Incidental Mutation 'R0786:Rasgrp1'
ID |
76838 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasgrp1
|
Ensembl Gene |
ENSMUSG00000027347 |
Gene Name |
RAS guanyl releasing protein 1 |
Synonyms |
|
MMRRC Submission |
038966-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.264)
|
Stock # |
R0786 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
117110464-117173358 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 117130980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 155
(D155E)
|
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: D155E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099593 Gene: ENSMUSG00000027347 AA Change: D155E
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 |
noncoding transcript
Transcript: ENSMUST00000110898
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172901
AA Change: D155E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133449 Gene: ENSMUSG00000027347 AA Change: D155E
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: D155E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134592 Gene: ENSMUSG00000027347 AA Change: D155E
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: D155E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134027 Gene: ENSMUSG00000027347 AA Change: D155E
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: D155E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134167 Gene: ENSMUSG00000027347 AA Change: D155E
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: D155E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000136423 Gene: ENSMUSG00000027347 AA Change: D155E
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: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 92.6%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adrb3 |
T |
C |
8: 27,716,880 (GRCm39) |
|
probably benign |
Het |
Atg2b |
T |
C |
12: 105,602,767 (GRCm39) |
H1592R |
probably benign |
Het |
Bpifb1 |
C |
T |
2: 154,044,581 (GRCm39) |
A16V |
probably benign |
Het |
Cep57 |
T |
A |
9: 13,721,166 (GRCm39) |
Y271F |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,803,397 (GRCm39) |
N1548K |
possibly damaging |
Het |
Chrna6 |
A |
T |
8: 27,898,408 (GRCm39) |
D103E |
probably benign |
Het |
Clec12b |
T |
C |
6: 129,357,651 (GRCm39) |
N69S |
probably benign |
Het |
Col27a1 |
T |
C |
4: 63,209,815 (GRCm39) |
|
probably null |
Het |
Cwh43 |
T |
A |
5: 73,565,526 (GRCm39) |
Y30* |
probably null |
Het |
Dnai7 |
A |
G |
6: 145,127,483 (GRCm39) |
|
probably null |
Het |
Dsg4 |
T |
C |
18: 20,582,429 (GRCm39) |
|
probably null |
Het |
Efna3 |
T |
C |
3: 89,223,880 (GRCm39) |
N103S |
probably damaging |
Het |
Efr3a |
A |
G |
15: 65,725,400 (GRCm39) |
D532G |
possibly damaging |
Het |
Fam227a |
A |
T |
15: 79,510,469 (GRCm39) |
V395D |
probably benign |
Het |
Fes |
T |
A |
7: 80,036,668 (GRCm39) |
D93V |
probably damaging |
Het |
Gbp3 |
T |
A |
3: 142,276,732 (GRCm39) |
M510K |
possibly damaging |
Het |
Gpr12 |
A |
T |
5: 146,520,314 (GRCm39) |
S44T |
probably damaging |
Het |
Gpr179 |
T |
C |
11: 97,234,100 (GRCm39) |
N583S |
probably damaging |
Het |
Hipk1 |
T |
C |
3: 103,651,620 (GRCm39) |
T1093A |
probably benign |
Het |
Hspb1 |
T |
C |
5: 135,918,097 (GRCm39) |
L148P |
probably damaging |
Het |
Kirrel3 |
A |
G |
9: 34,946,161 (GRCm39) |
N640S |
probably damaging |
Het |
Mak |
G |
T |
13: 41,199,545 (GRCm39) |
Q365K |
probably benign |
Het |
Melk |
A |
G |
4: 44,303,649 (GRCm39) |
Y14C |
unknown |
Het |
Myh7 |
T |
C |
14: 55,230,330 (GRCm39) |
M1V |
probably null |
Het |
Nsmf |
A |
G |
2: 24,950,522 (GRCm39) |
Y330C |
probably damaging |
Het |
Parp14 |
A |
G |
16: 35,661,172 (GRCm39) |
F1592S |
possibly damaging |
Het |
Pnpla6 |
A |
T |
8: 3,573,317 (GRCm39) |
I394F |
probably benign |
Het |
Ppl |
T |
C |
16: 4,906,918 (GRCm39) |
R1126G |
probably damaging |
Het |
Prss8 |
C |
T |
7: 127,525,646 (GRCm39) |
R291Q |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Recql5 |
T |
C |
11: 115,786,628 (GRCm39) |
I563V |
probably benign |
Het |
Rhbg |
C |
T |
3: 88,151,875 (GRCm39) |
M394I |
probably benign |
Het |
Rnf130 |
A |
G |
11: 49,978,264 (GRCm39) |
D275G |
probably damaging |
Het |
Smg9 |
T |
C |
7: 24,120,289 (GRCm39) |
F421S |
probably benign |
Het |
Tgm2 |
T |
C |
2: 157,966,301 (GRCm39) |
E451G |
probably damaging |
Het |
Tle1 |
T |
A |
4: 72,117,598 (GRCm39) |
T21S |
probably damaging |
Het |
Tmc5 |
T |
C |
7: 118,226,433 (GRCm39) |
I266T |
possibly damaging |
Het |
Tmigd3 |
T |
A |
3: 105,824,318 (GRCm39) |
C96S |
probably damaging |
Het |
Trdn |
A |
T |
10: 33,181,077 (GRCm39) |
T361S |
probably benign |
Het |
Vgll3 |
A |
T |
16: 65,657,568 (GRCm39) |
Q261L |
probably benign |
Het |
Vmn2r104 |
A |
T |
17: 20,262,987 (GRCm39) |
I158K |
probably benign |
Het |
Zfp964 |
A |
G |
8: 70,116,731 (GRCm39) |
K444E |
possibly 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 |
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 |
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'- TTCTAAAGAGACCCTAGCCCAGACG -3'
(R):5'- AAGCCTGCTAGATGGTTTTCTTCCC -3'
Sequencing Primer
(F):5'- AGACGCAGGCTTTCAGTTTC -3'
(R):5'- GCTATGGGACAAATCTCACTCTG -3'
|
Posted On |
2013-10-16 |