Mutagenetix > Incidental Mutation

Incidental Mutation 'R6513:Racgap1'

520027

Institutional Source

Beutler Lab

Gene Symbol

Racgap1

Ensembl Gene

ENSMUSG00000023015

Gene Name

Rac GTPase-activating protein 1

Synonyms

gtl11, MgcRacGAP, GTPase, Band25

MMRRC Submission

044640-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6513 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99518377-99549504 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99522156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 471 (R471G)

Ref Sequence

ENSEMBL: ENSMUSP00000126417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023756] [ENSMUST00000168065] [ENSMUST00000171702]

AlphaFold

Q9WVM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000023756
AA Change: R471G

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

SMART Domains

Protein: ENSMUSP00000023756
Gene: ENSMUSG00000023015
AA Change: R471G

Domain	Start	End	E-Value	Type
coiled coil region	35	110	N/A	INTRINSIC
C1	288	336	2.44e-5	SMART
RhoGAP	361	537	3.4e-51	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165745

Predicted Effect

probably benign
Transcript: ENSMUST00000168065

SMART Domains

Protein: ENSMUSP00000132732
Gene: ENSMUSG00000023015

Domain	Start	End	E-Value	Type
coiled coil region	6	81	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171017

Predicted Effect

probably damaging
Transcript: ENSMUST00000171702
AA Change: R471G

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

SMART Domains

Protein: ENSMUSP00000126417
Gene: ENSMUSG00000023015
AA Change: R471G

Domain	Start	End	E-Value	Type
coiled coil region	35	110	N/A	INTRINSIC
C1	288	336	2.44e-5	SMART
RhoGAP	361	537	3.4e-51	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016]
PHENOTYPE: Embryos homozygous for a gene-trapped allele exhibit pre-implantation lethality associated with the formation of multinucleated blastomeres and failure to complete cytokinesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	C	16: 90,852,654 (GRCm39)	S161G	probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Ankrd11	A	G	8: 123,616,919 (GRCm39)	V2290A	probably benign	Het
Aox4	A	G	1: 58,252,212 (GRCm39)	N29S	probably benign	Het
Arhgap17	T	C	7: 122,891,379 (GRCm39)	R592G	possibly damaging	Het
Caap1	A	T	4: 94,389,640 (GRCm39)	D231E	possibly damaging	Het
Cabp1	T	A	5: 115,307,193 (GRCm39)	M165L	possibly damaging	Het
Calhm4	T	A	10: 33,917,630 (GRCm39)	R274*	probably null	Het
Cep72	A	T	13: 74,206,582 (GRCm39)	L73H	probably damaging	Het
Cfap74	A	G	4: 155,525,743 (GRCm39)	S731G	probably null	Het
Dsc2	T	C	18: 20,179,295 (GRCm39)	I258V	probably benign	Het
Dsg1c	T	G	18: 20,407,687 (GRCm39)	N344K	probably benign	Het
Enah	A	G	1: 181,841,920 (GRCm39)		probably benign	Het
Fbn1	T	A	2: 125,225,591 (GRCm39)	S554C	probably damaging	Het
Fkrp	C	A	7: 16,545,037 (GRCm39)	R275L	possibly damaging	Het
Gbp4	C	T	5: 105,270,986 (GRCm39)	G215D	possibly damaging	Het
