Mutagenetix > Incidental Mutation

Incidental Mutation 'R0006:Rap1gds1'

43626

Institutional Source

Beutler Lab

Gene Symbol

Rap1gds1

Ensembl Gene

ENSMUSG00000028149

Gene Name

RAP1, GTP-GDP dissociation stimulator 1

Synonyms

GDS1

MMRRC Submission

041980-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.741) question?

Stock #

R0006 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138925902-139075201 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 138983871 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143181 (fasta)

Gene Model

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

AlphaFold

E9Q912

Predicted Effect

probably benign
Transcript: ENSMUST00000029796

SMART Domains

Protein: ENSMUSP00000029796
Gene: ENSMUSG00000028149

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 null
Transcript: ENSMUST00000098574

SMART Domains

Protein: ENSMUSP00000096173
Gene: ENSMUSG00000028149

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 null
Transcript: ENSMUST00000196280

SMART Domains

Protein: ENSMUSP00000143181
Gene: ENSMUSG00000028149

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

noncoding transcript
Transcript: ENSMUST00000200262

Predicted Effect

probably benign
Transcript: ENSMUST00000200396

SMART Domains

Protein: ENSMUSP00000143517
Gene: ENSMUSG00000028149

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.3%

Validation Efficiency

97% (67/69)

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
Aebp1	A	G	11: 5,863,935		probably benign	Het
Aldh3a1	G	A	11: 61,217,101	V324M	probably damaging	Het
Als2cl	T	A	9: 110,894,618	L694Q	possibly damaging	Het
Appl2	A	G	10: 83,602,898	F556L	probably damaging	Het
Atad2b	T	A	12: 4,942,030	S210T	possibly damaging	Het
Aurka	A	G	2: 172,359,753		probably null	Het
Boc	C	T	16: 44,496,449	V444I	probably benign	Het
Ccdc109b	A	C	3: 129,933,765		probably benign	Het
Cfap61	G	A	2: 146,077,312	V655I	probably benign	Het
Chd8	A	G	14: 52,235,293	I351T	possibly damaging	Het
Chid1	T	A	7: 141,496,426		probably benign	Het
Cyp3a41a	T	A	5: 145,704,796	H288L	probably benign	Het
Dnase2b	T	A	3: 146,582,489	I284F	probably damaging	Het
Dock2	A	G	11: 34,312,453		probably benign	Het
Dst	C	T	1: 34,228,918	T5325I	probably benign	Het
Erbb3	A	G	10: 128,573,410		probably null	Het
Fam129c	A	G	8: 71,605,044		probably benign	Het
Fancl	A	G	11: 26,469,695	N316S	possibly damaging	Het
Farsa	G	T	8: 84,861,305		probably benign	Het
Fibcd1	T	G	2: 31,838,587	D86A	probably damaging	Het
Gab1	A	T	8: 80,769,730	M617K	possibly damaging	Het
Gabrd	C	A	4: 155,388,601	V72L	probably damaging	Het
Ggh	C	A	4: 20,054,155	T150K	possibly damaging	Het
Gm340	A	G	19: 41,584,899	T698A	probably benign	Het
Gnb3	G	A	6: 124,835,804		probably benign	Het
Hephl1	T	A	9: 15,076,764	T683S	probably benign	Het
Hmcn1	G	A	1: 150,808,676	P381L	probably damaging	Het
Hspa8	T	G	9: 40,804,629	N544K	probably benign	Het
Hspg2	C	T	4: 137,519,931	T1155I	probably damaging	Het
Igdcc4	C	T	9: 65,135,100		probably benign	Het
Jazf1	A	G	6: 52,894,086		probably benign	Het
Kntc1	T	A	5: 123,789,138	S1219T	probably benign	Het
L3mbtl1	A	T	2: 162,964,569	Y460F	possibly damaging	Het
Lyrm7	T	A	11: 54,848,597	T76S	probably benign	Het
Map1b	C	T	13: 99,435,302	V304M	probably damaging	Het
Muc13	T	C	16: 33,803,148	S271P	probably damaging	Het
Myo16	A	G	8: 10,475,988	K843E	probably damaging	Het
Nav2	A	G	7: 49,453,230	E531G	possibly damaging	Het
Nup188	T	C	2: 30,322,023	V553A	probably benign	Het
Olfr1	A	G	11: 73,395,488	F178S	probably damaging	Het
Olfr1348	A	G	7: 6,501,611	I205T	possibly damaging	Het
Olfr376	A	G	11: 73,375,588	M283V	possibly damaging	Het
Olfr646	A	G	7: 104,106,320	I14V	probably benign	Het
Olfr877	T	A	9: 37,855,220	V134D	possibly damaging	Het
P4ha3	C	T	7: 100,318,948	R378*	probably null	Het
Rbfox1	T	A	16: 7,330,420	S244R	probably benign	Het
Rpp40	G	A	13: 35,896,735	P339S	probably damaging	Het
Rsph4a	T	C	10: 33,909,148	C148R	probably damaging	Het
Skint5	T	C	4: 113,893,862		probably benign	Het
Sptbn1	A	G	11: 30,123,855	S1405P	probably damaging	Het
Tex35	T	C	1: 157,099,744	K154E	possibly damaging	Het
Thada	T	C	17: 84,226,040	N1661S	probably benign	Het
Tle4	A	G	19: 14,466,714		probably benign	Het
Tnxb	T	C	17: 34,682,292	S1027P	probably benign	Het
Tpm3	T	A	3: 90,087,661		probably benign	Het
Ubr4	T	C	4: 139,431,649	F2438L	probably benign	Het
Uggt2	A	T	14: 119,049,663	F640L	probably benign	Het
Vmn1r20	T	G	6: 57,432,305	H205Q	probably damaging	Het
Wbp2	T	C	11: 116,079,788		probably null	Het
Xirp1	T	C	9: 120,017,454	I788V	probably benign	Het
Zc3hav1	A	G	6: 38,319,702		probably null	Het
Zfp687	A	G	3: 95,011,456	I335T	probably damaging	Het
Zfpm1	A	G	8: 122,334,488	Y264C	probably damaging	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
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
R7228: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'- TGGGCAACCCTTAAAGCTGAGC -3'
(R):5'- CTCCAGTTTGCACAGCGAGGAT -3'

Sequencing Primer
(F):5'- GTGTAATTTCCCAACACCGTAAAG -3'
(R):5'- CTAAAAAGCAGTTGTCTCCTTACC -3'

Posted On

2013-05-29