Mutagenetix > Incidental Mutation

Incidental Mutation 'R9722:Sgsm1'

730846

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 #

R9722 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113243220-113310786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113280341 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 327 (H327L)

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

possibly damaging
Transcript: ENSMUST00000048112
AA Change: H327L

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: H327L

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: H40L

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

SMART Domains

Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: H40L

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 damaging
Transcript: ENSMUST00000112324
AA Change: H40L

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

SMART Domains

Protein: ENSMUSP00000107943
Gene: ENSMUSG00000042216
AA Change: H40L

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
AA Change: H327L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216
AA Change: H327L

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
AA Change: H327L

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216
AA Change: H327L

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: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,218,273	I52F	probably benign	Het
Abcc3	A	T	11: 94,359,246	L1017Q	probably damaging	Het
Antxr2	T	C	5: 97,948,327	D366G	possibly damaging	Het
Astn2	C	T	4: 65,913,741	V563I	probably benign	Het
Atrn	C	A	2: 130,961,616	D575E	probably damaging	Het
Baz1a	C	T	12: 54,900,097	D1228N	probably benign	Het
Canx	A	G	11: 50,304,474	S256P	probably benign	Het
Ccnt2	T	A	1: 127,802,188	D267E	probably damaging	Het
Cd209c	G	T	8: 3,945,905	R2S	probably benign	Het
Cyfip2	T	C	11: 46,196,308	T1252A	probably benign	Het
Dchs2	A	G	3: 83,353,994	Y2523C	probably benign	Het
Dmxl2	G	A	9: 54,416,608	P990L	probably benign	Het
Dnajc9	T	C	14: 20,388,211	I108V	probably benign	Het
Eif2d	T	C	1: 131,165,211		probably null	Het
Ephb2	T	C	4: 136,657,457	D881G	probably damaging	Het
Esr1	A	G	10: 5,001,215	N531S	probably benign	Het
Fbxo2	G	A	4: 148,164,426	R125H	probably damaging	Het
Foxred1	C	T	9: 35,206,004	S277N	possibly damaging	Het
Gemin5	T	C	11: 58,150,592	E518G	probably damaging	Het
Gm17655	A	G	5: 110,046,360	Y519H	probably benign	Het
Igkv4-57-1	A	T	6: 69,544,509	W70R	probably damaging	Het
Krtap4-13	A	G	11: 99,809,354	S160P	unknown	Het
Map3k3	A	G	11: 106,142,535	I205V	possibly damaging	Het
Map3k4	A	C	17: 12,271,636	F303V	probably benign	Het
Mpdz	T	C	4: 81,386,267	Q132R	probably damaging	Het
Myo10	T	A	15: 25,801,141	V1472E	probably damaging	Het
Nckap1	G	A	2: 80,571,224	Q39*	probably null	Het
Nog	A	G	11: 89,301,570	S151P	probably damaging	Het
Obox6	G	A	7: 15,834,906	S15F	probably benign	Het
Odf2	A	G	2: 29,923,582	H647R	possibly damaging	Het
Olfr821	A	G	10: 130,033,631	R2G	probably benign	Het
Pcdhga11	T	C	18: 37,757,345	S469P	possibly damaging	Het
Pcnx4	T	C	12: 72,556,265	Y434H	probably damaging	Het
Pfpl	G	C	19: 12,428,933	E183Q	probably damaging	Het
Pglyrp3	A	G	3: 92,031,388	K290R	possibly damaging	Het
Phactr3	G	A	2: 178,256,250	E86K	probably damaging	Het
Piezo1	A	C	8: 122,498,758	L530R		Het
Pigg	A	T	5: 108,347,901	I935F	possibly damaging	Het
Pofut2	T	C	10: 77,266,925	S282P	possibly damaging	Het
Ppfia1	A	G	7: 144,517,665	S337P	probably benign	Het
Sdr16c5	A	T	4: 4,005,595	D246E	probably benign	Het
Slc39a4	A	G	15: 76,616,011	I113T	possibly damaging	Het
Slc5a7	A	G	17: 54,296,957		probably null	Het
Snx11	A	G	11: 96,771,099	S86P	probably benign	Het
Srm	T	A	4: 148,591,788		probably null	Het
Tas2r126	T	C	6: 42,435,148	I205T	possibly damaging	Het
Tek	T	G	4: 94,804,302	W216G	possibly damaging	Het
Tenm3	A	T	8: 48,300,814	S851R	probably benign	Het
Tnip2	A	G	5: 34,496,868	V288A	probably benign	Het
Tpx2	T	A	2: 152,891,556		probably null	Het
Trim33	C	A	3: 103,353,830	T1115K	possibly damaging	Het
Tspan13	T	A	12: 36,024,018	I40F	probably damaging	Het
Ube2v2	T	C	16: 15,577,035	I91V	probably benign	Het
Vmn1r22	A	T	6: 57,900,646	F115L	probably benign	Het
Vmn2r7	G	A	3: 64,690,986	P717S	probably damaging	Het
Zan	T	C	5: 137,389,062	T4910A	unknown	Het
Zfp599	T	A	9: 22,249,445	T475S	probably damaging	Het
Zfp638	T	A	6: 83,946,319	F700I	probably damaging	Het
Zfp985	A	C	4: 147,583,161	K162T	possibly damaging	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
R9461:Sgsm1	UTSW	5	113276032	critical splice donor site	probably null
R9662:Sgsm1	UTSW	5	113279231	missense	probably benign	0.03
R9726:Sgsm1	UTSW	5	113310552	missense	probably benign
Z1177:Sgsm1	UTSW	5	113282710	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAGAGCTGGCACACTCAG -3'
(R):5'- ACTTGGCAGAGTTGAGCTC -3'

Sequencing Primer
(F):5'- CACTCAGAGAAATAATGCAGTTTGC -3'
(R):5'- GTTGAGCTCCGGTAACTTCATAGAC -3'

Posted On

2022-10-06