UTSW	5	113263705	missense	probably benign	0.00
R0325:Sgsm1	UTSW	5	113288835	missense	probably damaging	0.99
R0420:Sgsm1	UTSW	5	113263759	missense	probably benign	0.16
R0594:Sgsm1	UTSW	5	113310562	missense	probably benign	0.00
R0599:Sgsm1	UTSW	5	113245028	missense	probably damaging	1.00
R0631:Sgsm1	UTSW	5	113285123	splice site	probably benign
R0744:Sgsm1	UTSW	5	113279184	missense	probably benign	0.38
R0833:Sgsm1	UTSW	5	113279184	missense	probably benign	0.38
R0919:Sgsm1	UTSW	5	113258842	missense	probably damaging	1.00
R0944:Sgsm1	UTSW	5	113265874	missense	probably benign	0.40
R1169:Sgsm1	UTSW	5	113279485	missense	probably damaging	1.00
R1232:Sgsm1	UTSW	5	113273711	nonsense	probably null
R1473:Sgsm1	UTSW	5	113263257	missense	probably benign	0.15
R1535:Sgsm1	UTSW	5	113263269	missense	possibly damaging	0.93
R1796:Sgsm1	UTSW	5	113273617	missense	possibly damaging	0.58
R1878:Sgsm1	UTSW	5	113263515	missense	probably damaging	0.97
R2084:Sgsm1	UTSW	5	113285400	missense	probably damaging	1.00
R3855:Sgsm1	UTSW	5	113263259	missense	probably benign	0.01
R3856:Sgsm1	UTSW	5	113263259	missense	probably benign	0.01
R4294:Sgsm1	UTSW	5	113285404	missense	probably damaging	1.00
R4373:Sgsm1	UTSW	5	113258123	intron	probably benign
R4558:Sgsm1	UTSW	5	113258111	intron	probably benign
R4610:Sgsm1	UTSW	5	113255307	missense	probably damaging	1.00
R4667:Sgsm1	UTSW	5	113260047	critical splice donor site	probably null
R4838:Sgsm1	UTSW	5	113282626	missense	probably damaging	1.00
R4890:Sgsm1	UTSW	5	113280462	intron	probably benign
R4992:Sgsm1	UTSW	5	113282620	missense	possibly damaging	0.89
R5366:Sgsm1	UTSW	5	113251039	missense	possibly damaging	0.91
R5776:Sgsm1	UTSW	5	113250957	missense	probably damaging	1.00
R5813:Sgsm1	UTSW	5	113250956	missense	probably damaging	1.00
R6000:Sgsm1	UTSW	5	113286838	missense	probably damaging	1.00
R6354:Sgsm1	UTSW	5	113282656	missense	probably damaging	0.99
R6440:Sgsm1	UTSW	5	113279131	critical splice donor site	probably null
R6831:Sgsm1	UTSW	5	113280380	missense	probably damaging	0.97
R7307:Sgsm1	UTSW	5	113273646	missense	probably benign	0.00
R7309:Sgsm1	UTSW	5	113268846	splice site	probably null
R7387:Sgsm1	UTSW	5	113263700	missense	probably damaging	1.00
R7439:Sgsm1	UTSW	5	113274321	missense	probably damaging	0.99
R7485:Sgsm1	UTSW	5	113279635	splice site	probably null
R7624:Sgsm1	UTSW	5	113274335	nonsense	probably null
R7632:Sgsm1	UTSW	5	113276082	missense	possibly damaging	0.54
R7669:Sgsm1	UTSW	5	113253024	missense	probably damaging	1.00
R7727:Sgsm1	UTSW	5	113274327	missense	possibly damaging	0.95
R7732:Sgsm1	UTSW	5	113266330	missense	probably benign	0.26
R7961:Sgsm1	UTSW	5	113282644	missense	probably damaging	1.00
R8088:Sgsm1	UTSW	5	113255268	missense	probably damaging	1.00
R8213:Sgsm1	UTSW	5	113251011	missense	probably damaging	1.00
R8278:Sgsm1	UTSW	5	113260092	missense	probably damaging	0.98
R8480:Sgsm1	UTSW	5	113263418	missense	probably benign	0.01
R8796:Sgsm1	UTSW	5	113263257	missense	probably benign	0.15
R8816:Sgsm1	UTSW	5	113287231	missense	probably damaging	1.00
R8904:Sgsm1	UTSW	5	113273629	missense	probably benign	0.00
R8905:Sgsm1	UTSW	5	113273629	missense	probably benign	0.00
R8952:Sgsm1	UTSW	5	113284995	missense	probably damaging	1.00
R9046:Sgsm1	UTSW	5	113288859	missense	probably damaging	1.00
R9162:Sgsm1	UTSW	5	113282711	missense	probably damaging	1.00
R9249:Sgsm1	UTSW	5	113280335	missense	possibly damaging	0.86
R9375:Sgsm1	UTSW	5	113274273	missense	unknown
R9377:Sgsm1	UTSW	5	113288875	missense	probably damaging	1.00
R9662:Sgsm1	UTSW	5	113279231	missense	probably benign	0.03
R9722:Sgsm1	UTSW	5	113280341	missense	possibly damaging	0.75
R9726:Sgsm1	UTSW	5	113310552	missense	probably benign
Z1177:Sgsm1	UTSW	5	113282710	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTGTTACTGCAGCAGAAC -3'
(R):5'- ACCAAGGTTATCGCTGAGCC -3'

Sequencing Primer
(F):5'- TGCAGCAGAACGTTATCCTG -3'
(R):5'- GTTATCGCTGAGCCCCCTTTC -3'

Posted On

2022-06-15