Incidental Mutation 'R4781:Rasgrp1'
ID |
366472 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasgrp1
|
Ensembl Gene |
ENSMUSG00000027347 |
Gene Name |
RAS guanyl releasing protein 1 |
Synonyms |
|
MMRRC Submission |
042415-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.264)
|
Stock # |
R4781 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
117110464-117173358 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 117122190 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 400
(A400V)
|
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: A400V
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000099593 Gene: ENSMUSG00000027347 AA Change: A400V
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: A400V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000133449 Gene: ENSMUSG00000027347 AA Change: A400V
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
AA Change: A400V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000134592 Gene: ENSMUSG00000027347 AA Change: A400V
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: A400V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000134027 Gene: ENSMUSG00000027347 AA Change: A400V
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
AA Change: A400V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000134167 Gene: ENSMUSG00000027347 AA Change: A400V
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: A400V
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000136423 Gene: ENSMUSG00000027347 AA Change: A400V
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 |
0.0580 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (74/74) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
T |
A |
7: 27,271,076 (GRCm39) |
I157N |
probably damaging |
Het |
Adgrl3 |
T |
C |
5: 81,908,571 (GRCm39) |
Y1165H |
probably damaging |
Het |
Adra2a |
A |
G |
19: 54,034,926 (GRCm39) |
D94G |
probably damaging |
Het |
Akr1c20 |
T |
A |
13: 4,558,174 (GRCm39) |
K197* |
probably null |
Het |
Ankrd65 |
C |
T |
4: 155,877,493 (GRCm39) |
H335Y |
possibly damaging |
Het |
Axin2 |
T |
A |
11: 108,834,682 (GRCm39) |
L636Q |
probably damaging |
Het |
Camk1g |
G |
T |
1: 193,038,652 (GRCm39) |
T90N |
probably benign |
Het |
Cd177 |
C |
A |
7: 24,450,051 (GRCm39) |
C528F |
probably damaging |
Het |
Cntnap5a |
A |
T |
1: 116,339,931 (GRCm39) |
D730V |
possibly damaging |
Het |
Crtap |
T |
C |
9: 114,215,304 (GRCm39) |
D195G |
probably benign |
Het |
Csn1s2b |
A |
G |
5: 87,966,952 (GRCm39) |
S74G |
possibly damaging |
Het |
Cyp3a16 |
T |
C |
5: 145,392,922 (GRCm39) |
R128G |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,464,367 (GRCm39) |
F3675L |
probably benign |
Het |
Dram2 |
T |
A |
3: 106,478,992 (GRCm39) |
W195R |
probably damaging |
Het |
E130308A19Rik |
C |
T |
4: 59,691,057 (GRCm39) |
P297L |
probably benign |
Het |
Eif3i |
T |
C |
4: 129,489,066 (GRCm39) |
S83G |
probably benign |
Het |
Gabra1 |
G |
A |
11: 42,024,488 (GRCm39) |
P396S |
probably damaging |
Het |
Gipr |
T |
A |
7: 18,891,300 (GRCm39) |
Y459F |
possibly damaging |
Het |
Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
Gm6981 |
T |
C |
9: 51,914,056 (GRCm39) |
|
noncoding transcript |
Het |
Grin2d |
T |
C |
7: 45,511,905 (GRCm39) |
D180G |
probably damaging |
Het |
Hectd4 |
T |
G |
5: 121,444,170 (GRCm39) |
|
probably null |
Het |
Hhat |
T |
C |
1: 192,369,287 (GRCm39) |
|
probably benign |
Het |
Hoxa6 |
A |
G |
6: 52,183,400 (GRCm39) |
