Incidental Mutation 'R0057:Rasal3'
ID 16299
Institutional Source Beutler Lab
Gene Symbol Rasal3
Ensembl Gene ENSMUSG00000052142
Gene Name RAS protein activator like 3
Synonyms A430107D22Rik
MMRRC Submission 038351-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R0057 (G1)
Quality Score
Status Validated
Chromosome 17
Chromosomal Location 32609633-32622557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32610357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 977 (S977P)
Ref Sequence ENSEMBL: ENSMUSP00000123141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063824] [ENSMUST00000064694] [ENSMUST00000087703] [ENSMUST00000135618] [ENSMUST00000137458] [ENSMUST00000136375] [ENSMUST00000170603] [ENSMUST00000171728] [ENSMUST00000163107] [ENSMUST00000169280] [ENSMUST00000170617] [ENSMUST00000165912]
AlphaFold Q8C2K5
Predicted Effect probably benign
Transcript: ENSMUST00000063824
AA Change: S975P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064084
Gene: ENSMUSG00000052142
AA Change: S975P

DomainStartEndE-ValueType
low complexity region 57 72 N/A INTRINSIC
low complexity region 120 137 N/A INTRINSIC
PH 165 323 3.94e0 SMART
Blast:RasGAP 354 381 9e-8 BLAST
low complexity region 385 402 N/A INTRINSIC
RasGAP 433 755 2.03e-81 SMART
low complexity region 826 839 N/A INTRINSIC
coiled coil region 932 1013 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064694
SMART Domains Protein: ENSMUSP00000069443
Gene: ENSMUSG00000024050

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
ZnF_C2H2 74 96 8.67e-1 SMART
ZnF_C2H2 175 197 4.72e-2 SMART
ZnF_C2H2 348 370 1.67e-2 SMART
low complexity region 401 412 N/A INTRINSIC
low complexity region 439 458 N/A INTRINSIC
ZnF_C2H2 532 554 1.67e-2 SMART
low complexity region 576 588 N/A INTRINSIC
low complexity region 607 623 N/A INTRINSIC
ZnF_C2H2 702 724 1.41e0 SMART
low complexity region 784 793 N/A INTRINSIC
low complexity region 869 887 N/A INTRINSIC
ZnF_C2H2 901 927 1.06e2 SMART
low complexity region 936 956 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000087699
Predicted Effect probably benign
Transcript: ENSMUST00000087703
SMART Domains Protein: ENSMUSP00000084993
Gene: ENSMUSG00000024050

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
ZnF_C2H2 74 96 8.67e-1 SMART
ZnF_C2H2 175 197 4.72e-2 SMART
ZnF_C2H2 348 370 1.67e-2 SMART
low complexity region 401 412 N/A INTRINSIC
low complexity region 439 458 N/A INTRINSIC
ZnF_C2H2 531 553 1.67e-2 SMART
low complexity region 575 587 N/A INTRINSIC
low complexity region 606 622 N/A INTRINSIC
ZnF_C2H2 701 723 1.41e0 SMART
low complexity region 783 792 N/A INTRINSIC
low complexity region 868 886 N/A INTRINSIC
ZnF_C2H2 900 926 1.06e2 SMART
low complexity region 935 955 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134723
Predicted Effect probably benign
Transcript: ENSMUST00000135618
AA Change: S953P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116107
Gene: ENSMUSG00000052142
AA Change: S953P

DomainStartEndE-ValueType
low complexity region 35 50 N/A INTRINSIC
low complexity region 98 115 N/A INTRINSIC
PH 143 301 3.94e0 SMART
Blast:RasGAP 332 359 9e-8 BLAST
low complexity region 363 380 N/A INTRINSIC
RasGAP 411 733 2.03e-81 SMART
low complexity region 804 817 N/A INTRINSIC
coiled coil region 910 991 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137458
AA Change: S977P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123141
Gene: ENSMUSG00000052142
AA Change: S977P

