Incidental Mutation 'R1557:Rasal1'
ID 170335
Institutional Source Beutler Lab
Gene Symbol Rasal1
Ensembl Gene ENSMUSG00000029602
Gene Name RAS protein activator like 1 (GAP1 like)
Synonyms MRASAL
MMRRC Submission 039596-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1557 (G1)
Quality Score 187
Status Validated
Chromosome 5
Chromosomal Location 120786877-120817662 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120814914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 721 (D721E)
Ref Sequence ENSEMBL: ENSMUSP00000123266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031606] [ENSMUST00000031607] [ENSMUST00000156722]
AlphaFold Q9Z268
Predicted Effect possibly damaging
Transcript: ENSMUST00000031606
AA Change: D721E

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031606
Gene: ENSMUSG00000029602
AA Change: D721E

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: ENSMUST00000031607
SMART Domains Protein: ENSMUSP00000031607
Gene: ENSMUSG00000029603

DomainStartEndE-ValueType
WWE 23 102 1.29e-38 SMART
WWE 104 179 3.88e-33 SMART
low complexity region 226 251 N/A INTRINSIC
low complexity region 258 290 N/A INTRINSIC
low complexity region 367 384 N/A INTRINSIC
low complexity region 387 397 N/A INTRINSIC
RING 418 478 5.82e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154759
Predicted Effect possibly damaging
Transcript: ENSMUST00000156722
AA Change: D721E

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123266
Gene: ENSMUSG00000029602
AA Change: D721E

