Incidental Mutation 'IGL01790:Rasal1'
ID155173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasal1
Ensembl Gene ENSMUSG00000029602
Gene NameRAS protein activator like 1 (GAP1 like)
SynonymsMRASAL
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL01790
Quality Score
Status
Chromosome5
Chromosomal Location120648812-120679597 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120670318 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 472 (F472L)
Ref Sequence ENSEMBL: ENSMUSP00000123266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031606] [ENSMUST00000156722]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031606
AA Change: F472L

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031606
Gene: ENSMUSG00000029602
AA Change: F472L

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 possibly damaging
Transcript: ENSMUST00000156722
AA Change: F472L

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123266
Gene: ENSMUSG00000029602
AA Change: F472L

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik C A 5: 15,656,886 probably benign Het
Arhgap8 A C 15: 84,767,214 I288L possibly damaging Het
Astn1 T C 1: 158,580,327 I618T possibly damaging Het
Bod1l T C 5: 41,832,250 S377G probably benign Het
Disp2 A T 2: 118,790,880 S698C probably damaging Het
Ehbp1l1 A G 19: 5,722,984 V43A probably damaging Het
Eml5 G T 12: 98,798,932 T1539K probably damaging Het
Fmnl2 T C 2: 53,118,368 I824T probably damaging Het
Gpr75 T G 11: 30,891,132 N12K probably damaging Het
Hap1 C T 11: 100,351,906 probably null Het
Helz2 A C 2: 181,238,481 Y481D probably benign Het
Klhl3 T C 13: 58,009,422 probably null Het
Lrcol1 A G 5: 110,354,207 S49G probably damaging Het
Magi3 A G 3: 104,085,244 M304T probably damaging Het
Med13l T C 5: 118,593,522 W88R probably damaging Het
Nfatc1 A G 18: 80,667,042 V503A probably damaging Het
Ntm C A 9: 29,411,590 V45L probably benign Het
Olfr1184 T A 2: 88,486,926 S65T possibly damaging Het
Olfr1186 A G 2: 88,526,423 N280S probably damaging Het
Olfr1313 T A 2: 112,071,921 I221L probably benign Het
Olfr1471 A G 19: 13,445,162 D50G probably damaging Het
Olfr19 T C 16: 16,673,103 R293G probably damaging Het
Pias4 T C 10: 81,157,498 Q197R probably damaging Het
Pkhd1 T A 1: 20,558,671 H684L probably damaging Het
Psmb3 T A 11: 97,712,510 M183K probably damaging Het
Rpl3 A T 15: 80,079,860 probably benign Het
Scin A T 12: 40,063,257 D538E probably benign Het
Sdhb T C 4: 140,973,727 S165P probably benign Het
Slc43a2 C A 11: 75,545,751 probably null Het
Sparc C T 11: 55,407,215 probably null Het
Tcf25 A G 8: 123,393,236 E382G possibly damaging Het
Tmx3 G A 18: 90,511,334 probably null Het
Trim24 C T 6: 37,945,613 P452S probably benign Het
Vsig10 T A 5: 117,338,314 W278R probably damaging Het
Other mutations in Rasal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Rasal1 APN 5 120664807 missense probably damaging 1.00
IGL01700:Rasal1 APN 5 120676817 missense probably benign 0.06
IGL01866:Rasal1 APN 5 120675423 missense probably damaging 1.00
IGL02143:Rasal1 APN 5 120652852 missense probably damaging 1.00
IGL02527:Rasal1 APN 5 120666404 missense probably damaging 0.98
IGL02565:Rasal1 APN 5 120676780 splice site probably benign
IGL02710:Rasal1 APN 5 120666431 missense possibly damaging 0.71
PIT4618001:Rasal1 UTSW 5 120670376 missense probably damaging 0.99
R0270:Rasal1 UTSW 5 120674729 missense probably damaging 0.97
R0281:Rasal1 UTSW 5 120674605 missense probably benign
R0673:Rasal1 UTSW 5 120670384 missense probably benign 0.26
R1227:Rasal1 UTSW 5 120670307 missense probably damaging 0.99
R1475:Rasal1 UTSW 5 120662982 missense possibly damaging 0.55
R1486:Rasal1 UTSW 5 120654852 missense probably damaging 1.00
R1557:Rasal1 UTSW 5 120676849 missense possibly damaging 0.87
R1651:Rasal1 UTSW 5 120652845 nonsense probably null
R1792:Rasal1 UTSW 5 120664756 missense probably benign 0.06
R2148:Rasal1 UTSW 5 120662031 missense probably damaging 0.97
R2964:Rasal1 UTSW 5 120671620 missense probably damaging 0.99
R2966:Rasal1 UTSW 5 120671620 missense probably damaging 0.99
R2983:Rasal1 UTSW 5 120654862 missense probably benign 0.45
R4090:Rasal1 UTSW 5 120675609 missense possibly damaging 0.95
R4205:Rasal1 UTSW 5 120659563 missense probably benign 0.21
R4643:Rasal1 UTSW 5 120678964 missense probably benign 0.05
R4979:Rasal1 UTSW 5 120678676 missense probably benign
R5171:Rasal1 UTSW 5 120663764 missense probably benign
R5187:Rasal1 UTSW 5 120675395 missense probably benign 0.13
R5877:Rasal1 UTSW 5 120679070 utr 3 prime probably benign
R5924:Rasal1 UTSW 5 120675517 missense probably damaging 1.00
R6037:Rasal1 UTSW 5 120649501 missense possibly damaging 0.55
R6037:Rasal1 UTSW 5 120649501 missense possibly damaging 0.55
R6136:Rasal1 UTSW 5 120675478 missense possibly damaging 0.84
R6159:Rasal1 UTSW 5 120659608 missense probably damaging 1.00
R6292:Rasal1 UTSW 5 120659620 missense probably damaging 0.97
R6548:Rasal1 UTSW 5 120674725 missense probably benign 0.00
R7042:Rasal1 UTSW 5 120663960 splice site probably null
R7194:Rasal1 UTSW 5 120675492 missense probably benign
X0057:Rasal1 UTSW 5 120664512 critical splice donor site probably null
Posted On2014-02-04