Incidental Mutation 'R7450:Rasgrp1'
ID |
577620 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasgrp1
|
Ensembl Gene |
ENSMUSG00000027347 |
Gene Name |
RAS guanyl releasing protein 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.264)
|
Stock # |
R7450 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
117110464-117173358 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 117118424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 522
(I522V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136423
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102534]
[ENSMUST00000172901]
[ENSMUST00000173252]
[ENSMUST00000173541]
[ENSMUST00000174770]
[ENSMUST00000178884]
|
AlphaFold |
Q9Z1S3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102534
AA Change: I522V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000099593 Gene: ENSMUSG00000027347 AA Change: I522V
Domain | Start | End | E-Value | Type |
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
AA Change: I487V
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000133449 Gene: ENSMUSG00000027347 AA Change: I487V
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000173252
AA Change: I487V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000134592 Gene: ENSMUSG00000027347 AA Change: I487V
Domain | Start | End | E-Value | Type |
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: I487V
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000134027 Gene: ENSMUSG00000027347 AA Change: I487V
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
RasGEFN
|
52 |
176 |
1.65e-33 |
SMART |
RasGEF
|
201 |
437 |
1.64e-96 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178884
AA Change: I522V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000136423 Gene: ENSMUSG00000027347 AA Change: I522V
Domain | Start | End | E-Value | Type |
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 |
0.0955 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
A |
5: 113,331,977 (GRCm39) |
R746W |
possibly damaging |
Het |
Abcc2 |
T |
C |
19: 43,810,478 (GRCm39) |
L925P |
probably damaging |
Het |
Abcc3 |
A |
T |
11: 94,252,521 (GRCm39) |
H787Q |
probably damaging |
Het |
Acly |
A |
T |
11: 100,370,101 (GRCm39) |
V987E |
probably damaging |
Het |
Afg2a |
T |
C |
3: 37,510,934 (GRCm39) |
L697S |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,525,147 (GRCm39) |
Y1676* |
probably null |
Het |
Ccdc168 |
A |
G |
1: 44,097,933 (GRCm39) |
V1055A |
probably benign |
Het |
Ccdc175 |
T |
A |
12: 72,202,447 (GRCm39) |
I283F |
possibly damaging |
Het |
Cfap46 |
A |
T |
7: 139,197,353 (GRCm39) |
F2173I |
unknown |
Het |
Cln6 |
G |
A |
9: 62,757,912 (GRCm39) |
E224K |
probably damaging |
Het |
Cyp1a1 |
T |
A |
9: 57,609,415 (GRCm39) |
L372Q |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 31,006,165 (GRCm39) |
I3694N |
probably damaging |
Het |
Dnal1 |
T |
C |
12: 84,171,297 (GRCm39) |
Y31H |
probably benign |
Het |
Eid3 |
T |
A |
10: 82,702,737 (GRCm39) |
M66K |
probably benign |
Het |
Epo |
T |
A |
5: 137,481,497 (GRCm39) |
E143D |
probably damaging |
Het |
Fbxo25 |
C |
A |
8: 13,981,235 (GRCm39) |
N236K |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,782,024 (GRCm39) |
I266V |
probably benign |
Het |
Galnt6 |
T |
C |
15: 100,595,696 (GRCm39) |
Y444C |
probably damaging |
Het |
Gna11 |
T |
C |
10: 81,368,356 (GRCm39) |
Y160C |
|
