Incidental Mutation 'IGL01859:Rasgrp1'
ID178237
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasgrp1
Ensembl Gene ENSMUSG00000027347
Gene NameRAS guanyl releasing protein 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.256) question?
Stock #IGL01859
Quality Score
Status
Chromosome2
Chromosomal Location117279993-117343001 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 117289418 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 452 (V452A)
Ref Sequence ENSEMBL: ENSMUSP00000136423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102534] [ENSMUST00000172901] [ENSMUST00000173252] [ENSMUST00000173541] [ENSMUST00000174770] [ENSMUST00000178884]
Predicted Effect probably benign
Transcript: ENSMUST00000102534
AA Change: V452A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: V452A

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 probably benign
Transcript: ENSMUST00000173541
SMART Domains Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347

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 probably benign
Transcript: ENSMUST00000178884
AA Change: V452A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: V452A

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
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 104,086,137 probably benign Het
Ak7 A G 12: 105,745,297 M398V probably null Het
Angptl3 C T 4: 99,037,432 R332* probably null Het
Ano7 A G 1: 93,394,446 Y392C probably damaging Het
Arpc1b T C 5: 145,123,730 F18L probably damaging Het
Cdc23 G T 18: 34,651,406 P73Q probably benign Het
Cdkl1 A C 12: 69,760,129 L111R probably damaging Het
Cntnap2 A G 6: 46,988,721 D822G probably damaging Het
Col6a5 G A 9: 105,930,961 R963* probably null Het
Crocc T C 4: 141,029,290 D1008G probably benign Het
Dntt G T 19: 41,037,304 M120I probably benign Het
Dock1 A G 7: 135,077,161 Y1003C possibly damaging Het
Fam178b T A 1: 36,659,365 R92W probably damaging Het
Fermt2 A G 14: 45,459,956 V646A possibly damaging Het
Foxc1 T C 13: 31,808,723 S506P unknown Het
Gm11127 A T 17: 36,058,011 M59K possibly damaging Het
Gtpbp1 T A 15: 79,719,140 V610E probably benign Het
Hsdl2 T C 4: 59,601,569 probably null Het
Itgb8 T A 12: 119,189,945 R278S probably damaging Het
Kcnh7 T A 2: 62,721,788 D953V probably benign Het
Med13 A T 11: 86,283,751 D1749E possibly damaging Het
Mocos G T 18: 24,666,660 probably benign Het
Pcdhb20 T G 18: 37,504,563 N47K probably damaging Het
Phf21a T A 2: 92,328,356 F227L probably damaging Het
Piezo2 T C 18: 63,092,844 E907G probably benign Het
Pla2g4e G T 2: 120,182,733 Q369K possibly damaging Het
Ppp3cb A G 14: 20,509,449 I413T probably damaging Het
Ptgis A G 2: 167,214,806 probably null Het
Rbms3 T A 9: 116,959,538 D105V probably damaging Het
Rnase1 C A 14: 51,145,803 Q31H probably benign Het
Rnase13 G T 14: 51,922,303 N126K probably damaging Het
Sema5b G T 16: 35,647,109 V248L possibly damaging Het
Serpinb12 G A 1: 106,953,834 probably null Het
Slc4a11 A T 2: 130,684,994 L738Q probably damaging Het
Spta1 A T 1: 174,174,372 I23F probably damaging Het
Stk-ps2 A T 1: 46,030,042 noncoding transcript Het
Tcp1 A G 17: 12,922,684 E350G possibly damaging Het
Tonsl T C 15: 76,634,780 K518E probably damaging Het
Trim34a A G 7: 104,260,942 E317G probably damaging Het
Trit1 A G 4: 123,049,551 S335G probably benign Het
Usp28 G T 9: 49,024,021 E91* probably null Het
Vmn2r56 A G 7: 12,716,005 L102P probably damaging Het
Wwtr1 A C 3: 57,477,517 L203R possibly damaging Het
Zfp110 T C 7: 12,849,540 V705A possibly damaging Het
Zfp955a T C 17: 33,243,719 N67S 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
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
R1165:Rasgrp1 UTSW 2 117284939 missense possibly damaging 0.49
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
Posted On2014-05-07