Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00423:Rasa3'

5065

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rasa3

Ensembl Gene

ENSMUSG00000031453

Gene Name

RAS p21 protein activator 3

Synonyms

GAPIII activator 3, Ras GTPase-activating protein III, scat, hlb381, GAPIII, R-Ras gap

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00423

Quality Score

Status

Chromosome

Chromosomal Location

13617218-13727590 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 13645410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117551] [ENSMUST00000154454]

AlphaFold

Q60790

Predicted Effect

probably benign
Transcript: ENSMUST00000117551

SMART Domains

Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453

Domain	Start	End	E-Value	Type
C2	13	111	2.29e-15	SMART
C2	146	262	1.03e-17	SMART
RasGAP	275	614	3.96e-166	SMART
PH	577	679	5.53e-16	SMART
BTK	679	715	9.16e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132637

Predicted Effect

probably benign
Transcript: ENSMUST00000154454

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation die at E12.5-13.5 of massive subcutaneous and intraparenchymal hemorrhage, probably due to underdeveloped adherens junctions between capillary endothelial cells. At E12.5, edema and severe hemorrhaging is frequently observed in the brain and/or rump. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,747,572 (GRCm39)	E781G	probably benign	Het
Acp7	T	C	7: 28,314,122 (GRCm39)	T358A	possibly damaging	Het
Adamtsl2	C	A	2: 26,975,100 (GRCm39)	T199K	probably damaging	Het
Ap4e1	T	A	2: 126,870,209 (GRCm39)	S179T	probably damaging	Het
BC048671	A	G	6: 90,280,200 (GRCm39)	T39A	probably benign	Het
Cfap20dc	G	A	14: 8,473,370 (GRCm38)	P600S	possibly damaging	Het
Cnr1	G	A	4: 33,944,116 (GRCm39)	S168N	probably damaging	Het
Cp	T	C	3: 20,039,826 (GRCm39)	V881A	possibly damaging	Het
Cyp4x1	T	C	4: 114,979,145 (GRCm39)	T151A	probably benign	Het
Drd2	T	C	9: 49,307,058 (GRCm39)	I48T	probably damaging	Het
Gemin5	A	T	11: 58,054,643 (GRCm39)	I253N	probably damaging	Het
Herc3	T	A	6: 58,845,700 (GRCm39)	I407K	probably damaging	Het
Ighmbp2	G	T	19: 3,318,704 (GRCm39)	H457Q	probably benign	Het
Mboat1	A	G	13: 30,379,776 (GRCm39)		probably benign	Het
Myh2	T	C	11: 67,088,171 (GRCm39)	V1929A	probably benign	Het
Nucb2	T	A	7: 116,121,066 (GRCm39)		probably benign	Het
Pcsk5	T	C	19: 17,619,923 (GRCm39)	N383S	probably benign	Het
Pde1a	A	G	2: 79,696,014 (GRCm39)	L443P	probably damaging	Het
Prph2	A	T	17: 47,230,704 (GRCm39)	N199I	probably damaging	Het
Rab27b	A	G	18: 70,129,138 (GRCm39)		probably null	Het
Ranbp3	G	A	17: 57,016,238 (GRCm39)	D336N	probably damaging	Het
Rangap1	T	C	15: 81,606,194 (GRCm39)	D49G	probably benign	Het
Serpina6	T	A	12: 103,618,162 (GRCm39)	N217I	probably damaging	Het
Sorbs2	A	G	8: 46,252,743 (GRCm39)		probably null	Het
Spire1	A	G	18: 67,662,085 (GRCm39)	V116A	probably damaging	Het
Tdrd1	T	C	19: 56,839,896 (GRCm39)	V652A	possibly damaging	Het
Tmprss11g	T	C	5: 86,640,050 (GRCm39)	E193G	probably benign	Het
Zfp451	A	T	1: 33,816,660 (GRCm39)	V213D	probably benign	Het

