Incidental Mutation 'R5363:Rasa1'
ID 422950
Institutional Source Beutler Lab
Gene Symbol Rasa1
Ensembl Gene ENSMUSG00000021549
Gene Name RAS p21 protein activator 1
Synonyms Gap, p120-rasGAP
MMRRC Submission 042941-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5363 (G1)
Quality Score 142
Status Not validated
Chromosome 13
Chromosomal Location 85362899-85437249 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85436674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 118 (T118K)
Ref Sequence ENSEMBL: ENSMUSP00000105179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109552]
AlphaFold E9PYG6
Predicted Effect possibly damaging
Transcript: ENSMUST00000109552
AA Change: T118K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105179
Gene: ENSMUSG00000021549
AA Change: T118K

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,132,963 (GRCm39) I40T probably benign Het
Abca13 T C 11: 9,227,035 (GRCm39) V597A possibly damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Anapc1 A G 2: 128,492,114 (GRCm39) probably null Het
Ap4e1 G A 2: 126,879,784 (GRCm39) probably null Het
Apod T C 16: 31,129,909 (GRCm39) T16A probably benign Het
Arrdc5 C T 17: 56,607,138 (GRCm39) V36M probably damaging Het
Bcan A G 3: 87,902,794 (GRCm39) V328A probably damaging Het
Bche A G 3: 73,607,972 (GRCm39) Y485H probably damaging Het
Btbd6 A G 12: 112,941,756 (GRCm39) Y356C probably damaging Het
Cdh4 A G 2: 179,528,556 (GRCm39) T555A probably benign Het
Ciita C T 16: 10,330,031 (GRCm39) H769Y probably damaging Het
Clspn A G 4: 126,455,579 (GRCm39) D35G possibly damaging Het
Cpsf3 T A 12: 21,358,986 (GRCm39) M562K probably benign Het
Cstdc1 G T 2: 148,625,298 (GRCm39) L77F probably damaging Het
Cwc22 ATCTCTCTCTCTCTCTCT ATCTCTCTCTCTCTCT 2: 77,759,803 (GRCm39) probably null Het
Cyp2a22 T A 7: 26,635,858 (GRCm39) Q235L probably damaging Het
Dicer1 A G 12: 104,669,410 (GRCm39) S1091P probably damaging Het
Dync1li1 T A 9: 114,544,297 (GRCm39) I323N probably damaging Het
Fat4 A G 3: 38,942,154 (GRCm39) N349S probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Hectd4 T C 5: 121,448,666 (GRCm39) M338T probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Lactb2 A T 1: 13,700,356 (GRCm39) I225N probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mrps30 A G 13: 118,523,698 (GRCm39) S25P probably benign Het
Myg1 T C 15: 102,246,259 (GRCm39) V378A probably benign Het
Notch4 C T 17: 34,806,097 (GRCm39) T1731I probably damaging Het
Ntmt1 A G 2: 30,710,660 (GRCm39) D121G probably damaging Het
Or10p21 C A 10: 128,847,783 (GRCm39) P210T probably damaging Het
Or5d39 A T 2: 87,980,146 (GRCm39) D72E probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pclo A G 5: 14,719,424 (GRCm39) D1187G unknown Het
Pkd1 T A 17: 24,784,047 (GRCm39) Y198N probably benign Het
Plk4 T A 3: 40,756,419 (GRCm39) N83K possibly damaging Het
Prune2 A T 19: 17,095,630 (GRCm39) Q378L probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rin3 G A 12: 102,292,093 (GRCm39) V97M probably damaging Het
Rock2 T C 12: 17,015,655 (GRCm39) probably null Het
Slc34a1 A G 13: 55,551,081 (GRCm39) I289V probably benign Het
Slc34a1 T C 13: 55,560,103 (GRCm39) L443P probably damaging Het
Slco2a1 A T 9: 102,947,462 (GRCm39) I254F probably damaging Het
Spink11 T C 18: 44,328,753 (GRCm39) I32V probably benign Het
Spire1 T C 18: 67,639,625 (GRCm39) E296G probably damaging Het
Sun1 A G 5: 139,220,498 (GRCm39) N410D probably damaging Het
Syt14 T A 1: 192,612,971 (GRCm39) T610S possibly damaging Het
Tenm3 T C 8: 48,740,866 (GRCm39) I1206V possibly damaging Het
Tet3 A T 6: 83,353,746 (GRCm39) probably null Het
Thbs1 A T 2: 117,953,147 (GRCm39) Q919L probably damaging Het
Trappc10 A G 10: 78,024,674 (GRCm39) F1152L possibly damaging Het
Trp63 C A 16: 25,682,468 (GRCm39) N176K probably damaging Het
Zbtb17 A G 4: 141,194,072 (GRCm39) E700G probably benign Het
Zfp446 G A 7: 12,711,984 (GRCm39) R69H probably benign Het
Zfy2 C T Y: 2,106,555 (GRCm39) C693Y possibly damaging Het
Zxdc A G 6: 90,359,128 (GRCm39) T587A probably damaging Het
Zyg11a A G 4: 108,046,819 (GRCm39) C552R probably damaging Het
Other mutations in Rasa1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4758:Rasa1 UTSW 13 85,382,567 (GRCm39) missense probably benign
R4774:Rasa1 UTSW 13 85,398,621 (GRCm39) intron probably benign
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

Sequencing Primer
Posted On 2016-08-04