Incidental Mutation 'R0067:Rasgrp1'
| ID |
17259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgrp1
|
| Ensembl Gene |
ENSMUSG00000027347 |
| Gene Name |
RAS guanyl releasing protein 1 |
| Synonyms |
|
| MMRRC Submission |
038358-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.264)
|
| Stock # |
R0067 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
117110464-117173358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 117125301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 246
(R246S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102534]
[ENSMUST00000172901]
[ENSMUST00000173252]
[ENSMUST00000173541]
[ENSMUST00000174770]
[ENSMUST00000178884]
|
| AlphaFold |
Q9Z1S3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102534
AA Change: R246S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: R246S
| 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 damaging
Transcript: ENSMUST00000172901
AA Change: R246S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133449
Gene: ENSMUSG00000027347
AA Change: R246S
| 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 damaging
Transcript: ENSMUST00000173252
AA Change: R246S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134592
Gene: ENSMUSG00000027347
AA Change: R246S
| 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 damaging
Transcript: ENSMUST00000173541
AA Change: R246S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: R246S
| 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 damaging
Transcript: ENSMUST00000174770
AA Change: R246S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134167
Gene: ENSMUSG00000027347
AA Change: R246S
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
52 |
176 |
1.65e-33 |
SMART |
|
RasGEF
|
201 |
437 |
1.64e-96 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178884
AA Change: R246S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: R246S
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 87.3%
- 3x: 82.3%
- 10x: 64.1%
- 20x: 35.8%
|
| Validation Efficiency |
96% (73/76) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
C |
T |
7: 28,610,995 (GRCm39) |
V248M |
possibly damaging |
Het |
| AW209491 |
A |
T |
13: 14,812,328 (GRCm39) |
I394F |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,796,967 (GRCm39) |
|
probably benign |
Het |
| Cacna1i |
A |
T |
15: 80,265,373 (GRCm39) |
I1542F |
probably damaging |
Het |
| Cep97 |
A |
T |
16: 55,735,924 (GRCm39) |
N291K |
possibly damaging |
Het |
| Clasp2 |
A |
T |
9: 113,689,209 (GRCm39) |
|
probably benign |
Het |
| Dennd1c |
T |
C |
17: 57,382,465 (GRCm39) |
Q67R |
probably damaging |
Het |
| Eva1c |
A |
T |
16: 90,663,305 (GRCm39) |
D13V |
possibly damaging |
Het |
| Fam151b |
T |
C |
13: 92,610,504 (GRCm39) |
K95R |
probably benign |
Het |
| Gm13941 |
T |
C |
2: 110,889,761 (GRCm39) |
|
noncoding transcript |
Het |
| Gps2 |
C |
T |
11: 69,805,607 (GRCm39) |
Q42* |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,312,132 (GRCm39) |
D1457E |
probably benign |
Het |
| L3mbtl1 |
A |
G |
2: 162,790,748 (GRCm39) |
K225E |
probably damaging |
Het |
| Limch1 |
A |
G |
5: 67,131,965 (GRCm39) |
S143G |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,369,041 (GRCm39) |
K342E |
possibly damaging |
Het |
| Mc5r |
T |
G |
18: 68,472,637 (GRCm39) |
M332R |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,063,060 (GRCm39) |
T882A |
probably benign |
Het |
| Mtrex |
C |
T |
13: 113,023,396 (GRCm39) |
V727I |
probably benign |
Het |
| Myf6 |
A |
T |
10: 107,329,340 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
C |
T |
6: 140,470,629 (GRCm39) |
T90I |
probably damaging |
Het |
| Ptbp2 |
T |
C |
3: 119,514,290 (GRCm39) |
T478A |
probably benign |
Het |
| Rflnb |
A |
T |
11: 75,912,987 (GRCm39) |
S134T |
possibly damaging |
Het |
| Rnf214 |
A |
G |
9: 45,778,796 (GRCm39) |
|
probably null |
Het |
| Satb1 |
T |
C |
17: 52,111,364 (GRCm39) |
T165A |
probably damaging |
Het |
| Scamp1 |
T |
C |
13: 94,340,658 (GRCm39) |
Y237C |
probably damaging |
Het |
| Skint10 |
A |
T |
4: 112,568,753 (GRCm39) |
F321L |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,745,188 (GRCm39) |
V672A |
probably benign |
Het |
| Spats2 |
C |
A |
15: 99,110,168 (GRCm39) |
P522T |
possibly damaging |
Het |
| Stkld1 |
A |
T |
2: 26,839,352 (GRCm39) |
E339D |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,960,872 (GRCm39) |
T241A |
probably damaging |
Het |
| Ticrr |
A |
T |
7: 79,327,158 (GRCm39) |
D622V |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,324,131 (GRCm39) |
V326A |
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,803,936 (GRCm39) |
T180A |
possibly damaging |
Het |
| Unc13a |
A |
C |
8: 72,087,302 (GRCm39) |
F1482V |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,025,777 (GRCm39) |
E388G |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,697,043 (GRCm39) |
D5167V |
probably damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,546,672 (GRCm39) |
H848L |
probably benign |
Het |
| Zcchc9 |
T |
C |
13: 91,945,368 (GRCm39) |
I72V |
probably benign |
Het |
| Zfc3h1 |
G |
T |
10: 115,259,379 (GRCm39) |
L1650F |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,134,040 (GRCm39) |
D366G |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-01-20 |
Incidental Mutation