Mutagenetix > Incidental Mutation

Incidental Mutation 'R8292:Racgap1'

638764

Institutional Source

Beutler Lab

Gene Symbol

Racgap1

Ensembl Gene

ENSMUSG00000023015

Gene Name

Rac GTPase-activating protein 1

Synonyms

gtl11, MgcRacGAP, GTPase, Band25

MMRRC Submission

067782-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8292 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99518377-99549504 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 99520127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 595 (L595*)

Ref Sequence

ENSEMBL: ENSMUSP00000023756 (fasta)

Gene Model

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

AlphaFold

Q9WVM1

Predicted Effect

probably null
Transcript: ENSMUST00000023756
AA Change: L595*

SMART Domains

Protein: ENSMUSP00000023756
Gene: ENSMUSG00000023015
AA Change: L595*

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

probably null
Transcript: ENSMUST00000171702
AA Change: L595*

SMART Domains

Protein: ENSMUSP00000126417
Gene: ENSMUSG00000023015
AA Change: L595*

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,338,555 (GRCm39)		probably null	Het
Akirin2	T	C	4: 34,566,007 (GRCm39)		probably null	Het
Akr1c14	A	G	13: 4,130,995 (GRCm39)	D229G	possibly damaging	Het
Arfgef1	T	C	1: 10,227,194 (GRCm39)	I1382V	probably benign	Het
Bcas3	C	A	11: 85,348,729 (GRCm39)	A207D	probably damaging	Het
Bcl2l10	T	C	9: 75,255,160 (GRCm39)		probably benign	Het
Cdc42	T	C	4: 137,063,384 (GRCm39)	T3A	probably benign	Het
Celsr1	C	A	15: 85,791,819 (GRCm39)	W2594L	possibly damaging	Het
Chrna6	A	T	8: 27,896,754 (GRCm39)	H374Q	probably benign	Het
Cibar1	T	G	4: 12,153,963 (GRCm39)	T330P	possibly damaging	Het
Clcnka	G	A	4: 141,125,272 (GRCm39)	R30*	probably null	Het
Clptm1l	A	T	13: 73,765,854 (GRCm39)	H464L	probably damaging	Het
Col6a4	A	T	9: 105,954,076 (GRCm39)	M421K	probably benign	Het
Crybg2	T	C	4: 133,802,842 (GRCm39)	S873P	probably damaging	Het
Dixdc1	A	G	9: 50,621,989 (GRCm39)	V114A	probably benign	Het
Etv6	T	C	6: 134,225,509 (GRCm39)	C247R	probably benign	Het
Farp2	T	C	1: 93,456,350 (GRCm39)	L11S	probably damaging	Het
Gbp2	G	A	3: 142,329,584 (GRCm39)	V44M	probably damaging	Het
Get4	A	G	5: 139,248,686 (GRCm39)	D99G	probably null	Het
Glcci1	G	A	6: 8,558,549 (GRCm39)	R212H	probably damaging	Het
Gm14295	T	A	2: 176,501,351 (GRCm39)	F280L	probably damaging	Het
Gm5407	T	A	16: 49,117,550 (GRCm39)	N70Y	noncoding transcript	Het
Hace1	C	G	10: 45,587,557 (GRCm39)	Y885*	probably null	Het
Hectd4	G	A	5: 121,455,288 (GRCm39)	R644Q	possibly damaging	Het
Impg2	A	T	16: 56,080,989 (GRCm39)	E931V	probably damaging	Het
Kif5c	A	T	2: 49,625,497 (GRCm39)	Y589F	probably benign	Het
Krr1	T	A	10: 111,813,021 (GRCm39)	V132E	possibly damaging	Het
Luzp1	T	G	4: 136,269,764 (GRCm39)	D662E	probably benign	Het
Mc4r	A	T	18: 66,993,082 (GRCm39)	Y10*	probably null	Het
Mfng	T	C	15: 78,657,370 (GRCm39)	I35V	probably benign	Het
Mprip	T	A	11: 59,650,340 (GRCm39)	I1348K	probably benign	Het
Mrgprb3	G	T	7: 48,293,255 (GRCm39)	Q99K	probably benign	Het
Mrgprb4	A	T	7: 47,848,554 (GRCm39)	S125T	probably damaging	Het
Mrgprg	A	T	7: 143,318,656 (GRCm39)	M152K	probably benign	Het
Muc5ac	A	C	7: 141,363,000 (GRCm39)	I2104L	unknown	Het
Myom2	A	G	8: 15,182,888 (GRCm39)	I1442V	probably benign	Het
Nell1	T	C	7: 49,907,995 (GRCm39)	C385R	probably damaging	Het
Nid2	T	G	14: 19,818,346 (GRCm39)	V280G	probably damaging	Het
Npr2	T	A	4: 43,643,086 (GRCm39)	M490K	possibly damaging	Het
Prr12	A	G	7: 44,684,112 (GRCm39)	F1643L	probably damaging	Het
Psg16	G	A	7: 16,827,701 (GRCm39)	G128D	probably damaging	Het
Rbbp8	T	C	18: 11,838,769 (GRCm39)	V150A	probably benign	Het
Rbbp9	T	C	2: 144,390,017 (GRCm39)	T49A	probably benign	Het
Rbm20	C	A	19: 53,839,930 (GRCm39)	T973K	possibly damaging	Het
Robo1	A	T	16: 72,769,420 (GRCm39)	I582F	possibly damaging	Het
Rps6ka5	A	T	12: 100,644,791 (GRCm39)	V53D	possibly damaging	Het
Slc35f6	G	T	5: 30,813,375 (GRCm39)	V156L	probably benign	Het
Smpd3	T	C	8: 106,991,422 (GRCm39)	H377R	probably benign	Het
Son	G	A	16: 91,453,545 (GRCm39)	S764N	possibly damaging	Het
Srgn	A	T	10: 62,343,447 (GRCm39)	V16D	possibly damaging	Het
Tex14	G	A	11: 87,388,664 (GRCm39)	R297Q	probably damaging	Het
Tiam2	T	C	17: 3,557,142 (GRCm39)	V1194A	probably benign	Het
Tlr6	A	C	5: 65,111,134 (GRCm39)	L591R	probably damaging	Het
Tmem143	A	G	7: 45,558,964 (GRCm39)	K302R	probably damaging	Het
Ttc28	A	G	5: 111,371,123 (GRCm39)	Y555C	probably damaging	Het
Usp32	T	A	11: 84,968,227 (GRCm39)	K145N	probably damaging	Het
Zbtb40	T	C	4: 136,726,878 (GRCm39)	Y486C	probably 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
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
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
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'- GATTCCTACAGGTCTGCACTG -3'
(R):5'- AACTGCTGCATGTCTGACCG -3'

Sequencing Primer
(F):5'- TCTGCTGCGACTCAATCACAGG -3'
(R):5'- GTCAGAGGCGGGTCAGTG -3'

Posted On

2020-07-28