Incidental Mutation 'R7246:Rasgrp1'
ID |
563521 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasgrp1
|
Ensembl Gene |
ENSMUSG00000027347 |
Gene Name |
RAS guanyl releasing protein 1 |
Synonyms |
|
MMRRC Submission |
045309-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.264)
|
Stock # |
R7246 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
117110464-117173358 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 117168835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 48
(R48*)
|
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: R48*
|
SMART Domains |
Protein: ENSMUSP00000099593 Gene: ENSMUSG00000027347 AA Change: R48*
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: R48*
|
SMART Domains |
Protein: ENSMUSP00000133449 Gene: ENSMUSG00000027347 AA Change: R48*
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: R48*
|
SMART Domains |
Protein: ENSMUSP00000134592 Gene: ENSMUSG00000027347 AA Change: R48*
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: R48*
|
SMART Domains |
Protein: ENSMUSP00000134027 Gene: ENSMUSG00000027347 AA Change: R48*
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: R48*
|
SMART Domains |
Protein: ENSMUSP00000134167 Gene: ENSMUSG00000027347 AA Change: R48*
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: R48*
|
SMART Domains |
Protein: ENSMUSP00000136423 Gene: ENSMUSG00000027347 AA Change: R48*
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: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
97% (74/76) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,635,902 (GRCm39) |
S318R |
probably damaging |
Het |
Abce1 |
A |
T |
8: 80,429,698 (GRCm39) |
N74K |
probably damaging |
Het |
Akr1b7 |
T |
A |
6: 34,392,404 (GRCm39) |
D72E |
probably benign |
Het |
Amer3 |
T |
A |
1: 34,625,809 (GRCm39) |
I16N |
possibly damaging |
Het |
Atp6v0d1 |
T |
C |
8: 106,257,606 (GRCm39) |
N108D |
probably damaging |
Het |
Avpr1b |
T |
C |
1: 131,528,008 (GRCm39) |
V177A |
probably damaging |
Het |
B020011L13Rik |
A |
T |
1: 117,728,969 (GRCm39) |
K159* |
probably null |
Het |
Bpifb1 |
T |
C |
2: 154,049,012 (GRCm39) |
L172P |
probably damaging |
Het |
Brca1 |
G |
A |
11: 101,414,204 (GRCm39) |
T1310I |
probably benign |
Het |
C130074G19Rik |
C |
A |
1: 184,615,166 (GRCm39) |
R8L |
probably damaging |
Het |
Ccdc178 |
T |
C |
18: 22,242,811 (GRCm39) |
H268R |
possibly damaging |
Het |
Cdc42ep5 |
A |
G |
7: 4,154,473 (GRCm39) |
V105A |
possibly damaging |
Het |
Cntn4 |
T |
C |
6: 106,483,180 (GRCm39) |
L245P |
probably damaging |
Het |
Crtac1 |
T |
C |
19: 42,276,365 (GRCm39) |
E521G |
probably benign |
Het |
Cts7 |
T |
A |
13: 61,503,394 (GRCm39) |
N190I |
probably damaging |
Het |
Cul7 |
A |
G |
17: 46,972,993 (GRCm39) |
E1368G |
probably benign |
Het |
Dhrs7l |
A |
T |
12: 72,666,266 (GRCm39) |
M89K |
possibly damaging |
Het |
Dpp10 |
G |
A |
1: 123,262,106 (GRCm39) |
P759S |
probably damaging |
Het |
Etf1 |
A |
G |
18: 35,064,964 (GRCm39) |
S11P |
unknown |
Het |
Exd2 |
G |
T |
12: 80,527,309 (GRCm39) |
L167F |
probably damaging |
Het |
Exoc8 |
T |
A |
8: 125,623,156 (GRCm39) |
R404* |
probably null |
Het |
Fat2 |
T |
C |
11: 55,187,208 (GRCm39) |
T1213A |
probably benign |
Het |
Fgfr2 |
T |
C |
7: 129,844,136 (GRCm39) |
|
|
Het |
Gtf3c1 |
T |
A |
7: 125,268,266 (GRCm39) |
|
|
Het |
