Mutagenetix > Incidental Mutation

Incidental Mutation 'R7564:Rasa1'

585328

Institutional Source

Beutler Lab

Gene Symbol

Rasa1

Ensembl Gene

ENSMUSG00000021549

Gene Name

RAS p21 protein activator 1

Synonyms

p120-rasGAP, Gap

MMRRC Submission

045656-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7564 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85214780-85289130 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85228708 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 603 (T603A)

Ref Sequence

ENSEMBL: ENSMUSP00000105179 (fasta)

Gene Model

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

AlphaFold

E9PYG6

Predicted Effect

probably benign
Transcript: ENSMUST00000109552
AA Change: T603A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105179
Gene: ENSMUSG00000021549
AA Change: T603A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (56/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	G	A	9: 104,123,089 (GRCm38)	E681K	possibly damaging	Het
Accsl	A	T	2: 93,858,156 (GRCm38)	M411K	possibly damaging	Het
Amn1	C	T	6: 149,185,031 (GRCm38)	M44I	probably benign	Het
Bag4	G	A	8: 25,777,479 (GRCm38)	R108*	probably null	Het
BC037034	C	A	5: 138,262,842 (GRCm38)		probably null	Het
C130060K24Rik	G	T	6: 65,452,907 (GRCm38)	E196*	probably null	Het
C87977	C	A	4: 144,212,955 (GRCm38)	C4F	probably damaging	Het
Cpa1	C	T	6: 30,641,768 (GRCm38)	T197M	probably damaging	Het
Cyb561d2	A	G	9: 107,541,019 (GRCm38)	V50A	probably benign	Het
Dact1	A	G	12: 71,318,551 (GRCm38)	D665G	probably damaging	Het
Dcaf4	G	A	12: 83,541,523 (GRCm38)	V499I	probably damaging	Het
Depdc5	T	G	5: 32,901,510 (GRCm38)	I274M	probably damaging	Het
Dnah3	T	A	7: 119,971,594 (GRCm38)	Q2219L	probably benign	Het
Ect2	A	T	3: 27,116,123 (GRCm38)		probably benign	Het
Efcab14	C	A	4: 115,759,962 (GRCm38)	S289R	probably benign	Het
Fmn2	T	C	1: 174,609,574 (GRCm38)	L1037P	unknown	Het
Fsip2	G	A	2: 82,989,017 (GRCm38)	M5031I	probably benign	Het
Gm19410	A	G	8: 35,806,997 (GRCm38)	M1435V	probably benign	Het
Gm8005	G	T	14: 42,439,542 (GRCm38)	Q44K		Het
Hdgfl2	T	A	17: 56,099,860 (GRCm38)	D591E	unknown	Het
Hk3	C	A	13: 55,011,396 (GRCm38)	C449F	probably damaging	Het
Hmcn1	T	C	1: 150,655,835 (GRCm38)	M3228V	probably benign	Het
Kifap3	C	T	1: 163,915,768 (GRCm38)	R773C	probably damaging	Het
Kndc1	T	C	7: 139,920,696 (GRCm38)	V659A	probably benign	Het
Lhb	C	T	7: 45,421,677 (GRCm38)	R109C	probably damaging	Het
Lnpep	A	G	17: 17,578,592 (GRCm38)	I267T	probably benign	Het
Lypla1	T	A	1: 4,808,367 (GRCm38)		probably null	Het
Map3k21	T	C	8: 125,927,708 (GRCm38)		probably null	Het
Mapkbp1	A	G	2: 120,013,751 (GRCm38)	T319A	probably benign	Het
Mms19	T	C	19: 41,947,016 (GRCm38)	T854A	probably benign	Het
Mphosph8	A	G	14: 56,674,038 (GRCm38)	T173A	probably benign	Het
Mtcl1	C	T	17: 66,371,327 (GRCm38)	R668H	probably benign	Het
Myo5b	G	A	18: 74,634,511 (GRCm38)	E297K	possibly damaging	Het
Nrg2	A	T	18: 36,024,396 (GRCm38)	L412Q	probably damaging	Het
Nrtn	T	C	17: 56,751,473 (GRCm38)	D176G	probably damaging	Het
Nrxn1	G	T	17: 90,362,906 (GRCm38)	Q1134K	possibly damaging	Het
Olfr574	C	T	7: 102,949,266 (GRCm38)	P267L	probably damaging	Het
Oog4	CAA	CA	4: 143,437,452 (GRCm38)		probably null	Het
Pick1	T	C	15: 79,255,581 (GRCm38)	V360A	unknown	Het
Pigr	T	A	1: 130,841,666 (GRCm38)	N71K	possibly damaging	Het
Ppox	T	C	1: 171,280,191 (GRCm38)	N96S	probably benign	Het
Rhd	T	C	4: 134,876,459 (GRCm38)	L97P	probably damaging	Het
Sec61a2	T	C	2: 5,882,604 (GRCm38)	I147V	probably benign	Het
Sh3bp1	C	T	15: 78,911,560 (GRCm38)	P630S	probably damaging	Het
Sh3d21	T	C	4: 126,151,144 (GRCm38)	T581A	probably benign	Het
Slc36a2	A	G	11: 55,162,672 (GRCm38)	I380T	probably benign	Het
Slc36a4	T	A	9: 15,726,812 (GRCm38)	V178D	probably damaging	Het
Smad7	C	A	18: 75,393,835 (GRCm38)	L251I	probably benign	Het
Sspo	G	A	6: 48,449,500 (GRCm38)	S151N	probably benign	Het
St3gal4	C	T	9: 35,052,253 (GRCm38)	R253Q	probably benign	Het
Ttbk1	T	C	17: 46,476,931 (GRCm38)	I242V	possibly damaging	Het
Ttn	G	A	2: 76,968,520 (GRCm38)	A470V	unknown	Het
Unc13b	T	C	4: 43,091,258 (GRCm38)	V28A	probably damaging	Het
Vmn1r149	A	G	7: 22,438,105 (GRCm38)	V42A	possibly damaging	Het
Zbtb21	A	T	16: 97,951,540 (GRCm38)	C514*	probably null	Het
Zfp236	A	T	18: 82,644,241 (GRCm38)	C570*	probably null	Het
Zfp277	T	A	12: 40,329,595 (GRCm38)	R313S	probably damaging	Het
Zfp329	A	T	7: 12,811,040 (GRCm38)	C186S	probably damaging	Het
Zscan4-ps2	A	G	7: 11,515,027 (GRCm38)		probably benign	Het