Gli2	G	A	1: 118,783,284 (GRCm39)	L239F	probably damaging	Het
Gpr146	A	G	5: 139,378,573 (GRCm39)	D125G	probably damaging	Het
Hectd4	C	A	5: 121,494,259 (GRCm39)		probably null	Het
Invs	G	A	4: 48,397,534 (GRCm39)	V370I	possibly damaging	Het
Kdm2b	A	G	5: 123,018,302 (GRCm39)	V1040A	probably damaging	Het
Kidins220	T	A	12: 25,088,434 (GRCm39)	V1059D	possibly damaging	Het
Kif26a	T	A	12: 112,141,926 (GRCm39)	S727T	probably damaging	Het
Kifbp	T	C	10: 62,410,813 (GRCm39)		probably null	Het
Klk1b27	A	G	7: 43,705,169 (GRCm39)	H112R	probably benign	Het
Krt72	T	G	15: 101,685,187 (GRCm39)		probably null	Het
Lactb	C	T	9: 66,878,172 (GRCm39)	R219H	probably damaging	Het
Lrig2	A	T	3: 104,373,045 (GRCm39)	I612N	probably damaging	Het
Meaf6	A	C	4: 124,983,697 (GRCm39)	N51T	probably damaging	Het
Mtap	A	G	4: 89,066,498 (GRCm39)	T36A	possibly damaging	Het
Myo3a	G	A	2: 22,412,143 (GRCm39)	G713S	probably damaging	Het
Nr4a3	C	T	4: 48,083,255 (GRCm39)	T596I	probably damaging	Het
Or10ak14	A	T	4: 118,611,224 (GRCm39)	C172*	probably null	Het
Or4f14	C	G	2: 111,743,228 (GRCm39)	G16R	possibly damaging	Het
Pam	A	G	1: 97,765,752 (GRCm39)	V759A	possibly damaging	Het
Pcare	T	A	17: 72,051,701 (GRCm39)	E1217V	probably damaging	Het
Pds5a	T	A	5: 65,772,944 (GRCm39)	I1220F	probably benign	Het
Phldb2	T	A	16: 45,568,240 (GRCm39)	M1222L	possibly damaging	Het
Phospho1	C	T	11: 95,721,513 (GRCm39)	A61V	possibly damaging	Het
Pnpla7	G	A	2: 24,906,550 (GRCm39)	V638I	possibly damaging	Het
Pramel34	C	A	5: 93,785,391 (GRCm39)		probably null	Het
Ptf1a	T	A	2: 19,451,848 (GRCm39)	D282E	probably damaging	Het
Ptgs2	A	T	1: 149,975,879 (GRCm39)		probably benign	Het
Rptn	T	C	3: 93,303,419 (GRCm39)	S251P	possibly damaging	Het
Shcbp1	T	C	8: 4,794,507 (GRCm39)	M429V	probably benign	Het
Shprh	T	C	10: 11,062,637 (GRCm39)	L1248P	probably damaging	Het
Son	T	C	16: 91,456,835 (GRCm39)		probably benign	Het
Sppl3	T	C	5: 115,233,995 (GRCm39)	L355P	probably damaging	Het
Tbc1d31	A	T	15: 57,818,778 (GRCm39)	R794W	probably damaging	Het
Telo2	T	C	17: 25,320,386 (GRCm39)	Y766C	probably damaging	Het
Tfr2	A	G	5: 137,572,793 (GRCm39)		probably null	Het
Tle4	T	C	19: 14,429,056 (GRCm39)	D722G	probably damaging	Het
Tprg1l	A	G	4: 154,243,862 (GRCm39)	V98A	probably benign	Het
Trak1	C	T	9: 121,272,822 (GRCm39)	R237C	probably benign	Het
Vmn2r113	T	C	17: 23,177,715 (GRCm39)	I833T	probably damaging	Het
Vmn2r118	T	A	17: 55,915,093 (GRCm39)	S518C	probably damaging	Het
Vmn2r49	A	G	7: 9,710,524 (GRCm39)	I736T	probably damaging	Het
Wdr38	T	A	2: 38,889,970 (GRCm39)		probably null	Het
Wee2	A	G	6: 40,429,553 (GRCm39)	E180G	probably benign	Het
Zbtb1	T	C	12: 76,432,604 (GRCm39)	S197P	possibly damaging	Het
Zc3h7a	T	C	16: 10,976,629 (GRCm39)		probably null	Het
Zfp516	T	A	18: 82,973,835 (GRCm39)	L11Q	probably damaging	Het
Zfp623	G	A	15: 75,819,317 (GRCm39)	R91H	probably benign	Het
Zkscan7	G	A	9: 122,725,170 (GRCm39)	R713Q	probably benign	Het

