Mutagenetix > Incidental Mutation

Incidental Mutation 'R4689:Rasa1'

354785

Institutional Source

Beutler Lab

Gene Symbol

Rasa1

Ensembl Gene

ENSMUSG00000021549

Gene Name

RAS p21 protein activator 1

Synonyms

Gap, p120-rasGAP

MMRRC Submission

041940-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85362899-85437249 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 85386282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 427 (Y427*)

Ref Sequence

ENSEMBL: ENSMUSP00000105179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109552]

AlphaFold

E9PYG6

Predicted Effect

probably null
Transcript: ENSMUST00000109552
AA Change: Y427*

SMART Domains

Protein: ENSMUSP00000105179
Gene: ENSMUSG00000021549
AA Change: Y427*

Domain	Start	End	E-Value	Type
low complexity region	3	32	N/A	INTRINSIC
low complexity region	37	106	N/A	INTRINSIC
low complexity region	119	142	N/A	INTRINSIC
SH2	170	253	9.44e-29	SMART
SH3	273	331	1.7e-10	SMART
SH2	340	423	7.44e-27	SMART
PH	466	570	5.11e-20	SMART
C2	586	680	6.9e-10	SMART
RasGAP	689	1035	2.77e-156	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153231

Predicted Effect

probably benign
Transcript: ENSMUST00000223598

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced embryonic growth associated with defects of both yolk sac and embryonic vascular systems resulting in lethality by embryonic day 10.5. Mice homozygous for a knock-in allele exhibit increased sensitivity to induced cell death and colitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,634,996 (GRCm39)	V336L	probably benign	Het
Acbd4	T	C	11: 102,996,194 (GRCm39)	L165P	possibly damaging	Het
Adam10	T	C	9: 70,673,236 (GRCm39)	S456P	possibly damaging	Het
Adgre4	T	C	17: 56,109,096 (GRCm39)	F368L	probably damaging	Het
Ahcyl1	G	T	3: 107,572,834 (GRCm39)	Y528*	probably null	Het
Aldh3b3	G	A	19: 4,014,516 (GRCm39)	V84M	probably damaging	Het
Cdca8	C	T	4: 124,824,896 (GRCm39)	G78E	probably damaging	Het
Cry2	T	C	2: 92,254,899 (GRCm39)	D152G	probably benign	Het
Cyp2c67	T	C	19: 39,627,032 (GRCm39)	Y266C	probably benign	Het
Dkk4	T	C	8: 23,115,336 (GRCm39)	F62S	probably benign	Het
Dnah12	G	A	14: 26,427,994 (GRCm39)	V207I	probably benign	Het
Dthd1	T	C	5: 63,000,255 (GRCm39)	C526R	probably damaging	Het
Dubr	A	T	16: 50,552,866 (GRCm39)		noncoding transcript	Het
F5	T	C	1: 163,979,542 (GRCm39)		probably benign	Het
Flcn	A	C	11: 59,691,870 (GRCm39)	W260G	possibly damaging	Het
Fmnl1	G	A	11: 103,084,562 (GRCm39)		probably null	Het
Frem2	A	T	3: 53,455,056 (GRCm39)	D2173E	probably benign	Het
Fstl4	C	T	11: 52,959,477 (GRCm39)	Q173*	probably null	Het
Gfra3	G	A	18: 34,823,640 (GRCm39)	P381S	unknown	Het
Gm28308	C	A	6: 52,190,291 (GRCm39)		probably benign	Het
Gm8730	T	A	8: 103,592,379 (GRCm39)		noncoding transcript	Het
