Mutagenetix > Incidental Mutation

Incidental Mutation 'R5682:Sgsm3'

443155

Institutional Source

Beutler Lab

Gene Symbol

Sgsm3

Ensembl Gene

ENSMUSG00000042303

Gene Name

small G protein signaling modulator 3

Synonyms

1810012I01Rik, Rutbc3, CIP85

MMRRC Submission

043318-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R5682 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80861966-80896491 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 80895661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109579] [ENSMUST00000131235] [ENSMUST00000134469] [ENSMUST00000139517] [ENSMUST00000149582] [ENSMUST00000143147] [ENSMUST00000135047] [ENSMUST00000228971] [ENSMUST00000137255] [ENSMUST00000229727]

AlphaFold

Q8VCZ6

PDB Structure

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

Predicted Effect

probably null
Transcript: ENSMUST00000042506

SMART Domains

Protein: ENSMUSP00000043311
Gene: ENSMUSG00000103565

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

probably benign
Transcript: ENSMUST00000109579

SMART Domains

Protein: ENSMUSP00000105207
Gene: ENSMUSG00000042292

Domain	Start	End	E-Value	Type
RPEL	15	40	2.17e-7	SMART
RPEL	59	84	1.36e-8	SMART
RPEL	103	128	1.03e-8	SMART
low complexity region	146	159	N/A	INTRINSIC
low complexity region	209	228	N/A	INTRINSIC
low complexity region	259	272	N/A	INTRINSIC
low complexity region	298	320	N/A	INTRINSIC
low complexity region	340	365	N/A	INTRINSIC
SAP	385	419	4.98e-10	SMART
low complexity region	424	433	N/A	INTRINSIC
low complexity region	483	496	N/A	INTRINSIC
coiled coil region	558	600	N/A	INTRINSIC
low complexity region	670	679	N/A	INTRINSIC
low complexity region	714	735	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000124845

Predicted Effect

probably benign
Transcript: ENSMUST00000131235

SMART Domains

Protein: ENSMUSP00000120116
Gene: ENSMUSG00000042292

Domain	Start	End	E-Value	Type
RPEL	24	49	1.36e-8	SMART
RPEL	68	93	1.03e-8	SMART
low complexity region	111	124	N/A	INTRINSIC
low complexity region	174	187	N/A	INTRINSIC
low complexity region	213	235	N/A	INTRINSIC
low complexity region	255	280	N/A	INTRINSIC
SAP	300	334	4.98e-10	SMART
low complexity region	339	348	N/A	INTRINSIC
low complexity region	398	411	N/A	INTRINSIC
coiled coil region	473	515	N/A	INTRINSIC
low complexity region	585	594	N/A	INTRINSIC
low complexity region	629	650	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132039

Predicted Effect

probably benign
Transcript: ENSMUST00000134469

SMART Domains

Protein: ENSMUSP00000119530
Gene: ENSMUSG00000042292

Domain	Start	End	E-Value	Type
RPEL	24	49	1.36e-8	SMART
RPEL	68	93	1.03e-8	SMART
low complexity region	111	124	N/A	INTRINSIC
low complexity region	174	193	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
low complexity region	263	285	N/A	INTRINSIC
low complexity region	305	330	N/A	INTRINSIC
SAP	350	384	4.98e-10	SMART
low complexity region	389	398	N/A	INTRINSIC
low complexity region	448	461	N/A	INTRINSIC
coiled coil region	523	565	N/A	INTRINSIC
low complexity region	635	644	N/A	INTRINSIC
low complexity region	679	700	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156783

Predicted Effect

probably null
Transcript: ENSMUST00000139517

SMART Domains

Protein: ENSMUSP00000122543
Gene: ENSMUSG00000042303

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

noncoding transcript
Transcript: ENSMUST00000149345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134559

Predicted Effect

probably benign
Transcript: ENSMUST00000149582

SMART Domains

Protein: ENSMUSP00000117745
Gene: ENSMUSG00000042292

Domain	Start	End	E-Value	Type
RPEL	24	49	1.36e-8	SMART
RPEL	68	93	1.03e-8	SMART
low complexity region	111	124	N/A	INTRINSIC
low complexity region	174	193	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
low complexity region	263	285	N/A	INTRINSIC
low complexity region	305	330	N/A	INTRINSIC
SAP	350	384	4.98e-10	SMART
low complexity region	389	398	N/A	INTRINSIC
low complexity region	448	461	N/A	INTRINSIC
coiled coil region	523	565	N/A	INTRINSIC
low complexity region	635	644	N/A	INTRINSIC
low complexity region	679	700	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143147

