Incidental Mutation 'R7564:Rasa1'
ID 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 13
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

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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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

Sequencing Primer
Posted On 2019-10-17