Other mutations in Racgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Racgap1	APN	15	99,534,003 (GRCm39)	unclassified	probably benign
IGL01450:Racgap1	APN	15	99,524,244 (GRCm39)	missense	probably benign	0.00
IGL01907:Racgap1	APN	15	99,524,214 (GRCm39)	nonsense	probably null
IGL02584:Racgap1	APN	15	99,521,515 (GRCm39)	missense	probably benign	0.00
IGL02733:Racgap1	APN	15	99,537,585 (GRCm39)	missense	probably damaging	1.00
IGL03137:Racgap1	APN	15	99,526,622 (GRCm39)	missense	probably damaging	0.96
IGL03145:Racgap1	APN	15	99,521,521 (GRCm39)	missense	probably benign	0.00
IGL02799:Racgap1	UTSW	15	99,530,628 (GRCm39)	missense	probably benign	0.09
R0106:Racgap1	UTSW	15	99,540,839 (GRCm39)	missense	possibly damaging	0.66
R0106:Racgap1	UTSW	15	99,540,839 (GRCm39)	missense	possibly damaging	0.66
R0140:Racgap1	UTSW	15	99,521,532 (GRCm39)	missense	probably benign	0.00
R0398:Racgap1	UTSW	15	99,526,508 (GRCm39)	splice site	probably benign
R0496:Racgap1	UTSW	15	99,537,713 (GRCm39)	splice site	probably benign
R0528:Racgap1	UTSW	15	99,526,587 (GRCm39)	missense	probably damaging	1.00
R0893:Racgap1	UTSW	15	99,524,411 (GRCm39)	missense	probably benign
R0947:Racgap1	UTSW	15	99,522,195 (GRCm39)	missense	possibly damaging	0.83
R1348:Racgap1	UTSW	15	99,524,246 (GRCm39)	missense	possibly damaging	0.54
R1470:Racgap1	UTSW	15	99,537,656 (GRCm39)	missense	probably damaging	0.99
R1470:Racgap1	UTSW	15	99,537,656 (GRCm39)	missense	probably damaging	0.99
R1720:Racgap1	UTSW	15	99,526,650 (GRCm39)	nonsense	probably null
R2235:Racgap1	UTSW	15	99,524,417 (GRCm39)	missense	probably benign
R3624:Racgap1	UTSW	15	99,540,772 (GRCm39)	missense	probably damaging	0.97
R4621:Racgap1	UTSW	15	99,524,087 (GRCm39)	missense	probably benign	0.10
R4622:Racgap1	UTSW	15	99,524,087 (GRCm39)	missense	probably benign	0.10
R4623:Racgap1	UTSW	15	99,524,087 (GRCm39)	missense	probably benign	0.10
R5046:Racgap1	UTSW	15	99,526,643 (GRCm39)	missense	probably damaging	1.00
R5899:Racgap1	UTSW	15	99,521,509 (GRCm39)	missense	possibly damaging	0.80
R6306:Racgap1	UTSW	15	99,521,834 (GRCm39)	missense	probably benign
R6618:Racgap1	UTSW	15	99,521,875 (GRCm39)	missense	probably damaging	0.97
R6953:Racgap1	UTSW	15	99,524,210 (GRCm39)	missense	probably damaging	1.00
R7359:Racgap1	UTSW	15	99,529,081 (GRCm39)	missense	probably benign
R7463:Racgap1	UTSW	15	99,540,839 (GRCm39)	missense	probably benign
R8292:Racgap1	UTSW	15	99,520,127 (GRCm39)	nonsense	probably null
R8883:Racgap1	UTSW	15	99,526,540 (GRCm39)	missense	probably benign	0.00
R9227:Racgap1	UTSW	15	99,534,078 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- AGTGTCTGGACTCTGAGACAC -3'
(R):5'- GTTTCAGAAGCTCCGTGTATAGG -3'

Sequencing Primer
(F):5'- GACTCTGAGACACTCTGAATAAAAG -3'
(R):5'- AAGCTCCGTGTATAGGTGGGC -3'

Posted On

2018-06-06