Incidental Mutation 'R1165:Rasgrp1'
ID100904
Institutional Source Beutler Lab
Gene Symbol Rasgrp1
Ensembl Gene ENSMUSG00000027347
Gene NameRAS guanyl releasing protein 1
Synonyms
MMRRC Submission 039238-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.256) question?
Stock #R1165 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location117279993-117343001 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 117284939 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 723 (F723I)
Ref Sequence ENSEMBL: ENSMUSP00000136423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102534] [ENSMUST00000172901] [ENSMUST00000173252] [ENSMUST00000173541] [ENSMUST00000174770] [ENSMUST00000178884]
Predicted Effect possibly damaging
Transcript: ENSMUST00000102534
AA Change: F723I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: F723I

DomainStartEndE-ValueType
RasGEFN 52 176 1.65e-33 SMART
RasGEF 201 437 1.64e-96 SMART
Pfam:EF-hand_5 474 499 3.2e-6 PFAM
Pfam:EF-hand_6 474 502 5e-6 PFAM
C1 542 591 5.77e-16 SMART
PDB:4L9U|B 740 791 2e-23 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000172901
SMART Domains Protein: ENSMUSP00000133449
Gene: ENSMUSG00000027347

DomainStartEndE-ValueType
RasGEFN 52 176 1.65e-33 SMART
RasGEF 201 437 1.64e-96 SMART
Pfam:EF-hand_6 442 467 1.2e-5 PFAM
C1 507 556 5.77e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173252
SMART Domains Protein: ENSMUSP00000134592
Gene: ENSMUSG00000027347

DomainStartEndE-ValueType
RasGEFN 52 176 1.65e-33 SMART
RasGEF 201 437 1.64e-96 SMART
Pfam:EF-hand_6 442 467 1.1e-5 PFAM
Pfam:C1_1 507 539 3.4e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000173541
AA Change: F688I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: F688I

DomainStartEndE-ValueType
RasGEFN 52 176 1.65e-33 SMART
RasGEF 201 437 1.64e-96 SMART
Pfam:EF-hand_5 441 464 1.6e-5 PFAM
Pfam:EF-hand_6 442 467 1.6e-5 PFAM
C1 507 556 5.77e-16 SMART
PDB:4L9U|B 705 756 2e-23 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000174770
SMART Domains Protein: ENSMUSP00000134167
Gene: ENSMUSG00000027347

DomainStartEndE-ValueType
RasGEFN 52 176 1.65e-33 SMART
RasGEF 201 437 1.64e-96 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000178884
AA Change: F723I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: F723I

