Mutagenetix > Incidental Mutation

Incidental Mutation 'R0599:Sgsm1'

55205

Institutional Source

Beutler Lab

Gene Symbol

Sgsm1

Ensembl Gene

ENSMUSG00000042216

Gene Name

small G protein signaling modulator 1

Synonyms

Rutbc2, 2410098H20Rik, D5Bwg1524e

MMRRC Submission

038788-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0599 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

113243220-113310786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 113245028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1087 (Q1087K)

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: Q1087K

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

SMART Domains

Protein: ENSMUSP00000046544
Gene: ENSMUSG00000042216
AA Change: Q1087K

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: Q800K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000084106
Gene: ENSMUSG00000042216
AA Change: Q800K

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

Meta Mutation Damage Score

0.2577

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

98% (80/82)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,552,245	L978P	probably damaging	Het
Abcb1a	C	T	5: 8,698,539	T290M	probably benign	Het
Abcd3	A	T	3: 121,765,093	F585I	probably damaging	Het
Acan	A	G	7: 79,111,290		probably benign	Het
Anxa6	T	C	11: 54,979,466	D667G	possibly damaging	Het
Ap3m2	G	T	8: 22,793,112	A208D	possibly damaging	Het
Arhgap17	A	T	7: 123,303,790		probably benign	Het
Bptf	A	G	11: 107,068,382	V1838A	probably damaging	Het
Brip1	T	A	11: 86,152,737	M334L	probably benign	Het
Btbd10	C	T	7: 113,335,309		probably benign	Het
Btbd11	G	A	10: 85,658,336	G1106D	probably damaging	Het
Cdh7	C	A	1: 110,052,966	T208K	probably damaging	Het
Cnga4	A	G	7: 105,405,818	Y100C	probably damaging	Het
Dnah10	G	A	5: 124,800,953	V2644M	probably damaging	Het
Dnah9	T	C	11: 65,965,689	D2882G	probably damaging	Het
Eapp	T	A	12: 54,685,962	K117M	probably damaging	Het
Eml3	T	C	19: 8,939,063	V673A	probably benign	Het
Ephb4	G	A	5: 137,369,855	C754Y	probably damaging	Het
Eps8l1	A	G	7: 4,477,957	D33G	possibly damaging	Het
Farsa	A	G	8: 84,867,583	K321E	probably damaging	Het
Fry	G	A	5: 150,437,159	R2090Q	probably damaging	Het
Gm10283	A	G	8: 60,501,224		probably benign	Het
Grm4	A	G	17: 27,431,490	I844T	probably benign	Het
Gtf2h3	A	G	5: 124,588,628	D124G	probably benign	Het
Gulo	A	T	14: 65,990,441	D347E	probably damaging	Het
Hmcn1	A	G	1: 150,609,801	F4350S	possibly damaging	Het
Hspg2	A	G	4: 137,512,401	D473G	probably damaging	Het
Il17ra	T	A	6: 120,481,505	I539N	probably damaging	Het
Insrr	A	G	3: 87,813,133	E1026G	probably damaging	Het
Itga2	A	T	13: 114,856,650		probably benign	Het
Kdm1b	A	T	13: 47,058,810	D190V	possibly damaging	Het
Lima1	A	T	15: 99,802,159	N146K	probably damaging	Het
Mettl7a3	A	T	15: 100,335,383	N152Y	possibly damaging	Het
Mnt	G	T	11: 74,842,296	V85L	probably benign	Het
Mon2	T	A	10: 123,026,065		probably benign	Het
Mtf1	T	C	4: 124,820,201		probably benign	Het
Mylk4	T	C	13: 32,712,754		probably null	Het
Myo18b	A	C	5: 112,865,750	L780R	probably damaging	Het
Myo1e	A	G	9: 70,376,660		probably benign	Het
Obscn	A	G	11: 59,073,696	S705P	probably damaging	Het
Ocrl	A	T	X: 47,936,086		probably benign	Het
Olfr1260	T	C	2: 89,978,201	F141S	probably benign	Het
Olfr394	A	T	11: 73,887,904	M156K	probably benign	Het
Olfr599	A	G	7: 103,338,186	N44S	probably damaging	Het
Olfr639	A	T	7: 104,012,188	C171*	probably null	Het
Otof	T	A	5: 30,370,705	K1931N	probably damaging	Het
Plcxd3	A	G	15: 4,516,867	S118G	probably damaging	Het
Plcz1	T	A	6: 140,028,542	Q58L	probably benign	Het
Proser1	C	A	3: 53,479,064	P789Q	probably benign	Het
Rassf4	T	C	6: 116,645,936	E38G	probably damaging	Het
Ros1	A	T	10: 52,123,300	Y1164N	probably damaging	Het
Rpgrip1l	A	G	8: 91,305,000	I83T	probably damaging	Het
Scn9a	T	G	2: 66,526,799	K1053Q	probably damaging	Het
Slc16a10	T	C	10: 40,141,918	D40G	probably benign	Het
Slc27a6	A	G	18: 58,556,813	D117G	probably damaging	Het
Slc2a9	T	A	5: 38,480,144		probably benign	Het
Slc4a1	A	G	11: 102,357,915		probably benign	Het
Smarca1	T	A	X: 47,823,426	Q982L	probably benign	Het
Sp100	T	A	1: 85,681,110	I320N	possibly damaging	Het
Stx8	A	T	11: 68,109,362	R209S	probably null	Het
Sulf2	T	C	2: 166,083,879	T453A	possibly damaging	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,097,960		probably null	Het
Tenm2	T	A	11: 36,024,780	I1976F	possibly damaging	Het
Tenm3	G	A	8: 48,277,710	S1341L	probably damaging	Het
Tmem130	C	T	5: 144,737,809	V369M	probably damaging	Het
Tmem200c	A	G	17: 68,840,511	K30E	probably damaging	Het
Tmem225	A	G	9: 40,149,747	I117V	possibly damaging	Het
Top2a	A	G	11: 99,001,417	I1073T	probably damaging	Het
Trps1	A	C	15: 50,831,860	Y296*	probably null	Het
Tubg1	T	C	11: 101,125,336	M377T	probably benign	Het
Vmn1r35	G	A	6: 66,679,513	H58Y	probably benign	Het
Vmn1r56	G	A	7: 5,196,430	H63Y	probably benign	Het
Vmn1r75	T	C	7: 11,881,262		probably null	Het
Vnn3	T	C	10: 23,865,705	S303P	possibly damaging	Het
Wdr49	C	T	3: 75,431,076		probably null	Het
Wdr49	T	C	3: 75,449,890		probably null	Het
Zcchc6	A	G	13: 59,809,487	V7A	probably damaging	Het
Zzef1	T	C	11: 72,913,178	L2582P	probably 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
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
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'- TTCCTTGCTGGGTGCAGAGGAAAC -3'
(R):5'- TCAGAGTCACTTTGTGGCACCAAC -3'

Sequencing Primer
(F):5'- GATATCCCAGACTTGGGCAATC -3'
(R):5'- AGGCAAAGATGCTCACCAGT -3'

Posted On

2013-07-11