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

probably benign
Transcript: ENSMUST00000135047

SMART Domains

Protein: ENSMUSP00000118451
Gene: ENSMUSG00000042292

Domain	Start	End	E-Value	Type
RPEL	24	49	1.36e-8	SMART
RPEL	68	93	1.03e-8	SMART
low complexity region	111	124	N/A	INTRINSIC
low complexity region	174	193	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
low complexity region	263	285	N/A	INTRINSIC
low complexity region	305	330	N/A	INTRINSIC
SAP	350	384	4.98e-10	SMART
low complexity region	389	398	N/A	INTRINSIC
low complexity region	448	461	N/A	INTRINSIC
coiled coil region	523	565	N/A	INTRINSIC
low complexity region	635	644	N/A	INTRINSIC
low complexity region	679	700	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000228971

Predicted Effect

probably benign
Transcript: ENSMUST00000137255

Predicted Effect

probably benign
Transcript: ENSMUST00000229727

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,283,723 (GRCm39)	S7T	probably benign	Het
Acot4	G	A	12: 84,085,576 (GRCm39)	V98M	probably damaging	Het
Acsm2	A	T	7: 119,162,774 (GRCm39)	N41I	probably benign	Het
Adamtsl3	A	T	7: 82,255,758 (GRCm39)	N1590I	probably damaging	Het
Ank3	G	A	10: 69,729,347 (GRCm39)	G714R	probably damaging	Het
Armh4	T	C	14: 49,989,043 (GRCm39)	D642G	probably damaging	Het
Ash1l	G	A	3: 88,914,914 (GRCm39)	R1848Q	probably damaging	Het
Atp1a4	A	T	1: 172,081,730 (GRCm39)	Y141N	probably damaging	Het
Atxn3	A	T	12: 101,924,406 (GRCm39)	I1N	probably damaging	Het
Avil	A	C	10: 126,849,973 (GRCm39)	Q608P	probably damaging	Het
Axin1	T	C	17: 26,406,775 (GRCm39)	V456A	probably benign	Het
Cacna1g	A	G	11: 94,349,940 (GRCm39)	L635P	probably damaging	Het
Card11	G	A	5: 140,888,666 (GRCm39)	Q231*	probably null	Het
Ccdc162	G	A	10: 41,432,799 (GRCm39)	R500*	probably null	Het
Cdh24	T	C	14: 54,874,805 (GRCm39)	D400G	probably damaging	Het
Cep112	T	C	11: 108,361,138 (GRCm39)	L164P	probably damaging	Het
Corin	A	G	5: 72,579,497 (GRCm39)	S224P	possibly damaging	Het
Csgalnact2	T	C	6: 118,097,953 (GRCm39)	Y371C	probably damaging	Het
Cspg4	A	T	9: 56,793,480 (GRCm39)	E405V	probably benign	Het
Ctnna3	T	A	10: 64,709,085 (GRCm39)	M708K	probably damaging	Het
Cyp7a1	T	A	4: 6,268,429 (GRCm39)	Y432F	probably benign	Het
Dcaf11	T	A	14: 55,800,883 (GRCm39)	V113E	probably damaging	Het
Dhx29	T	C	13: 113,067,383 (GRCm39)	I88T	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Elmo2	A	G	2: 165,139,330 (GRCm39)	F406L	probably damaging	Het
Eps15l1	G	A	8: 73,125,592 (GRCm39)	Q648*	probably null	Het
Fam171a1	G	A	2: 3,227,126 (GRCm39)	R753Q	probably damaging	Het
Figla	T	A	6: 85,995,604 (GRCm39)	V86E	probably damaging	Het
Galnt7	C	A	8: 58,036,967 (GRCm39)	E141*	probably null	Het
Garnl3	A	G	2: 32,944,185 (GRCm39)	Y125H	probably damaging	Het
Gnb5	A	G	9: 75,234,523 (GRCm39)	D74G	probably damaging	Het
Grk1	A	T	8: 13,464,351 (GRCm39)	I408F	possibly damaging	Het
Has1	A	T	17: 18,064,425 (GRCm39)	W405R	possibly damaging	Het
