Incidental Mutation 'R9258:Rasal1'
ID 702006
Institutional Source Beutler Lab
Gene Symbol Rasal1
Ensembl Gene ENSMUSG00000029602
Gene Name RAS protein activator like 1 (GAP1 like)
Synonyms MRASAL
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9258 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 120786877-120817662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120793155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 87 (I87F)
Ref Sequence ENSEMBL: ENSMUSP00000031606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031606] [ENSMUST00000125804] [ENSMUST00000156722]
AlphaFold Q9Z268
Predicted Effect possibly damaging
Transcript: ENSMUST00000031606
AA Change: I87F

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031606
Gene: ENSMUSG00000029602
AA Change: I87F

DomainStartEndE-ValueType
C2 6 113 7.74e-13 SMART
C2 134 231 2e-15 SMART
RasGAP 241 604 3.96e-166 SMART
PH 566 674 2.76e-16 SMART
BTK 674 710 2.24e-4 SMART
low complexity region 731 745 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125804
SMART Domains Protein: ENSMUSP00000119913
Gene: ENSMUSG00000029602

DomainStartEndE-ValueType
Pfam:C2 7 73 4.5e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000156722
AA Change: I87F

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123266
Gene: ENSMUSG00000029602
AA Change: I87F

DomainStartEndE-ValueType
C2 6 113 7.74e-13 SMART
C2 134 231 2e-15 SMART
RasGAP 241 604 3.96e-166 SMART
PH 566 674 2.76e-16 SMART
BTK 674 710 2.24e-4 SMART
low complexity region 731 745 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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 member of the GAP1 family of GTPase-activating proteins. These proteins stimulate 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. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 T A 8: 124,709,347 (GRCm39) Q69L probably benign Het
Abtb2 A C 2: 103,546,410 (GRCm39) Q930P probably null Het
Adam18 G A 8: 25,158,574 (GRCm39) T73I probably benign Het
Ankrd54 A T 15: 78,946,996 (GRCm39) M1K probably null Het
Anks1 T C 17: 28,277,400 (GRCm39) V1106A probably damaging Het
Aox1 A T 1: 58,351,515 (GRCm39) I701F probably damaging Het
Arfgef3 C T 10: 18,465,387 (GRCm39) R2152H probably damaging Het
Arnt2 C T 7: 84,010,798 (GRCm39) G37E probably damaging Het
Arpp21 G A 9: 111,953,956 (GRCm39) T581M probably benign Het
Arvcf A G 16: 18,216,957 (GRCm39) N428S probably damaging Het
C2cd3 A G 7: 100,098,026 (GRCm39) E1471G Het
Cadm1 A G 9: 47,710,730 (GRCm39) K211R probably benign Het
Cdh6 A G 15: 13,064,462 (GRCm39) S143P probably damaging Het
Cep152 G A 2: 125,421,356 (GRCm39) Q1125* probably null Het
Cfap54 A C 10: 92,770,960 (GRCm39) S2095A unknown Het
Col12a1 T C 9: 79,613,645 (GRCm39) T67A probably benign Het
Col6a3 T C 1: 90,700,703 (GRCm39) N3216S unknown Het
Cpeb2 T A 5: 43,391,455 (GRCm39) L217Q Het
Ctbp2 A T 7: 132,597,021 (GRCm39) N119K probably damaging Het
Des G T 1: 75,340,289 (GRCm39) V399L probably benign Het
Dnah2 G T 11: 69,368,079 (GRCm39) H1753Q probably damaging Het