Gzmd	T	C	14: 56,368,683 (GRCm39)		probably null	Het
Hexb	A	G	13: 97,317,600 (GRCm39)	Y366H	probably damaging	Het
Hydin	A	T	8: 111,322,046 (GRCm39)	H4566L	probably benign	Het
Ifi213	G	A	1: 173,417,986 (GRCm39)	T142I	possibly damaging	Het
Kif13b	T	A	14: 65,010,513 (GRCm39)	C1271S	probably damaging	Het
Krtap9-5	G	T	11: 99,840,286 (GRCm39)	C329F	unknown	Het
Larp1	G	T	11: 57,932,439 (GRCm39)	G207W	probably damaging	Het
Lfng	A	G	5: 140,600,194 (GRCm39)	D368G	probably damaging	Het
Mbd5	G	A	2: 49,148,291 (GRCm39)	V834I	possibly damaging	Het
Mterf1b	T	A	5: 4,247,263 (GRCm39)	Y301*	probably null	Het
Myh7b	T	C	2: 155,472,434 (GRCm39)	I1305T	possibly damaging	Het
Myo16	T	C	8: 10,488,890 (GRCm39)	V687A	probably damaging	Het
Naip2	A	T	13: 100,285,320 (GRCm39)	I1292N	probably damaging	Het
Nmral1	A	G	16: 4,532,422 (GRCm39)	F130L	probably damaging	Het
Nos1	A	G	5: 118,017,450 (GRCm39)	N271S	probably benign	Het
Nrap	A	G	19: 56,374,458 (GRCm39)	S23P	probably damaging	Het
Or12d16-ps1	A	T	17: 37,705,662 (GRCm39)	N77I	probably damaging	Het
Or2aj4	A	T	16: 19,385,263 (GRCm39)	Y123*	probably null	Het
Or4e2	T	C	14: 52,688,671 (GRCm39)	I267T	probably benign	Het
Or6c210	T	C	10: 129,496,185 (GRCm39)	V170A	probably benign	Het
Pkdcc	C	G	17: 83,523,290 (GRCm39)	C132W	probably damaging	Het
Plekhg6	G	A	6: 125,350,144 (GRCm39)	L265F	probably benign	Het
Prkaa1	A	G	15: 5,208,177 (GRCm39)	T473A	probably benign	Het
Prpf3	G	A	3: 95,743,801 (GRCm39)	Q451*	probably null	Het
Psma5-ps	T	A	10: 85,150,065 (GRCm39)		noncoding transcript	Het
Ptprh	T	A	7: 4,600,996 (GRCm39)	D127V	possibly damaging	Het
Rab36	T	C	10: 74,877,765 (GRCm39)		probably null	Het
Rgs11	T	C	17: 26,423,521 (GRCm39)		probably null	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Shank2	G	A	7: 143,974,342 (GRCm39)	V1087I	probably benign	Het
Slc39a10	A	C	1: 46,875,173 (GRCm39)	M43R	probably benign	Het
Slc40a1	T	A	1: 45,951,473 (GRCm39)	Q228L	probably benign	Het
Slc45a1	A	T	4: 150,722,996 (GRCm39)	L296Q	probably benign	Het
Stambpl1	A	G	19: 34,213,691 (GRCm39)	T307A	probably benign	Het
Stt3a	T	C	9: 36,644,225 (GRCm39)	T705A	possibly damaging	Het
Tec	G	A	5: 72,980,980 (GRCm39)		probably benign	Het
Trp63	A	T	16: 25,684,012 (GRCm39)	T300S	possibly damaging	Het
Vmn1r235	A	G	17: 21,482,623 (GRCm39)	H316R	probably benign	Het
Vmn2r1	A	G	3: 64,012,074 (GRCm39)	H645R	possibly damaging	Het
Wdfy4	A	G	14: 32,831,505 (GRCm39)	I907T	possibly damaging	Het
Zcchc10	A	G	11: 53,218,151 (GRCm39)	T33A	probably benign	Het
Zfp318	T	A	17: 46,710,560 (GRCm39)	V761D	probably damaging	Het
Zfp358	T	C	8: 3,546,146 (GRCm39)		probably null	Het
Zfp661	G	A	2: 127,419,468 (GRCm39)	P224L	probably damaging	Het
Zfp937	T	C	2: 150,078,706 (GRCm39)	M33T	probably damaging	Het
Zfp955a	T	C	17: 33,461,040 (GRCm39)	H364R	probably damaging	Het

