Incidental Mutation 'R4687:Rasa1'
ID 353784
Institutional Source Beutler Lab
Gene Symbol Rasa1
Ensembl Gene ENSMUSG00000021549
Gene Name RAS p21 protein activator 1
Synonyms p120-rasGAP, Gap
MMRRC Submission 041938-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4687 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 85214780-85289130 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85226635 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 739 (D739G)
Ref Sequence ENSEMBL: ENSMUSP00000105179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109552]
AlphaFold E9PYG6
Predicted Effect possibly damaging
Transcript: ENSMUST00000109552
AA Change: D739G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105179
Gene: ENSMUSG00000021549
AA Change: D739G

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 noncoding transcript
Transcript: ENSMUST00000141879
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149799
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152466
Predicted Effect probably benign
Transcript: ENSMUST00000163713
SMART Domains Protein: ENSMUSP00000130820
Gene: ENSMUSG00000021548

DomainStartEndE-ValueType
Pfam:Cyclin_C_2 1 65 2.4e-20 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000223598
AA Change: D197G
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 8,992,153 (GRCm38) Y45N probably damaging Het
Agbl3 T C 6: 34,798,326 (GRCm38) V189A probably damaging Het
Akip1 C A 7: 109,704,986 (GRCm38) S90* probably null Het
Amn A T 12: 111,276,068 (GRCm38) D439V probably benign Het
Arhgap17 T A 7: 123,321,603 (GRCm38) D149V probably damaging Het
Atp6v0a4 A T 6: 38,092,465 (GRCm38) I76N possibly damaging Het
Atp6v1h A T 1: 5,133,085 (GRCm38) N291I probably damaging Het
Baiap2l2 G T 15: 79,259,253 (GRCm38) P462T probably damaging Het
Bves C T 10: 45,354,840 (GRCm38) probably null Het
Cabp7 T A 11: 4,739,265 (GRCm38) K127* probably null Het
Cacna1h A G 17: 25,393,910 (GRCm38) V313A possibly damaging Het
Camkk2 T C 5: 122,753,724 (GRCm38) H245R probably damaging Het
Celsr1 T A 15: 85,932,460 (GRCm38) S1761C possibly damaging Het
Cfap46 T C 7: 139,627,456 (GRCm38) E1849G possibly damaging Het
Ciz1 T C 2: 32,367,465 (GRCm38) L174P probably damaging Het
Crim1 G T 17: 78,303,025 (GRCm38) C303F probably damaging Het
Cyp26c1 A G 19: 37,692,937 (GRCm38) Q396R probably damaging Het
Dnajc7 G A 11: 100,599,300 (GRCm38) P43L probably damaging Het
Dpf2 T C 19: 5,907,012 (GRCm38) H16R probably damaging Het
Dsp A G 13: 38,191,619 (GRCm38) T1127A probably damaging Het
Dst T C 1: 34,201,123 (GRCm38) L1525P probably damaging Het
Ehf T A 2: 103,267,126 (GRCm38) D192V probably damaging Het
Frem1 G T 4: 83,020,631 (GRCm38) N71K probably damaging Het
Furin T A 7: 80,393,447 (GRCm38) T339S probably benign Het
Gad1 T A 2: 70,600,720 (GRCm38) I569N possibly damaging Het
Gfi1 T C 5: 107,723,810 (GRCm38) K10R probably damaging Het
Gm20775 T A Y: 10,641,258 (GRCm38) noncoding transcript Homo
Gpn3 A C 5: 122,378,575 (GRCm38) D89A possibly damaging Het
Gpr18 T A 14: 121,911,678 (GRCm38) R312* probably null Het
Gsap T C 5: 21,246,971 (GRCm38) probably benign Het
H2-Ab1 C A 17: 34,264,809 (GRCm38) T48K probably damaging Het
Hmcn2 A T 2: 31,438,285 (GRCm38) N4326I probably benign Het
Igkv4-51 A C 6: 69,681,730 (GRCm38) probably benign Het
Insr T C 8: 3,161,709 (GRCm38) H1104R probably benign Het