DomainStartEndE-ValueType
RasGEFN 52 176 1.65e-33 SMART
RasGEF 201 437 1.64e-96 SMART
Pfam:EF-hand_5 474 499 3.2e-6 PFAM
C1 542 591 5.77e-16 SMART
PDB:4L9U|B 740 791 2e-23 PDB
Meta Mutation Damage Score 0.07 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for spontaneous and targeted null mutations exhibit a lymphoproliferative autoimmune syndrome in which T cells fail to activate Ras or proliferate after antigen exposure, defects in positive selection, and enlarged spleen and lymph nodes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1520401A03Rik A C 17: 23,710,515 probably benign Het
2210408I21Rik T G 13: 77,334,287 C1209G probably benign Het
Abcg2 C A 6: 58,678,300 L407I probably benign Het
Adtrp A G 13: 41,814,303 V56A probably damaging Het
Angptl6 T G 9: 20,878,308 N96T probably benign Het
Ank3 C A 10: 69,898,302 N780K possibly damaging Het
AU040320 A T 4: 126,823,640 probably benign Het
Best2 C T 8: 85,011,160 R202H probably benign Het
Bod1l A T 5: 41,821,053 S973T probably benign Het
Brca2 T A 5: 150,542,747 V1992E probably damaging Het
Casp8ap2 C T 4: 32,640,563 P539L probably benign Het
Ccr1 A T 9: 123,963,494 V333E possibly damaging Het
Celf5 A T 10: 81,471,338 V83E probably damaging Het
Col15a1 T C 4: 47,257,275 probably benign Het
Coro1b C A 19: 4,149,902 H81N probably damaging Het
Cwc22 A T 2: 77,903,898 S686T probably damaging Het
Cyp2d26 C A 15: 82,794,041 G45W probably damaging Het
Dysf T A 6: 84,067,069 N297K probably damaging Het
Edem1 T A 6: 108,851,253 L513Q probably damaging Het
Erich1 G A 8: 14,090,530 probably benign Het
Fam196b A G 11: 34,402,740 T261A probably benign Het
Fam91a1 T C 15: 58,430,669 V286A possibly damaging Het
Fdxr C A 11: 115,271,782 probably benign Het
Gas7 T C 11: 67,670,686 probably benign Het
Glb1l2 T C 9: 26,794,101 D151G probably damaging Het
Gm14410 A C 2: 177,193,489 Y327* probably null Het
H6pd A G 4: 149,995,956 I136T possibly damaging Het
Hectd1 A T 12: 51,764,164 probably benign Het
Hipk1 T C 3: 103,761,524 T519A possibly damaging Het
Hpd A G 5: 123,176,090 probably null Het
Olfr371 T A 8: 85,230,771 I92N probably damaging Het
Olfr809 A G 10: 129,776,433 D188G probably damaging Het
Pcdha11 A G 18: 37,007,704 probably benign Het
Pdgfrb T C 18: 61,064,002 I170T probably benign Het
Retnlg A G 16: 48,873,654 T58A possibly damaging Het
Rrs1 G A 1: 9,545,767 E82K probably damaging Het
Rtel1 A G 2: 181,334,939 K243E probably benign Het
Slc19a2 G A 1: 164,263,445 G274D probably damaging Het
Slc22a27 T C 19: 7,909,694 probably null Het
Slc6a1 T C 6: 114,311,829 F266L probably damaging Het
Snx25 T G 8: 46,035,715 I868L probably damaging Het
Spag16 A G 1: 69,996,877 I355V probably benign Het
Tmem198 A T 1: 75,479,932 probably benign Het
Traf3ip3 A C 1: 193,184,478 S349A probably damaging Het
Trim17 A G 11: 58,971,215 N358D possibly damaging Het
Trmu A G 15: 85,892,674 T196A probably damaging Het
Tsen2 A G 6: 115,561,435 Y291C probably damaging Het
Vps13d A G 4: 145,126,471 F2358L probably benign Het
Wnt2 T C 6: 17,989,947 H317R probably benign Het
Zfp120 A T 2: 150,119,929 V33E probably damaging Het
Zfp407 C T 18: 84,559,773 A1072T probably benign Het
Other mutations in Rasgrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Rasgrp1 APN 2 117305791 nonsense probably null
IGL00901:Rasgrp1 APN 2 117285130 missense probably damaging 0.96
IGL01083:Rasgrp1 APN 2 117285068 missense probably benign 0.22
IGL01325:Rasgrp1 APN 2 117298529 missense probably damaging 1.00
IGL01520:Rasgrp1 APN 2 117288663 missense probably damaging 1.00
IGL01776:Rasgrp1 APN 2 117286840 critical splice donor site probably null
IGL01780:Rasgrp1 APN 2 117284878 missense probably benign 0.00
IGL01859:Rasgrp1 APN 2 117289418 missense probably benign 0.00
IGL01892:Rasgrp1 APN 2 117293842 missense probably damaging 1.00
IGL02068:Rasgrp1 APN 2 117300578 splice site probably benign
IGL02684:Rasgrp1 APN 2 117282576 missense probably benign 0.03
grouper UTSW 2 117302004 nonsense probably null
Haddock UTSW 2 117291895 missense probably damaging 0.99
naejangsan UTSW 2 117291792 nonsense probably null
sea_bass UTSW 2 117282654 missense probably benign 0.02
venutian UTSW 2 117284929 nonsense probably null
R0067:Rasgrp1 UTSW 2 117294820 missense probably damaging 1.00
R0067:Rasgrp1 UTSW 2 117294820 missense probably damaging 1.00
R0538:Rasgrp1 UTSW 2 117284947 missense probably benign 0.42
R0786:Rasgrp1 UTSW 2 117300499 missense probably benign
R1068:Rasgrp1 UTSW 2 117282576 missense probably benign 0.03
R1491:Rasgrp1 UTSW 2 117282619 nonsense probably null
R1707:Rasgrp1 UTSW 2 117298547 missense probably damaging 1.00
R1869:Rasgrp1 UTSW 2 117290347 missense probably damaging 1.00
R2214:Rasgrp1 UTSW 2 117285165 missense probably damaging 0.98
R2425:Rasgrp1 UTSW 2 117289450 critical splice acceptor site probably null
R3236:Rasgrp1 UTSW 2 117291812 missense probably benign 0.00
R3915:Rasgrp1 UTSW 2 117288641 missense probably damaging 1.00
R4079:Rasgrp1 UTSW 2 117285029 missense probably benign 0.19
R4163:Rasgrp1 UTSW 2 117282654 missense probably benign 0.02
R4781:Rasgrp1 UTSW 2 117291709 missense probably benign 0.04
R4782:Rasgrp1 UTSW 2 117284875 missense probably benign 0.00
R5028:Rasgrp1 UTSW 2 117302004 nonsense probably null
R6019:Rasgrp1 UTSW 2 117291895 missense probably damaging 0.99
R6220:Rasgrp1 UTSW 2 117284929 nonsense probably null
R6294:Rasgrp1 UTSW 2 117291792 nonsense probably null
R6335:Rasgrp1 UTSW 2 117293870 missense probably damaging 0.99
R6948:Rasgrp1 UTSW 2 117298604 missense probably damaging 0.99
Predicted Primers
Posted On2014-01-15