L215P |
possibly damaging |
Het |
Hsf4 |
G |
A |
8: 106,001,384 (GRCm39) |
|
probably null |
Het |
Igf1r |
G |
A |
7: 67,814,947 (GRCm39) |
A283T |
possibly damaging |
Het |
Ighv15-2 |
A |
G |
12: 114,528,476 (GRCm39) |
S25P |
probably damaging |
Het |
Inpp5a |
C |
T |
7: 139,057,921 (GRCm39) |
T43I |
probably benign |
Het |
Kmt2c |
T |
A |
5: 25,648,823 (GRCm39) |
E82V |
probably damaging |
Het |
Lrrc31 |
A |
G |
3: 30,741,526 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
A |
G |
12: 66,844,396 (GRCm39) |
|
probably null |
Het |
Mefv |
G |
A |
16: 3,533,198 (GRCm39) |
P358S |
probably benign |
Het |
Mrgpra9 |
A |
G |
7: 46,884,795 (GRCm39) |
F291L |
possibly damaging |
Het |
Mtmr3 |
A |
G |
11: 4,438,435 (GRCm39) |
L673P |
probably benign |
Het |
Muc19 |
T |
C |
15: 91,787,360 (GRCm39) |
|
noncoding transcript |
Het |
Myo5b |
A |
T |
18: 74,877,752 (GRCm39) |
T1584S |
possibly damaging |
Het |
Or1x6 |
A |
T |
11: 50,939,307 (GRCm39) |
R124S |
probably damaging |
Het |
Or4z4 |
T |
C |
19: 12,076,731 (GRCm39) |
T91A |
probably benign |
Het |
Palld |
G |
T |
8: 62,330,062 (GRCm39) |
R272S |
probably benign |
Het |
Pcnx3 |
T |
A |
19: 5,737,158 (GRCm39) |
N144Y |
probably damaging |
Het |
Prf1 |
A |
G |
10: 61,136,203 (GRCm39) |
K160E |
probably damaging |
Het |
Rnf150 |
A |
G |
8: 83,590,781 (GRCm39) |
Y48C |
probably damaging |
Het |
Rpl11 |
G |
T |
4: 135,777,599 (GRCm39) |
Q170K |
probably benign |
Het |
Scin |
G |
A |
12: 40,131,763 (GRCm39) |
A257V |
possibly damaging |
Het |
Scn7a |
C |
A |
2: 66,534,104 (GRCm39) |
A524S |
possibly damaging |
Het |
Sim1 |
T |
C |
10: 50,859,881 (GRCm39) |
L581S |
probably benign |
Het |
Skor1 |
T |
C |
9: 63,051,741 (GRCm39) |
T715A |
probably benign |
Het |
Slc22a26 |
A |
G |
19: 7,767,500 (GRCm39) |
V301A |
probably benign |
Het |
Sorcs1 |
T |
C |
19: 50,171,119 (GRCm39) |
Y923C |
probably damaging |
Het |
Src |
T |
A |
2: 157,309,405 (GRCm39) |
M304K |
possibly damaging |
Het |
Srgap3 |
A |
T |
6: 112,734,386 (GRCm39) |
|
probably benign |
Het |
Stard3 |
G |
A |
11: 98,263,160 (GRCm39) |
E72K |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,070,340 (GRCm39) |
N2482I |
probably damaging |
Het |
Tbc1d23 |
T |
C |
16: 57,038,778 (GRCm39) |
K20R |
possibly damaging |
Het |
Tcstv4 |
A |
C |
13: 120,769,698 (GRCm39) |
K6T |
possibly damaging |
Het |
Tfip11 |
G |
A |
5: 112,481,265 (GRCm39) |
E414K |
probably damaging |
Het |
Tinag |
G |
T |
9: 76,904,232 (GRCm39) |
T397K |
possibly damaging |
Het |
Traf7 |
C |
G |
17: 24,729,412 (GRCm39) |
|
probably benign |
Het |
Trmt10b |
T |
A |
4: 45,305,817 (GRCm39) |
I164N |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,884,800 (GRCm39) |
D827G |
probably benign |
Het |
Ube2u |
A |
T |
4: 100,343,855 (GRCm39) |
T85S |
probably benign |
Het |
Ulk4 |
T |
C |
9: 120,932,642 (GRCm39) |
D1066G |
probably benign |
Het |
Vmn2r72 |
T |
A |
7: 85,387,069 (GRCm39) |
I832F |
probably benign |
Het |
Yipf1 |
A |
C |
4: 107,193,355 (GRCm39) |
E80D |
probably benign |
Het |
Zfp40 |
T |
A |
17: 23,394,629 (GRCm39) |
R653W |
probably damaging |
Het |
Zxdc |
A |
G |
6: 90,349,535 (GRCm39) |
T308A |
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 |
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'- AGGAGATGGTGGCTCTACTCTG -3'
(R):5'- TCTGGGCGAGATGACTGAAC -3'
Sequencing Primer
(F):5'- GCTCTACTCTGTAGCTAGTATATGAG -3'
(R):5'- AGATGACTGAACTGCTGTCC -3'
|
Posted On |
2015-12-21 |