Incidental Mutation 'IGL02710:Rasal1'
ID304529
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 #IGL02710
Quality Score
Status
Chromosome5
Chromosomal Location120648812-120679597 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 120666431 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 456 (H456L)
Ref Sequence ENSEMBL: ENSMUSP00000123266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031606] [ENSMUST00000156722]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031606
AA Change: H456L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031606
Gene: ENSMUSG00000029602
AA Change: H456L

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: H456L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123266
Gene: ENSMUSG00000029602
AA Change: H456L

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox2 T G 1: 58,334,769 probably null Het
Col18a1 G A 10: 77,113,312 A122V possibly damaging Het
Dtnb T A 12: 3,648,380 H289Q possibly damaging Het
Fat4 A T 3: 38,890,595 K1212N probably damaging Het
Gm10392 T C 11: 77,518,468 H44R possibly damaging Het
Herc2 G A 7: 56,137,814 A1740T possibly damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Knl1 A C 2: 119,070,930 E1037D probably damaging Het
Lsg1 A T 16: 30,571,474 D274E probably benign Het
Msantd3 A G 4: 48,552,686 K92E probably damaging Het
Nap1l4 G A 7: 143,524,261 T312I probably benign Het
Nlrp3 A G 11: 59,565,976 E988G probably damaging Het
Olfr744 C T 14: 50,618,798 T192I probably benign Het
Palm3 C T 8: 84,028,312 T151I possibly damaging Het
Pde1b T C 15: 103,522,057 W144R probably damaging Het
Piezo2 A G 18: 63,074,659 L1427P probably damaging Het
Sec16a C T 2: 26,430,130 G1432D possibly damaging Het
Shc1 A G 3: 89,424,610 probably null Het
Skint5 T A 4: 113,477,959 I1452F unknown Het
Slc35b4 C A 6: 34,158,541 V279L probably benign Het
Snx9 T C 17: 5,908,598 V283A probably damaging Het
Stra6l T C 4: 45,882,728 F480L possibly damaging Het
Stt3a A G 9: 36,758,745 Y132H probably damaging Het
Sv2c T A 13: 95,989,141 I363F probably damaging Het
Tnfrsf21 C T 17: 43,087,929 T642I probably damaging Het
Tubgcp2 G A 7: 140,004,984 probably benign Het
Usp47 A G 7: 112,092,925 N845D probably benign Het
Wdr20 A T 12: 110,793,110 probably benign Het
Wdr63 A T 3: 146,048,148 I719N possibly damaging Het
Zfp518b A G 5: 38,672,718 V648A probably damaging Het
Zfp687 A T 3: 95,008,773 S927T probably benign 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
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
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
X0057:Rasal1 UTSW 5 120664512 critical splice donor site probably null
Posted On2015-04-16