Incidental Mutation 'R4079:Rasgrp1'
| ID |
316734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgrp1
|
| Ensembl Gene |
ENSMUSG00000027347 |
| Gene Name |
RAS guanyl releasing protein 1 |
| Synonyms |
|
| MMRRC Submission |
040976-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
R4079 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
117110464-117173358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117115510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 693
(S693P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102534]
[ENSMUST00000172901]
[ENSMUST00000173252]
[ENSMUST00000173541]
[ENSMUST00000174770]
[ENSMUST00000178884]
|
| AlphaFold |
Q9Z1S3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102534
AA Change: S693P
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: S693P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000133449
Gene: ENSMUSG00000027347
| 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 benign
Transcript: ENSMUST00000173252
|
| SMART Domains |
Protein: ENSMUSP00000134592
Gene: ENSMUSG00000027347
| 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 |
probably benign
Transcript: ENSMUST00000173541
AA Change: S658P
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: S658P
| 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 benign
Transcript: ENSMUST00000178884
AA Change: S693P
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: S693P
| 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 |
0.0645 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (73/75) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago3 |
C |
G |
4: 126,247,473 (GRCm39) |
|
probably null |
Het |
| Ankfy1 |
C |
A |
11: 72,580,835 (GRCm39) |
|
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,720,694 (GRCm39) |
N121K |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,886,588 (GRCm39) |
M1131V |
probably damaging |
Het |
| Arl5c |
A |
T |
11: 97,884,327 (GRCm39) |
I88N |
probably damaging |
Het |
| Armc9 |
A |
T |
1: 86,140,851 (GRCm39) |
|
probably benign |
Het |
| Bnc1 |
T |
C |
7: 81,623,508 (GRCm39) |
E573G |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,963,879 (GRCm39) |
T817A |
probably benign |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Cadm3 |
A |
G |
1: 173,169,236 (GRCm39) |
V293A |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
| Cbfa2t3 |
A |
G |
8: 123,374,434 (GRCm39) |
|
probably null |
Het |
| Ccdc18 |
C |
T |
5: 108,306,394 (GRCm39) |
Q270* |
probably null |
Het |
| Cdc45 |
A |
T |
16: 18,630,110 (GRCm39) |
V19D |
probably damaging |
Het |
| Cfap57 |
C |
A |
4: 118,456,194 (GRCm39) |
S500I |
probably benign |
Het |
| Cnga3 |
A |
T |
1: 37,280,946 (GRCm39) |
Q47L |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,661,226 (GRCm39) |
D89G |
probably benign |
Het |
| Cox16 |
A |
T |
12: 81,521,109 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,006,791 (GRCm39) |
N50S |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 37,986,636 (GRCm39) |
E1116D |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,198,328 (GRCm39) |
D1535G |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,544,905 (GRCm39) |
|
probably null |
Het |
| F13b |
T |
A |
1: 139,429,508 (GRCm39) |
F9I |
unknown |
Het |
| Fcer1a |
C |
T |
1: 173,052,920 (GRCm39) |
C36Y |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,892,120 (GRCm39) |
V318A |
probably damaging |
Het |
| Fzd9 |
A |
G |
5: 135,278,490 (GRCm39) |
V465A |
probably benign |
Het |
| Hbs1l |
T |
C |
10: 21,228,501 (GRCm39) |
V493A |
probably damaging |
Het |
| Hgs |
T |
A |
11: 120,373,874 (GRCm39) |
S723T |
probably benign |
Het |
| Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
| Kpna7 |
A |
G |
5: 144,942,737 (GRCm39) |
I83T |
possibly damaging |
Het |
| Llgl1 |
C |
A |
11: 60,601,110 (GRCm39) |
|
probably null |
Het |
| Lrig3 |
A |
C |
10: 125,845,656 (GRCm39) |
E695A |
probably damaging |
Het |
| Lrpap1 |
A |
G |
5: 35,253,381 (GRCm39) |
I261T |
possibly damaging |
Het |
| Mfn1 |
T |
G |
3: 32,596,998 (GRCm39) |
L152W |
probably damaging |
Het |
| Mog |
A |
G |
17: 37,323,302 (GRCm39) |
F212S |
probably damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,439,634 (GRCm39) |
N364S |
probably damaging |
Het |
| Mtmr3 |
C |
T |
11: 4,441,057 (GRCm39) |
R531Q |
probably damaging |
Het |
| Mx2 |
A |
G |
16: 97,357,236 (GRCm39) |
N443S |
probably damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,806,123 (GRCm39) |
Y323H |
probably damaging |
Het |
| Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,929,189 (GRCm39) |
V6145A |
probably benign |
Het |
| Or52x1 |
A |
T |
7: 104,853,228 (GRCm39) |
H107Q |
probably damaging |
Het |
| Or8u10 |
A |
G |
2: 85,915,656 (GRCm39) |
V155A |
possibly damaging |
Het |
| Patl1 |
C |
T |
19: 11,908,994 (GRCm39) |
A467V |
probably damaging |
Het |
| Pdss2 |
A |
T |
10: 43,278,518 (GRCm39) |
M342L |
probably benign |
Het |
| Phax |
A |
G |
18: 56,709,051 (GRCm39) |
N183S |
possibly damaging |
Het |
| Pnck |
A |
T |
X: 72,701,761 (GRCm39) |
V93E |
probably damaging |
Het |
| Prol1 |
A |
G |
5: 88,476,075 (GRCm39) |
N155S |
unknown |
Het |
| Ptprk |
G |
A |
10: 28,139,508 (GRCm39) |
V78I |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,526,021 (GRCm39) |
|
probably null |
Het |
| Ptprv |
A |
G |
1: 135,038,168 (GRCm39) |
|
noncoding transcript |
Het |
| Ranbp3l |
A |
G |
15: 9,060,838 (GRCm39) |
N233S |
probably damaging |
Het |
| Rapgefl1 |
A |
G |
11: 98,740,803 (GRCm39) |
T552A |
probably benign |
Het |
| Scyl2 |
A |
T |
10: 89,476,458 (GRCm39) |
M889K |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,085,934 (GRCm39) |
Q320* |
probably null |
Het |
| Slc12a1 |
A |
T |
2: 125,042,543 (GRCm39) |
N733I |
possibly damaging |
Het |
| Snap47 |
C |
T |
11: 59,319,377 (GRCm39) |
V254I |
probably benign |
Het |
| Speer4e2 |
A |
T |
5: 15,027,663 (GRCm39) |
L71Q |
probably damaging |
Het |
| St6galnac2 |
A |
T |
11: 116,572,724 (GRCm39) |
L244Q |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tjp2 |
A |
T |
19: 24,086,182 (GRCm39) |
V780E |
possibly damaging |
Het |
| Tns1 |
G |
A |
1: 74,034,467 (GRCm39) |
R192C |
probably damaging |
Het |
| Trav6-3 |
T |
C |
14: 53,667,537 (GRCm39) |
L3P |
possibly damaging |
Het |
| Ung |
G |
T |
5: 114,268,684 (GRCm39) |
|
probably null |
Het |
| Usp32 |
T |
A |
11: 84,930,055 (GRCm39) |
Y574F |
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 |
|
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 |
|
R7450: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'- TTACTTCAGCAAGAGAACTAAGGG -3'
(R):5'- AGAGATTGTGGACCACAGTG -3'
Sequencing Primer
(F):5'- GGCACCTGTTCCAGTTCTTG -3'
(R):5'- TTGTGGACCACAGTGAGGAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation