Mutagenetix > Incidental Mutation

Incidental Mutation 'R0710:Rasa3'

62701

Institutional Source

Beutler Lab

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

MMRRC Submission

038893-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0710 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

13617218-13727590 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 13633830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 478 (V478L)

Ref Sequence

ENSEMBL: ENSMUSP00000112998 (fasta)

Gene Model

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

AlphaFold

Q60790

Predicted Effect

probably damaging
Transcript: ENSMUST00000117551
AA Change: V478L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: V478L

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: ENSMUST00000137822

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 94.8%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Celsr2	A	G	3: 108,320,028 (GRCm39)	V928A	probably benign	Het
Farp1	C	T	14: 121,474,555 (GRCm39)	T256M	probably damaging	Het
Fbxl3	G	T	14: 103,326,751 (GRCm39)	H162Q	probably damaging	Het
Glra3	C	T	8: 56,578,399 (GRCm39)		probably benign	Het
Gpatch8	A	G	11: 102,372,759 (GRCm39)	S260P	unknown	Het
Hectd4	G	A	5: 121,474,691 (GRCm39)	V2771I	probably benign	Het
Hgf	C	A	5: 16,771,761 (GRCm39)	C129*	probably null	Het
Hmg20a	G	A	9: 56,381,954 (GRCm39)	D77N	possibly damaging	Het
Iqch	A	T	9: 63,432,418 (GRCm39)	S287T	probably benign	Het
Kcnj11	T	C	7: 45,748,549 (GRCm39)	Y258C	probably benign	Het
Kif1c	A	G	11: 70,617,323 (GRCm39)	T874A	probably benign	Het
Mlc1	G	T	15: 88,862,067 (GRCm39)	Q50K	possibly damaging	Het
Mtor	T	C	4: 148,548,848 (GRCm39)	S544P	possibly damaging	Het
Mypop	A	T	7: 18,734,485 (GRCm39)		probably null	Het
Poli	A	T	18: 70,655,961 (GRCm39)		probably null	Het
Scn3a	A	T	2: 65,299,390 (GRCm39)	M1372K	probably damaging	Het
Sinhcaf	A	G	6: 148,834,498 (GRCm39)		probably null	Het
Sis	T	C	3: 72,859,864 (GRCm39)	Q297R	probably damaging	Het
Tnpo3	T	C	6: 29,586,074 (GRCm39)	D172G	possibly damaging	Het
Tulp2	T	A	7: 45,170,232 (GRCm39)	V301D	possibly damaging	Het
Ubr2	G	A	17: 47,249,607 (GRCm39)	R1582W	probably damaging	Het
Ubr3	T	C	2: 69,783,181 (GRCm39)	S706P	probably damaging	Het
Vmn1r171	C	A	7: 23,332,426 (GRCm39)	S205Y	probably damaging	Het
Wnk4	G	A	11: 101,164,932 (GRCm39)	A754T	probably benign	Het
Zfp282	C	T	6: 47,857,318 (GRCm39)	R184W	probably damaging	Het

Other mutations in Rasa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Rasa3	APN	8	13,645,410 (GRCm39)	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCCATCAGAGTGAAGCCCAGCC -3'
(R):5'- AGACCACCCAGCAGTGATCTTCAG -3'

Sequencing Primer
(F):5'- TCACAGAAGCATAGCTGCTGAG -3'
(R):5'- agagatagacaaagatacagagacag -3'

Posted On

2013-07-30