Mutagenetix > Incidental Mutations

Incidental Mutation 'R0267:Sgsm3'

35019

Institutional Source

Beutler Lab

Gene Symbol

Sgsm3

Ensembl Gene

ENSMUSG00000042303

Gene Name

small G protein signaling modulator 3

Synonyms

CIP85, Rutbc3, 1810012I01Rik

MMRRC Submission

038493-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R0267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80977765-81012290 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 81006602 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 119 (M119R)

Ref Sequence

ENSEMBL: ENSMUSP00000122543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000137004] [ENSMUST00000137255] [ENSMUST00000139517] [ENSMUST00000143147] [ENSMUST00000229727] [ENSMUST00000228971]

PDB Structure

Solution structure of the SH3 domain of mouse RUN and TBC1 domain containing 3 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000042506
AA Change: M129R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043311
Gene: ENSMUSG00000103565
AA Change: M129R

Domain	Start	End	E-Value	Type
TBC	121	338	3.6e-62	SMART
low complexity region	391	401	N/A	INTRINSIC
SH3	493	548	6.34e-19	SMART
RUN	664	726	1.29e-21	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000124845
AA Change: M46R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134559

Predicted Effect

probably benign
Transcript: ENSMUST00000137004

Predicted Effect

probably benign
Transcript: ENSMUST00000137255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138550

Predicted Effect

probably damaging
Transcript: ENSMUST00000139517
AA Change: M119R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122543
Gene: ENSMUSG00000042303
AA Change: M119R

Domain	Start	End	E-Value	Type
TBC	111	328	3.6e-62	SMART
low complexity region	381	391	N/A	INTRINSIC
SH3	483	538	6.34e-19	SMART
RUN	654	716	1.29e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143147

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149345

Predicted Effect

probably benign
Transcript: ENSMUST00000154904

SMART Domains

Protein: ENSMUSP00000118050
Gene: ENSMUSG00000042303

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
SH3	114	169	6.34e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156064

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156783

Predicted Effect

probably benign
Transcript: ENSMUST00000229727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230118

Predicted Effect

probably benign
Transcript: ENSMUST00000228971

Meta Mutation Damage Score

0.8780

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,529,389	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,139,594	A342T	probably benign	Het
Adrb1	A	T	19: 56,723,491	K374*	probably null	Het
Aldh18a1	C	A	19: 40,573,789	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,522,687		probably benign	Het
Alox15	T	A	11: 70,346,153	H393L	probably damaging	Het
Aox2	A	G	1: 58,339,446		probably benign	Het
Appbp2	T	C	11: 85,201,462	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,493,207	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,517,042	D737V	probably damaging	Het
C9	T	C	15: 6,467,458	I212T	probably benign	Het
Ccdc63	A	T	5: 122,117,044		probably benign	Het
Chst1	C	A	2: 92,613,606	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,476	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,946,491	H113Q	probably benign	Het
Dcn	A	T	10: 97,506,483		probably benign	Het
Dmbx1	C	T	4: 115,918,112	A324T	probably benign	Het
Dock10	G	T	1: 80,512,454	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,917,272	E443G	probably benign	Het
Espl1	T	C	15: 102,313,017	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,562,756	L174P	probably damaging	Het
Foxg1	A	G	12: 49,385,582	Y366C	probably damaging	Het
Fxyd3	T	C	7: 31,070,734		probably benign	Het
Gbp2	T	C	3: 142,630,106	V189A	probably benign	Het
Gins4	T	C	8: 23,229,410		probably benign	Het
Gm12789	A	G	4: 101,988,122	T3A	probably benign	Het
Gnb1l	T	C	16: 18,548,089		probably benign	Het
Gtpbp3	T	C	8: 71,491,497	L295S	probably damaging	Het
Hrh4	C	A	18: 13,022,398	Y331*	probably null	Het
Hsd11b1	A	T	1: 193,241,397	Y52N	probably damaging	Het
Jam3	A	G	9: 27,106,405	I29T	probably benign	Het
Kctd16	T	A	18: 40,530,877	I353N	probably benign	Het
Lama4	G	T	10: 39,028,639	G246C	probably damaging	Het
Lhx3	T	A	2: 26,203,028	M137L	probably benign	Het
Morc2a	T	C	11: 3,678,567	I340T	probably benign	Het
Myo7a	A	C	7: 98,054,624	I1969S	probably benign	Het
Olfr1471	T	A	19: 13,445,428	C139S	probably damaging	Het
Olfr304	T	C	7: 86,386,267	E131G	possibly damaging	Het
Olfr429	A	G	1: 174,089,166	N42S	probably damaging	Het
Pclo	T	C	5: 14,681,180	L3232P	unknown	Het
Polr1a	T	G	6: 71,974,139	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,728,997	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,495,240	T280A	probably benign	Het
Rfx3	T	C	19: 27,793,788	D521G	probably benign	Het
Scn5a	C	T	9: 119,543,135	V223I	probably damaging	Het
Slc6a7	T	A	18: 60,996,711	M608L	probably benign	Het
Slit2	A	G	5: 48,182,331		probably benign	Het
Steap2	T	A	5: 5,673,561	I440F	probably benign	Het
Syn2	T	G	6: 115,254,150		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tfb2m	G	A	1: 179,533,638	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,457,675		probably benign	Het
Trpm6	C	A	19: 18,823,378	P819T	probably benign	Het
Ttn	G	A	2: 76,743,689	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,482,618		probably null	Het
Vars	T	C	17: 35,011,596		probably benign	Het
Vip	A	T	10: 5,644,004	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps33b	T	C	7: 80,286,054	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,952,100	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,308,930	S237T	probably benign	Het
Zfp142	G	A	1: 74,576,064	A427V	probably benign	Het
Zfp692	T	A	11: 58,314,314	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,828,402	I384N	probably damaging	Het

