Incidental Mutation 'R5375:Rasa1'
ID 429033
Institutional Source Beutler Lab
Gene Symbol Rasa1
Ensembl Gene ENSMUSG00000021549
Gene Name RAS p21 protein activator 1
Synonyms Gap, p120-rasGAP
MMRRC Submission 042951-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5375 (G1)
Quality Score 114
Status Not validated
Chromosome 13
Chromosomal Location 85362899-85437249 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 85437022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000109552]
AlphaFold E9PYG6
Predicted Effect unknown
Transcript: ENSMUST00000109552
AA Change: M2K
SMART Domains Protein: ENSMUSP00000105179
Gene: ENSMUSG00000021549
AA Change: M2K

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 T A 12: 4,260,870 (GRCm39) N995K probably damaging Het
Aldh4a1 T C 4: 139,361,233 (GRCm39) M60T probably benign Het
Alpk2 A T 18: 65,505,809 (GRCm39) H70Q probably damaging Het
Babam2 T A 5: 31,859,207 (GRCm39) I5N possibly damaging Het
Blm T C 7: 80,162,977 (GRCm39) T125A probably benign Het
Bloc1s1 T C 10: 128,759,826 (GRCm39) probably benign Het
Calcr G T 6: 3,714,651 (GRCm39) Q160K probably benign Het
Ccdc43 C T 11: 102,581,058 (GRCm39) A131T probably damaging Het
Cdh15 A T 8: 123,591,839 (GRCm39) N575Y probably damaging Het
Chd8 T C 14: 52,441,611 (GRCm39) D827G probably damaging Het
Col3a1 A G 1: 45,387,059 (GRCm39) probably null Het
Creb5 A T 6: 53,658,002 (GRCm39) M255L possibly damaging Het
Cst8 A G 2: 148,646,503 (GRCm39) I78V probably benign Het
Cyld A G 8: 89,459,664 (GRCm39) E440G possibly damaging Het
Cyp2b9 A C 7: 25,887,167 (GRCm39) D192A probably damaging Het
Dclre1b C T 3: 103,711,290 (GRCm39) R207H probably damaging Het
Dnah6 A T 6: 73,100,838 (GRCm39) F1936L probably damaging Het
Dpp9 A C 17: 56,496,424 (GRCm39) Y761* probably null Het
Drc1 A T 5: 30,513,745 (GRCm39) M434L probably benign Het
Dtx3l A T 16: 35,753,397 (GRCm39) I403N probably damaging Het
Ecpas T A 4: 58,809,401 (GRCm39) K1658* probably null Het
Efcab9 A G 11: 32,477,484 (GRCm39) Y13H probably damaging Het
Efhb T A 17: 53,708,654 (GRCm39) N672I possibly damaging Het
Eif5b T C 1: 38,084,835 (GRCm39) V894A possibly damaging Het
Elovl3 T C 19: 46,123,135 (GRCm39) F237S probably benign Het
Emc1 T A 4: 139,093,802 (GRCm39) D637E probably damaging Het
Erbb2 C A 11: 98,324,238 (GRCm39) P742Q probably damaging Het
Fam234b C A 6: 135,210,355 (GRCm39) L584M probably damaging Het
Fancd2 A T 6: 113,545,673 (GRCm39) D14V possibly damaging Het
Fat2 T C 11: 55,153,646 (GRCm39) H3522R probably benign Het
Fgfr2 T C 7: 129,842,945 (GRCm39) N147D possibly damaging Het
Gm26657 A G 4: 56,741,180 (GRCm39) probably benign Het
Hcrtr1 C T 4: 130,029,518 (GRCm39) V188M probably benign Het
Herc1 T C 9: 66,375,169 (GRCm39) V3331A probably damaging Het
Hmcn2 T C 2: 31,320,453 (GRCm39) V3978A possibly damaging Het
Invs G A 4: 48,385,262 (GRCm39) R202K probably benign Het
Lgr5 C T 10: 115,314,469 (GRCm39) S156N probably benign Het
Mras T G 9: 99,276,669 (GRCm39) D67A probably damaging Het
Mrpl39 A G 16: 84,520,790 (GRCm39) L283P probably damaging Het
Ncoa6 A T 2: 155,275,915 (GRCm39) I110N probably benign Het
Neb T C 2: 52,102,596 (GRCm39) D544G possibly damaging Het
Nlrc3 A G 16: 3,782,617 (GRCm39) I264T possibly damaging Het
Or10a2 T A 7: 106,673,080 (GRCm39) M15K probably benign Het
Or1j13 A G 2: 36,369,309 (GRCm39) Y278H probably damaging Het
Or5k16 T C 16: 58,736,248 (GRCm39) Y252C possibly damaging Het
Or7g18 A G 9: 18,787,442 (GRCm39) K273R probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Phf11d T C 14: 59,590,120 (GRCm39) D234G probably null Het
Polq A T 16: 36,903,146 (GRCm39) D1980V probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec23a A G 12: 59,053,791 (GRCm39) V69A probably benign Het
Sipa1 A G 19: 5,709,640 (GRCm39) I260T probably damaging Het
Smarcc1 T A 9: 110,020,017 (GRCm39) L628H probably damaging Het
Snx31 A G 15: 36,525,730 (GRCm39) V323A probably damaging Het
Sun2 A G 15: 79,611,723 (GRCm39) S565P probably damaging Het
Tmem74 C T 15: 43,730,564 (GRCm39) D160N possibly damaging Het
Tnik T C 3: 28,648,241 (GRCm39) M431T probably benign Het
Trp53inp1 A G 4: 11,165,305 (GRCm39) T110A probably benign Het
Ttll9 G T 2: 152,826,144 (GRCm39) C118F probably benign Het
Vps4b A G 1: 106,719,422 (GRCm39) L42P probably benign Het
Xirp2 A T 2: 67,342,250 (GRCm39) N1497I probably damaging Het
Xpo4 A G 14: 57,875,764 (GRCm39) V123A probably damaging Het
Zfhx4 A T 3: 5,477,485 (GRCm39) T3367S probably damaging Het
Zfp236 T C 18: 82,615,813 (GRCm39) E1782G possibly damaging Het
Zfp35 T A 18: 24,135,973 (GRCm39) C106S possibly damaging Het
Zfpm1 A G 8: 123,062,812 (GRCm39) T624A probably benign Het
Zmiz2 C T 11: 6,347,519 (GRCm39) Q276* probably null 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
R5363:Rasa1 UTSW 13 85,436,674 (GRCm39) missense possibly damaging 0.86
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'- TTGGTGAAAGCGACGTCTC -3'
(R):5'- TTTGCCTAGCGTTTCTGCAG -3'

Sequencing Primer
(F):5'- TCCCCAGGAACCCGGAC -3'
(R):5'- TTCCCGTAAGCCAGCCAG -3'
Posted On 2016-09-06