Mutagenetix > Incidental Mutations

Incidental Mutation 'RF016:Rasa1'

603576

Institutional Source

Beutler Lab

Gene Symbol

Rasa1

Ensembl Gene

ENSMUSG00000021549

Gene Name

RAS p21 protein activator 1

Synonyms

p120-rasGAP, Gap

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

RF016 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85214780-85289130 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85223488 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 878 (T878I)

Ref Sequence

ENSEMBL: ENSMUSP00000105179 (fasta)

Gene Model

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

AlphaFold

E9PYG6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109552
AA Change: T878I

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105179
Gene: ENSMUSG00000021549
AA Change: T878I

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: ENSMUST00000163713

SMART Domains

Protein: ENSMUSP00000130820
Gene: ENSMUSG00000021548

Domain	Start	End	E-Value	Type
Pfam:Cyclin_C_2	1	65	2.4e-20	PFAM

Predicted Effect

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TGCTGTGGC	TGCTGTGGCGGCTGTGGC	1: 82,913,577		probably benign	Het
Abi3bp	GCCCACGACCC	GCCCACGACCCACGACCC	16: 56,627,587		probably null	Het
Amer3	A	G	1: 34,587,120	I147V	probably damaging	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,909		probably benign	Het
Ankhd1	GCGGCG	GCGGCGACGGCG	18: 36,560,910		probably benign	Het
Ankzf1	G	A	1: 75,195,833	R259H	probably damaging	Het
Apol9b	T	C	15: 77,735,514	V170A	probably benign	Het
Asb3	A	G	11: 31,061,407	I267M	possibly damaging	Het
Baz2a	A	G	10: 128,125,316	E1636G	probably benign	Het
Birc6	G	T	17: 74,689,324	V4513F	probably damaging	Het
Blm	CCTCCTCC	CCTCCTCCTCCTACTCCTCC	7: 80,512,926		probably null	Het
Ccdc113	G	A	8: 95,538,105	R81H	probably benign	Het
Ccdc27	T	C	4: 154,036,110	R410G	probably benign	Het
Cdhr5	A	G	7: 141,272,184	V435A	possibly damaging	Het
Cercam	T	C	2: 29,869,305	S15P	unknown	Het
Cntrl	T	C	2: 35,119,986	V224A	probably benign	Het
Comtd1	T	A	14: 21,848,596	Q56L	probably benign	Het
Cul9	CCT	CCTACT	17: 46,500,863		probably null	Het
Cyb5r4	TGTGACAGACACACTGCCCAGGGA	TGTGACAGACACACTGCCCAGGGACGTGACAGACACACTGCCCAGGGA	9: 87,040,425		probably benign	Het
Cyb5r4	CCCAGGGA	CCCAGGGATGTGACAGACACACTGACCAGGGA	9: 87,040,441		probably benign	Het
Cyb5r4	AGGGA	AGGGATGGGACAGACCCACTGCCCCGGGA	9: 87,040,444		probably benign	Het
Cyld	T	A	8: 88,705,441	Y22*	probably null	Het
Dbt	T	C	3: 116,539,714	Y278H	probably damaging	Het
Ddb1	A	G	19: 10,627,858	H1070R	probably damaging	Het
Dek	G	T	13: 47,098,186	S248*	probably null	Het
Dixdc1	T	C	9: 50,693,641	T300A	probably benign	Het
Dusp8	A	T	7: 142,082,852	S334T	probably benign	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,874,756		probably benign	Het
Ehbp1	T	C	11: 22,146,646	N306S	probably benign	Het
Fcer1a	T	C	1: 173,225,519	I37V	possibly damaging	Het
Fgfr2	G	T	7: 130,177,680	Q639K	probably benign	Het
Gab3	CTT	CTTATT	X: 74,999,985		probably null	Het
Gins4	T	C	8: 23,232,610	M98V	probably benign	Het
Gm35339	A	T	15: 76,355,972	I331F		Het
Gm813	T	A	16: 58,616,867	N26I	probably damaging	Het
Gm8369	GTGTGTGT	GTGTGTGTTTGTGTGT	19: 11,511,754		probably null	Het
Grik1	G	A	16: 88,034,186	S232L		Het
Gsg1l	A	G	7: 126,020,622		probably null	Het
H13	G	A	2: 152,669,669	E30K	probably damaging	Het
H2-DMb1	A	T	17: 34,157,386	S160C	probably damaging	Het
Hsdl2	GCAGCCACAGCTGCAG	GCAGCCACAGCTGCAGCATCAGCCACAGCTGCAG	4: 59,610,643		probably benign	Het
Iqcf4	TTTCCTTTTCCTTTT	TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTGTTCCTTTTCCTTTT	9: 106,570,609		probably benign	Het
Jag1	T	A	2: 137,096,256	T275S	probably benign	Het
Klhdc2	T	A	12: 69,303,886	I158K	probably damaging	Het
Krtap28-10	TCCC	TCCCGCACCC	1: 83,042,123		probably benign	Het
Lrp2	T	A	2: 69,509,205	M1121L	probably benign	Het
M6pr	C	T	6: 122,315,165	A152V	probably damaging	Het
Mapkapk5	T	C	5: 121,533,316	Y218C	probably damaging	Het
Mkrn1	C	T	6: 39,419,991	V26I		Het
Mro	CA	CAAACTCGGA	18: 73,869,964		probably null	Het
Mrpl3	T	C	9: 105,075,253	V303A	probably benign	Het
Nefh	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,022		probably benign	Het
Nefh	TCACCTGGGGACT	TCACCTGGGGACTCGGCCCCACCTGGGGACT	11: 4,941,023		probably benign	Het
Nid2	GGCTAACACCGC	GGC	14: 19,751,363		probably benign	Het
Nusap1	CAAGCTGAGA	CAAGCTGAGATACACGTTAGCAGTGAGGAGAAAGCTGAGA	2: 119,627,601		probably benign	Het
Olfr212	G	T	6: 116,516,043	A89S	probably benign	Het
Olfr964-ps1	A	ATAGG	9: 39,686,754		probably null	Het
Ovol1	A	G	19: 5,553,612	V87A	probably benign	Het
Pdpk1	T	A	17: 24,093,281	E290D	probably benign	Het
Pkd1l3	T	A	8: 109,623,542	S340T	probably benign	Het
Pknox2	ACACACACACACACACTCAC	ACAC	9: 36,909,609		probably benign	Het
Pou3f1	GC	GCGGCGCC	4: 124,657,809		probably benign	Het
Prp2	AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGAGACCCCCTCAAGGCCCACCACC	6: 132,600,512		probably benign	Het
Prpf6	A	G	2: 181,632,076	M338V	probably benign	Het
Psg28	G	T	7: 18,422,922	L463I	probably damaging	Het
Ptprd	T	C	4: 76,128,655	D211G	probably benign	Het
Pus1	T	C	5: 110,776,558	H160R	not run	Het
Ranbp17	T	C	11: 33,329,511	T582A	probably damaging	Het
Rbm20	A	G	19: 53,813,732	T224A	probably benign	Het
Scgb1b12	A	T	7: 32,334,495	N60I	probably damaging	Het
Sh3bp4	T	C	1: 89,145,022	S531P	probably benign	Het
Sh3pxd2b	TGCCTG	TGCCTGCGCCTG	11: 32,423,053		probably benign	Het
Snrnp200	T	C	2: 127,230,556	L1291P	probably damaging	Het
Sppl2a	C	T	2: 126,927,774	R54Q	probably benign	Het
Sulf2	A	T	2: 166,082,603	L521Q	probably benign	Het
Supv3l1	C	A	10: 62,437,508	V317F	possibly damaging	Het
Tcof1	TCC	TCCACTTGGCTGCTGAGATGGGCACTTTCCCAGAGACCC	18: 60,833,575		probably benign	Het
Thegl	CTCCCCAGTCCCGCAAGGCCAG	CTCCCCAGTCCCGCAAGGCCAGCGATCATCCCCAGTCCCGCAAGGCCAG	5: 77,016,408		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,801,289		probably benign	Het
Unc13b	CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CAGAGCCAGAGCCAGAGCGAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,347		probably benign	Het
Unc13b	AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	AGCCAGAGCCAGAGCCAGCGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,350		probably benign	Het
Usp38	A	G	8: 81,013,893	S182P	probably benign	Het
Vmn2r24	T	C	6: 123,804,215	V460A	probably benign	Het
Zfp598	CAACCAC	CAACCACAACCAC	17: 24,680,771		probably benign	Het

