Mutagenetix > Incidental Mutation

Incidental Mutation 'R4758:Rasa1'

358356

Institutional Source

Beutler Lab

Gene Symbol

Rasa1

Ensembl Gene

ENSMUSG00000021549

Gene Name

RAS p21 protein activator 1

Synonyms

Gap, p120-rasGAP

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85362899-85437249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85382567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 446 (D446E)

Ref Sequence

ENSEMBL: ENSMUSP00000105179 (fasta)

Gene Model

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

AlphaFold

E9PYG6

Predicted Effect

probably benign
Transcript: ENSMUST00000109552
AA Change: D446E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105179
Gene: ENSMUSG00000021549
AA Change: D446E

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

noncoding transcript
Transcript: ENSMUST00000141879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153231

Predicted Effect

probably benign
Transcript: ENSMUST00000223598

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,127,754 (GRCm39)	Y119N	probably damaging	Het
Actn2	T	A	13: 12,303,472 (GRCm39)	K443*	probably null	Het
Adgrb2	A	G	4: 129,903,143 (GRCm39)	N581S	probably damaging	Het
Afg2a	T	A	3: 37,487,385 (GRCm39)	S416T	probably benign	Het
Alb	A	T	5: 90,616,452 (GRCm39)	H319L	probably benign	Het
Aox1	A	G	1: 58,371,741 (GRCm39)	I802V	probably benign	Het
Arhgap45	G	A	10: 79,866,127 (GRCm39)	G995E	probably benign	Het
Capn12	A	C	7: 28,592,148 (GRCm39)	T689P	possibly damaging	Het
Cars1	T	C	7: 143,125,304 (GRCm39)	S312G	probably benign	Het
Cast	T	A	13: 74,887,999 (GRCm39)	D216V	possibly damaging	Het
Ccdc13	C	T	9: 121,662,800 (GRCm39)	E72K	possibly damaging	Het
Cd300lg	G	T	11: 101,944,417 (GRCm39)		probably null	Het
Cep41	A	G	6: 30,671,368 (GRCm39)		probably benign	Het
Chrna3	A	G	9: 54,929,560 (GRCm39)	Y93H	probably damaging	Het
Cic	A	G	7: 24,991,636 (GRCm39)	R1309G	possibly damaging	Het
Clcnkb	A	G	4: 141,135,160 (GRCm39)	V526A	probably benign	Het
Clec4a1	G	T	6: 122,910,825 (GRCm39)	V227F	probably damaging	Het
Cpa5	C	A	6: 30,615,159 (GRCm39)	H99N	possibly damaging	Het
Crem	C	A	18: 3,327,527 (GRCm39)	C4F	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Decr2	C	A	17: 26,307,914 (GRCm39)	E46D	probably damaging	Het
Dlg1	G	A	16: 31,610,570 (GRCm39)	V284I	possibly damaging	Het
Dnah3	T	C	7: 119,678,629 (GRCm39)	E360G	probably benign	Het
Dnajc1	A	T	2: 18,313,757 (GRCm39)	Y121*	probably null	Het
Dnajc13	A	G	9: 104,049,773 (GRCm39)	F1783L	probably damaging	Het
Eps8l2	T	A	7: 140,940,286 (GRCm39)	D505E	probably damaging	Het
Eral1	G	A	11: 77,966,425 (GRCm39)	T251I	probably benign	Het
Eya3	T	C	4: 132,422,196 (GRCm39)		probably null	Het
Fam120a	G	A	13: 49,034,333 (GRCm39)	T1093I	probably benign	Het
Fbn2	C	T	18: 58,159,458 (GRCm39)	A2424T	probably benign	Het
Git2	G	A	5: 114,868,412 (GRCm39)	T256M	probably damaging	Het
Gm9805	A	T	17: 22,689,871 (GRCm38)	Y34F	probably benign	Het
Itgb7	T	G	15: 102,124,642 (GRCm39)	T792P	probably benign	Het
Jakmip1	T	A	5: 37,285,966 (GRCm39)	I665N	probably damaging	Het
Kcnt2	T	C	1: 140,446,635 (GRCm39)	Y677H	probably damaging	Het
Klhdc4	G	A	8: 122,524,783 (GRCm39)	P382S	probably benign	Het
Knl1	TCC	TC	2: 118,902,213 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,022,269 (GRCm39)	M1039K	possibly damaging	Het