DomainStartEndE-ValueType
low complexity region 35 50 N/A INTRINSIC
low complexity region 119 140 N/A INTRINSIC
PH 167 325 3.94e0 SMART
Blast:RasGAP 356 383 9e-8 BLAST
low complexity region 387 404 N/A INTRINSIC
RasGAP 435 757 2.03e-81 SMART
low complexity region 828 841 N/A INTRINSIC
coiled coil region 934 1015 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142203
Predicted Effect probably benign
Transcript: ENSMUST00000136375
SMART Domains Protein: ENSMUSP00000118738
Gene: ENSMUSG00000052142

DomainStartEndE-ValueType
low complexity region 35 50 N/A INTRINSIC
low complexity region 98 115 N/A INTRINSIC
PH 143 301 3.94e0 SMART
Blast:RasGAP 332 359 7e-8 BLAST
low complexity region 363 380 N/A INTRINSIC
Pfam:RasGAP 483 579 6.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170603
SMART Domains Protein: ENSMUSP00000128241
Gene: ENSMUSG00000024050

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171728
SMART Domains Protein: ENSMUSP00000130054
Gene: ENSMUSG00000024050

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163107
SMART Domains Protein: ENSMUSP00000127943
Gene: ENSMUSG00000024050

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169280
SMART Domains Protein: ENSMUSP00000129700
Gene: ENSMUSG00000024050

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170617
SMART Domains Protein: ENSMUSP00000130517
Gene: ENSMUSG00000024050

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165912
SMART Domains Protein: ENSMUSP00000127651
Gene: ENSMUSG00000024050

