Mutagenetix > Incidental Mutation

Incidental Mutation 'R7751:Rasa3'

597234

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

045807-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7751 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13617218-13727590 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13618708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 830 (S830T)

Ref Sequence

ENSEMBL: ENSMUSP00000112998 (fasta)

Gene Model

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

AlphaFold

Q60790

Predicted Effect

probably benign
Transcript: ENSMUST00000117551
AA Change: S830T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: S830T

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

Meta Mutation Damage Score

0.0745

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (82/84)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,965,044 (GRCm39)	I769F	possibly damaging	Het
Ackr1	A	C	1: 173,159,779 (GRCm39)	W247G	probably damaging	Het
Adgrl4	G	A	3: 151,197,946 (GRCm39)	G69S	probably damaging	Het
Agrn	C	T	4: 156,260,886 (GRCm39)	S710N	probably damaging	Het
Aox3	A	G	1: 58,218,494 (GRCm39)	M1103V	probably benign	Het
Asb18	G	A	1: 89,896,206 (GRCm39)	A278V	probably benign	Het
B3gat2	A	G	1: 23,801,945 (GRCm39)	E77G	probably benign	Het
Camta1	T	C	4: 151,232,863 (GRCm39)		probably null	Het
Cbll1	A	T	12: 31,537,579 (GRCm39)	I392N	probably damaging	Het
Ccdc113	A	G	8: 96,264,829 (GRCm39)	D113G	possibly damaging	Het
Cd79a	T	C	7: 24,599,092 (GRCm39)	F148L	probably benign	Het
Chad	T	A	11: 94,455,999 (GRCm39)	C26S	probably damaging	Het
Cog4	T	C	8: 111,607,600 (GRCm39)	F696L	probably damaging	Het
Csf2rb	T	G	15: 78,225,839 (GRCm39)	S303R	probably damaging	Het
Cstpp1	A	T	2: 91,214,118 (GRCm39)	L79H	probably damaging	Het
Cubn	C	T	2: 13,365,176 (GRCm39)	G1621R	probably damaging	Het
Dennd4c	T	A	4: 86,747,179 (GRCm39)	N1454K	probably benign	Het
Dennd5b	T	C	6: 148,918,604 (GRCm39)	I853V	probably benign	Het
Dnaaf11	T	C	15: 66,321,412 (GRCm39)	E243G	probably benign	Het
Dop1a	A	T	9: 86,389,783 (GRCm39)	D561V	probably benign	Het
Dpysl4	A	G	7: 138,669,456 (GRCm39)	I45V	probably benign	Het
Ect2l	A	C	10: 18,045,153 (GRCm39)	S301A	possibly damaging	Het
Elf2	A	G	3: 51,165,035 (GRCm39)	V323A	probably damaging	Het
Epcam	C	T	17: 87,947,904 (GRCm39)	R125*	probably null	Het
Ephb4	T	C	5: 137,363,937 (GRCm39)	V612A	probably damaging	Het
Erich3	C	T	3: 154,469,426 (GRCm39)	R1293C	unknown	Het
F830045P16Rik	C	A	2: 129,302,367 (GRCm39)	L408F	probably damaging	Het
Gask1a	G	A	9: 121,793,887 (GRCm39)	V14I	probably benign	Het
Gm13102	T	C	4: 143,835,787 (GRCm39)	I485T	probably benign	Het
Gm16494	A	T	17: 47,327,800 (GRCm39)	L28*	probably null	Het
Grin2c	A	G	11: 115,144,696 (GRCm39)	V610A	probably damaging	Het
Hacd2	T	A	16: 34,922,434 (GRCm39)	Y208N	probably damaging	Het
Hlf	A	T	11: 90,278,821 (GRCm39)	F81Y	probably damaging	Het
Igfbp7	G	A	5: 77,499,134 (GRCm39)	A257V	probably damaging	Het
Il12a	A	T	3: 68,605,235 (GRCm39)	N167I	probably damaging	Het
Il1r2	G	A	1: 40,162,371 (GRCm39)	C338Y	probably damaging	Het
Irf2bpl	G	T	12: 86,930,489 (GRCm39)	H61Q	probably damaging	Het
Kansl1	A	G	11: 104,314,890 (GRCm39)	F383L	probably benign	Het
Kcnh8	A	G	17: 53,268,871 (GRCm39)	T863A	probably damaging	Het
Klhl36	C	A	8: 120,596,397 (GRCm39)	Q33K	probably benign	Het
Lrig2	A	T	3: 104,401,985 (GRCm39)	Y113*	probably null	Het
Lrrc36	T	A	8: 106,178,667 (GRCm39)	S287R	possibly damaging	Het
Mr1	A	T	1: 155,005,054 (GRCm39)	Y329N	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nectin4	G	A	1: 171,211,326 (GRCm39)		probably null	Het
Nsrp1	A	G	11: 76,940,097 (GRCm39)		probably null	Het
Or1e21	A	T	11: 73,344,372 (GRCm39)	I222N	possibly damaging	Het
Or9g3	A	G	2: 85,583,836 (GRCm39)	T44A	probably benign	Het
Pcdh8	A	T	14: 80,008,143 (GRCm39)	I140N	probably damaging	Het
Pdzd8	A	G	19: 59,333,208 (GRCm39)	V271A	probably damaging	Het
Pex3	T	A	10: 13,403,550 (GRCm39)	I324L	possibly damaging	Het
Pira12	T	A	7: 3,898,603 (GRCm39)	I282F	probably damaging	Het
Pitpnm1	T	A	19: 4,153,470 (GRCm39)	F209I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,271,149 (GRCm39)	T3135S	probably damaging	Het
Pramel32	T	C	4: 88,547,356 (GRCm39)	D192G	probably benign	Het
Prdm16	T	C	4: 154,412,756 (GRCm39)	N1082S	probably damaging	Het
Psmd12	A	T	11: 107,370,439 (GRCm39)	I13F	possibly damaging	Het
Ptgs2	A	T	1: 149,980,258 (GRCm39)	I399F	probably benign	Het
Rasgef1c	A	T	11: 49,861,120 (GRCm39)	R362W	probably damaging	Het
Resf1	A	G	6: 149,226,936 (GRCm39)		probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnf217	C	A	10: 31,393,415 (GRCm39)	G389W	probably damaging	Het
Sec16b	A	T	1: 157,385,630 (GRCm39)	D675V	probably damaging	Het
Serpinb12	A	G	1: 106,877,401 (GRCm39)	Y137C	probably damaging	Het
Slc2a5	T	A	4: 150,227,591 (GRCm39)	I470N	probably damaging	Het
Slc5a1	T	C	5: 33,290,761 (GRCm39)	I115T	possibly damaging	Het
Slco1a4	A	T	6: 141,780,413 (GRCm39)	S126T	possibly damaging	Het
St6galnac2	T	C	11: 116,568,410 (GRCm39)	D351G	probably damaging	Het
Stat4	G	A	1: 52,121,711 (GRCm39)	V357M	possibly damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tdrd9	T	A	12: 111,958,982 (GRCm39)	C139S	probably benign	Het
Tmed9	G	A	13: 55,741,054 (GRCm39)	R23Q	not run	Het
Tmem150a	A	C	6: 72,336,028 (GRCm39)	H205P	probably damaging	Het
Tns2	C	A	15: 102,018,163 (GRCm39)	L350I	probably benign	Het
Tpr	A	G	1: 150,295,646 (GRCm39)	T964A	probably benign	Het
Traf3ip1	G	T	1: 91,422,479 (GRCm39)		probably benign	Het
Trem2	G	T	17: 48,653,567 (GRCm39)		probably benign	Het
Ttc14	G	A	3: 33,863,590 (GRCm39)	G666D	unknown	Het
Ulk1	T	C	5: 110,957,078 (GRCm39)	D40G	probably damaging	Het
Vmn1r30	A	G	6: 58,412,397 (GRCm39)	V145A	probably benign	Het
Vmn1r79	C	T	7: 11,910,762 (GRCm39)	Q215*	probably null	Het
Wnk2	G	A	13: 49,231,493 (GRCm39)	T16I	unknown	Het
Yme1l1	T	C	2: 23,077,856 (GRCm39)		probably null	Het
Zbtb16	T	A	9: 48,654,769 (GRCm39)	H454L	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	Het
Zrsr2-ps1	A	G	11: 22,923,595 (GRCm39)	Q123R	possibly 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
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
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'- AGAGCATGCTTGACTCGTGG -3'
(R):5'- CAGTGAGTGCTTCCTTGGAG -3'

Sequencing Primer
(F):5'- TTGACTCGTGGTGGCCC -3'
(R):5'- TCCTTGGAGTTGGCGCTCAC -3'

Posted On

2019-11-26