Other mutations in Rasa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02112:Rasa3	APN	8	13,635,042 (GRCm39)	splice site	probably benign
IGL02946:Rasa3	APN	8	13,648,280 (GRCm39)	missense	probably benign	0.33
IGL03085:Rasa3	APN	8	13,635,690 (GRCm39)	missense	probably benign	0.11
Box_canyon	UTSW	8	13,634,959 (GRCm39)	nonsense	probably null
Erasor	UTSW	8	13,636,873 (GRCm39)	critical splice donor site	probably null
koko_head	UTSW	8	13,664,605 (GRCm39)	missense	possibly damaging	0.70
Mount_ouray	UTSW	8	13,681,811 (GRCm39)	missense	possibly damaging	0.90
Poncha_pass	UTSW	8	13,645,373 (GRCm39)	missense	possibly damaging	0.46
Tabula	UTSW	8	13,635,029 (GRCm39)	missense	probably damaging	1.00
Ute	UTSW	8	13,632,381 (GRCm39)	splice site	probably benign
PIT4531001:Rasa3	UTSW	8	13,655,887 (GRCm39)	missense	probably benign	0.11
R0193:Rasa3	UTSW	8	13,620,233 (GRCm39)	splice site	probably null
R0710:Rasa3	UTSW	8	13,633,830 (GRCm39)	missense	probably damaging	1.00
R0726:Rasa3	UTSW	8	13,630,118 (GRCm39)	splice site	probably benign
R1405:Rasa3	UTSW	8	13,638,027 (GRCm39)	missense	possibly damaging	0.83
R1405:Rasa3	UTSW	8	13,638,027 (GRCm39)	missense	possibly damaging	0.83
R1797:Rasa3	UTSW	8	13,632,372 (GRCm39)	missense	probably benign	0.44
R1828:Rasa3	UTSW	8	13,635,035 (GRCm39)	missense	probably benign	0.02
R1895:Rasa3	UTSW	8	13,681,768 (GRCm39)	splice site	probably benign
R2090:Rasa3	UTSW	8	13,632,381 (GRCm39)	splice site	probably benign
R2374:Rasa3	UTSW	8	13,627,411 (GRCm39)	missense	probably damaging	1.00
R2655:Rasa3	UTSW	8	13,645,373 (GRCm39)	missense	possibly damaging	0.46
R3703:Rasa3	UTSW	8	13,638,972 (GRCm39)	missense	probably benign
R3899:Rasa3	UTSW	8	13,628,635 (GRCm39)	missense	probably benign	0.21
R4230:Rasa3	UTSW	8	13,620,264 (GRCm39)	missense	possibly damaging	0.47
R4256:Rasa3	UTSW	8	13,664,532 (GRCm39)	critical splice donor site	probably null
R4281:Rasa3	UTSW	8	13,638,946 (GRCm39)	missense	probably benign	0.01
R4498:Rasa3	UTSW	8	13,664,587 (GRCm39)	missense	probably benign	0.01
R4558:Rasa3	UTSW	8	13,648,259 (GRCm39)	missense	probably damaging	0.96
R4559:Rasa3	UTSW	8	13,648,259 (GRCm39)	missense	probably damaging	0.96
R4647:Rasa3	UTSW	8	13,638,865 (GRCm39)	missense	probably null	0.00
R4702:Rasa3	UTSW	8	13,620,394 (GRCm39)	missense	probably benign	0.09
R4772:Rasa3	UTSW	8	13,648,289 (GRCm39)	missense	probably damaging	1.00
R4774:Rasa3	UTSW	8	13,627,501 (GRCm39)	missense	probably benign	0.07
R4807:Rasa3	UTSW	8	13,664,633 (GRCm39)	missense	probably damaging	1.00
R5008:Rasa3	UTSW	8	13,634,959 (GRCm39)	nonsense	probably null
R5043:Rasa3	UTSW	8	13,620,368 (GRCm39)	missense	possibly damaging	0.59
R5352:Rasa3	UTSW	8	13,681,778 (GRCm39)	missense	possibly damaging	0.88
R5435:Rasa3	UTSW	8	13,681,811 (GRCm39)	missense	possibly damaging	0.90
R6207:Rasa3	UTSW	8	13,648,251 (GRCm39)	missense	possibly damaging	0.67
R6733:Rasa3	UTSW	8	13,630,037 (GRCm39)	missense	possibly damaging	0.88
R6855:Rasa3	UTSW	8	13,635,029 (GRCm39)	missense	probably damaging	1.00
R7024:Rasa3	UTSW	8	13,681,826 (GRCm39)	missense	probably benign	0.29
R7100:Rasa3	UTSW	8	13,636,897 (GRCm39)	missense	probably benign	0.02
R7322:Rasa3	UTSW	8	13,645,857 (GRCm39)	missense	possibly damaging	0.46
R7394:Rasa3	UTSW	8	13,645,353 (GRCm39)	missense	probably benign	0.03
R7478:Rasa3	UTSW	8	13,664,605 (GRCm39)	missense	possibly damaging	0.70
R7486:Rasa3	UTSW	8	13,640,201 (GRCm39)	critical splice donor site	probably null
R7554:Rasa3	UTSW	8	13,645,390 (GRCm39)	missense	probably damaging	0.99
R7575:Rasa3	UTSW	8	13,645,887 (GRCm39)	missense	possibly damaging	0.73
R7641:Rasa3	UTSW	8	13,634,961 (GRCm39)	missense	probably benign	0.11
R7667:Rasa3	UTSW	8	13,638,015 (GRCm39)	missense	probably benign	0.27
R7751:Rasa3	UTSW	8	13,618,708 (GRCm39)	missense	probably benign	0.18
R7999:Rasa3	UTSW	8	13,681,805 (GRCm39)	missense	probably benign	0.04
R8039:Rasa3	UTSW	8	13,638,931 (GRCm39)	missense	probably damaging	1.00
R8125:Rasa3	UTSW	8	13,627,801 (GRCm39)	splice site	probably null
R8514:Rasa3	UTSW	8	13,631,322 (GRCm39)	missense	probably benign	0.02
R8726:Rasa3	UTSW	8	13,626,381 (GRCm39)	missense	probably benign	0.00
R8728:Rasa3	UTSW	8	13,636,873 (GRCm39)	critical splice donor site	probably null
R8790:Rasa3	UTSW	8	13,727,391 (GRCm39)	critical splice donor site	probably null
R9036:Rasa3	UTSW	8	13,645,851 (GRCm39)	missense	probably benign	0.06
R9483:Rasa3	UTSW	8	13,630,033 (GRCm39)	critical splice donor site	probably null
R9602:Rasa3	UTSW	8	13,681,844 (GRCm39)	missense	probably benign	0.01

Posted On

2012-04-20