Ipo13 A T 4: 117,901,576 (GRCm38) N697K probably benign Het
Iqcm T G 8: 75,762,989 (GRCm38) F362V probably damaging Het
Irak4 T C 15: 94,566,823 (GRCm38) S425P probably damaging Het
Jakmip2 T C 18: 43,577,412 (GRCm38) E242G possibly damaging Het
Kdm4a T C 4: 118,144,083 (GRCm38) K829R probably damaging Het
Kdr T C 5: 75,968,792 (GRCm38) N145S possibly damaging Het
Klra9 A T 6: 130,185,517 (GRCm38) D185E probably benign Het
Lcn12 T C 2: 25,493,321 (GRCm38) N15S probably benign Het
Mei4 T A 9: 81,927,317 (GRCm38) M151K probably damaging Het
Mmp3 T A 9: 7,451,223 (GRCm38) S320T probably benign Het
Mrps5 C G 2: 127,590,770 (GRCm38) A37G probably benign Het
Mttp A G 3: 138,092,735 (GRCm38) I800T possibly damaging Het
Nags A T 11: 102,148,196 (GRCm38) Q451L probably damaging Het
Nbea T C 3: 56,058,065 (GRCm38) T476A probably damaging Het
Ndufb10 T C 17: 24,722,419 (GRCm38) E145G possibly damaging Het
Neb T G 2: 52,304,035 (GRCm38) S660R possibly damaging Het
Nppb A G 4: 147,986,296 (GRCm38) K43E probably benign Het
Nup188 A T 2: 30,330,633 (GRCm38) Q906L probably benign Het
Olfr1259 T C 2: 89,943,869 (GRCm38) D82G probably damaging Het
Olfr1413 T C 1: 92,573,330 (GRCm38) I53T possibly damaging Het
Olfr370 T A 8: 83,541,860 (GRCm38) S239T probably damaging Het
Olfr895 C A 9: 38,269,414 (GRCm38) N292K probably damaging Het
Ovch2 T A 7: 107,796,548 (GRCm38) I88F possibly damaging Het
Palm3 A G 8: 84,029,935 (GRCm38) E692G probably benign Het
Pcsk6 T C 7: 65,983,753 (GRCm38) F578L probably damaging Het
Piezo2 A C 18: 63,069,963 (GRCm38) D1535E probably damaging Het
Ppp1r15b T C 1: 133,132,135 (GRCm38) V130A probably benign Het
Proca1 T C 11: 78,204,898 (GRCm38) Y32H probably damaging Het
Prtg T A 9: 72,890,798 (GRCm38) V682E probably damaging Het
Pyroxd1 A T 6: 142,361,868 (GRCm38) M455L probably benign Het
Scn3a T C 2: 65,464,730 (GRCm38) I1550V possibly damaging Het
Sepsecs T C 5: 52,643,871 (GRCm38) D483G probably benign Het
Setd7 T C 3: 51,550,355 (GRCm38) D17G probably damaging Het
Sipa1l2 C T 8: 125,491,245 (GRCm38) C451Y probably damaging Het
Slc31a1 A G 4: 62,388,702 (GRCm38) Y165C probably damaging Het
Smg5 T C 3: 88,342,469 (GRCm38) F68L possibly damaging Het
Sptbn5 A G 2: 120,077,208 (GRCm38) probably benign Het
Stk3 A G 15: 35,114,565 (GRCm38) I65T probably damaging Het
Tas2r115 C T 6: 132,737,284 (GRCm38) A235T possibly damaging Het
Tenm2 C T 11: 36,049,097 (GRCm38) A1400T probably benign Het
Tet1 T A 10: 62,838,791 (GRCm38) N1169Y probably benign Het
Treml2 T A 17: 48,309,397 (GRCm38) probably null Het
Tspan11 A G 6: 127,938,235 (GRCm38) E104G probably damaging Het
Wdtc1 G A 4: 133,296,431 (GRCm38) A543V probably damaging Het
Zfp148 T A 16: 33,496,819 (GRCm38) D578E probably damaging Het
Zfp735 A T 11: 73,711,856 (GRCm38) N542I probably damaging Het
Zfp735 A T 11: 73,711,855 (GRCm38) N542Y probably damaging Het
Zfp869 T A 8: 69,708,143 (GRCm38) E65D 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
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
R7564:Rasa1 UTSW 13 85,228,708 (GRCm38) missense probably benign 0.09
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
(F):5'- ACAGTGGCCTTGGAACTGATATAG -3'
(R):5'- CCTATATTAATGGCAGAGAAGAAGC -3'

Sequencing Primer
(F):5'- GCCTTGGAACTGATATAGAATGTAG -3'
(R):5'- CTTGTTGTGTACTTTCAGCA -3'
Posted On 2015-10-21