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 noncoding transcript
Transcript: ENSMUST00000201264
Meta Mutation Damage Score 0.1219 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 96% (75/78)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A C 1: 53,221,025 (GRCm39) D68E possibly damaging Het
Abca3 T C 17: 24,618,954 (GRCm39) V870A possibly damaging Het
Aldh3a2 A T 11: 61,139,885 (GRCm39) F416I probably damaging Het
Armc6 A T 8: 70,678,098 (GRCm39) L77Q possibly damaging Het
Asb17 A G 3: 153,556,570 (GRCm39) I226V probably benign Het
Aspm A G 1: 139,396,406 (GRCm39) I862V probably benign Het
Atr T A 9: 95,753,502 (GRCm39) D701E probably damaging Het
Baz1b C T 5: 135,247,097 (GRCm39) L849F possibly damaging Het
Cbr1 T C 16: 93,405,677 (GRCm39) V97A probably benign Het
Cep295 G A 9: 15,243,306 (GRCm39) Q1669* probably null Het
Cfap54 T C 10: 92,820,089 (GRCm39) T1242A possibly damaging Het
Chrm3 T A 13: 9,928,350 (GRCm39) T229S possibly damaging Het
Cimip4 C A 15: 78,270,474 (GRCm39) R98M probably damaging Het
Cnga3 A G 1: 37,300,066 (GRCm39) Y300C probably damaging Het
Col14a1 A C 15: 55,251,975 (GRCm39) I544L unknown Het
Crocc T C 4: 140,752,776 (GRCm39) E1208G probably damaging Het
Cyp2j8 A T 4: 96,358,713 (GRCm39) probably benign Het
Dcbld2 T C 16: 58,285,713 (GRCm39) I624T possibly damaging Het
Ddah1 A C 3: 145,597,227 (GRCm39) I258L probably benign Het
Dnah6 G A 6: 73,026,114 (GRCm39) Q3460* probably null Het
Dync2h1 T A 9: 7,140,911 (GRCm39) D1372V probably damaging Het
Egln1 G A 8: 125,674,980 (GRCm39) R272* probably null Het
Elf1 A G 14: 79,804,620 (GRCm39) D95G possibly damaging Het
Fkbp5 A G 17: 28,621,729 (GRCm39) F374L probably damaging Het
Fli1 T C 9: 32,372,540 (GRCm39) probably benign Het
Gabbr2 T C 4: 46,846,436 (GRCm39) T158A probably damaging Het
Gp2 A C 7: 119,049,302 (GRCm39) Y412D probably damaging Het
Hmcn1 A G 1: 150,610,283 (GRCm39) V1462A possibly damaging Het
Ide T C 19: 37,258,160 (GRCm39) probably null Het
Kalrn T C 16: 34,134,648 (GRCm39) K372R possibly damaging Het
Kcnj16 A G 11: 110,916,067 (GRCm39) D243G possibly damaging Het
Kif7 A G 7: 79,363,905 (GRCm39) M1T probably null Het
Klri2 A T 6: 129,709,174 (GRCm39) L226Q probably damaging Het
Kremen1 T C 11: 5,165,373 (GRCm39) probably null Het
Lama3 T C 18: 12,646,788 (GRCm39) probably benign Het
Lmln C A 16: 32,908,581 (GRCm39) R336S probably benign Het
Lrch4 T A 5: 137,635,818 (GRCm39) D266E probably benign Het
Lrrc28 C T 7: 67,209,677 (GRCm39) R174H probably damaging Het
Mib1 T A 18: 10,798,474 (GRCm39) D778E probably damaging Het
Msra T C 14: 64,360,775 (GRCm39) I125V possibly damaging Het
Or10c1 A G 17: 37,522,244 (GRCm39) F167L probably damaging Het
Or4k37 T A 2: 111,158,964 (GRCm39) S67T probably damaging Het
Or4p19 A T 2: 88,242,555 (GRCm39) V149E possibly damaging Het
Or52e18 A G 7: 104,609,747 (GRCm39) F64S probably damaging Het
Or6c75 C A 10: 129,337,491 (GRCm39) T246N probably damaging Het
Or8d23 A G 9: 38,841,955 (GRCm39) M163V possibly damaging Het
Pes1 T A 11: 3,926,824 (GRCm39) Y369N probably damaging Het
Pgam2 T C 11: 5,751,773 (GRCm39) D221G possibly damaging Het
Prl2c5 T C 13: 13,365,265 (GRCm39) V137A possibly damaging Het
Sass6 G T 3: 116,412,381 (GRCm39) E385D possibly damaging Het
Sema5a A G 15: 32,460,418 (GRCm39) R60G probably benign Het
Sesn1 T C 10: 41,779,762 (GRCm39) S399P probably damaging Het
Skic2 G A 17: 35,067,398 (GRCm39) L47F probably damaging Het
Slc10a2 C T 8: 5,141,755 (GRCm39) V210M probably damaging Het
Slc8a3 C T 12: 81,362,331 (GRCm39) G163S probably damaging Het
Sorbs2 T C 8: 46,212,234 (GRCm39) probably benign Het
Speer4f1 T C 5: 17,684,490 (GRCm39) W173R probably damaging Het
Spon2 C A 5: 33,374,108 (GRCm39) G92W probably damaging Het
Sycp2 A T 2: 178,037,009 (GRCm39) probably benign Het
Tfb1m A G 17: 3,605,241 (GRCm39) V84A probably damaging Het
Tmem18 G T 12: 30,637,198 (GRCm39) probably null Het
Tom1l1 A G 11: 90,547,210 (GRCm39) L290S possibly damaging Het
Tube1 T G 10: 39,021,711 (GRCm39) probably null Het
Ugt2b35 T A 5: 87,155,156 (GRCm39) probably null Het
Unc93b1 T A 19: 3,992,403 (GRCm39) Y269N probably benign Het
Usp16 T C 16: 87,259,030 (GRCm39) probably null Het
Vmn1r38 A T 6: 66,753,370 (GRCm39) S249T probably benign Het
Vmn1r42 T A 6: 89,821,733 (GRCm39) M279L possibly damaging Het
Zdhhc23 T A 16: 43,791,829 (GRCm39) T315S possibly damaging Het
Zfp472 T C 17: 33,194,900 (GRCm39) F12L probably benign Het
Zfr2 T C 10: 81,083,225 (GRCm39) S634P probably benign 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
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
R9258:Rasal1 UTSW 5 120,793,155 (GRCm39) missense possibly damaging 0.91
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'- GCAACAGGGTCAGGGTTCATGATG -3'
(R):5'- GCTGAAGCTCAGCAGAGTACAAAGC -3'

Sequencing Primer
(F):5'- AGGCTGGAACCCATGCAG -3'
(R):5'- ccccaagaccacataaaccag -3'
Posted On 2014-04-13