Het |
Hectd4 |
A |
T |
5: 121,419,995 (GRCm39) |
T647S |
probably benign |
Het |
Hgd |
T |
C |
16: 37,444,686 (GRCm39) |
V316A |
possibly damaging |
Het |
Idh3a |
T |
C |
9: 54,503,367 (GRCm39) |
V142A |
probably damaging |
Het |
Il3ra |
T |
A |
14: 14,351,090 (GRCm38) |
I297N |
probably benign |
Het |
Kcnj5 |
T |
G |
9: 32,233,491 (GRCm39) |
I275L |
possibly damaging |
Het |
Kdm7a |
A |
T |
6: 39,120,185 (GRCm39) |
L928Q |
probably damaging |
Het |
Kmo |
A |
G |
1: 175,466,666 (GRCm39) |
I75V |
probably benign |
Het |
Krtap1-3 |
C |
A |
11: 99,481,697 (GRCm39) |
C150F |
unknown |
Het |
Lingo3 |
C |
A |
10: 80,670,671 (GRCm39) |
E420* |
probably null |
Het |
Lrrc37a |
A |
G |
11: 103,389,152 (GRCm39) |
V2091A |
probably benign |
Het |
N4bp2 |
T |
A |
5: 65,982,643 (GRCm39) |
Y1632* |
probably null |
Het |
Nlrp1a |
C |
A |
11: 70,998,484 (GRCm39) |
G905V |
probably damaging |
Het |
Nlrp9c |
T |
A |
7: 26,064,364 (GRCm39) |
E988V |
probably benign |
Het |
Nol8 |
T |
G |
13: 49,813,491 (GRCm39) |
H179Q |
probably benign |
Het |
Notch3 |
G |
A |
17: 32,360,365 (GRCm39) |
P1522L |
possibly damaging |
Het |
Nup210l |
T |
C |
3: 90,022,495 (GRCm39) |
|
probably null |
Het |
Oas1b |
T |
A |
5: 120,959,321 (GRCm39) |
Y234* |
probably null |
Het |
Or10al7 |
T |
C |
17: 38,366,000 (GRCm39) |
I152M |
probably benign |
Het |
Or12d17 |
C |
A |
17: 37,777,507 (GRCm39) |
Q137K |
probably benign |
Het |
Or12e14 |
A |
C |
2: 87,676,803 (GRCm39) |
K63Q |
probably damaging |
Het |
Or13c9 |
T |
A |
4: 52,936,113 (GRCm39) |
K57* |
probably null |
Het |
Or6c1b |
A |
C |
10: 129,273,298 (GRCm39) |
M206L |
probably benign |
Het |
Pag1 |
T |
C |
3: 9,764,599 (GRCm39) |
T185A |
probably damaging |
Het |
Palmd |
A |
T |
3: 116,721,292 (GRCm39) |
S100T |
probably damaging |
Het |
Papln |
C |
A |
12: 83,826,945 (GRCm39) |
A690E |
probably benign |
Het |
Pcdhga7 |
C |
T |
18: 37,849,079 (GRCm39) |
T362M |
probably benign |
Het |
Pmpcb |
T |
A |
5: 21,951,983 (GRCm39) |
V286E |
possibly damaging |
Het |
Pon3 |
T |
C |
6: 5,236,940 (GRCm39) |
I142M |
possibly damaging |
Het |
Prdx6 |
A |
G |
1: 161,069,386 (GRCm39) |
S194P |
probably benign |
Het |
Rapgef2 |
T |
C |
3: 79,080,366 (GRCm39) |
E112G |
probably benign |
Het |
Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rps6kb1 |
T |
A |
11: 86,393,657 (GRCm39) |
E491V |
probably benign |
Het |
Sema3d |
C |
T |
5: 12,634,901 (GRCm39) |
Q656* |
probably null |
Het |
Shisa6 |
A |
T |
11: 66,108,832 (GRCm39) |
D348E |
probably benign |
Het |
Slc16a7 |
G |
T |
10: 125,063,920 (GRCm39) |
H472Q |
probably benign |
Het |
Slc49a4 |
T |
C |
16: 35,589,344 (GRCm39) |
I90V |
possibly damaging |
Het |
Slc9a2 |
A |
G |
1: 40,720,995 (GRCm39) |
|
probably benign |
Het |
Smad4 |
A |
G |
18: 73,810,924 (GRCm39) |
V20A |
probably damaging |
Het |
Sstr3 |
G |
A |
15: 78,424,043 (GRCm39) |
R235W |
probably damaging |
Het |
Svep1 |
T |
A |
4: 58,064,248 (GRCm39) |
H3245L |
possibly damaging |
Het |
Tra2a |
G |
A |
6: 49,227,919 (GRCm39) |
R70* |
probably null |
Het |
Trav7-4 |
G |
T |
14: 53,698,924 (GRCm39) |
V24L |
probably benign |
Het |
Tsc2 |
C |
A |
17: 24,819,005 (GRCm39) |
S1278I |
probably damaging |
Het |
Ubtf |
A |
G |
11: 102,197,475 (GRCm39) |
S726P |
unknown |
Het |
Vmn2r42 |
A |
T |
7: 8,187,220 (GRCm39) |
Y851N |
probably benign |
Het |
Wwp1 |
A |
G |
4: 19,640,016 (GRCm39) |
Y509H |