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
ZnF_C2H2 74 96 8.67e-1 SMART
Meta Mutation Damage Score 0.0581 question?
Coding Region Coverage
  • 1x: 90.1%
  • 3x: 87.8%
  • 10x: 82.7%
  • 20x: 75.7%
Validation Efficiency 89% (65/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the Ras GTPase-activating proteins (RasGAP) family and encodes a protein with pleckstrin homology (PH), C2, and Ras GTPase-activation protein (RasGAP) domains. This protein is localized near or at the plasma membrane when expressed exogenously. Reduced expression of this gene in some cell lines resulted in increased levels of the active form of Ras (Ras-GTP), suggesting that this gene may play a role in negatively regulating the Ras signaling pathway. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced NT T cells in the liver, increased granulocytes in the bone marrow and decreased susceptibility to alpha-GalCer-induced liver injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,832,385 (GRCm39) F1309L possibly damaging Het
Abcc6 C T 7: 45,669,567 (GRCm39) A163T probably benign Het
Adam23 T A 1: 63,610,078 (GRCm39) H693Q probably damaging Het
Afg3l2 A G 18: 67,556,156 (GRCm39) F392L probably damaging Het
Ak9 A T 10: 41,268,724 (GRCm39) T1055S probably benign Het
Ap5z1 T C 5: 142,456,144 (GRCm39) probably benign Het
Arhgef10l A G 4: 140,338,529 (GRCm39) probably benign Het
Bloc1s6 T A 2: 122,586,141 (GRCm39) probably benign Het
Caskin1 A G 17: 24,723,870 (GRCm39) N886S probably damaging Het
Celsr1 A C 15: 85,914,963 (GRCm39) S1003R probably benign Het
Ctse G T 1: 131,591,109 (GRCm39) D97Y probably damaging Het
Cux1 T A 5: 136,285,136 (GRCm39) I505F probably damaging Het
Dcaf11 T C 14: 55,806,767 (GRCm39) V490A probably benign Het
Dscam A C 16: 96,474,936 (GRCm39) W1209G probably damaging Het
Emc8 A G 8: 121,385,822 (GRCm39) probably benign Het
Entpd6 A G 2: 150,600,748 (GRCm39) K152R probably null Het
Eps8l2 C T 7: 140,922,884 (GRCm39) T49I probably benign Het
Fcsk C T 8: 111,620,400 (GRCm39) probably benign Het
Gm12251 C A 11: 58,283,867 (GRCm39) probably benign Het
Gna11 A G 10: 81,366,774 (GRCm39) M312T probably benign Het
Hacd2 T A 16: 34,895,997 (GRCm39) V105D probably damaging Het
Il17a T A 1: 20,803,881 (GRCm39) I92N probably damaging Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Irak4 A C 15: 94,451,753 (GRCm39) R115S probably benign Het
Jarid2 C T 13: 45,038,332 (GRCm39) H77Y probably damaging Het
Kcnk6 A T 7: 28,925,088 (GRCm39) L176Q probably damaging Het
Kmt2b A T 7: 30,276,217 (GRCm39) probably benign Het
Kremen2 A C 17: 23,962,202 (GRCm39) I210S possibly damaging Het
Ldah T C 12: 8,288,432 (GRCm39) probably benign Het
Lgals9 A T 11: 78,862,262 (GRCm39) probably benign Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mfsd4b4 T A 10: 39,891,097 (GRCm38) probably benign Het
Msh4 C T 3: 153,575,318 (GRCm39) A686T probably benign Het
Mycbp2 T C 14: 103,389,578 (GRCm39) N3411D probably damaging Het
Myt1l A G 12: 29,892,611 (GRCm39) probably null Het
Nmbr A G 10: 14,636,268 (GRCm39) N79S probably damaging Het
Npsr1 A T 9: 24,211,723 (GRCm39) I84F probably damaging Het
Or52h1 G T 7: 103,829,536 (GRCm39) H26Q probably benign Het
Or5m10b C A 2: 85,699,597 (GRCm39) Y220* probably null Het
Or6z5 T C 7: 6,477,679 (GRCm39) L190P probably damaging Het
Prlr A G 15: 10,328,509 (GRCm39) Y328C probably damaging Het
Ros1 C T 10: 52,056,287 (GRCm39) V68I probably benign Het
Shmt2 G A 10: 127,356,917 (GRCm39) T31M possibly damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Snrnp200 C G 2: 127,079,827 (GRCm39) L1899V probably damaging Het
Snrnp48 T A 13: 38,400,356 (GRCm39) C154* probably null Het
Tdrd6 G A 17: 43,928,052 (GRCm39) probably benign Het
Tmem175 C T 5: 108,787,428 (GRCm39) H92Y probably damaging Het
Tom1l1 G A 11: 90,575,975 (GRCm39) probably benign Het
Top3a C T 11: 60,631,510 (GRCm39) A951T probably benign Het
Tram2 C T 1: 21,076,378 (GRCm39) R184Q probably damaging Het
Trpc4ap T C 2: 155,482,406 (GRCm39) E528G possibly damaging Het
Vwa7 G A 17: 35,243,523 (GRCm39) S710N possibly damaging Het