Dnajc6 T C 4: 101,475,813 (GRCm39) V562A probably benign Het
Dusp13b T C 14: 21,791,155 (GRCm39) D99G probably benign Het
Ehd3 A G 17: 74,127,561 (GRCm39) I165V probably benign Het
Eme2 C T 17: 25,112,053 (GRCm39) V241M probably damaging Het
Eml5 A G 12: 98,810,376 (GRCm39) L860P possibly damaging Het
Eogt T A 6: 97,089,043 (GRCm39) K521M possibly damaging Het
Epb41l5 T C 1: 119,506,701 (GRCm39) T489A probably benign Het
Fmo5 G T 3: 97,558,802 (GRCm39) V421L probably benign Het
Gabpa C T 16: 84,653,403 (GRCm39) P268S probably benign Het
Gas2l3 G T 10: 89,262,315 (GRCm39) H136N probably benign Het
Gm5592 C T 7: 40,938,407 (GRCm39) A563V possibly damaging Het
Gpn3 A T 5: 122,519,508 (GRCm39) D205V probably benign Het
H13 T C 2: 152,522,999 (GRCm39) L104S probably damaging Het
H2-Q4 T A 17: 35,599,105 (GRCm39) V125E probably benign Het
Ifih1 A G 2: 62,442,242 (GRCm39) F374S probably damaging Het
Ildr2 A G 1: 166,131,158 (GRCm39) D338G probably damaging Het
Kmt2b A T 7: 30,281,893 (GRCm39) N1162K probably null Het
Lmntd1 T C 6: 145,359,256 (GRCm39) D298G probably damaging Het
Lrrc32 T A 7: 98,148,345 (GRCm39) V375E probably benign Het
Lrrc37a A C 11: 103,393,022 (GRCm39) I801R probably benign Het
Matcap1 A G 8: 106,008,775 (GRCm39) V414A probably damaging Het
Mgam A G 6: 40,657,121 (GRCm39) E935G probably benign Het
Mms22l A T 4: 24,588,238 (GRCm39) T917S probably damaging Het
Myo3a A T 2: 22,467,545 (GRCm39) E1204D possibly damaging Het
Nav3 T A 10: 109,550,243 (GRCm39) E1829V probably damaging Het
Nccrp1 C T 7: 28,245,632 (GRCm39) G150D probably damaging Het
Nlrp4b G T 7: 10,444,087 (GRCm39) W12L probably damaging Het
Nmb T C 7: 80,554,001 (GRCm39) T71A possibly damaging Het
Ogfod2 T A 5: 124,250,505 (GRCm39) H35Q probably benign Het
Ola1 A T 2: 72,929,732 (GRCm39) S290R probably damaging Het
Or1e30 T G 11: 73,678,281 (GRCm39) N172K probably benign Het
Or4k47 A T 2: 111,452,329 (GRCm39) I30N possibly damaging Het
Or51v15-ps1 T G 7: 103,278,543 (GRCm39) Y208S unknown Het
Or52e2 C A 7: 102,804,409 (GRCm39) E182* probably null Het
Or5p68 T G 7: 107,945,886 (GRCm39) T101P probably benign Het
Or9i14 A T 19: 13,792,099 (GRCm39) L285* probably null Het
Pcsk9 T C 4: 106,316,047 (GRCm39) D132G possibly damaging Het
Pkhd1 A T 1: 20,444,174 (GRCm39) V2296E probably damaging Het
Prl2c5 A T 13: 13,365,297 (GRCm39) I151L probably damaging Het
Prl3d3 A T 13: 27,344,931 (GRCm39) D101V possibly damaging Het
Prrt1 A G 17: 34,850,120 (GRCm39) Y178C probably damaging Het
Rpgrip1l A T 8: 91,987,614 (GRCm39) Y814* probably null Het
Rpl3l T G 17: 24,951,447 (GRCm39) probably null Het
Rrbp1 C A 2: 143,853,161 (GRCm39) probably benign Het
Ryr3 A G 2: 112,483,364 (GRCm39) S4158P probably damaging Het
Scube2 G T 7: 109,398,515 (GRCm39) S951Y probably damaging Het
Sec14l1 T C 11: 117,041,002 (GRCm39) V396A probably benign Het
Sh3gl1 T A 17: 56,325,911 (GRCm39) K173* probably null Het
Shank3 A T 15: 89,388,521 (GRCm39) E371V probably damaging Het
Slc25a24 A G 3: 109,066,751 (GRCm39) T302A probably damaging Het
