Mutagenetix > Incidental Mutation

Incidental Mutation 'R7228:Rap1gds1'

562278

Institutional Source

Beutler Lab

Gene Symbol

Rap1gds1

Ensembl Gene

ENSMUSG00000028149

Gene Name

RAP1, GTP-GDP dissociation stimulator 1

Synonyms

GDS1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.741) question?

Stock #

R7228 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138925902-139075201 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 138957467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 373 (G373R)

Ref Sequence

ENSEMBL: ENSMUSP00000096173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029796] [ENSMUST00000098574] [ENSMUST00000196106] [ENSMUST00000196280] [ENSMUST00000200396]

AlphaFold

E9Q912

Predicted Effect

probably damaging
Transcript: ENSMUST00000029796
AA Change: G324R

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

SMART Domains

Protein: ENSMUSP00000029796
Gene: ENSMUSG00000028149
AA Change: G324R

Domain	Start	End	E-Value	Type
ARM	77	118	1.36e-6	SMART
ARM	119	162	7.98e-4	SMART
ARM	297	341	2.4e-7	SMART
ARM	342	382	6.3e1	SMART
ARM	430	470	6.39e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000098574
AA Change: G373R

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

SMART Domains

Protein: ENSMUSP00000096173
Gene: ENSMUSG00000028149
AA Change: G373R

Domain	Start	End	E-Value	Type
ARM	77	118	1.36e-6	SMART
ARM	169	211	1.74e-4	SMART
ARM	346	390	2.4e-7	SMART
ARM	391	431	6.3e1	SMART
ARM	479	519	6.39e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196106

Predicted Effect

probably damaging
Transcript: ENSMUST00000196280
AA Change: G373R

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

SMART Domains

Protein: ENSMUSP00000143181
Gene: ENSMUSG00000028149
AA Change: G373R

Domain	Start	End	E-Value	Type
ARM	77	118	1.36e-6	SMART
ARM	169	211	1.74e-4	SMART
ARM	346	390	2.4e-7	SMART
ARM	391	431	6.3e1	SMART
ARM	478	518	6.39e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000200396
AA Change: G324R

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

SMART Domains

Protein: ENSMUSP00000143517
Gene: ENSMUSG00000028149
AA Change: G324R

Domain	Start	End	E-Value	Type
ARM	77	118	6.7e-9	SMART
ARM	119	162	3.9e-6	SMART
ARM	297	341	1.2e-9	SMART
ARM	342	382	3.1e-1	SMART
ARM	430	470	3.1e-5	SMART