Zfa-ps A T 10: 52,421,202 (GRCm39) noncoding transcript Het
Zfp770 T A 2: 114,027,713 (GRCm39) R119* probably null Het
Other mutations in Rasal3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Rasal3 APN 17 32,616,379 (GRCm39) missense possibly damaging 0.89
IGL02291:Rasal3 APN 17 32,612,711 (GRCm39) unclassified probably benign
IGL02346:Rasal3 APN 17 32,618,323 (GRCm39) missense probably damaging 1.00
IGL02422:Rasal3 APN 17 32,617,947 (GRCm39) missense probably benign 0.11
Beaten UTSW 17 32,610,318 (GRCm39) missense probably benign 0.05
bent UTSW 17 32,615,755 (GRCm39) missense probably damaging 1.00
bowed UTSW 17 32,615,764 (GRCm39) missense probably damaging 1.00
kinked UTSW 17 32,615,324 (GRCm39) nonsense probably null
whipped UTSW 17 32,612,502 (GRCm39) frame shift probably null
R0133:Rasal3 UTSW 17 32,622,357 (GRCm39) start codon destroyed probably null 0.89
R0180:Rasal3 UTSW 17 32,618,379 (GRCm39) missense probably benign
R0403:Rasal3 UTSW 17 32,611,764 (GRCm39) splice site probably null
R0452:Rasal3 UTSW 17 32,614,791 (GRCm39) splice site probably benign
R0600:Rasal3 UTSW 17 32,612,500 (GRCm39) missense probably damaging 0.99
R0760:Rasal3 UTSW 17 32,611,146 (GRCm39) missense probably benign 0.00
R1438:Rasal3 UTSW 17 32,612,509 (GRCm39) splice site probably null
R1669:Rasal3 UTSW 17 32,622,072 (GRCm39) missense possibly damaging 0.81
R1914:Rasal3 UTSW 17 32,615,324 (GRCm39) nonsense probably null
R1928:Rasal3 UTSW 17 32,616,327 (GRCm39) missense probably damaging 1.00
R2002:Rasal3 UTSW 17 32,612,585 (GRCm39) missense probably damaging 1.00
R3053:Rasal3 UTSW 17 32,622,413 (GRCm39) missense probably benign 0.03
R3770:Rasal3 UTSW 17 32,611,125 (GRCm39) missense probably damaging 0.99
R3870:Rasal3 UTSW 17 32,612,522 (GRCm39) missense possibly damaging 0.94
R4491:Rasal3 UTSW 17 32,610,359 (GRCm39) missense probably damaging 0.99
R4783:Rasal3 UTSW 17 32,615,755 (GRCm39) missense probably damaging 1.00
R4788:Rasal3 UTSW 17 32,618,312 (GRCm39) missense probably benign 0.00
R4903:Rasal3 UTSW 17 32,616,357 (GRCm39) missense probably damaging 1.00
R5185:Rasal3 UTSW 17 32,615,764 (GRCm39) missense probably damaging 1.00
R5372:Rasal3 UTSW 17 32,610,318 (GRCm39) missense probably benign 0.05
R5433:Rasal3 UTSW 17 32,612,575 (GRCm39) missense probably benign 0.00
R5472:Rasal3 UTSW 17 32,615,643 (GRCm39) missense probably damaging 1.00
R5920:Rasal3 UTSW 17 32,614,143 (GRCm39) missense probably damaging 1.00
R6436:Rasal3 UTSW 17 32,616,478 (GRCm39) missense probably damaging 1.00
R6837:Rasal3 UTSW 17 32,622,044 (GRCm39) missense probably benign 0.17
R7047:Rasal3 UTSW 17 32,615,458 (GRCm39) missense probably damaging 1.00
R7109:Rasal3 UTSW 17 32,611,683 (GRCm39) missense probably damaging 1.00
R7179:Rasal3 UTSW 17 32,611,391 (GRCm39) missense probably damaging 0.99
R7571:Rasal3 UTSW 17 32,614,835 (GRCm39) missense possibly damaging 0.76
R7768:Rasal3 UTSW 17 32,615,767 (GRCm39) missense probably damaging 0.96
R7874:Rasal3 UTSW 17 32,615,681 (GRCm39) missense possibly damaging 0.75
R8155:Rasal3 UTSW 17 32,616,381 (GRCm39) missense possibly damaging 0.93
R8265:Rasal3 UTSW 17 32,614,794 (GRCm39) critical splice donor site probably null
R8544:Rasal3 UTSW 17 32,611,093 (GRCm39) missense probably benign
R8677:Rasal3 UTSW 17 32,615,828 (GRCm39) missense probably benign 0.03
R8695:Rasal3 UTSW 17 32,611,736 (GRCm39) missense possibly damaging 0.93
R9037:Rasal3 UTSW 17 32,614,094 (GRCm39) missense probably benign 0.01
R9307:Rasal3 UTSW 17 32,612,502 (GRCm39) frame shift probably null
R9417:Rasal3 UTSW 17 32,615,441 (GRCm39) missense probably benign 0.13
R9486:Rasal3 UTSW 17 32,617,910 (GRCm39) missense probably benign 0.07
R9712:Rasal3 UTSW 17 32,615,536 (GRCm39) missense probably damaging 0.99
RF004:Rasal3 UTSW 17 32,610,081 (GRCm39) missense probably damaging 1.00
X0027:Rasal3 UTSW 17 32,611,500 (GRCm39) missense probably benign 0.00
X0027:Rasal3 UTSW 17 32,610,193 (GRCm39) missense probably damaging 1.00
X0065:Rasal3 UTSW 17 32,622,260 (GRCm39) missense probably damaging 1.00
Z1177:Rasal3 UTSW 17 32,618,284 (GRCm39) missense probably benign 0.06
Posted On 2013-01-20