Slc25a41 A T 17: 57,348,580 (GRCm39) H4Q probably benign Het
Slc45a1 A T 4: 150,723,071 (GRCm39) V271D possibly damaging Het
Smad6 A T 9: 63,927,573 (GRCm39) L245Q probably damaging Het
Smad7 C A 18: 75,527,317 (GRCm39) Q388K probably damaging Het
Snx29 G T 16: 11,532,799 (GRCm39) D348Y possibly damaging Het
Son A T 16: 91,474,570 (GRCm39) H2418L unknown Het
Sppl3 G A 5: 115,233,922 (GRCm39) V331M probably damaging Het
St13 T G 15: 81,272,569 (GRCm39) T92P probably benign Het
St3gal4 A G 9: 34,963,643 (GRCm39) W222R probably damaging Het
Stk32a T A 18: 43,444,999 (GRCm39) N264K probably benign Het
Stoml3 T A 3: 53,405,397 (GRCm39) I26N possibly damaging Het
Taf7 T C 18: 37,776,021 (GRCm39) E182G probably damaging Het
Tas2r138 A G 6: 40,590,129 (GRCm39) V39A probably damaging Het
Tbc1d12 A G 19: 38,889,823 (GRCm39) S418G possibly damaging Het
Tbr1 T A 2: 61,642,723 (GRCm39) C663S probably benign Het
Tmc5 A T 7: 118,222,501 (GRCm39) Y67F probably benign Het
Tnfsf4 A C 1: 161,244,814 (GRCm39) I168L probably benign Het
Trav5-1 T G 14: 52,860,347 (GRCm39) S51A probably benign Het
Trmt10c A T 16: 55,854,646 (GRCm39) C330S possibly damaging Het
Trpm1 T C 7: 63,884,713 (GRCm39) M798T probably benign Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Unc13d CATGCC CATGCCTCCGATGCC 11: 115,959,007 (GRCm39) probably benign Het
Vmn1r199 A G 13: 22,566,822 (GRCm39) T39A possibly damaging Het
Vmn1r74 T A 7: 11,580,999 (GRCm39) C100S possibly damaging Het
Vmn2r77 T A 7: 86,452,302 (GRCm39) I494K possibly damaging Het
Wdr17 G A 8: 55,112,654 (GRCm39) Q816* probably null Het
Other mutations in Rasal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Rasal1 APN 5 120,802,872 (GRCm39) missense probably damaging 1.00
IGL01700:Rasal1 APN 5 120,814,882 (GRCm39) missense probably benign 0.06
IGL01790:Rasal1 APN 5 120,808,383 (GRCm39) missense possibly damaging 0.61
IGL01866:Rasal1 APN 5 120,813,488 (GRCm39) missense probably damaging 1.00
IGL02143:Rasal1 APN 5 120,790,917 (GRCm39) missense probably damaging 1.00
IGL02527:Rasal1 APN 5 120,804,469 (GRCm39) missense probably damaging 0.98
IGL02565:Rasal1 APN 5 120,814,845 (GRCm39) splice site probably benign
IGL02710:Rasal1 APN 5 120,804,496 (GRCm39) missense possibly damaging 0.71
PIT4618001:Rasal1 UTSW 5 120,808,441 (GRCm39) missense probably damaging 0.99
R0270:Rasal1 UTSW 5 120,812,794 (GRCm39) missense probably damaging 0.97
R0281:Rasal1 UTSW 5 120,812,670 (GRCm39) missense probably benign
R0673:Rasal1 UTSW 5 120,808,449 (GRCm39) missense probably benign 0.26
R1227:Rasal1 UTSW 5 120,808,372 (GRCm39) missense probably damaging 0.99
R1475:Rasal1 UTSW 5 120,801,047 (GRCm39) missense possibly damaging 0.55
R1486:Rasal1 UTSW 5 120,792,917 (GRCm39) missense probably damaging 1.00
R1557:Rasal1 UTSW 5 120,814,914 (GRCm39) missense possibly damaging 0.87
R1651:Rasal1 UTSW 5 120,790,910 (GRCm39) nonsense probably null
R1792:Rasal1 UTSW 5 120,802,821 (GRCm39) missense probably benign 0.06
