Incidental Mutation 'R2425:Rasgrp1'
| ID |
250133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgrp1
|
| Ensembl Gene |
ENSMUSG00000027347 |
| Gene Name |
RAS guanyl releasing protein 1 |
| Synonyms |
|
| MMRRC Submission |
040387-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.264)
|
| Stock # |
R2425 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
117110464-117173358 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to G
at 117119931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102534]
[ENSMUST00000102534]
[ENSMUST00000172901]
[ENSMUST00000173252]
[ENSMUST00000173541]
[ENSMUST00000174770]
[ENSMUST00000178884]
[ENSMUST00000178884]
|
| AlphaFold |
Q9Z1S3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000102534
|
| SMART Domains |
Protein: ENSMUSP00000099593
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_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 null
Transcript: ENSMUST00000102534
|
| SMART Domains |
Protein: ENSMUSP00000099593
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_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
|
| SMART Domains |
Protein: ENSMUSP00000134027
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_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 null
Transcript: ENSMUST00000178884
|
| SMART Domains |
Protein: ENSMUSP00000136423
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_5
|
474 |
499 |
3.2e-6 |
PFAM |
|
C1
|
542 |
591 |
5.77e-16 |
SMART |
|
PDB:4L9U|B
|
740 |
791 |
2e-23 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000178884
|
| SMART Domains |
Protein: ENSMUSP00000136423
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_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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,959,033 (GRCm39) |
F621S |
probably damaging |
Het |
| Abcc10 |
A |
G |
17: 46,621,083 (GRCm39) |
Y976H |
probably damaging |
Het |
| Abhd6 |
T |
A |
14: 8,049,857 (GRCm38) |
N215K |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,015,474 (GRCm39) |
T479A |
probably damaging |
Het |
| Amacr |
A |
G |
15: 10,983,454 (GRCm39) |
Q88R |
possibly damaging |
Het |
| Ankrd11 |
T |
A |
8: 123,619,902 (GRCm39) |
I1317F |
possibly damaging |
Het |
| Ano3 |
C |
A |
2: 110,693,188 (GRCm39) |
A137S |
probably benign |
Het |
| Astn1 |
T |
G |
1: 158,407,236 (GRCm39) |
S562A |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,691,931 (GRCm39) |
Y119F |
probably damaging |
Het |
| CN725425 |
A |
C |
15: 91,130,058 (GRCm39) |
D307A |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,585,648 (GRCm39) |
Y1243C |
probably damaging |
Het |
| Cyp2c50 |
T |
C |
19: 40,078,292 (GRCm39) |
I50T |
probably benign |
Het |
| Dhrs9 |
A |
G |
2: 69,223,308 (GRCm39) |
K19E |
probably benign |
Het |
| Dnajb14 |
T |
G |
3: 137,598,666 (GRCm39) |
F135V |
probably null |
Het |
| Draxin |
T |
A |
4: 148,197,213 (GRCm39) |
T195S |
possibly damaging |
Het |
| Elane |
C |
T |
10: 79,723,610 (GRCm39) |
R192C |
probably benign |
Het |
| Fam171a2 |
A |
C |
11: 102,329,187 (GRCm39) |
I524S |
possibly damaging |
Het |
| Fbxo10 |
C |
T |
4: 45,051,642 (GRCm39) |
E490K |
possibly damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,230,602 (GRCm39) |
T704A |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 8,023,850 (GRCm39) |
D35V |
probably damaging |
Het |
| Galntl5 |
A |
G |
5: 25,425,079 (GRCm39) |
K366E |
probably damaging |
Het |
| Gas7 |
G |
A |
11: 67,534,121 (GRCm39) |
A74T |
probably benign |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Gldc |
T |
A |
19: 30,109,190 (GRCm39) |
N583Y |
probably damaging |
Het |
| Gpr161 |
T |
A |
1: 165,138,192 (GRCm39) |
S259R |
possibly damaging |
Het |
| Igfn1 |
T |
A |
1: 135,890,840 (GRCm39) |
T2387S |
probably damaging |
Het |
| Il3 |
A |
T |
11: 54,156,375 (GRCm39) |
V119D |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,301,417 (GRCm39) |
T822A |
possibly damaging |
Het |
| Jakmip1 |
C |
T |
5: 37,299,149 (GRCm39) |
Q790* |
probably null |
Het |
| Kcne1 |
A |
G |
16: 92,145,646 (GRCm39) |
I66T |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,380,966 (GRCm39) |
S609P |
probably benign |
Het |
| Or10d5 |
T |
C |
9: 39,861,137 (GRCm39) |
E310G |
probably null |
Het |
| Or2t48 |
A |
G |
11: 58,420,137 (GRCm39) |
I225T |
probably damaging |
Het |
| Or8k21 |
A |
G |
2: 86,144,739 (GRCm39) |
V297A |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,697,372 (GRCm39) |
S103T |
possibly damaging |
Het |
| Pla2g2a |
C |
A |
4: 138,560,229 (GRCm39) |
A24E |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pramel1 |
T |
G |
4: 143,125,036 (GRCm39) |
L320R |
probably damaging |
Het |
| Rad23b |
T |
A |
4: 55,385,438 (GRCm39) |
I325N |
probably damaging |
Het |
| Rbm12b1 |
T |
A |
4: 12,146,443 (GRCm39) |
I805N |
probably damaging |
Het |
| Shld2 |
A |
G |
14: 33,990,646 (GRCm39) |
S87P |
probably damaging |
Het |
| Slc12a9 |
G |
T |
5: 137,313,859 (GRCm39) |
A700E |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,982 (GRCm39) |
V54E |
probably damaging |
Het |
| Tmc8 |
A |
G |
11: 117,683,395 (GRCm39) |
D650G |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,270,001 (GRCm39) |
N1749K |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,701,594 (GRCm39) |
T810A |
probably benign |
Het |
| Wdr70 |
C |
A |
15: 7,916,840 (GRCm39) |
E526* |
probably null |
Het |
| Zfp935 |
G |
T |
13: 62,602,922 (GRCm39) |
Q93K |
probably benign |
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 |
|
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 |
|
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'- AAGCAGCTCTGTGTTCCCAG -3'
(R):5'- GTAAAGTGTGCCCAGGTCTC -3'
Sequencing Primer
(F):5'- TGTGTTCCCAGGCCCTG -3'
(R):5'- CTCTCCTAAGACTGGGTCATGATGAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation