Mutagenetix > Incidental Mutation

Incidental Mutation 'R1960:Rap1gds1'

318013

Institutional Source

Beutler Lab

Gene Symbol

Rap1gds1

Ensembl Gene

ENSMUSG00000028149

Gene Name

RAP1, GTP-GDP dissociation stimulator 1

Synonyms

GDS1

MMRRC Submission

039974-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.657) question?

Stock #

R1960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138631663-138780962 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138756317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 13 (I13V)

Ref Sequence

ENSEMBL: ENSMUSP00000143181 (fasta)

Gene Model

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

AlphaFold

E9Q912

Predicted Effect

probably null
Transcript: ENSMUST00000029796
AA Change: I13V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000029796
Gene: ENSMUSG00000028149
AA Change: I13V

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
AA Change: I13V

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000096173
Gene: ENSMUSG00000028149
AA Change: I13V

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
AA Change: I13V

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably null
Transcript: ENSMUST00000196280
AA Change: I13V

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143181
Gene: ENSMUSG00000028149
AA Change: I13V

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 null
Transcript: ENSMUST00000200396
AA Change: I13V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143517
Gene: ENSMUSG00000028149
AA Change: I13V

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

0.0732

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (95/95)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	C	T	3: 145,643,976 (GRCm39)	P55S	probably damaging	Het
Adgre4	T	C	17: 56,098,497 (GRCm39)	S136P	probably benign	Het
Aoc1l1	C	T	6: 48,952,687 (GRCm39)	T204I	probably damaging	Het
Arap1	C	A	7: 101,022,222 (GRCm39)	A8E	probably damaging	Het
Arid1a	A	T	4: 133,480,401 (GRCm39)	H174Q	possibly damaging	Het
Btbd2	A	G	10: 80,480,539 (GRCm39)	I358T	probably benign	Het
Camkk2	G	A	5: 122,875,575 (GRCm39)	R492*	probably null	Het
Capn3	T	C	2: 120,294,421 (GRCm39)	V23A	probably benign	Het
Carm1	T	G	9: 21,491,606 (GRCm39)	V225G	probably benign	Het
Ccdc113	T	A	8: 96,267,459 (GRCm39)	N141K	probably benign	Het
Ccdc60	C	A	5: 116,284,243 (GRCm39)	M298I	probably benign	Het
Celsr3	C	T	9: 108,723,016 (GRCm39)	P2801L	probably benign	Het
Clec4n	T	A	6: 123,207,505 (GRCm39)	V23E	probably damaging	Het
Cmtr2	T	G	8: 110,948,382 (GRCm39)	L231V	probably damaging	Het
Csrnp3	T	G	2: 65,853,363 (GRCm39)	V585G	probably null	Het
Ctnnd2	T	C	15: 30,647,257 (GRCm39)	S318P	probably damaging	Het
Cubn	A	T	2: 13,344,828 (GRCm39)		probably null	Het
Dgkd	C	A	1: 87,857,549 (GRCm39)	P754T	possibly damaging	Het
Dnah7a	A	G	1: 53,724,142 (GRCm39)	S108P	probably benign	Het
Dnajc24	A	G	2: 105,832,268 (GRCm39)		probably benign	Het
Dner	A	T	1: 84,423,177 (GRCm39)	S475R	probably damaging	Het
Dtnb	T	C	12: 3,831,190 (GRCm39)	L630P	probably benign	Het
Dysf	T	C	6: 84,050,885 (GRCm39)	F411L	probably benign	Het
Fbh1	G	A	2: 11,762,339 (GRCm39)	A566V	probably damaging	Het
Fbxw19	G	T	9: 109,315,004 (GRCm39)	T186K	probably benign	Het
Flacc1	A	T	1: 58,698,437 (GRCm39)	V327D	possibly damaging	Het
Gm4825	A	G	15: 85,395,245 (GRCm39)		noncoding transcript	Het
Grhl2	T	A	15: 37,336,558 (GRCm39)	V54D	probably damaging	Het
Hmcn1	T	C	1: 150,551,742 (GRCm39)	I2621V	probably benign	Het
Hmcn1	T	A	1: 150,553,127 (GRCm39)	E2521V	possibly damaging	Het
Kcng1	A	G	2: 168,104,904 (GRCm39)	V314A	probably benign	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kifc1	A	G	17: 34,103,561 (GRCm39)		probably null	Het
Klk13	T	A	7: 43,370,431 (GRCm39)	N31K	possibly damaging	Het
Klri1	T	A	6: 129,674,347 (GRCm39)	H221L	probably benign	Het
Ltbp4	G	A	7: 27,028,443 (GRCm39)	P273L	unknown	Het
Med16	T	C	10: 79,742,929 (GRCm39)	H14R	possibly damaging	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Mrgpra2a	T	A	7: 47,076,983 (GRCm39)	I92F	probably benign	Het
Muc5b	T	C	7: 141,416,374 (GRCm39)	C3107R	possibly damaging	Het
Myo5a	T	A	9: 75,055,139 (GRCm39)	F441I	probably damaging	Het
Ndst4	T	A	3: 125,232,331 (GRCm39)	L300*	probably null	Het
Nlgn2	G	T	11: 69,718,136 (GRCm39)	D356E	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Oas1f	G	A	5: 120,994,502 (GRCm39)	C341Y	possibly damaging	Het
Olfm5	A	T	7: 103,809,619 (GRCm39)	C111S	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or2ag15	T	C	7: 106,340,601 (GRCm39)	E180G	probably damaging	Het
Or5d46	T	C	2: 88,170,545 (GRCm39)	L212P	probably damaging	Het
Or6c74	C	T	10: 129,870,187 (GRCm39)	Q231*	probably null	Het
Or6f2	A	T	7: 139,756,596 (GRCm39)	I188L	probably benign	Het
Or8b12c	A	G	9: 37,715,242 (GRCm39)	I12V	probably benign	Het
Or8g51	T	A	9: 38,609,500 (GRCm39)	H58L	probably benign	Het
Pde10a	T	C	17: 9,161,750 (GRCm39)	I477T	possibly damaging	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pdgfrb	A	T	18: 61,198,855 (GRCm39)	T338S	probably benign	Het
Pgghg	A	G	7: 140,523,260 (GRCm39)	M180V	probably benign	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pot1b	A	T	17: 55,969,531 (GRCm39)	Y546N	probably damaging	Het
Rangap1	T	C	15: 81,590,704 (GRCm39)	T463A	probably benign	Het
Rbak	A	T	5: 143,160,437 (GRCm39)	Y205*	probably null	Het
Reg3b	A	T	6: 78,348,797 (GRCm39)	K31M	probably damaging	Het
Rfpl4	A	T	7: 5,118,533 (GRCm39)	Y12*	probably null	Het
Rnase6	A	G	14: 51,367,889 (GRCm39)	N94D	possibly damaging	Het
Rtn4	T	C	11: 29,686,464 (GRCm39)	L273P	probably damaging	Het
Ryr3	A	C	2: 112,624,812 (GRCm39)	F2203V	probably damaging	Het
Sae1	A	T	7: 16,102,490 (GRCm39)	D161E	possibly damaging	Het
Sema5a	T	C	15: 32,562,877 (GRCm39)	F296S	possibly damaging	Het
Sh3rf1	C	A	8: 61,837,897 (GRCm39)	P814Q	probably damaging	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc25a25	C	T	2: 32,310,663 (GRCm39)		probably null	Het
Slco4c1	T	A	1: 96,795,654 (GRCm39)	M135L	probably benign	Het
Slfn1	A	G	11: 83,012,579 (GRCm39)	I232V	possibly damaging	Het
Slitrk1	T	A	14: 109,149,622 (GRCm39)	N363I	probably damaging	Het
Srr	A	G	11: 74,799,542 (GRCm39)	V311A	probably damaging	Het
Tasor	T	C	14: 27,160,621 (GRCm39)	S128P	probably damaging	Het
Tasor	C	T	14: 27,201,746 (GRCm39)	H1419Y	possibly damaging	Het
Tenm1	T	C	X: 41,916,078 (GRCm39)	D402G	probably benign	Het
Topors	T	C	4: 40,261,044 (GRCm39)	R747G	unknown	Het
Trank1	A	T	9: 111,220,696 (GRCm39)	I2478F	probably damaging	Het
Trim69	A	G	2: 121,998,165 (GRCm39)	N46D	probably benign	Het
Trpm1	T	A	7: 63,879,978 (GRCm39)	L661Q	probably damaging	Het
Ttbk1	A	C	17: 46,791,150 (GRCm39)	F45V	probably damaging	Het
Ttn	T	C	2: 76,644,649 (GRCm39)	K4708R	probably damaging	Het
Unkl	A	G	17: 25,428,619 (GRCm39)		probably benign	Het
Uros	A	T	7: 133,288,735 (GRCm39)	N257K	probably benign	Het
Usp25	A	G	16: 76,873,259 (GRCm39)	Y439C	probably damaging	Het
Vgf	A	G	5: 137,061,029 (GRCm39)		probably benign	Het
Vmn2r8	A	T	5: 108,947,152 (GRCm39)	D533E	probably damaging	Het
Vps13a	A	T	19: 16,702,995 (GRCm39)	Y653N	probably damaging	Het
Zfp358	T	C	8: 3,545,742 (GRCm39)	V135A	possibly damaging	Het

Other mutations in Rap1gds1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Rap1gds1	APN	3	138,689,588 (GRCm39)	missense	possibly damaging	0.95
IGL01314:Rap1gds1	APN	3	138,756,322 (GRCm39)	missense	probably damaging	1.00
IGL01450:Rap1gds1	APN	3	138,671,681 (GRCm39)	missense	probably damaging	1.00
IGL02033:Rap1gds1	APN	3	138,661,232 (GRCm39)	splice site	probably benign
IGL02658:Rap1gds1	APN	3	138,663,240 (GRCm39)	missense	probably damaging	1.00
IGL02745:Rap1gds1	APN	3	138,662,002 (GRCm39)	missense	probably damaging	1.00
IGL02880:Rap1gds1	APN	3	138,651,517 (GRCm39)	missense	probably benign	0.16
PIT4305001:Rap1gds1	UTSW	3	138,662,061 (GRCm39)	missense	probably benign	0.05
R0006:Rap1gds1	UTSW	3	138,689,632 (GRCm39)	splice site	probably null
R0006:Rap1gds1	UTSW	3	138,689,632 (GRCm39)	splice site	probably null
R0585:Rap1gds1	UTSW	3	138,727,633 (GRCm39)	missense	probably benign	0.16
R1573:Rap1gds1	UTSW	3	138,671,624 (GRCm39)	splice site	probably null
R1793:Rap1gds1	UTSW	3	138,756,314 (GRCm39)	missense	possibly damaging	0.94
R2432:Rap1gds1	UTSW	3	138,662,011 (GRCm39)	missense	probably damaging	0.99
R2697:Rap1gds1	UTSW	3	138,689,482 (GRCm39)	critical splice donor site	probably null
R3792:Rap1gds1	UTSW	3	138,671,721 (GRCm39)	missense	probably damaging	1.00
R4031:Rap1gds1	UTSW	3	138,756,353 (GRCm39)	splice site	probably benign
R4194:Rap1gds1	UTSW	3	138,664,851 (GRCm39)	missense	probably damaging	1.00
R4530:Rap1gds1	UTSW	3	138,663,186 (GRCm39)	missense	probably damaging	1.00
R4696:Rap1gds1	UTSW	3	138,633,375 (GRCm39)	missense	probably damaging	1.00
R4909:Rap1gds1	UTSW	3	138,689,509 (GRCm39)	missense	possibly damaging	0.77
R5000:Rap1gds1	UTSW	3	138,662,011 (GRCm39)	missense	probably damaging	1.00
R5046:Rap1gds1	UTSW	3	138,661,181 (GRCm39)	nonsense	probably null
R5152:Rap1gds1	UTSW	3	138,661,962 (GRCm39)	missense	probably damaging	1.00
R5163:Rap1gds1	UTSW	3	138,664,817 (GRCm39)	missense	probably damaging	0.99
R5309:Rap1gds1	UTSW	3	138,664,389 (GRCm39)	missense	probably damaging	1.00
R5312:Rap1gds1	UTSW	3	138,664,389 (GRCm39)	missense	probably damaging	1.00
R5782:Rap1gds1	UTSW	3	138,664,840 (GRCm39)	missense	possibly damaging	0.65
R5825:Rap1gds1	UTSW	3	138,661,136 (GRCm39)	missense	possibly damaging	0.93
R6547:Rap1gds1	UTSW	3	138,661,099 (GRCm39)	missense	probably damaging	1.00
R7227:Rap1gds1	UTSW	3	138,663,228 (GRCm39)	missense	probably damaging	1.00
R7228:Rap1gds1	UTSW	3	138,663,228 (GRCm39)	missense	probably damaging	1.00
R7574:Rap1gds1	UTSW	3	138,661,976 (GRCm39)	nonsense	probably null
R7711:Rap1gds1	UTSW	3	138,664,874 (GRCm39)	missense	probably benign	0.08
R8035:Rap1gds1	UTSW	3	138,721,311 (GRCm39)	missense	probably damaging	1.00
R8432:Rap1gds1	UTSW	3	138,647,548 (GRCm39)	missense	probably damaging	0.99
R8736:Rap1gds1	UTSW	3	138,647,512 (GRCm39)	missense	probably benign	0.00
R8768:Rap1gds1	UTSW	3	138,647,521 (GRCm39)	missense	probably benign	0.00
R8901:Rap1gds1	UTSW	3	138,663,305 (GRCm39)	missense	probably damaging	1.00
R9008:Rap1gds1	UTSW	3	138,661,177 (GRCm39)	missense	probably benign	0.05
R9526:Rap1gds1	UTSW	3	138,756,317 (GRCm39)	missense	probably benign	0.00
RF053:Rap1gds1	UTSW	3	138,647,418 (GRCm39)	frame shift	probably null
Z1177:Rap1gds1	UTSW	3	138,756,300 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAGAGAACACTGCAAACAATTTC -3'
(R):5'- TTTTGCAGTAACTCAGGGCC -3'

Sequencing Primer
(F):5'- GATCCAAAAGCATACAAGCTATGTG -3'
(R):5'- TGCAGTAACTCAGGGCCACTTG -3'

Posted On

2015-05-19