Mutagenetix > Incidental Mutations

Incidental Mutation 'R4031:Rap1gds1'

313481

Institutional Source

Beutler Lab

Gene Symbol

Rap1gds1

Ensembl Gene

ENSMUSG00000028149

Gene Name

RAP1, GTP-GDP dissociation stimulator 1

Synonyms

GDS1

MMRRC Submission

040960-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.605) question?

Stock #

R4031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138925902-139075201 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 139050592 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143517 (fasta)

Gene Model

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

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 benign
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

noncoding transcript
Transcript: ENSMUST00000195953

Predicted Effect

probably benign
Transcript: ENSMUST00000196106

Predicted Effect

probably benign
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: ENSMUST00000198538

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199152

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

95% (52/55)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	G	T	8: 86,517,448	F1025L	probably damaging	Het
Acss2	C	T	2: 155,557,210	T477I	probably damaging	Het
Aplp2	G	A	9: 31,157,730	P601L	probably benign	Het
Arl2bp	T	C	8: 94,667,653	I32T	probably damaging	Het
Avpi1	C	A	19: 42,124,741		probably benign	Het
C030005K15Rik	T	C	10: 97,725,542	Y109C	unknown	Het
Ccdc150	T	A	1: 54,278,811	M303K	probably benign	Het
Chrna5	T	C	9: 54,998,086	W61R	probably damaging	Het
Copa	T	C	1: 172,108,375	V428A	probably damaging	Het
Crybb3	A	G	5: 113,079,869	Y29H	probably damaging	Het
Dcun1d4	A	G	5: 73,534,637	D89G	probably damaging	Het
Disp2	T	C	2: 118,791,880	I1031T	probably benign	Het
Elf1	A	C	14: 79,569,283	K161Q	probably damaging	Het
Fndc1	A	T	17: 7,769,752	Y1159*	probably null	Het
Hspa12a	T	C	19: 58,800,857	N449S	probably benign	Het
Hyal4	A	G	6: 24,756,224	E147G	probably damaging	Het
Hydin	T	C	8: 110,610,047	I5152T	probably benign	Het
Ighv9-1	C	T	12: 114,094,224	A19T	probably benign	Het
Kcnt1	T	G	2: 25,916,048	S1216R	possibly damaging	Het
Kdm5d	T	A	Y: 916,910	V435E	probably damaging	Het
Klhl30	G	A	1: 91,361,157	R546H	probably benign	Het
Lrp1b	C	T	2: 40,702,848	G3753D	probably benign	Het
Ltbp3	G	A	19: 5,754,022	R854Q	probably benign	Het
Macf1	A	G	4: 123,381,312	L6303P	probably damaging	Het
Mblac2	T	C	13: 81,750,089	S195P	possibly damaging	Het
Mindy3	A	C	2: 12,401,083		probably null	Het
Neurod1	C	T	2: 79,454,026	D338N	probably benign	Het
Polr1e	A	T	4: 45,018,685	E5V	probably benign	Het
Polr2b	G	A	5: 77,348,405	R1141H	possibly damaging	Het
Ppp2r2a	T	C	14: 67,028,976	S79G	probably damaging	Het
Psmd2	G	A	16: 20,663,205	G896D	probably damaging	Het
Rsph10b	A	G	5: 143,985,668		probably null	Het
Slc26a10	A	G	10: 127,178,002	V297A	possibly damaging	Het
Slc26a5	T	C	5: 21,847,191	K47E	probably damaging	Het
Slurp1	T	C	15: 74,727,487	E58G	probably damaging	Het
Spo11	T	A	2: 172,986,832		probably benign	Het
Tm9sf4	T	C	2: 153,198,344		probably benign	Het
Trak1	T	C	9: 121,451,670	I272T	probably damaging	Het
Tshz1	T	C	18: 84,014,829	K485E	possibly damaging	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Unc79	T	A	12: 103,072,759	S671T	possibly damaging	Het
Usp43	G	T	11: 67,913,833	A186D	probably damaging	Het
Vmn2r107	G	A	17: 20,375,221	V679I	probably benign	Het
Vsig10l	C	T	7: 43,465,374	A333V	probably damaging	Het
Vwa3a	G	A	7: 120,768,232		probably null	Het
Wdr49	C	A	3: 75,323,665	L563F	probably benign	Het
Wnk1	T	C	6: 119,951,068	T1141A	probably damaging	Het
Zfp236	T	A	18: 82,624,465	E1052V	probably damaging	Het
Zfp317	A	T	9: 19,646,712	H163L	possibly damaging	Het
Zfp975	G	A	7: 42,662,953	Q79*	probably null	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
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
RF053:Rap1gds1	UTSW	3	138941657	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCTAAACAATGCGGACTTGATCC -3'
(R):5'- AGTCACGGATAATCTGTACTGTTTG -3'

Sequencing Primer
(F):5'- GACTTGATCCATTCTTGGTTTGG -3'
(R):5'- AGGCTAATTCTGCCCAGT -3'

Posted On

2015-04-30