Incidental Mutation 'IGL00909:Rasal1'
ID27395
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 #IGL00909
Quality Score
Status
Chromosome5
Chromosomal Location120648812-120679597 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120664807 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 376 (E376G)
Ref Sequence ENSEMBL: ENSMUSP00000123266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031606] [ENSMUST00000156722]
Predicted Effect probably damaging
Transcript: ENSMUST00000031606
AA Change: E376G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031606
Gene: ENSMUSG00000029602
AA Change: E376G

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 damaging
Transcript: ENSMUST00000156722
AA Change: E376G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123266
Gene: ENSMUSG00000029602
AA Change: E376G

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,308,952 D94V possibly damaging Het
9330182L06Rik A T 5: 9,380,282 D64V probably damaging Het
Adamts20 T C 15: 94,379,813 Y256C probably damaging Het
Ampd1 A C 3: 103,088,428 D218A probably benign Het
Arcn1 T C 9: 44,751,354 N332D probably damaging Het
Arpp21 T A 9: 112,176,123 I219F probably damaging Het
Bicra A T 7: 15,996,577 D5E possibly damaging Het
Birc2 A C 9: 7,833,665 W272G probably damaging Het
Cd2ap A T 17: 42,830,114 probably benign Het
Celsr1 G A 15: 85,922,235 R974W probably damaging Het
Col4a2 A C 8: 11,448,167 T1659P possibly damaging Het
Coq9 C T 8: 94,851,902 L215F possibly damaging Het
Cped1 A G 6: 22,122,427 probably benign Het
Gga3 T A 11: 115,591,741 R105W probably damaging Het
Gm996 A G 2: 25,579,407 L164P probably damaging Het
Hmcn1 C T 1: 150,638,869 R3584Q probably benign Het
Hs6st3 T A 14: 119,139,034 L207Q probably damaging Het
Ift43 A G 12: 86,162,033 E141G probably damaging Het
Mrps31 T G 8: 22,427,825 F287V probably damaging Het
Naca A G 10: 128,041,682 probably benign Het
Nrf1 C T 6: 30,098,478 T135M probably damaging Het
Olfr510 A G 7: 108,667,700 I95V possibly damaging Het
Pfas A T 11: 69,003,814 Y8* probably null Het
Ppip5k1 G A 2: 121,347,358 R323W probably damaging Het
Rfc1 A G 5: 65,279,699 L546P probably benign Het
Rheb A T 5: 24,807,075 I129N probably damaging Het
Scpep1 A T 11: 88,952,477 F52I probably damaging Het
Six2 A T 17: 85,687,891 L21Q probably damaging Het
Slit1 G T 19: 41,602,255 T1326K possibly damaging Het
Spata2l T C 8: 123,233,977 D191G possibly damaging Het
Susd4 C A 1: 182,891,987 A389D probably damaging Het
Tcaf2 A T 6: 42,624,576 F850I probably damaging Het
Teddm1b T C 1: 153,874,645 S67P probably damaging Het
Tiparp T A 3: 65,532,109 V100D probably damaging Het
Zdhhc14 A G 17: 5,752,792 H390R probably benign Het
Other mutations in Rasal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01700:Rasal1 APN 5 120676817 missense probably benign 0.06
IGL01790:Rasal1 APN 5 120670318 missense possibly damaging 0.61
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 On2013-04-17