Incidental Mutation 'IGL00863:Rasa1'
ID 13756
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00863
Quality Score
Status
Chromosome 13
Chromosomal Location 85362899-85437249 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85436548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 160 (V160A)
Ref Sequence ENSEMBL: ENSMUSP00000105179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109552]
AlphaFold E9PYG6
Predicted Effect probably benign
Transcript: ENSMUST00000109552
AA Change: V160A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000105179
Gene: ENSMUSG00000021549
AA Change: V160A

DomainStartEndE-ValueType
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
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bsn A G 9: 107,992,521 (GRCm39) I1077T probably damaging Het
Car8 A G 4: 8,183,251 (GRCm39) probably null Het
Ccdc192 A T 18: 57,727,158 (GRCm39) E136V probably damaging Het
Ccny A T 18: 9,345,444 (GRCm39) D143E probably benign Het
Cdh19 A G 1: 110,876,874 (GRCm39) V155A probably damaging Het
Cript T A 17: 87,335,151 (GRCm39) I14N probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Cyria A T 12: 12,409,235 (GRCm39) I72F probably benign Het
Eef1b2 G A 1: 63,217,665 (GRCm39) G91R probably damaging Het
Fbln5 A G 12: 101,776,175 (GRCm39) V60A probably damaging Het
Fbn1 T A 2: 125,245,139 (GRCm39) E249D possibly damaging Het
G6pc1 G T 11: 101,261,549 (GRCm39) R83L probably damaging Het
Grik2 A G 10: 49,232,024 (GRCm39) V502A possibly damaging Het
Heatr1 T C 13: 12,450,009 (GRCm39) V2001A probably benign Het
Il4i1 T A 7: 44,487,470 (GRCm39) Y148* probably null Het
Jmjd4 T C 11: 59,341,569 (GRCm39) S113P probably benign Het
Nceh1 C T 3: 27,295,462 (GRCm39) P241L probably damaging Het
Pals1 A G 12: 78,856,595 (GRCm39) D146G probably damaging Het
Pcdh10 T A 3: 45,334,737 (GRCm39) D350E probably damaging Het
Pdgfrl A G 8: 41,438,571 (GRCm39) E169G probably damaging Het
Ppm1l T A 3: 69,225,283 (GRCm39) D128E probably damaging Het
Serf2 T C 2: 121,288,184 (GRCm39) probably null Het
Slitrk1 T A 14: 109,149,269 (GRCm39) N481Y probably damaging Het
Tas2r139 T G 6: 42,118,055 (GRCm39) S62R probably damaging Het
Tdpoz4 A T 3: 93,704,380 (GRCm39) T226S probably benign Het
Tvp23b C A 11: 62,774,464 (GRCm39) A36E probably damaging Het
Upp2 G A 2: 58,680,076 (GRCm39) E301K probably benign Het
Other mutations in Rasa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06