Incidental Mutation 'R5028:Rasgrp1'
| ID |
391494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgrp1
|
| Ensembl Gene |
ENSMUSG00000027347 |
| Gene Name |
RAS guanyl releasing protein 1 |
| Synonyms |
|
| MMRRC Submission |
042619-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.264)
|
| Stock # |
R5028 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
117110464-117173358 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 117132485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 116
(K116*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102534]
[ENSMUST00000172901]
[ENSMUST00000173252]
[ENSMUST00000173541]
[ENSMUST00000174770]
[ENSMUST00000178884]
|
| AlphaFold |
Q9Z1S3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000102534
AA Change: K116*
|
| SMART Domains |
Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: K116*
| 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 null
Transcript: ENSMUST00000172901
AA Change: K116*
|
| SMART Domains |
Protein: ENSMUSP00000133449
Gene: ENSMUSG00000027347
AA Change: K116*
| 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 null
Transcript: ENSMUST00000173252
AA Change: K116*
|
| SMART Domains |
Protein: ENSMUSP00000134592
Gene: ENSMUSG00000027347
AA Change: K116*
| 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 null
Transcript: ENSMUST00000173541
AA Change: K116*
|
| SMART Domains |
Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: K116*
| 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 null
Transcript: ENSMUST00000174770
AA Change: K116*
|
| SMART Domains |
Protein: ENSMUSP00000134167
Gene: ENSMUSG00000027347
AA Change: K116*
| 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
AA Change: K116*
|
| SMART Domains |
Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: K116*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
97% (62/64) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,104,356 (GRCm39) |
S777C |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,187,458 (GRCm39) |
|
probably null |
Het |
| Arhgap17 |
T |
A |
7: 122,893,896 (GRCm39) |
H508L |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,803,709 (GRCm39) |
|
probably null |
Het |
| Atp12a |
T |
C |
14: 56,624,435 (GRCm39) |
F961S |
probably damaging |
Het |
| B4galnt4 |
C |
A |
7: 140,647,975 (GRCm39) |
P497Q |
probably benign |
Het |
| Camsap1 |
A |
G |
2: 25,834,568 (GRCm39) |
S364P |
probably damaging |
Het |
| Ccdc150 |
C |
A |
1: 54,302,636 (GRCm39) |
D85E |
probably benign |
Het |
| Cdc45 |
A |
G |
16: 18,613,930 (GRCm39) |
Y291H |
probably benign |
Het |
| Comp |
A |
C |
8: 70,829,290 (GRCm39) |
N289T |
probably damaging |
Het |
| Cops3 |
T |
A |
11: 59,708,856 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
G |
A |
10: 43,874,208 (GRCm39) |
H967Y |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,039,090 (GRCm39) |
F2423I |
probably damaging |
Het |
| Dact1 |
C |
A |
12: 71,365,347 (GRCm39) |
C709* |
probably null |
Het |
| Dcxr |
T |
G |
11: 120,617,273 (GRCm39) |
Q90P |
probably damaging |
Het |
| Ell |
A |
G |
8: 71,043,349 (GRCm39) |
Y494C |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,727 (GRCm39) |
E333G |
possibly damaging |
Het |
| Eml2 |
T |
C |
7: 18,913,372 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
A |
15: 99,178,682 (GRCm39) |
M215L |
probably damaging |
Het |
| Gm17078 |
T |
A |
14: 51,848,699 (GRCm39) |
R13W |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hspa14 |
A |
G |
2: 3,499,206 (GRCm39) |
F196S |
possibly damaging |
Het |
| Ier5 |
A |
G |
1: 154,974,849 (GRCm39) |
S110P |
possibly damaging |
Het |
| Kif1a |
T |
A |
1: 92,982,049 (GRCm39) |
I793F |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,646,176 (GRCm39) |
I643T |
probably damaging |
Het |
| Map3k19 |
A |
T |
1: 127,750,969 (GRCm39) |
L794Q |
probably benign |
Het |
| Meox2 |
A |
T |
12: 37,158,935 (GRCm39) |
M36L |
probably benign |
Het |
| Mgat5b |
T |
A |
11: 116,875,855 (GRCm39) |
L693Q |
probably damaging |
Het |
| Mup4 |
T |
A |
4: 59,958,124 (GRCm39) |
E148V |
possibly damaging |
Het |
| Napb |
T |
C |
2: 148,545,057 (GRCm39) |
N162S |
possibly damaging |
Het |
| Nlgn2 |
T |
C |
11: 69,718,563 (GRCm39) |
D339G |
probably benign |
Het |
| Nucks1 |
C |
T |
1: 131,855,840 (GRCm39) |
R90C |
possibly damaging |
Het |
| Or11g7 |
T |
C |
14: 50,691,196 (GRCm39) |
V229A |
probably damaging |
Het |
| Or5an9 |
T |
A |
19: 12,187,518 (GRCm39) |
V196E |
possibly damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,739,723 (GRCm39) |
D24V |
probably damaging |
Het |
| Prpf4b |
C |
T |
13: 35,083,958 (GRCm39) |
P909L |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,269,133 (GRCm39) |
T324A |
possibly damaging |
Het |
| Slc24a4 |
G |
A |
12: 102,230,629 (GRCm39) |
G505R |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,702 (GRCm39) |
I112T |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,297,314 (GRCm39) |
S69G |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,458,447 (GRCm39) |
E429D |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,663,312 (GRCm39) |
D116G |
probably damaging |
Het |
| Tcea3 |
T |
A |
4: 135,985,246 (GRCm39) |
V154E |
possibly damaging |
Het |
| Tigd2 |
G |
A |
6: 59,188,205 (GRCm39) |
W357* |
probably null |
Het |
| Tmem177 |
T |
A |
1: 119,838,419 (GRCm39) |
T87S |
probably benign |
Het |
| Treh |
A |
T |
9: 44,594,186 (GRCm39) |
E144V |
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,764,124 (GRCm39) |
D243E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
| Vars2 |
A |
C |
17: 35,970,365 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
G |
A |
13: 22,659,530 (GRCm39) |
W248* |
probably null |
Het |
| Yap1 |
T |
C |
9: 8,001,690 (GRCm39) |
T99A |
probably benign |
Het |
| Zbtb8b |
C |
A |
4: 129,326,793 (GRCm39) |
C91F |
probably damaging |
Het |
| Zfp882 |
A |
G |
8: 72,668,498 (GRCm39) |
T442A |
possibly damaging |
Het |
| Zxdc |
G |
T |
6: 90,359,320 (GRCm39) |
G651C |
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 |
|
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 |
|
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'- CATCAGTGTGAGGAAGCCTACAC -3'
(R):5'- ACTGCCTAGTTATGCATACATCAG -3'
Sequencing Primer
(F):5'- CCTACACAAGGCTGGGAGG -3'
(R):5'- GACAAAAGGGATCTCTTTCTAACTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation