Incidental Mutation 'R6294:Rasgrp1'
ID |
508588 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasgrp1
|
Ensembl Gene |
ENSMUSG00000027347 |
Gene Name |
RAS guanyl releasing protein 1 |
Synonyms |
|
MMRRC Submission |
044406-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.264)
|
Stock # |
R6294 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
117110464-117173358 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 117122273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 372
(Y372*)
|
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: Y372*
|
SMART Domains |
Protein: ENSMUSP00000099593 Gene: ENSMUSG00000027347 AA Change: Y372*
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: ENSMUST00000172901
AA Change: Y372*
|
SMART Domains |
Protein: ENSMUSP00000133449 Gene: ENSMUSG00000027347 AA Change: Y372*
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: Y372*
|
SMART Domains |
Protein: ENSMUSP00000134592 Gene: ENSMUSG00000027347 AA Change: Y372*
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: Y372*
|
SMART Domains |
Protein: ENSMUSP00000134027 Gene: ENSMUSG00000027347 AA Change: Y372*
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: Y372*
|
SMART Domains |
Protein: ENSMUSP00000134167 Gene: ENSMUSG00000027347 AA Change: Y372*
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: Y372*
|
SMART Domains |
Protein: ENSMUSP00000136423 Gene: ENSMUSG00000027347 AA Change: Y372*
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
99% (71/72) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,631,440 (GRCm39) |
H579L |
probably benign |
Het |
Aldh2 |
G |
A |
5: 121,710,879 (GRCm39) |
Q8* |
probably null |
Het |
Ankdd1a |
G |
T |
9: 65,427,446 (GRCm39) |
H10Q |
probably benign |
Het |
Arpp21 |
A |
G |
9: 111,956,520 (GRCm39) |
F453L |
probably damaging |
Het |
Birc6 |
C |
A |
17: 74,996,252 (GRCm39) |
D4461E |
probably benign |
Het |
Cacna1b |
A |
T |
2: 24,609,069 (GRCm39) |
S411T |
possibly damaging |
Het |
Camk2g |
A |
G |
14: 20,815,017 (GRCm39) |
I203T |
probably damaging |
Het |
Cat |
A |
T |
2: 103,290,640 (GRCm39) |
C425S |
probably benign |
Het |
Ccdc34 |
A |
G |
2: 109,848,496 (GRCm39) |
D95G |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,630,946 (GRCm39) |
S305G |
probably null |
Het |
Cul7 |
T |
C |
17: 46,974,074 (GRCm39) |
I1453T |
probably benign |
Het |
Dlg1 |
T |
A |
16: 31,656,942 (GRCm39) |
I612N |
probably damaging |
Het |
Dync2h1 |
T |
G |
9: 7,084,986 (GRCm39) |
K561T |
probably benign |
Het |
Erbin |
T |
C |
13: 103,993,564 (GRCm39) |
T359A |
probably benign |
Het |
Far2 |
T |
A |
6: 148,058,980 (GRCm39) |
L222Q |
probably damaging |
Het |
Fbxw17 |
A |
G |
13: 50,577,839 (GRCm39) |
E114G |
probably benign |
Het |
Fryl |
A |
T |
5: 73,349,102 (GRCm39) |
|
probably benign |
Het |
Ggn |
A |
G |
7: 28,873,273 (GRCm39) |
D666G |
possibly damaging |
Het |
Hal |
G |
A |
10: 93,350,005 (GRCm39) |
|
probably null |
Het |
Htt |
A |
G |
5: 34,979,170 (GRCm39) |
D851G |
probably benign |
Het |
Ighv14-2 |
A |
T |
12: 113,958,218 (GRCm39) |
D74E |
probably benign |
Het |
Igkv5-43 |
G |
A |
6: 69,800,426 (GRCm39) |
S87L |
probably damaging |
Het |
Klhl29 |
A |
T |
12: 5,133,995 (GRCm39) |
F720I |
probably damaging |
Het |
Klk1b8 |
T |
A |
7: 43,602,196 (GRCm39) |
Y43N |
probably damaging |
Het |
Krtap20-1 |
T |
A |
16: 88,880,989 (GRCm39) |
Y7N |
unknown |
Het |
Lama4 |
T |
A |
10: 38,951,466 (GRCm39) |
F1070L |
probably damaging |
Het |
Map4 |
A |
G |
9: 109,831,814 (GRCm39) |
E98G |
possibly damaging |
Het |
Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
Mki67 |
A |
G |
7: 135,306,319 (GRCm39) |
M581T |
probably benign |
Het |
Mtss2 |
T |
A |
8: 111,453,960 (GRCm39) |
N43K |
possibly damaging |
Het |
Mylk3 |
T |
A |
8: 86,077,012 (GRCm39) |
I475F |
probably damaging |
Het |
Nat14 |
C |
T |
7: 4,927,073 (GRCm39) |
R82* |
probably null |
Het |
Nckap1 |
T |
C |
2: 80,371,858 (GRCm39) |
N324S |
probably benign |
Het |
Nemp1 |
C |
T |
10: 127,530,391 (GRCm39) |
T281M |
possibly damaging |
Het |
Nrg3 |
A |
T |
14: 38,119,196 (GRCm39) |
H425Q |
probably benign |
Het |
Omd |
T |
A |
13: 49,743,467 (GRCm39) |
N172K |
probably damaging |
Het |
Or10c1 |
T |
C |
17: 37,522,517 (GRCm39) |
T76A |
probably benign |
Het |
Or12d12 |
T |
A |
17: 37,610,444 (GRCm39) |
T290S |
probably benign |
Het |
Or4f62 |
A |
G |
2: 111,986,364 (GRCm39) |
I23V |
probably benign |
Het |
Or52a33 |
A |
G |
7: 103,288,798 (GRCm39) |
M183T |
probably damaging |
Het |
Or52r1c |
A |
T |
7: 102,734,874 (GRCm39) |
I45F |
probably benign |
Het |
Or5b123 |
T |
C |
19: 13,596,730 (GRCm39) |
V25A |
probably benign |
Het |
Orc1 |
T |
C |
4: 108,447,867 (GRCm39) |
I38T |
probably benign |
Het |
Oxct1 |
A |
G |
15: 4,172,304 (GRCm39) |
T457A |
possibly damaging |
Het |
Pcdh17 |
A |
T |
14: 84,715,108 (GRCm39) |
K924N |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,433,424 (GRCm39) |
I3435F |
probably damaging |
Het |
Psg20 |
C |
A |
7: 18,416,604 (GRCm39) |
V171F |
probably damaging |
Het |
Rab11fip2 |
A |
T |
19: 59,925,531 (GRCm39) |
S87T |
probably damaging |
Het |
Rabgap1l |
T |
C |
1: 160,059,419 (GRCm39) |
T237A |
probably benign |
Het |
Rell1 |
G |
T |
5: 64,097,048 (GRCm39) |
|
probably benign |
Het |
Rps14 |
A |
G |
18: 60,910,033 (GRCm39) |
K61E |
possibly damaging |
Het |
Rtl6 |
A |
G |
15: 84,441,321 (GRCm39) |
V25A |
possibly damaging |
Het |
Ryr2 |
G |
T |
13: 11,894,382 (GRCm39) |
S185R |
probably damaging |
Het |
Slc10a2 |
C |
T |
8: 5,141,621 (GRCm39) |
|
probably null |
Het |
Slc14a1 |
T |
A |
18: 78,153,273 (GRCm39) |
|
probably null |
Het |
Smad2 |
A |
T |
18: 76,422,233 (GRCm39) |
N215I |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,677,922 (GRCm39) |
N1473K |
probably benign |
Het |
Spag9 |
A |
G |
11: 93,984,311 (GRCm39) |
|
probably null |
Het |
Stk31 |
A |
C |
6: 49,394,278 (GRCm39) |
R213S |
probably benign |
Het |
Tmod4 |
A |
T |
3: 95,035,617 (GRCm39) |
Q255L |
probably benign |
Het |
Tnpo1 |
T |
A |
13: 99,027,282 (GRCm39) |
Y3F |
probably benign |
Het |
Tom1l1 |
A |
C |
11: 90,552,587 (GRCm39) |
Y206* |
probably null |
Het |
Tulp2 |
A |
G |
7: 45,164,116 (GRCm39) |
K36E |
probably damaging |
Het |
Tulp4 |
C |
T |
17: 6,252,094 (GRCm39) |
R282C |
probably damaging |
Het |
Unc5b |
A |
T |
10: 60,614,110 (GRCm39) |
N246K |
possibly damaging |
Het |
Ush2a |
C |
G |
1: 188,268,567 (GRCm39) |
S1674R |
possibly damaging |
Het |
Vmn1r224 |
T |
C |
17: 20,640,083 (GRCm39) |
I220T |
probably benign |
Het |
Vmn1r7 |
G |
C |
6: 57,001,404 (GRCm39) |
N285K |
probably benign |
Het |
Vmn2r83 |
C |
T |
10: 79,313,688 (GRCm39) |
P99S |
probably damaging |
Het |
Zbtb38 |
A |
G |
9: 96,569,282 (GRCm39) |
F601L |
probably benign |
Het |
Zc3h3 |
A |
T |
15: 75,681,417 (GRCm39) |
S555T |
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 |
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 |
|
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'- TATGAGAAGGAAAGCAGAATCCTCC -3'
(R):5'- CCAGTGACCGATCTGTTCTG -3'
Sequencing Primer
(F):5'- GGAAAGCAGAATCCTCCCTCCTC -3'
(R):5'- CAGTGACCGATCTGTTCTGCTTTG -3'
|
Posted On |
2018-03-15 |