Other mutations in Sgsm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01330:Sgsm3	APN	15	81010852	unclassified	probably benign
IGL03370:Sgsm3	APN	15	81011654	critical splice acceptor site	probably null
R0109:Sgsm3	UTSW	15	81009466	missense	probably damaging	0.99
R0382:Sgsm3	UTSW	15	81008314	nonsense	probably null
R0441:Sgsm3	UTSW	15	81009770	missense	possibly damaging	0.87
R0631:Sgsm3	UTSW	15	81011736	makesense	probably null
R0905:Sgsm3	UTSW	15	81011345	missense	probably damaging	1.00
R1364:Sgsm3	UTSW	15	81007942	missense	probably damaging	0.98
R1515:Sgsm3	UTSW	15	81010256	missense	probably benign	0.08
R2226:Sgsm3	UTSW	15	81003868	missense	probably damaging	0.96
R2227:Sgsm3	UTSW	15	81003868	missense	probably damaging	0.96
R2414:Sgsm3	UTSW	15	81006745	missense	probably benign	0.10
R2508:Sgsm3	UTSW	15	81003872	critical splice donor site	probably null
R4240:Sgsm3	UTSW	15	81011782	unclassified	probably benign
R4302:Sgsm3	UTSW	15	81010301	unclassified	probably benign
R4899:Sgsm3	UTSW	15	81006779	missense	probably benign	0.13
R5234:Sgsm3	UTSW	15	81007944	missense	probably damaging	1.00
R5288:Sgsm3	UTSW	15	81007999	missense	probably benign	0.00
R5385:Sgsm3	UTSW	15	81007999	missense	probably benign	0.00
R5386:Sgsm3	UTSW	15	81007999	missense	probably benign	0.00
R5682:Sgsm3	UTSW	15	81011460	critical splice acceptor site	probably null
R6052:Sgsm3	UTSW	15	81009263	missense	probably benign
R6349:Sgsm3	UTSW	15	81008346	missense	probably benign	0.00
R6453:Sgsm3	UTSW	15	81011314	missense	probably damaging	0.96
R6486:Sgsm3	UTSW	15	81011345	missense	probably damaging	1.00
R6591:Sgsm3	UTSW	15	81008862	missense	possibly damaging	0.94
R6642:Sgsm3	UTSW	15	81009700	missense	probably damaging	0.99
R6691:Sgsm3	UTSW	15	81008862	missense	possibly damaging	0.94
R6897:Sgsm3	UTSW	15	81008894	missense	probably benign	0.00
R7038:Sgsm3	UTSW	15	81008375	missense	possibly damaging	0.86
R7390:Sgsm3	UTSW	15	81008820	missense	possibly damaging	0.77
R7572:Sgsm3	UTSW	15	81007466	missense	possibly damaging	0.78
R7730:Sgsm3	UTSW	15	81008726	missense	probably damaging	1.00
R7851:Sgsm3	UTSW	15	81010753	missense	probably damaging	1.00
R8186:Sgsm3	UTSW	15	81009442	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AAAATGGGGTCCAGGAACCTGATTG -3'
(R):5'- CATGTTACCTGTTTGGCAGCGATG -3'

Sequencing Primer
(F):5'- AGGAAGGCTCTTCATACCTTCAG -3'
(R):5'- GGAGCTGTTCTTTATAATCTCACG -3'

Posted On

2013-05-09