R2148:Rasal1 UTSW 5 120,800,096 (GRCm39) missense probably damaging 0.97
R2964:Rasal1 UTSW 5 120,809,685 (GRCm39) missense probably damaging 0.99
R2966:Rasal1 UTSW 5 120,809,685 (GRCm39) missense probably damaging 0.99
R2983:Rasal1 UTSW 5 120,792,927 (GRCm39) missense probably benign 0.45
R4090:Rasal1 UTSW 5 120,813,674 (GRCm39) missense possibly damaging 0.95
R4205:Rasal1 UTSW 5 120,797,628 (GRCm39) missense probably benign 0.21
R4643:Rasal1 UTSW 5 120,817,029 (GRCm39) missense probably benign 0.05
R4979:Rasal1 UTSW 5 120,816,741 (GRCm39) missense probably benign
R5171:Rasal1 UTSW 5 120,801,829 (GRCm39) missense probably benign
R5187:Rasal1 UTSW 5 120,813,460 (GRCm39) missense probably benign 0.13
R5877:Rasal1 UTSW 5 120,817,135 (GRCm39) utr 3 prime probably benign
R5924:Rasal1 UTSW 5 120,813,582 (GRCm39) missense probably damaging 1.00
R6037:Rasal1 UTSW 5 120,787,566 (GRCm39) missense possibly damaging 0.55
R6037:Rasal1 UTSW 5 120,787,566 (GRCm39) missense possibly damaging 0.55
R6136:Rasal1 UTSW 5 120,813,543 (GRCm39) missense possibly damaging 0.84
R6159:Rasal1 UTSW 5 120,797,673 (GRCm39) missense probably damaging 1.00
R6292:Rasal1 UTSW 5 120,797,685 (GRCm39) missense probably damaging 0.97
R6548:Rasal1 UTSW 5 120,812,790 (GRCm39) missense probably benign 0.00
R7042:Rasal1 UTSW 5 120,802,025 (GRCm39) splice site probably null
R7194:Rasal1 UTSW 5 120,813,557 (GRCm39) missense probably benign
R7356:Rasal1 UTSW 5 120,792,890 (GRCm39) missense possibly damaging 0.65
R7406:Rasal1 UTSW 5 120,801,002 (GRCm39) missense probably benign 0.11
R7662:Rasal1 UTSW 5 120,800,249 (GRCm39) missense probably benign 0.36
R8089:Rasal1 UTSW 5 120,809,643 (GRCm39) missense probably damaging 1.00
R8320:Rasal1 UTSW 5 120,804,420 (GRCm39) missense probably benign 0.01
R8321:Rasal1 UTSW 5 120,804,420 (GRCm39) missense probably benign 0.01
R8362:Rasal1 UTSW 5 120,813,485 (GRCm39) missense probably damaging 1.00
R8368:Rasal1 UTSW 5 120,809,615 (GRCm39) missense probably damaging 1.00
R8379:Rasal1 UTSW 5 120,804,420 (GRCm39) missense probably benign 0.01
R8380:Rasal1 UTSW 5 120,804,420 (GRCm39) missense probably benign 0.01
R8383:Rasal1 UTSW 5 120,804,420 (GRCm39) missense probably benign 0.01
R8710:Rasal1 UTSW 5 120,801,002 (GRCm39) missense probably benign 0.11
R8817:Rasal1 UTSW 5 120,808,416 (GRCm39) missense probably damaging 0.96
R9300:Rasal1 UTSW 5 120,802,172 (GRCm39) missense probably damaging 1.00
R9394:Rasal1 UTSW 5 120,816,746 (GRCm39) missense probably benign
R9746:Rasal1 UTSW 5 120,800,358 (GRCm39) missense probably damaging 1.00
X0057:Rasal1 UTSW 5 120,802,577 (GRCm39) critical splice donor site probably null
Z1176:Rasal1 UTSW 5 120,802,914 (GRCm39) missense probably benign 0.00
Z1176:Rasal1 UTSW 5 120,790,881 (GRCm39) missense probably damaging 1.00
Z1177:Rasal1 UTSW 5 120,814,903 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTCTACGTGCTGGATGAGG -3'
(R):5'- AACCCCAGGTCTATGAAGATGAG -3'

Sequencing Primer
(F):5'- TACGTGCTGGATGAGGACACC -3'
(R):5'- CCCCAGGTCTATGAAGATGAGTTAGC -3'
Posted On 2022-03-25