Hdac5	A	G	11: 102,104,749 (GRCm39)		probably benign	Het
Helq	T	A	5: 100,933,170 (GRCm39)	M555L	probably benign	Het
Hipk2	T	C	6: 38,714,408 (GRCm39)	N556S	possibly damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Ing3	T	C	6: 21,968,949 (GRCm39)	S144P	probably damaging	Het
Itgb1	G	A	8: 129,453,549 (GRCm39)		probably null	Het
Kcnh4	A	T	11: 100,640,628 (GRCm39)	M466K	possibly damaging	Het
Krit1	T	A	5: 3,880,737 (GRCm39)	N565K	probably damaging	Het
Limk1	A	C	5: 134,694,059 (GRCm39)		probably null	Het
Lrif1	T	C	3: 106,639,884 (GRCm39)	I323T	possibly damaging	Het
Macf1	T	C	4: 123,328,552 (GRCm39)	E1811G	probably damaging	Het
Mctp2	A	C	7: 71,895,207 (GRCm39)		probably null	Het
Mmp21	A	G	7: 133,276,358 (GRCm39)	I495T	probably benign	Het
Mpz	A	T	1: 170,986,463 (GRCm39)	T126S	possibly damaging	Het
Napsa	A	G	7: 44,234,768 (GRCm39)	Y301C	possibly damaging	Het
Ncbp1	T	A	4: 46,170,474 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,510,155 (GRCm39)	E47G	probably benign	Het
Or8b56	A	G	9: 38,739,424 (GRCm39)	I146V	probably benign	Het
Pcdha11	A	G	18: 37,144,502 (GRCm39)	K198E	probably damaging	Het
Pcdha3	A	G	18: 37,081,040 (GRCm39)	D594G	probably damaging	Het
Pdcd5	G	A	7: 35,346,613 (GRCm39)		probably benign	Het
Pdhx	A	T	2: 102,865,685 (GRCm39)	S166T	probably benign	Het
Pigc	A	G	1: 161,798,516 (GRCm39)	Y166C	probably damaging	Het
Prkch	C	T	12: 73,744,724 (GRCm39)	H246Y	probably damaging	Het
Ptk2	A	T	15: 73,134,413 (GRCm39)	L562*	probably null	Het
Rab3ip	C	T	10: 116,743,008 (GRCm39)	W439*	probably null	Het
Rasef	T	A	4: 73,659,208 (GRCm39)	R435*	probably null	Het
Rnf103	C	T	6: 71,485,708 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,991,765 (GRCm39)	F388L	probably benign	Het
Sds	A	C	5: 120,621,784 (GRCm39)	S309R	possibly damaging	Het
Sgip1	T	A	4: 102,824,847 (GRCm39)	D736E	possibly damaging	Het
Sgms2	A	G	3: 131,118,611 (GRCm39)	Y291H	probably damaging	Het
Siglec1	T	A	2: 130,925,930 (GRCm39)	I259F	probably damaging	Het
Sik2	G	A	9: 50,828,382 (GRCm39)	P220L	probably damaging	Het
Slc29a3	A	G	10: 60,551,991 (GRCm39)	V351A	probably benign	Het
Slc36a3	A	G	11: 55,016,489 (GRCm39)	S369P	probably benign	Het
Srgap1	A	T	10: 121,640,919 (GRCm39)	M649K	probably damaging	Het
Thnsl1	A	G	2: 21,216,879 (GRCm39)	E211G	possibly damaging	Het
Tmprss9	A	G	10: 80,733,207 (GRCm39)		probably null	Het
Tpgs1	G	A	10: 79,511,421 (GRCm39)	V188M	probably damaging	Het
Vmn1r201	G	T	13: 22,659,355 (GRCm39)	V190F	probably damaging	Het
Vmn1r64	A	T	7: 5,886,622 (GRCm39)	L307Q	possibly damaging	Het
Wbp11	T	C	6: 136,791,252 (GRCm39)		probably benign	Het
Wdr35	A	G	12: 9,031,125 (GRCm39)	Y134C	probably damaging	Het
Zan	G	T	5: 137,412,521 (GRCm39)	C3263*	probably null	Het
Zc3h12c	G	T	9: 52,037,876 (GRCm39)	D301E	probably damaging	Het
Zfp365	A	C	10: 67,745,637 (GRCm39)	L47R	probably damaging	Het
Zmym6	C	T	4: 126,998,200 (GRCm39)	P412L	probably damaging	Het