probably damaging |
Het |
Xirp2 |
A |
C |
2: 67,340,159 (GRCm39) |
Q800P |
possibly damaging |
Het |
Zc3h7b |
T |
C |
15: 81,667,281 (GRCm39) |
F609L |
probably benign |
Het |
Zdhhc8 |
G |
T |
16: 18,043,035 (GRCm39) |
H388Q |
probably benign |
Het |
Zfp1004 |
A |
G |
2: 150,035,046 (GRCm39) |
T456A |
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,786,392 (GRCm39) |
K52E |
probably benign |
Het |
Zfp82 |
T |
G |
7: 29,756,320 (GRCm39) |
E254A |
probably damaging |
Het |
|
Other mutations in Rasgrp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00504:Rasgrp1
|
APN |
2 |
117,136,272 (GRCm39) |
nonsense |
probably null |
|
IGL00901:Rasgrp1
|
APN |
2 |
117,115,611 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01083:Rasgrp1
|
APN |
2 |
117,115,549 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01325:Rasgrp1
|
APN |
2 |
117,129,010 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01520:Rasgrp1
|
APN |
2 |
117,119,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01776:Rasgrp1
|
APN |
2 |
117,117,321 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01780:Rasgrp1
|
APN |
2 |
117,115,359 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01859:Rasgrp1
|
APN |
2 |
117,119,899 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01892:Rasgrp1
|
APN |
2 |
117,124,323 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02068:Rasgrp1
|
APN |
2 |
117,131,059 (GRCm39) |
splice site |
probably benign |
|
IGL02684:Rasgrp1
|
APN |
2 |
117,113,057 (GRCm39) |
missense |
probably benign |
0.03 |
bukhansan
|
UTSW |
2 |
117,122,178 (GRCm39) |
missense |
possibly damaging |
0.78 |
Commendatore
|
UTSW |
2 |
117,113,132 (GRCm39) |
missense |
probably benign |
0.03 |
dragged
|
UTSW |
2 |
117,129,026 (GRCm39) |
missense |
probably damaging |
1.00 |
grouper
|
UTSW |
2 |
117,132,485 (GRCm39) |
nonsense |
probably null |
|
Gyeryandsan
|
UTSW |
2 |
117,118,424 (GRCm39) |
missense |
probably damaging |
1.00 |
Haddock
|
UTSW |
2 |
117,122,376 (GRCm39) |
missense |
probably damaging |
0.99 |
jovial
|
UTSW |
2 |
117,119,158 (GRCm39) |
missense |
probably benign |
0.01 |
mercurial
|
UTSW |
2 |
117,118,314 (GRCm39) |
nonsense |
probably null |
|
naejangsan
|
UTSW |
2 |
117,122,273 (GRCm39) |
nonsense |
probably null |
|
sea_bass
|
UTSW |
2 |
117,113,135 (GRCm39) |
missense |
probably benign |
0.02 |
venutian
|
UTSW |
2 |
117,115,410 (GRCm39) |
nonsense |
probably null |
|
R0067:Rasgrp1
|
UTSW |
2 |
117,125,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R0067:Rasgrp1
|
UTSW |
2 |
117,125,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R0538:Rasgrp1
|
UTSW |
2 |
117,115,428 (GRCm39) |
missense |
probably benign |
0.42 |
R0786:Rasgrp1
|
UTSW |
2 |
117,130,980 (GRCm39) |
missense |
probably benign |
|
R1068:Rasgrp1
|
UTSW |
2 |
117,113,057 (GRCm39) |
missense |
probably benign |
0.03 |
R1165:Rasgrp1
|
UTSW |
2 |
117,115,420 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1491:Rasgrp1
|
UTSW |
2 |
117,113,100 (GRCm39) |
nonsense |
probably null |
|
R1707:Rasgrp1
|
UTSW |
2 |
117,129,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R1869:Rasgrp1
|
UTSW |
2 |
117,120,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R2214:Rasgrp1
|
UTSW |
2 |
117,115,646 (GRCm39) |
missense |
probably damaging |
0.98 |
R2425:Rasgrp1
|
UTSW |
2 |
117,119,931 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3236:Rasgrp1