Other mutations in Rasa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Rasa1	APN	13	85,436,548 (GRCm39)	missense	probably benign	0.02
IGL01396:Rasa1	APN	13	85,406,561 (GRCm39)	missense	probably benign	0.10
IGL01670:Rasa1	APN	13	85,373,609 (GRCm39)	missense	probably damaging	0.97
IGL02095:Rasa1	APN	13	85,364,274 (GRCm39)	missense	probably benign	0.10
IGL02822:Rasa1	APN	13	85,400,633 (GRCm39)	missense	probably damaging	0.97
IGL03126:Rasa1	APN	13	85,404,515 (GRCm39)	missense	possibly damaging	0.94
F5770:Rasa1	UTSW	13	85,375,064 (GRCm39)	splice site	probably null
PIT4458001:Rasa1	UTSW	13	85,375,237 (GRCm39)	missense	possibly damaging	0.91
R1393:Rasa1	UTSW	13	85,371,641 (GRCm39)	missense	probably damaging	1.00
R1441:Rasa1	UTSW	13	85,400,540 (GRCm39)	splice site	probably null
R1907:Rasa1	UTSW	13	85,374,691 (GRCm39)	nonsense	probably null
R4243:Rasa1	UTSW	13	85,392,314 (GRCm39)	missense	probably damaging	1.00
R4593:Rasa1	UTSW	13	85,386,340 (GRCm39)	splice site	probably null
R4687:Rasa1	UTSW	13	85,374,754 (GRCm39)	missense	possibly damaging	0.89
R4753:Rasa1	UTSW	13	85,436,509 (GRCm39)	splice site	probably null
R4758:Rasa1	UTSW	13	85,382,567 (GRCm39)	missense	probably benign
R4774:Rasa1	UTSW	13	85,398,621 (GRCm39)	intron	probably benign
R5363:Rasa1	UTSW	13	85,436,674 (GRCm39)	missense	possibly damaging	0.86
R5375:Rasa1	UTSW	13	85,437,022 (GRCm39)	intron	probably benign
R6134:Rasa1	UTSW	13	85,374,745 (GRCm39)	missense	probably benign	0.01
R6190:Rasa1	UTSW	13	85,381,814 (GRCm39)	missense	probably benign	0.02
R6755:Rasa1	UTSW	13	85,374,717 (GRCm39)	missense	possibly damaging	0.49
R7564:Rasa1	UTSW	13	85,376,827 (GRCm39)	missense	probably benign	0.09
R7862:Rasa1	UTSW	13	85,403,530 (GRCm39)	missense	probably damaging	0.99
R9138:Rasa1	UTSW	13	85,369,635 (GRCm39)	missense	possibly damaging	0.93
R9280:Rasa1	UTSW	13	85,436,732 (GRCm39)	missense	unknown
R9328:Rasa1	UTSW	13	85,403,575 (GRCm39)	critical splice acceptor site	probably null
R9340:Rasa1	UTSW	13	85,369,649 (GRCm39)	missense	probably damaging	0.98
R9648:Rasa1	UTSW	13	85,436,690 (GRCm39)	missense	possibly damaging	0.73
RF016:Rasa1	UTSW	13	85,371,607 (GRCm39)	missense	possibly damaging	0.65
X0023:Rasa1	UTSW	13	85,381,853 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGAAACCTACATTCATTCCAAG -3'
(R):5'- CAACCTGTGAACCTGTATTTGTAAC -3'

Sequencing Primer
(F):5'- TCAAAGAGTACCACCTTAAAGTTTC -3'
(R):5'- TGTGAACCTGTATTTGTAACATTCAG -3'

Posted On

2015-10-21