Other mutations in Sgsm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01330:Sgsm3	APN	15	80,895,053 (GRCm39)	unclassified	probably benign
IGL03370:Sgsm3	APN	15	80,895,855 (GRCm39)	critical splice acceptor site	probably null
R0109:Sgsm3	UTSW	15	80,893,667 (GRCm39)	missense	probably damaging	0.99
R0267:Sgsm3	UTSW	15	80,890,803 (GRCm39)	missense	probably damaging	0.96
R0382:Sgsm3	UTSW	15	80,892,515 (GRCm39)	nonsense	probably null
R0441:Sgsm3	UTSW	15	80,893,971 (GRCm39)	missense	possibly damaging	0.87
R0631:Sgsm3	UTSW	15	80,895,937 (GRCm39)	makesense	probably null
R0905:Sgsm3	UTSW	15	80,895,546 (GRCm39)	missense	probably damaging	1.00
R1364:Sgsm3	UTSW	15	80,892,143 (GRCm39)	missense	probably damaging	0.98
R1515:Sgsm3	UTSW	15	80,894,457 (GRCm39)	missense	probably benign	0.08
R2226:Sgsm3	UTSW	15	80,888,069 (GRCm39)	missense	probably damaging	0.96
R2227:Sgsm3	UTSW	15	80,888,069 (GRCm39)	missense	probably damaging	0.96
R2414:Sgsm3	UTSW	15	80,890,946 (GRCm39)	missense	probably benign	0.10
R2508:Sgsm3	UTSW	15	80,888,073 (GRCm39)	critical splice donor site	probably null
R4240:Sgsm3	UTSW	15	80,895,983 (GRCm39)	unclassified	probably benign
R4302:Sgsm3	UTSW	15	80,894,502 (GRCm39)	unclassified	probably benign
R4899:Sgsm3	UTSW	15	80,890,980 (GRCm39)	missense	probably benign	0.13
R5234:Sgsm3	UTSW	15	80,892,145 (GRCm39)	missense	probably damaging	1.00
R5288:Sgsm3	UTSW	15	80,892,200 (GRCm39)	missense	probably benign	0.00
R5385:Sgsm3	UTSW	15	80,892,200 (GRCm39)	missense	probably benign	0.00
R5386:Sgsm3	UTSW	15	80,892,200 (GRCm39)	missense	probably benign	0.00
R6052:Sgsm3	UTSW	15	80,893,464 (GRCm39)	missense	probably benign
R6349:Sgsm3	UTSW	15	80,892,547 (GRCm39)	missense	probably benign	0.00
R6453:Sgsm3	UTSW	15	80,895,515 (GRCm39)	missense	probably damaging	0.96
R6486:Sgsm3	UTSW	15	80,895,546 (GRCm39)	missense	probably damaging	1.00
R6591:Sgsm3	UTSW	15	80,893,063 (GRCm39)	missense	possibly damaging	0.94
R6642:Sgsm3	UTSW	15	80,893,901 (GRCm39)	missense	probably damaging	0.99
R6691:Sgsm3	UTSW	15	80,893,063 (GRCm39)	missense	possibly damaging	0.94
R6897:Sgsm3	UTSW	15	80,893,095 (GRCm39)	missense	probably benign	0.00
R7038:Sgsm3	UTSW	15	80,892,576 (GRCm39)	missense	possibly damaging	0.86
R7390:Sgsm3	UTSW	15	80,893,021 (GRCm39)	missense	possibly damaging	0.77
R7572:Sgsm3	UTSW	15	80,891,667 (GRCm39)	missense	possibly damaging	0.78
R7730:Sgsm3	UTSW	15	80,892,927 (GRCm39)	missense	probably damaging	1.00
R7851:Sgsm3	UTSW	15	80,894,954 (GRCm39)	missense	probably damaging	1.00
R8186:Sgsm3	UTSW	15	80,893,643 (GRCm39)	missense	possibly damaging	0.90
R8902:Sgsm3	UTSW	15	80,890,796 (GRCm39)	missense	probably damaging	1.00
R8949:Sgsm3	UTSW	15	80,894,612 (GRCm39)	missense	probably damaging	1.00
R9025:Sgsm3	UTSW	15	80,892,182 (GRCm39)	missense	probably damaging	1.00
R9664:Sgsm3	UTSW	15	80,890,935 (GRCm39)	missense	probably benign	0.00
R9774:Sgsm3	UTSW	15	80,890,673 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCTCAGTGAACAGGTCCTACAC -3'
(R):5'- TTCCTCCTGTGCACAGAACAG -3'

Sequencing Primer
(F):5'- CTACACCTGTGGCTGGAGGTTC -3'
(R):5'- TGTGCACAGAACAGCCCCAG -3'

Posted On

2016-11-09