Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01314:Rap1gds1'

73773

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rap1gds1

Ensembl Gene

ENSMUSG00000028149

Gene Name

RAP1, GTP-GDP dissociation stimulator 1

Synonyms

GDS1

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.604) question?

Stock #

IGL01314

Quality Score

Status

Chromosome

Chromosomal Location

138925902-139075201 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139050561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 11 (L11P)

Ref Sequence

ENSEMBL: ENSMUSP00000143517 (fasta)

Gene Model

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

AlphaFold

E9Q912

Predicted Effect

probably damaging
Transcript: ENSMUST00000029796
AA Change: L11P

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

SMART Domains

Protein: ENSMUSP00000029796
Gene: ENSMUSG00000028149
AA Change: L11P

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: L11P

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

SMART Domains

Protein: ENSMUSP00000096173
Gene: ENSMUSG00000028149
AA Change: L11P

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 damaging
Transcript: ENSMUST00000196106
AA Change: L11P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000196280
AA Change: L11P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143181
Gene: ENSMUSG00000028149
AA Change: L11P

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 damaging
Transcript: ENSMUST00000200396
AA Change: L11P

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

SMART Domains

Protein: ENSMUSP00000143517
Gene: ENSMUSG00000028149
AA Change: L11P

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	A	C	10: 100,573,611	D313E	probably damaging	Het
Adamts12	C	T	15: 11,071,853	A161V	probably benign	Het
Bptf	A	T	11: 107,054,853	V2520E	probably damaging	Het
C87436	T	C	6: 86,457,855	F395S	probably damaging	Het
Capn1	T	C	19: 5,989,984		probably benign	Het
Ceacam5	T	A	7: 17,747,256	Y309*	probably null	Het
Clasp2	A	G	9: 113,906,127	D1011G	possibly damaging	Het
Csmd3	A	G	15: 47,849,755	Y1608H	probably damaging	Het
Dcaf1	T	C	9: 106,834,191	I77T	probably benign	Het
Dcdc2a	T	C	13: 25,102,604	L170P	probably damaging	Het
Ddx28	A	G	8: 106,010,580	F282S	probably damaging	Het
Egf	A	G	3: 129,686,260	I497T	probably benign	Het
Emsy	A	G	7: 98,593,455	V1159A	probably benign	Het
Fam46c	T	C	3: 100,473,174	K89E	probably benign	Het
Hk3	C	A	13: 55,007,063		probably benign	Het
Htt	A	G	5: 34,878,856	D2049G	probably benign	Het
Inpp5d	C	A	1: 87,683,750	S45*	probably null	Het
Irf8	A	G	8: 120,753,380	Y119C	probably damaging	Het
Klk1b4	T	C	7: 44,211,176		probably null	Het
Macf1	A	G	4: 123,486,720	S1273P	probably damaging	Het
Man2c1	A	T	9: 57,141,819	H867L	probably benign	Het
Mgat4e	T	C	1: 134,541,449	T286A	probably damaging	Het
Mug2	T	C	6: 122,081,279	F1267L	possibly damaging	Het
Necab1	T	A	4: 15,005,079	E128D	probably damaging	Het
Olfr1331	G	A	4: 118,869,131	V117I	probably benign	Het
Pds5a	A	G	5: 65,615,294	V1322A	probably benign	Het
Poc1b	C	T	10: 99,129,641	T144I	probably damaging	Het
Prcc	T	A	3: 87,870,080	N196Y	probably damaging	Het
Psma5	G	A	3: 108,279,795	V237M	possibly damaging	Het
Rapgef3	A	G	15: 97,748,223	F132S	probably damaging	Het
Rgs13	T	G	1: 144,171,441	D14A	probably benign	Het
Stxbp4	A	G	11: 90,621,649		probably benign	Het
Tcerg1	C	A	18: 42,573,309	A1017D	probably damaging	Het
Tmem79	T	C	3: 88,332,576	I276V	possibly damaging	Het
Tmem94	C	A	11: 115,790,009	H113N	probably damaging	Het
Vil1	G	A	1: 74,428,238	D715N	probably damaging	Het
Vmn2r96	A	G	17: 18,582,964	T187A	probably benign	Het
Zfhx4	T	A	3: 5,413,094	S3590T	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
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
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

Posted On

2013-10-07