|
UTSW |
2 |
117,122,293 (GRCm39) |
missense |
probably benign |
0.00 |
R3915:Rasgrp1
|
UTSW |
2 |
117,119,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R4079:Rasgrp1
|
UTSW |
2 |
117,115,510 (GRCm39) |
missense |
probably benign |
0.19 |
R4163:Rasgrp1
|
UTSW |
2 |
117,113,135 (GRCm39) |
missense |
probably benign |
0.02 |
R4781:Rasgrp1
|
UTSW |
2 |
117,122,190 (GRCm39) |
missense |
probably benign |
0.04 |
R4782:Rasgrp1
|
UTSW |
2 |
117,115,356 (GRCm39) |
missense |
probably benign |
0.00 |
R5028:Rasgrp1
|
UTSW |
2 |
117,132,485 (GRCm39) |
nonsense |
probably null |
|
R6019:Rasgrp1
|
UTSW |
2 |
117,122,376 (GRCm39) |
missense |
probably damaging |
0.99 |
R6220:Rasgrp1
|
UTSW |
2 |
117,115,410 (GRCm39) |
nonsense |
probably null |
|
R6294:Rasgrp1
|
UTSW |
2 |
117,122,273 (GRCm39) |
nonsense |
probably null |
|
R6335:Rasgrp1
|
UTSW |
2 |
117,124,351 (GRCm39) |
missense |
probably damaging |
0.99 |
R6948:Rasgrp1
|
UTSW |
2 |
117,129,085 (GRCm39) |
missense |
probably damaging |
0.99 |
R7165:Rasgrp1
|
UTSW |
2 |
117,168,885 (GRCm39) |
missense |
probably benign |
0.02 |
R7246:Rasgrp1
|
UTSW |
2 |
117,168,835 (GRCm39) |
nonsense |
probably null |
|
R7372:Rasgrp1
|
UTSW |
2 |
117,115,635 (GRCm39) |
missense |
probably benign |
0.01 |
R7400:Rasgrp1
|
UTSW |
2 |
117,129,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R7432:Rasgrp1
|
UTSW |
2 |
117,118,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R7448:Rasgrp1
|
UTSW |
2 |
117,122,178 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7448:Rasgrp1
|
UTSW |
2 |
117,118,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R7449:Rasgrp1
|
UTSW |
2 |
117,118,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R7475:Rasgrp1
|
UTSW |
2 |
117,116,589 (GRCm39) |
missense |
probably benign |
|
R7487:Rasgrp1
|
UTSW |
2 |
117,118,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R7573:Rasgrp1
|
UTSW |
2 |
117,118,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R7672:Rasgrp1
|
UTSW |
2 |
117,118,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R8016:Rasgrp1
|
UTSW |
2 |
117,118,314 (GRCm39) |
nonsense |
probably null |
|
R8199:Rasgrp1
|
UTSW |
2 |
117,124,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R8527:Rasgrp1
|
UTSW |
2 |
117,168,785 (GRCm39) |
missense |
probably benign |
0.07 |
R8692:Rasgrp1
|
UTSW |
2 |
117,115,353 (GRCm39) |
missense |
probably damaging |
0.97 |
R8725:Rasgrp1
|
UTSW |
2 |
117,119,158 (GRCm39) |
missense |
probably benign |
0.01 |
R8727:Rasgrp1
|
UTSW |
2 |
117,119,158 (GRCm39) |
missense |
probably benign |
0.01 |
R8880:Rasgrp1
|
UTSW |
2 |
117,115,425 (GRCm39) |
missense |
probably benign |
0.01 |
R9280:Rasgrp1
|
UTSW |
2 |
117,113,132 (GRCm39) |
missense |
probably benign |
0.03 |
R9675:Rasgrp1
|
UTSW |
2 |
117,173,190 (GRCm39) |
start codon destroyed |
probably benign |
0.00 |
R9792:Rasgrp1
|
UTSW |
2 |
117,118,429 (GRCm39) |
missense |
probably benign |
0.32 |
R9793:Rasgrp1
|
UTSW |
2 |
117,118,429 (GRCm39) |
missense |
probably benign |
0.32 |
R9795:Rasgrp1
|
UTSW |
2 |
117,118,429 (GRCm39) |
missense |
probably benign |
0.32 |
Z1176:Rasgrp1
|
UTSW |
2 |
117,132,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCTGAGCTGGAATGAGTG -3'
(R):5'- TTTGAGTCTCGAGCACACAC -3'
Sequencing Primer
(F):5'- ATGAAGATTTTGAGGCCATGACTG -3'
(R):5'- GTCTCGAGCACACACACATTTGG -3'
|
Posted On |
2019-10-07 |