Meta Mutation Damage Score

0.1430

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	T	C	9: 51,291,656	D66G	probably damaging	Het
Abca13	T	A	11: 9,297,653	F2467I	probably benign	Het
Acod1	A	G	14: 103,049,329	T23A	probably benign	Het
Adam2	T	A	14: 66,053,912	K306*	probably null	Het
Adcy10	A	C	1: 165,510,272	I152L	probably damaging	Het
Amigo1	T	C	3: 108,187,230	L15P	probably benign	Het
Aqp2	A	G	15: 99,582,124	N156S	probably benign	Het
AU041133	A	G	10: 82,151,271	K253E	possibly damaging	Het
Cacna1s	A	G	1: 136,071,059	T231A	possibly damaging	Het
Carf	A	T	1: 60,109,394	N83I	probably damaging	Het
Ccdc121	T	C	1: 181,510,967	K140R	probably benign	Het
Cdc42bpb	C	T	12: 111,305,093	V1111M	possibly damaging	Het
Cep78	A	G	19: 15,969,197	S424P	probably benign	Het
Cfap74	G	A	4: 155,465,050	V123M	unknown	Het
Crot	T	A	5: 8,976,051	N312I	probably damaging	Het
Cyp2c69	C	A	19: 39,881,166	M136I	possibly damaging	Het
Cyp4f39	A	G	17: 32,491,829	D454G	probably damaging	Het
Dnaja4	A	T	9: 54,714,285	H298L	possibly damaging	Het
Eif2ak4	C	T	2: 118,457,157	T1081M	probably damaging	Het
Eif3j2	T	C	18: 43,477,509	K80E	probably damaging	Het
Elp4	T	A	2: 105,792,302	I351F	probably damaging	Het
Fbxw26	C	G	9: 109,724,944	G209A	possibly damaging	Het
Fsip2	T	A	2: 82,992,307	V6128D	possibly damaging	Het
Gli3	A	G	13: 15,724,502	T825A	probably benign	Het
Gm2042	A	G	12: 87,957,949	E60G	probably benign	Het
Gm26566	G	T	4: 88,722,305	R111L	unknown	Het
Gm3138	C	A	14: 4,252,444	H147Q	probably damaging	Het
Gm4858	T	A	3: 93,073,686	C4S	possibly damaging	Het
Gucy1b1	T	A	3: 82,033,274	N615I	unknown	Het
Ighv14-1	A	T	12: 113,932,361	F8I	not run	Het
Kcnh8	C	T	17: 52,956,716	T747I	probably benign	Het
Kctd1	T	A	18: 15,062,412	S385C	possibly damaging	Het
Lmo7	T	A	14: 101,896,535	M672K	probably damaging	Het
Lrrc69	T	A	4: 14,775,027	K80N	probably damaging	Het
Map2k5	C	T	9: 63,358,022	D75N	probably damaging	Het
Matr3	T	C	18: 35,562,484	V4A	unknown	Het
Megf10	T	C	18: 57,189,589	C69R	probably damaging	Het
Mettl1	A	G	10: 127,045,283	E221G	probably benign	Het
Mkrn3	C	A	7: 62,419,667	R125S	probably benign	Het
Mlh3	A	T	12: 85,235,656	L1401Q	probably benign	Het
Nacad	T	C	11: 6,598,412	I1412V	probably benign	Het
Nkain4	A	T	2: 180,954,569		probably null	Het
Notch2	T	A	3: 98,137,317	C1518*	probably null	Het
Npw	A	G	17: 24,658,091	V112A	probably benign	Het
Olfr56	T	A	11: 49,134,879	M229K	possibly damaging	Het
Olfr713	A	T	7: 107,037,100	H315L	probably benign	Het
Pdzd2	T	C	15: 12,372,973	T2359A	probably benign	Het
Pdzd2	T	A	15: 12,458,145	K37*	probably null	Het
Phkb	T	G	8: 85,843,007		probably benign	Het
Prrc2b	C	A	2: 32,214,306	Y1265*	probably null	Het
Rab31	T	A	17: 65,717,553	M44L	probably benign	Het
Rapgef2	T	C	3: 79,069,218	D1279G	probably benign	Het
Rbm46	T	C	3: 82,842,533	D468G	probably benign	Het
Ryr3	T	C	2: 112,861,852	E1059G	probably damaging	Het
Sez6l2	T	C	7: 126,953,725	L221P	probably damaging	Het
Slit3	T	A	11: 35,599,418	V361E	probably damaging	Het
Soat1	G	A	1: 156,434,238	S400F	probably damaging	Het
Spp1	T	C	5: 104,440,445	S238P	probably damaging	Het
Tfap2c	T	C	2: 172,551,572	S136P	probably benign	Het
Tgfbr2	T	C	9: 116,109,943	E297G	probably damaging	Het
Trim2	T	C	3: 84,192,181	D228G	probably benign	Het
Wdr82	C	A	9: 106,176,672	A74E	probably benign	Het
Zfp451	T	C	1: 33,803,394	T136A	unknown	Het

