Incidental Mutation 'R8692:Rasgrp1'
ID |
668415 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasgrp1
|
Ensembl Gene |
ENSMUSG00000027347 |
Gene Name |
RAS guanyl releasing protein 1 |
Synonyms |
|
MMRRC Submission |
068546-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.270)
|
Stock # |
R8692 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
117110464-117173358 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 117115353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 745
(T745I)
|
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: T745I
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099593 Gene: ENSMUSG00000027347 AA Change: T745I
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 damaging
Transcript: ENSMUST00000173541
AA Change: T710I
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134027 Gene: ENSMUSG00000027347 AA Change: T710I
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 damaging
Transcript: ENSMUST00000178884
AA Change: T745I
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136423 Gene: ENSMUSG00000027347 AA Change: T745I
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
C |
1: 71,327,874 (GRCm39) |
I1402S |
probably damaging |
Het |
Abca9 |
T |
C |
11: 110,032,409 (GRCm39) |
D736G |
probably benign |
Het |
Acy1 |
T |
C |
9: 106,310,377 (GRCm39) |
E377G |
probably damaging |
Het |
Apob |
G |
A |
12: 8,058,270 (GRCm39) |
V2251M |
probably damaging |
Het |
Arhgap23 |
C |
A |
11: 97,345,322 (GRCm39) |
T657K |
probably damaging |
Het |
Cabin1 |
T |
C |
10: 75,587,410 (GRCm39) |
K129R |
probably benign |
Het |
Cdh24 |
A |
T |
14: 54,875,793 (GRCm39) |
F259I |
probably benign |
Het |
Cops6 |
A |
G |
5: 138,162,083 (GRCm39) |
N307S |
probably benign |
Het |
Cyp4a31 |
G |
A |
4: 115,423,769 (GRCm39) |
V143M |
probably damaging |
Het |
Deaf1 |
A |
T |
7: 140,877,444 (GRCm39) |
I561K |
probably benign |
Het |
Dnah7a |
A |
C |
1: 53,472,175 (GRCm39) |
S3531A |
probably benign |
Het |
Dnajc14 |
T |
A |
10: 128,642,900 (GRCm39) |
I274N |
probably damaging |
Het |
Dnmt1 |
A |
G |
9: 20,853,077 (GRCm39) |
L48S |
probably damaging |
Het |
Efna4 |
A |
T |
3: 89,242,549 (GRCm39) |
I115N |
probably damaging |
Het |
Ermp1 |
T |
A |
19: 29,594,093 (GRCm39) |
L692F |
probably benign |
Het |
Fcho2 |
GT |
G |
13: 98,882,382 (GRCm39) |
|
probably null |
Het |
Fcsk |
A |
T |
8: 111,615,722 (GRCm39) |
C536S |
probably benign |
Het |
Fermt2 |
A |
T |
14: 45,742,099 (GRCm39) |
C82* |
probably null |
Het |
Gabra6 |
G |
T |
11: 42,210,537 (GRCm39) |
D61E |
probably damaging |
Het |
Gdpd4 |
T |
A |
7: 97,690,140 (GRCm39) |
S611T |
probably benign |
Het |
Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
Gm17430 |
G |
A |
18: 9,726,336 (GRCm39) |
A112V |
probably benign |
Het |
Gm2381 |
A |
T |
7: 42,472,071 (GRCm39) |
L2Q |
probably damaging |
Het |
Hif3a |
A |
T |
7: 16,788,701 (GRCm39) |
L90Q |
probably benign |
Het |
Irf3 |
C |
T |
7: 44,649,889 (GRCm39) |
Q168* |
probably null |
Het |
Krt82 |
T |
G |
15: 101,456,828 (GRCm39) |
D184A |
possibly damaging |
Het |
Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
Lrrc49 |
A |
G |
9: 60,594,445 (GRCm39) |
S28P |
probably damaging |
Het |
Mfsd11 |
T |
A |
11: 116,752,443 (GRCm39) |
N197K |
probably benign |
Het |
Mindy1 |
A |
G |
3: 95,199,587 (GRCm39) |
D243G |
probably damaging |
