Mutagenetix > Incidental Mutation

Incidental Mutation 'R4621:Racgap1'

346187

Institutional Source

Beutler Lab

Gene Symbol

Racgap1

Ensembl Gene

ENSMUSG00000023015

Gene Name

Rac GTPase-activating protein 1

Synonyms

gtl11, MgcRacGAP, GTPase, Band25

MMRRC Submission

041886-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4621 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

99518377-99549504 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99524087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 440 (S440I)

Ref Sequence

ENSEMBL: ENSMUSP00000126417 (fasta)

Gene Model

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

AlphaFold

Q9WVM1

Predicted Effect

probably benign
Transcript: ENSMUST00000023756
AA Change: S440I

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023756
Gene: ENSMUSG00000023015
AA Change: S440I

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 benign
Transcript: ENSMUST00000171702
AA Change: S440I

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126417
Gene: ENSMUSG00000023015
AA Change: S440I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

100% (90/90)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 78,975,235 (GRCm39)	Y142H	probably damaging	Het
Abra	C	T	15: 41,732,620 (GRCm39)	D149N	probably benign	Het
Acin1	A	T	14: 54,890,900 (GRCm39)		probably benign	Het
Adap2	T	A	11: 80,064,899 (GRCm39)		probably null	Het
Afdn	A	G	17: 14,109,082 (GRCm39)	E1535G	probably damaging	Het
Ajm1	G	A	2: 25,468,412 (GRCm39)	P500S	probably damaging	Het
Ak9	A	G	10: 41,282,887 (GRCm39)	N1218D	possibly damaging	Het
Angptl1	G	A	1: 156,672,494 (GRCm39)	V107M	probably damaging	Het
Arhgap26	G	A	18: 39,032,894 (GRCm39)		probably benign	Het
Cage1	A	C	13: 38,209,477 (GRCm39)	S61A	possibly damaging	Het
Cdadc1	T	C	14: 59,824,004 (GRCm39)	T163A	probably benign	Het
Celsr2	A	T	3: 108,302,532 (GRCm39)	V2568D	possibly damaging	Het
Cep44	G	A	8: 56,995,951 (GRCm39)	T166M	probably damaging	Het
Cnksr3	T	C	10: 7,076,182 (GRCm39)	K187E	possibly damaging	Het
Cyp20a1	A	G	1: 60,415,258 (GRCm39)	T295A	probably benign	Het
Dus2	T	A	8: 106,757,074 (GRCm39)	M88K	probably damaging	Het
E330034G19Rik	A	T	14: 24,346,070 (GRCm39)		probably benign	Het
Ecrg4	G	A	1: 43,776,412 (GRCm39)		probably null	Het
Efna5	T	C	17: 62,958,040 (GRCm39)	D72G	probably benign	Het
Epb41l2	T	C	10: 25,378,038 (GRCm39)		probably null	Het
Espn	A	G	4: 152,215,709 (GRCm39)	S408P	probably damaging	Het
Evi5l	T	C	8: 4,252,909 (GRCm39)		probably benign	Het
F830016B08Rik	G	A	18: 60,433,939 (GRCm39)	V341I	probably benign	Het
Flii	A	G	11: 60,606,937 (GRCm39)	L1013P	possibly damaging	Het
Fndc10	G	A	4: 155,779,264 (GRCm39)	V103M	probably damaging	Het
Frem3	T	A	8: 81,395,820 (GRCm39)		probably null	Het
Gltp	C	T	5: 114,812,188 (GRCm39)	R106Q	probably damaging	Het
Gtf3c3	A	G	1: 54,458,575 (GRCm39)	Y449H	probably damaging	Het
H1f9	G	A	11: 94,858,986 (GRCm39)	V94M	probably damaging	Het
Hmga1b	T	C	11: 120,653,866 (GRCm39)	V51A	probably damaging	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Igkv13-84	T	C	6: 68,916,783 (GRCm39)	S27P	possibly damaging	Het