Other mutations in Rap1gds1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Rap1gds1	APN	3	138983827	missense	possibly damaging	0.95
IGL01314:Rap1gds1	APN	3	139050561	missense	probably damaging	1.00
IGL01450:Rap1gds1	APN	3	138965920	missense	probably damaging	1.00
IGL02033:Rap1gds1	APN	3	138955471	splice site	probably benign
IGL02658:Rap1gds1	APN	3	138957479	missense	probably damaging	1.00
IGL02745:Rap1gds1	APN	3	138956241	missense	probably damaging	1.00
IGL02880:Rap1gds1	APN	3	138945756	missense	probably benign	0.16
PIT4305001:Rap1gds1	UTSW	3	138956300	missense	probably benign	0.05
R0006:Rap1gds1	UTSW	3	138983871	splice site	probably null
R0006:Rap1gds1	UTSW	3	138983871	splice site	probably null
R0585:Rap1gds1	UTSW	3	139021872	missense	probably benign	0.16
R1573:Rap1gds1	UTSW	3	138965863	splice site	probably null
R1793:Rap1gds1	UTSW	3	139050553	missense	possibly damaging	0.94
R1960:Rap1gds1	UTSW	3	139050556	missense	probably null	0.28
R2432:Rap1gds1	UTSW	3	138956250	missense	probably damaging	0.99
R2697:Rap1gds1	UTSW	3	138983721	critical splice donor site	probably null
R3792:Rap1gds1	UTSW	3	138965960	missense	probably damaging	1.00
R4031:Rap1gds1	UTSW	3	139050592	splice site	probably benign
R4194:Rap1gds1	UTSW	3	138959090	missense	probably damaging	1.00
R4530:Rap1gds1	UTSW	3	138957425	missense	probably damaging	1.00
R4696:Rap1gds1	UTSW	3	138927614	missense	probably damaging	1.00
R4909:Rap1gds1	UTSW	3	138983748	missense	possibly damaging	0.77
R5000:Rap1gds1	UTSW	3	138956250	missense	probably damaging	1.00
R5046:Rap1gds1	UTSW	3	138955420	nonsense	probably null
R5152:Rap1gds1	UTSW	3	138956201	missense	probably damaging	1.00
R5163:Rap1gds1	UTSW	3	138959056	missense	probably damaging	0.99
R5309:Rap1gds1	UTSW	3	138958628	missense	probably damaging	1.00
R5312:Rap1gds1	UTSW	3	138958628	missense	probably damaging	1.00
R5782:Rap1gds1	UTSW	3	138959079	missense	possibly damaging	0.65
R5825:Rap1gds1	UTSW	3	138955375	missense	possibly damaging	0.93
R6547:Rap1gds1	UTSW	3	138955338	missense	probably damaging	1.00
R7227:Rap1gds1	UTSW	3	138957467	missense	probably damaging	1.00
R7574:Rap1gds1	UTSW	3	138956215	nonsense	probably null
R7711:Rap1gds1	UTSW	3	138959113	missense	probably benign	0.08
R8035:Rap1gds1	UTSW	3	139015550	missense	probably damaging	1.00
R8432:Rap1gds1	UTSW	3	138941787	missense	probably damaging	0.99
R8736:Rap1gds1	UTSW	3	138941751	missense	probably benign	0.00
R8768:Rap1gds1	UTSW	3	138941760	missense	probably benign	0.00
R8901:Rap1gds1	UTSW	3	138957544	missense	probably damaging	1.00
R9008:Rap1gds1	UTSW	3	138955416	missense	probably benign	0.05
R9526:Rap1gds1	UTSW	3	139050556	missense	probably benign	0.00
RF053:Rap1gds1	UTSW	3	138941657	frame shift	probably null
Z1177:Rap1gds1	UTSW	3	139050539	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGCCCCACTTTGAGACAG -3'
(R):5'- GGCAGAATATTAGACTTCTGATCTG -3'

Sequencing Primer
(F):5'- TGAGACAGCATTCTGGAACTC -3'
(R):5'- AGACTTCTGATCTGGATAGGTGGAG -3'

Posted On

2019-06-26