Lipm	A	T	19: 34,078,570 (GRCm39)	M1L	possibly damaging	Het
Lrrc37	A	G	11: 103,505,290 (GRCm39)	V2226A	possibly damaging	Het
Magi3	T	A	3: 103,922,637 (GRCm39)	D1360V	probably benign	Het
Mier2	C	A	10: 79,386,182 (GRCm39)	C23F	probably damaging	Het
Myo1h	C	T	5: 114,487,643 (GRCm39)	R616C	probably damaging	Het
Nars2	A	G	7: 96,622,735 (GRCm39)	D187G	probably damaging	Het
Nbea	T	C	3: 55,912,824 (GRCm39)	M988V	probably benign	Het
Nlrc5	C	A	8: 95,238,956 (GRCm39)	Q1465K	possibly damaging	Het
Nlrp4e	T	C	7: 23,020,043 (GRCm39)	F177L	probably benign	Het
Oas1a	A	G	5: 121,045,401 (GRCm39)	F47L	probably damaging	Het
Oas1f	A	G	5: 120,985,545 (GRCm39)	E30G	probably damaging	Het
Obscn	A	T	11: 58,894,189 (GRCm39)	M6689K	unknown	Het
Obscn	A	T	11: 59,026,743 (GRCm39)	D153E	probably damaging	Het
Or52s6	A	C	7: 103,092,076 (GRCm39)	C85G	probably damaging	Het
Osmr	A	T	15: 6,882,036 (GRCm39)	I36K	probably benign	Het
Pcf11	A	T	7: 92,310,383 (GRCm39)	F535Y	probably damaging	Het
Pde2a	C	T	7: 101,160,706 (GRCm39)	R886C	probably damaging	Het
Pik3ca	T	A	3: 32,492,127 (GRCm39)	C242S	probably benign	Het
Pikfyve	T	A	1: 65,311,674 (GRCm39)	D1925E	possibly damaging	Het
Plekhm2	A	T	4: 141,369,316 (GRCm39)	Y123N	possibly damaging	Het
Pomt2	A	T	12: 87,169,652 (GRCm39)	V406D	probably damaging	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Prdm10	A	T	9: 31,273,708 (GRCm39)	T985S	probably benign	Het
Proc	T	A	18: 32,256,863 (GRCm39)	Y268F	probably damaging	Het
Prrc1	C	T	18: 57,517,320 (GRCm39)	T365M	probably damaging	Het
Ribc2	T	A	15: 85,025,867 (GRCm39)	L281Q	probably damaging	Het
Runx1t1	A	G	4: 13,865,907 (GRCm39)	D385G	probably damaging	Het
Sdk2	A	G	11: 113,717,880 (GRCm39)	S1495P	possibly damaging	Het
Slc15a3	G	T	19: 10,831,726 (GRCm39)		probably null	Het
Slc43a3	A	G	2: 84,774,869 (GRCm39)	N149S	probably damaging	Het
Specc1l	A	G	10: 75,082,182 (GRCm39)	Q543R	probably damaging	Het
Spef1	T	C	2: 131,014,661 (GRCm39)		probably null	Het
Spns1	A	T	7: 125,969,966 (GRCm39)	F478Y	probably damaging	Het
Srebf2	T	C	15: 82,080,370 (GRCm39)	V821A	probably benign	Het
Stac3	A	G	10: 127,339,214 (GRCm39)	M108V	possibly damaging	Het
Stradb	A	G	1: 59,027,730 (GRCm39)	T87A	probably benign	Het
Stxbp5l	A	T	16: 36,954,592 (GRCm39)	M906K	probably benign	Het
Tex14	T	C	11: 87,405,311 (GRCm39)	V741A	probably benign	Het
Thoc2l	A	C	5: 104,668,265 (GRCm39)	E929A	possibly damaging	Het
Tpo	C	A	12: 30,125,870 (GRCm39)	G830C	probably damaging	Het
Unc79	T	A	12: 103,128,080 (GRCm39)	C2308*	probably null	Het
Vmn1r205	T	C	13: 22,777,016 (GRCm39)	T29A	possibly damaging	Het
Vmn1r69	G	A	7: 10,314,473 (GRCm39)	T7I	probably benign	Het
Vmn2r27	T	G	6: 124,208,596 (GRCm39)	T50P	possibly damaging	Het
Wdr83	A	G	8: 85,801,867 (GRCm39)	Y302H	probably benign	Het
Xirp2	A	T	2: 67,346,879 (GRCm39)	E3040V	probably damaging	Het
Zfp629	C	A	7: 127,209,758 (GRCm39)	G684W	probably 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
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
R9328:Rasa1	UTSW	13	85,403,575 (GRCm39)	critical splice acceptor site	probably null
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'- CATTCTATGTGGAAGCTCTGAAC -3'
(R):5'- CCGGCATTTGTCCATGAGAC -3'

Sequencing Primer
(F):5'- GTGGAAGCTCTGAACAAATACTTG -3'
(R):5'- CCATGAGACATTGTTCTTAAGAAATG -3'

Posted On

2015-11-11