Other mutations in Rasa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Rasa1	APN	13	85,288,429 (GRCm38)	missense	probably benign	0.02
IGL01396:Rasa1	APN	13	85,258,442 (GRCm38)	missense	probably benign	0.10
IGL01670:Rasa1	APN	13	85,225,490 (GRCm38)	missense	probably damaging	0.97
IGL02095:Rasa1	APN	13	85,216,155 (GRCm38)	missense	probably benign	0.10
IGL02822:Rasa1	APN	13	85,252,514 (GRCm38)	missense	probably damaging	0.97
IGL03126:Rasa1	APN	13	85,256,396 (GRCm38)	missense	possibly damaging	0.94
F5770:Rasa1	UTSW	13	85,226,945 (GRCm38)	splice site	probably null
PIT4458001:Rasa1	UTSW	13	85,227,118 (GRCm38)	missense	possibly damaging	0.91
R1393:Rasa1	UTSW	13	85,223,522 (GRCm38)	missense	probably damaging	1.00
R1441:Rasa1	UTSW	13	85,252,421 (GRCm38)	splice site	probably null
R1907:Rasa1	UTSW	13	85,226,572 (GRCm38)	nonsense	probably null
R4243:Rasa1	UTSW	13	85,244,195 (GRCm38)	missense	probably damaging	1.00
R4593:Rasa1	UTSW	13	85,238,221 (GRCm38)	splice site	probably null
R4687:Rasa1	UTSW	13	85,226,635 (GRCm38)	missense	possibly damaging	0.89
R4689:Rasa1	UTSW	13	85,238,163 (GRCm38)	nonsense	probably null
R4753:Rasa1	UTSW	13	85,288,390 (GRCm38)	splice site	probably null
R4758:Rasa1	UTSW	13	85,234,448 (GRCm38)	missense	probably benign
R4774:Rasa1	UTSW	13	85,250,502 (GRCm38)	intron	probably benign
R5363:Rasa1	UTSW	13	85,288,555 (GRCm38)	missense	possibly damaging	0.86
R5375:Rasa1	UTSW	13	85,288,903 (GRCm38)	intron	probably benign
R6134:Rasa1	UTSW	13	85,226,626 (GRCm38)	missense	probably benign	0.01
R6190:Rasa1	UTSW	13	85,233,695 (GRCm38)	missense	probably benign	0.02
R6755:Rasa1	UTSW	13	85,226,598 (GRCm38)	missense	possibly damaging	0.49
R7862:Rasa1	UTSW	13	85,255,411 (GRCm38)	missense	probably damaging	0.99
R9138:Rasa1	UTSW	13	85,221,516 (GRCm38)	missense	possibly damaging	0.93
R9280:Rasa1	UTSW	13	85,288,613 (GRCm38)	missense	unknown
R9328:Rasa1	UTSW	13	85,255,456 (GRCm38)	critical splice acceptor site	probably null
R9340:Rasa1	UTSW	13	85,221,530 (GRCm38)	missense	probably damaging	0.98
R9648:Rasa1	UTSW	13	85,288,571 (GRCm38)	missense	possibly damaging	0.73
RF016:Rasa1	UTSW	13	85,223,488 (GRCm38)	missense	possibly damaging	0.65
X0023:Rasa1	UTSW	13	85,233,734 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGATGTCAGGAGGAAGATCAC -3'
(R):5'- GATGATGGTAGTTGATTAGCAAAGC -3'

Sequencing Primer
(F):5'- GTTCAGTGTGTTAGATTTAAAACAGG -3'
(R):5'- TCTTTAGGTCAGCAGCCT -3'

Posted On

2019-10-17