Il15ra	A	G	2: 11,723,140 (GRCm39)	N55D	possibly damaging	Het
Kctd19	T	G	8: 106,123,103 (GRCm39)	N104H	probably damaging	Het
Kif27	T	G	13: 58,478,827 (GRCm39)	D572A	probably benign	Het
Larp1b	G	A	3: 40,918,424 (GRCm39)	G22R	possibly damaging	Het
Lcn2	A	T	2: 32,274,655 (GRCm39)		probably benign	Het
Lmtk2	T	A	5: 144,111,752 (GRCm39)	I824N	probably benign	Het
Ltbp2	A	G	12: 84,856,122 (GRCm39)	I707T	probably damaging	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Mcoln1	A	G	8: 3,555,923 (GRCm39)	I73V	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mycbp2	G	T	14: 103,457,415 (GRCm39)	T1627K	probably benign	Het
Myh8	A	G	11: 67,177,084 (GRCm39)	E412G	probably damaging	Het
Myo9a	T	A	9: 59,778,355 (GRCm39)	D1370E	probably benign	Het
Ndufaf5	A	G	2: 140,025,845 (GRCm39)	T135A	probably benign	Het
Neb	G	A	2: 52,161,051 (GRCm39)	Q2207*	probably null	Het
Nek3	T	C	8: 22,647,055 (GRCm39)	Y160C	probably damaging	Het
Or2y6	G	C	11: 52,104,706 (GRCm39)	L37V	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Osbpl8	A	G	10: 111,105,279 (GRCm39)	I245V	probably benign	Het
Pcdh9	T	C	14: 94,125,079 (GRCm39)	I241V	probably benign	Het
Pcdhb12	A	G	18: 37,570,213 (GRCm39)	Q453R	probably benign	Het
Pcdhb2	A	G	18: 37,428,980 (GRCm39)	T318A	probably benign	Het
Prlr	T	A	15: 10,319,462 (GRCm39)		probably benign	Het
Ptprz1	C	T	6: 23,001,453 (GRCm39)	A1181V	possibly damaging	Het
Rap1gap2	A	G	11: 74,326,525 (GRCm39)		probably null	Het
Rbm5	A	G	9: 107,631,345 (GRCm39)	V244A	probably damaging	Het
Rexo5	T	G	7: 119,418,722 (GRCm39)	I254R	probably benign	Het
Robo2	A	T	16: 73,782,821 (GRCm39)	S316T	probably benign	Het
Satb2	A	T	1: 56,884,778 (GRCm39)	V382E	probably damaging	Het
Scg2	C	T	1: 79,414,381 (GRCm39)	R114Q	probably benign	Het
Scube2	T	C	7: 109,399,857 (GRCm39)	D893G	possibly damaging	Het
Snrpn	T	C	7: 59,637,274 (GRCm39)	D14G	possibly damaging	Het
Spag17	A	G	3: 100,010,559 (GRCm39)	T2018A	probably benign	Het
Spata9	T	G	13: 76,116,001 (GRCm39)	F17V	possibly damaging	Het
Supt6	A	G	11: 78,103,572 (GRCm39)	Y1378H	possibly damaging	Het
Thsd7b	T	C	1: 129,358,652 (GRCm39)	S29P	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Tmem87a	A	G	2: 120,227,905 (GRCm39)	S81P	probably benign	Het
Togaram1	A	T	12: 65,029,224 (GRCm39)	E882D	possibly damaging	Het
Trbj2-4	T	A	6: 41,520,308 (GRCm39)		probably benign	Het
Trim42	T	A	9: 97,245,201 (GRCm39)	Y533F	probably benign	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Vmn1r82	A	G	7: 12,039,263 (GRCm39)	T179A	possibly damaging	Het
Yipf7	T	A	5: 69,676,704 (GRCm39)	Q145L	possibly damaging	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
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
R6513:Racgap1	UTSW	15	99,522,156 (GRCm39)	missense	probably damaging	1.00
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'- TCTAGTTCAGGGAAGAAACGGC -3'
(R):5'- CGATGGTGATTTGGAAGTTCCTAAG -3'

Sequencing Primer
(F):5'- TTCAGGGAAGAAACGGCATGATG -3'
(R):5'- GTGTCATCTCTATAACAGGCAGGC -3'

Posted On

2015-09-25