Other mutations in Rasa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Rasa1	APN	13	85288429	missense	probably benign	0.02
IGL01396:Rasa1	APN	13	85258442	missense	probably benign	0.10
IGL01670:Rasa1	APN	13	85225490	missense	probably damaging	0.97
IGL02095:Rasa1	APN	13	85216155	missense	probably benign	0.10
IGL02822:Rasa1	APN	13	85252514	missense	probably damaging	0.97
IGL03126:Rasa1	APN	13	85256396	missense	possibly damaging	0.94
F5770:Rasa1	UTSW	13	85226945	splice site	probably null
PIT4458001:Rasa1	UTSW	13	85227118	missense	possibly damaging	0.91
R1393:Rasa1	UTSW	13	85223522	missense	probably damaging	1.00
R1441:Rasa1	UTSW	13	85252421	splice site	probably null
R1907:Rasa1	UTSW	13	85226572	nonsense	probably null
R4243:Rasa1	UTSW	13	85244195	missense	probably damaging	1.00
R4593:Rasa1	UTSW	13	85238221	splice site	probably null
R4687:Rasa1	UTSW	13	85226635	missense	possibly damaging	0.89
R4689:Rasa1	UTSW	13	85238163	nonsense	probably null
R4753:Rasa1	UTSW	13	85288390	splice site	probably null
R4758:Rasa1	UTSW	13	85234448	missense	probably benign
R4774:Rasa1	UTSW	13	85250502	intron	probably benign
R5363:Rasa1	UTSW	13	85288555	missense	possibly damaging	0.86
R5375:Rasa1	UTSW	13	85288903	intron	probably benign
R6134:Rasa1	UTSW	13	85226626	missense	probably benign	0.01
R6190:Rasa1	UTSW	13	85233695	missense	probably benign	0.02
R6755:Rasa1	UTSW	13	85226598	missense	possibly damaging	0.49
R7564:Rasa1	UTSW	13	85228708	missense	probably benign	0.09
R7862:Rasa1	UTSW	13	85255411	missense	probably damaging	0.99
R9138:Rasa1	UTSW	13	85221516	missense	possibly damaging	0.93
R9280:Rasa1	UTSW	13	85288613	missense	unknown
R9328:Rasa1	UTSW	13	85255456	critical splice acceptor site	probably null
R9340:Rasa1	UTSW	13	85221530	missense	probably damaging	0.98
X0023:Rasa1	UTSW	13	85233734	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGGAGATCTACATGCTACAAAC -3'
(R):5'- GCATTGAGCTAAGCATACTGG -3'

Sequencing Primer
(F):5'- CAAACGAATTAAAATCCAGATGGTTC -3'
(R):5'- CATTGAGCTAAGCATACTGGATTATG -3'

Posted On

2019-12-04