Mutagenetix > Incidental Mutation

Incidental Mutation 'R9328:Rasa1'

706677

Institutional Source

Beutler Lab

Gene Symbol

Rasa1

Ensembl Gene

ENSMUSG00000021549

Gene Name

RAS p21 protein activator 1

Synonyms

Gap, p120-rasGAP

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85362899-85437249 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 85403575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105179 (fasta)

Gene Model

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

AlphaFold

E9PYG6

Predicted Effect

probably null
Transcript: ENSMUST00000109552

SMART Domains

Protein: ENSMUSP00000105179
Gene: ENSMUSG00000021549

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

probably benign
Transcript: ENSMUST00000223598

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	A	G	7: 37,894,272 (GRCm39)	T102A	probably benign	Het
1700109H08Rik	A	G	5: 3,632,161 (GRCm39)	K164E	possibly damaging	Het
2610042L04Rik	C	T	14: 4,350,013 (GRCm38)	Q74*	probably null	Het
Aadacl4fm4	T	A	4: 144,401,256 (GRCm39)	H76L	probably benign	Het
Adgrb2	T	A	4: 129,915,363 (GRCm39)	M1381K	probably damaging	Het
Adgrv1	C	A	13: 81,620,523 (GRCm39)	D3975Y	probably damaging	Het
Ano10	C	T	9: 122,090,168 (GRCm39)	E382K	possibly damaging	Het
Ascc3	T	C	10: 50,535,015 (GRCm39)	V636A	probably damaging	Het
AU040320	T	C	4: 126,729,332 (GRCm39)	V498A	possibly damaging	Het
Bahcc1	C	T	11: 120,165,885 (GRCm39)	T1047I	possibly damaging	Het
BC004004	A	T	17: 29,501,682 (GRCm39)	T74S	possibly damaging	Het
Bend3	A	G	10: 43,387,419 (GRCm39)	D604G	possibly damaging	Het
Brinp3	T	A	1: 146,707,455 (GRCm39)	V373E	probably damaging	Het
Bsph2	A	T	7: 13,290,764 (GRCm39)	D38E	probably benign	Het
Castor1	T	C	11: 4,170,423 (GRCm39)	F140L	probably benign	Het
Catsperd	A	G	17: 56,965,074 (GRCm39)	I474V	possibly damaging	Het
Ccdc180	A	G	4: 45,902,447 (GRCm39)	N292S	possibly damaging	Het
Cd1d1	A	T	3: 86,905,459 (GRCm39)	V178E	possibly damaging	Het
Cdca2	T	A	14: 67,931,131 (GRCm39)	R521W	probably damaging	Het
Champ1	A	G	8: 13,929,392 (GRCm39)	K517E	probably damaging	Het
Chrna9	T	C	5: 66,128,569 (GRCm39)	F259S	probably damaging	Het
Chuk	A	T	19: 44,085,422 (GRCm39)	C241*	probably null	Het
Clns1a	A	G	7: 97,363,240 (GRCm39)	Y204C	probably benign	Het
Cplane1	A	G	15: 8,215,692 (GRCm39)	D416G	probably damaging	Het
Cyp2j7	A	T	4: 96,115,869 (GRCm39)	N192K	probably damaging	Het
Ddr2	A	G	1: 169,829,504 (GRCm39)	V250A	probably benign	Het
Dlgap2	A	G	8: 14,777,441 (GRCm39)	S229G	probably damaging	Het
Dmrt1	A	T	19: 25,523,231 (GRCm39)	H194L	probably damaging	Het
Dock7	A	T	4: 98,968,064 (GRCm39)	F138I		Het
Dsg2	T	C	18: 20,715,847 (GRCm39)	V263A	possibly damaging	Het
Dusp16	A	G	6: 134,716,902 (GRCm39)	L135P	probably damaging	Het
Dysf	A	G	6: 84,050,895 (GRCm39)	N414S	probably damaging	Het
Efhc1	A	G	1: 21,030,598 (GRCm39)	Y177C	probably damaging	Het
Fam83e	A	T	7: 45,372,912 (GRCm39)	R174S	probably benign	Het
Fgf4	C	T	7: 144,416,664 (GRCm39)	L199F	probably damaging	Het
Fignl2	A	G	15: 100,951,271 (GRCm39)	L337P	unknown	Het