Het |
Mphosph9 |
A |
T |
5: 124,450,875 (GRCm39) |
W299R |
probably damaging |
Het |
Mst1r |
G |
T |
9: 107,792,050 (GRCm39) |
R862L |
possibly damaging |
Het |
Nasp |
T |
A |
4: 116,469,280 (GRCm39) |
|
probably null |
Het |
Ncapg2 |
T |
C |
12: 116,414,049 (GRCm39) |
I1073T |
probably damaging |
Het |
Nek2 |
A |
T |
1: 191,554,745 (GRCm39) |
K152N |
probably benign |
Het |
Neurod2 |
T |
C |
11: 98,218,960 (GRCm39) |
E68G |
probably benign |
Het |
Or1j4 |
A |
T |
2: 36,740,096 (GRCm39) |
I13F |
probably benign |
Het |
Or2w3b |
T |
C |
11: 58,623,595 (GRCm39) |
Y132C |
probably damaging |
Het |
P4ha3 |
T |
A |
7: 99,955,228 (GRCm39) |
I361N |
probably damaging |
Het |
Pcdh15 |
T |
A |
10: 74,289,805 (GRCm39) |
S875T |
possibly damaging |
Het |
Pde7b |
G |
T |
10: 20,423,639 (GRCm39) |
P79Q |
probably benign |
Het |
Phb2 |
G |
A |
6: 124,692,097 (GRCm39) |
A228T |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,225,971 (GRCm39) |
C888* |
probably null |
Het |
Pkhd1 |
A |
T |
1: 20,462,374 (GRCm39) |
L2060Q |
probably damaging |
Het |
Pms1 |
T |
C |
1: 53,246,052 (GRCm39) |
M496V |
probably benign |
Het |
Ppfibp1 |
C |
T |
6: 146,892,013 (GRCm39) |
T91I |
probably benign |
Het |
Ppp1r9b |
T |
C |
11: 94,891,077 (GRCm39) |
L557P |
probably damaging |
Het |
Ppp2r5c |
G |
T |
12: 110,489,032 (GRCm39) |
V68L |
probably benign |
Het |
Qrfp |
T |
A |
2: 31,698,797 (GRCm39) |
H45L |
probably benign |
Het |
Rnf144a |
G |
A |
12: 26,370,972 (GRCm39) |
T163I |
probably benign |
Het |
Sbsn |
A |
T |
7: 30,451,522 (GRCm39) |
H179L |
unknown |
Het |
Simc1 |
G |
A |
13: 54,673,193 (GRCm39) |
V514I |
probably benign |
Het |
Slc35d1 |
A |
G |
4: 103,047,051 (GRCm39) |
M249T |
|
Het |
Slfn4 |
T |
A |
11: 83,079,709 (GRCm39) |
H466Q |
possibly damaging |
Het |
Stab2 |
A |
T |
10: 86,808,794 (GRCm39) |
C172S |
probably damaging |
Het |
Tanc1 |
T |
C |
2: 59,673,989 (GRCm39) |
I1698T |
probably benign |
Het |
Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
Tiam2 |
A |
C |
17: 3,479,082 (GRCm39) |
D605A |
probably damaging |
Het |
Tmed4 |
A |
T |
11: 6,223,822 (GRCm39) |
D151E |
probably benign |
Het |
Trim62 |
A |
T |
4: 128,794,465 (GRCm39) |
I211F |
possibly damaging |
Het |
Ttpa |
A |
G |
4: 20,008,585 (GRCm39) |
D49G |
probably benign |
Het |
Usf3 |
T |
C |
16: 44,040,103 (GRCm39) |
S1528P |
probably benign |
Het |
Usp34 |
C |
T |
11: 23,379,325 (GRCm39) |
T1991I |
|
Het |
Vash1 |
G |
A |
12: 86,735,863 (GRCm39) |
V250M |
possibly damaging |
Het |
Vmn1r199 |
T |
C |
13: 22,567,809 (GRCm39) |
*368Q |
probably null |
Het |
Vmn1r74 |
A |
G |
7: 11,580,972 (GRCm39) |
T91A |
probably benign |
Het |
Vmn1r8 |
T |
C |
6: 57,013,557 (GRCm39) |
F203L |
probably benign |
Het |
Vmn2r13 |
G |
T |
5: 109,319,514 (GRCm39) |
Q489K |
probably benign |
Het |
Vmn2r-ps158 |
G |
T |
7: 42,697,108 (GRCm39) |
A722S |
probably benign |
Het |
Zfp385b |
A |
T |
2: 77,549,971 (GRCm39) |
V38E |
probably damaging |
Het |
Zfp820 |
A |
G |
17: 22,037,876 (GRCm39) |
I484T |
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 |
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 |
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'- TGACTTAGATGACCTGTATTTGGC -3'
(R):5'- AAACAGAATCGTTCCCGTGG -3'
Sequencing Primer
(F):5'- GATGACCTGTATTTGGCAACTTTC -3'
(R):5'- TTGGTGGCGAGACGACC -3'
|
Posted On |
2021-04-30 |