Mutagenetix > Incidental Mutation

Incidental Mutation 'R9377:Sgsm1'

709684

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, 2410098H20Rik, D5Bwg1524e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9377 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113243220-113310786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 113288875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 30 (V30F)

Ref Sequence

ENSEMBL: ENSMUSP00000046544 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048112
AA Change: V30F

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

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: V30F

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: ENSMUST00000112325
AA Change: V30F

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

SMART Domains

Protein: ENSMUSP00000107944
Gene: ENSMUSG00000042216
AA Change: V30F

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

possibly damaging
Transcript: ENSMUST00000154248
AA Change: V30F

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114932
Gene: ENSMUSG00000042216
AA Change: V30F

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: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,037,464	T55A	probably benign	Het
3110070M22Rik	T	A	13: 119,488,286		probably benign	Het
Acot12	T	A	13: 91,770,102	N171K	probably benign	Het
Adam18	G	A	8: 24,614,843	Q652*	probably null	Het
Adgrv1	T	C	13: 81,557,158	E791G	probably damaging	Het
Aff1	C	T	5: 103,833,819	S608L	probably damaging	Het
Amfr	A	T	8: 93,980,390	F432L	probably damaging	Het
Ankfn1	G	A	11: 89,441,458	L421F	possibly damaging	Het
Ankrd31	T	C	13: 96,878,225	V1334A	probably benign	Het
Ascc3	C	T	10: 50,732,762	H1534Y	possibly damaging	Het
Aste1	G	A	9: 105,396,681	C40Y	probably benign	Het
Atf3	T	C	1: 191,177,313	H53R	probably benign	Het
Bsn	C	A	9: 108,113,601	V1651F	probably damaging	Het
Bsn	A	T	9: 108,116,162	L797Q	probably damaging	Het
Bzw2	T	C	12: 36,130,132	D32G	probably damaging	Het
Cacna1e	A	T	1: 154,485,712	M531K	possibly damaging	Het
Cep120	A	G	18: 53,718,520	F567L	possibly damaging	Het
Cit	T	C	5: 115,946,855	I815T	probably benign	Het
Cnot6l	G	T	5: 96,128,967	Q121K	probably benign	Het
Col4a2	G	A	8: 11,433,725	G882R	probably damaging	Het
Col6a3	A	G	1: 90,816,239	F536L	probably damaging	Het
Copg2	T	A	6: 30,816,786	H394L	possibly damaging	Het
Cst13	A	G	2: 148,828,245	M112V	possibly damaging	Het
Cyp2j7	G	T	4: 96,236,549	N37K	probably benign	Het
Cyp2u1	T	A	3: 131,297,800	N357I	possibly damaging	Het
Dars	T	C	1: 128,417,208	T4A	probably benign	Het
Dclk1	G	T	3: 55,521,953	C414F	possibly damaging	Het
Dmbt1	A	T	7: 131,093,102	Y1009F	unknown	Het
Ebf4	T	C	2: 130,306,855	Y117H	probably damaging	Het
Eif2b4	A	G	5: 31,191,156	Y196H	probably benign	Het
Enpp2	C	T	15: 54,875,684	R401H	probably damaging	Het
Epo	T	C	5: 137,485,755		probably benign	Het
Gli1	T	A	10: 127,337,490	T100S	possibly damaging	Het
Gml2	T	A	15: 74,824,108	F117Y	probably benign	Het
Hivep1	T	C	13: 42,181,927	V2314A	probably benign	Het
Hspb8	A	G	5: 116,409,428	I165T	probably damaging	Het
Itgax	A	T	7: 128,133,677	T243S	probably benign	Het
Itih4	G	T	14: 30,886,576	L16F	probably damaging	Het
Kmt5a	C	T	5: 124,440,001		probably benign	Het
Lamc1	T	C	1: 153,239,263	E1089G	probably benign	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Mcmbp	A	T	7: 128,716,079	N147K	probably benign	Het
Micalcl	C	T	7: 112,382,039	L407F	probably benign	Het
Mybpc2	A	T	7: 44,509,575	V653D	probably benign	Het
Myo3b	G	A	2: 70,238,898	V522I	possibly damaging	Het
Nbr1	A	G	11: 101,565,764	T156A	possibly damaging	Het
Neb	T	A	2: 52,149,279		probably null	Het
Neb	T	A	2: 52,226,534	Y964F		Het
Nr2f2	T	A	7: 70,358,108	I209F	probably damaging	Het
Nwd2	A	G	5: 63,800,397	T357A	probably damaging	Het
Palld	C	T	8: 61,516,657	R1211H	unknown	Het
Pcdhb19	T	A	18: 37,499,246	V698E	probably damaging	Het
Pcdhga6	C	T	18: 37,708,517	P430L	probably damaging	Het
Piezo2	A	G	18: 63,029,085	L2225S	possibly damaging	Het
Plekhf1	A	T	7: 38,221,779	W122R	probably damaging	Het
Pold3	A	G	7: 100,083,786	S418P	possibly damaging	Het
Poldip3	T	C	15: 83,135,388	N180S	probably benign	Het
Ppp1r21	C	T	17: 88,545,387	R65*	probably null	Het
Ppp1r3d	A	T	2: 178,413,876	V111E	probably damaging	Het
Prrg4	T	C	2: 104,839,383	I130V	probably benign	Het
Psma5	A	T	3: 108,265,132	T55S	probably benign	Het
Rbm5	C	A	9: 107,750,053	A440S	probably benign	Het
Rdx	A	G	9: 52,068,868	K254E	possibly damaging	Het
Rere	A	C	4: 150,508,885	Q312P	unknown	Het
Rest	T	C	5: 77,268,281	V114A	possibly damaging	Het
Rufy4	G	T	1: 74,132,720	V201L	probably benign	Het
Scyl1	T	C	19: 5,758,995	E727G	probably benign	Het
Serpinb6b	T	A	13: 32,968,511	M1K	probably null	Het
Skap1	A	G	11: 96,754,095	D344G	possibly damaging	Het
Slc26a7	T	C	4: 14,516,189	T547A	probably benign	Het
Slc6a3	C	A	13: 73,544,847	S195R	probably benign	Het
Sorbs1	T	C	19: 40,398,604	D6G	probably damaging	Het
Spock3	A	T	8: 63,345,712	M253L	probably damaging	Het
Ssh2	A	G	11: 77,408,148	Y107C	possibly damaging	Het
Svil	T	C	18: 5,057,294	S581P	probably benign	Het
Tbc1d14	T	C	5: 36,505,128	T553A	probably benign	Het
Tet3	T	A	6: 83,403,614	Q524L	possibly damaging	Het
Uckl1	A	T	2: 181,569,739	V456E	probably damaging	Het
Ucp2	T	C	7: 100,496,833	F4S	probably benign	Het
Vmn2r77	A	G	7: 86,795,234	I32V	probably benign	Het
Vmn2r89	T	A	14: 51,455,144	Y135N	probably benign	Het
Vtn	A	G	11: 78,499,761	E82G	probably benign	Het
Zfp758	A	G	17: 22,374,944	N137S	probably benign	Het
Zgpat	T	A	2: 181,379,853	C357*	probably null	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
R9461:Sgsm1	UTSW	5	113276032	critical splice donor site	probably null
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'- GGGATCCCGAAATAACTCCAG -3'
(R):5'- TTCTGGAAGAGGTGACAGACC -3'

Sequencing Primer
(F):5'- CAGAGTCACAAAGCCCGGTG -3'
(R):5'- GGTGACAGACCTCCATGCAAATTAAG -3'

Posted On

2022-04-18