Gm4353	T	C	7: 115,682,724 (GRCm39)	R286G	probably damaging	Het
Gm5142	T	C	14: 59,416,126 (GRCm39)	S11G	probably benign	Het
Gpr151	A	G	18: 42,712,270 (GRCm39)	V136A	probably damaging	Het
Ift80	T	A	3: 68,847,483 (GRCm39)	I338F	probably damaging	Het
Itgb4	A	G	11: 115,880,625 (GRCm39)	S693G	probably benign	Het
Kif13a	T	A	13: 46,951,838 (GRCm39)	I812F	probably damaging	Het
Krit1	T	C	5: 3,862,577 (GRCm39)		probably null	Het
Mapk6	T	C	9: 75,305,252 (GRCm39)	D55G	possibly damaging	Het
Matn3	A	G	12: 9,002,033 (GRCm39)	I82V	possibly damaging	Het
Mecom	T	A	3: 30,063,994 (GRCm39)	D32V	unknown	Het
Nacad	T	C	11: 6,552,417 (GRCm39)	H258R	possibly damaging	Het
Ndufaf5	T	A	2: 140,030,752 (GRCm39)	S213T	possibly damaging	Het
Nphp1	C	T	2: 127,582,892 (GRCm39)	D674N	possibly damaging	Het
Nsmaf	A	G	4: 6,426,412 (GRCm39)	L250P	probably damaging	Het
Ogdh	T	C	11: 6,297,838 (GRCm39)	S571P	probably benign	Het
Or1e31	T	C	11: 73,690,478 (GRCm39)	Y35C	probably damaging	Het
Or51i2	T	A	7: 103,689,268 (GRCm39)	D88E		Het
Or8g27	T	C	9: 39,129,175 (GRCm39)	I174T	probably damaging	Het
Osbpl11	A	G	16: 33,047,245 (GRCm39)	I403V	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pira13	T	A	7: 3,827,580 (GRCm39)	R192S	unknown	Het
Plat	A	G	8: 23,268,133 (GRCm39)	R300G	probably damaging	Het
Ppid	T	C	3: 79,505,059 (GRCm39)	I134T	probably damaging	Het
Rad51ap2	A	G	12: 11,507,772 (GRCm39)	I565V	probably benign	Het
Sema4a	C	T	3: 88,345,613 (GRCm39)	W490*	probably null	Het
Septin3	A	G	15: 82,173,439 (GRCm39)	Y257C	probably damaging	Het
Sh3rf2	C	A	18: 42,274,161 (GRCm39)	F442L	probably benign	Het
Sipa1l1	A	G	12: 82,388,792 (GRCm39)	I339M	possibly damaging	Het
Six2	T	C	17: 85,995,196 (GRCm39)	N62S	possibly damaging	Het
Slc44a5	T	C	3: 153,964,678 (GRCm39)	I526T	probably benign	Het
Smarca5	T	C	8: 81,447,378 (GRCm39)	S402G	probably benign	Het
Son	T	A	16: 91,452,645 (GRCm39)	V464E	possibly damaging	Het
Sorcs3	A	G	19: 48,785,950 (GRCm39)	K1144E	probably damaging	Het
Stxbp6	A	G	12: 44,902,659 (GRCm39)	L204P	probably damaging	Het
Tchh	A	G	3: 93,351,570 (GRCm39)	R337G	unknown	Het
Tgm4	T	C	9: 122,885,697 (GRCm39)	V413A	possibly damaging	Het
Tmem131	G	A	1: 36,858,236 (GRCm39)	Q704*	probably null	Het
Tmpo	T	C	10: 90,998,825 (GRCm39)	K321E	probably damaging	Het
Trim75	G	T	8: 65,435,315 (GRCm39)	N378K	probably benign	Het
Tspan18	T	A	2: 93,036,065 (GRCm39)	I227F	probably benign	Het
Ttn	C	T	2: 76,541,526 (GRCm39)	W33820*	probably null	Het
Urb2	T	A	8: 124,774,034 (GRCm39)	Y1522N	probably damaging	Het
Zbtb40	T	C	4: 136,745,620 (GRCm39)	N138D	probably benign	Het
Zfp715	A	T	7: 42,947,328 (GRCm39)	H877Q	possibly 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
R4689:Rasa1	UTSW	13	85,386,282 (GRCm39)	nonsense	probably null
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
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'- TCCCATGGGAAAATAACAGATCGAG -3'
(R):5'- AGGCTTGCATGTGTGTCAAG -3'

Sequencing Primer
(F):5'- GCAATGAATCTTCATTGTCTAC -3'
(R):5'- CACGTGCAAACTTATTACTGGTGG -3'

Posted On

2022-04-18