Id2 |
T |
A |
12: 25,145,820 (GRCm39) |
I64F |
probably damaging |
Het |
Idh3a |
G |
T |
9: 54,499,756 (GRCm39) |
A75S |
probably damaging |
Het |
Ift70a2 |
A |
G |
2: 75,808,023 (GRCm39) |
L163P |
probably damaging |
Het |
Itgb8 |
C |
G |
12: 119,131,785 (GRCm39) |
G620A |
probably damaging |
Het |
Itih5 |
T |
A |
2: 10,191,873 (GRCm39) |
|
probably null |
Het |
Lamtor5 |
A |
T |
3: 107,189,336 (GRCm39) |
D124V |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,930,511 (GRCm39) |
E439G |
probably damaging |
Het |
Meltf |
T |
G |
16: 31,713,680 (GRCm39) |
L641R |
probably damaging |
Het |
Mesd |
G |
T |
7: 83,541,420 (GRCm39) |
|
probably benign |
Het |
Nfia |
C |
T |
4: 97,953,579 (GRCm39) |
P439L |
probably damaging |
Het |
Nptx1 |
A |
T |
11: 119,435,416 (GRCm39) |
|
probably null |
Het |
Or1o3 |
A |
T |
17: 37,573,905 (GRCm39) |
C217S |
probably benign |
Het |
Or2j6 |
T |
A |
7: 139,980,061 (GRCm39) |
R299S |
probably benign |
Het |
Or5t7 |
A |
G |
2: 86,507,633 (GRCm39) |
F15L |
probably benign |
Het |
Or7g29 |
G |
A |
9: 19,286,761 (GRCm39) |
Q139* |
probably null |
Het |
Pdss2 |
T |
A |
10: 43,248,172 (GRCm39) |
H225Q |
probably benign |
Het |
Pik3r5 |
C |
A |
11: 68,383,769 (GRCm39) |
S529R |
probably benign |
Het |
Plxna2 |
T |
C |
1: 194,326,590 (GRCm39) |
S175P |
possibly damaging |
Het |
Pom121l12 |
T |
A |
11: 14,549,551 (GRCm39) |
W86R |
probably benign |
Het |
Ppid |
C |
T |
3: 79,498,740 (GRCm39) |
|
probably benign |
Het |
Pramel7 |
T |
A |
2: 87,322,509 (GRCm39) |
D85V |
probably damaging |
Het |
Prune2 |
C |
T |
19: 17,098,732 (GRCm39) |
T1412I |
probably damaging |
Het |
Ptprd |
T |
C |
4: 76,046,913 (GRCm39) |
Y204C |
probably damaging |
Het |
Rbks |
A |
G |
5: 31,805,127 (GRCm39) |
S246P |
possibly damaging |
Het |
Rnf113a2 |
G |
T |
12: 84,464,451 (GRCm39) |
M114I |
possibly damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGCCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
Scara3 |
A |
G |
14: 66,169,093 (GRCm39) |
S175P |
probably damaging |
Het |
Slc4a4 |
T |
A |
5: 89,270,262 (GRCm39) |
L261Q |
probably damaging |
Het |
Sparcl1 |
T |
C |
5: 104,233,023 (GRCm39) |
I593V |
probably benign |
Het |
Suclg1 |
C |
T |
6: 73,253,696 (GRCm39) |
H115Y |
unknown |
Het |
Syde2 |
T |
A |
3: 145,694,510 (GRCm39) |
C253S |
probably benign |
Het |
Tecrl |
A |
T |
5: 83,427,182 (GRCm39) |
I322N |
probably damaging |
Het |
Tesmin |
C |
T |
19: 3,456,965 (GRCm39) |
A428V |
probably damaging |
Het |
Thbd |
T |
A |
2: 148,248,405 (GRCm39) |
T488S |
probably benign |
Het |
Tln2 |
A |
T |
9: 67,170,261 (GRCm39) |
V876E |
probably damaging |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,172,910 (GRCm39) |
I1246K |
unknown |
Het |
Usp47 |
T |
A |
7: 111,715,116 (GRCm39) |
|
|
Het |
Vmn1r192 |
C |
T |
13: 22,371,944 (GRCm39) |
R92Q |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,767,695 (GRCm39) |
T601A |
probably damaging |
Het |
Vmn2r51 |
A |
G |
7: 9,836,428 (GRCm39) |
F118L |
probably benign |
Het |
Vmn2r74 |
T |
A |
7: 85,605,173 (GRCm39) |
I492L |
probably benign |
Het |
Vmn2r93 |
C |
T |
17: 18,546,012 (GRCm39) |
T628I |
possibly damaging |
Het |
Vps13d |
C |
T |
4: 144,882,620 (GRCm39) |
R991K |
|
Het |
Wdr5b |
T |
C |
16: 35,862,306 (GRCm39) |
S142P |
probably damaging |
Het |
Zfp428 |
G |
T |
7: 24,215,069 (GRCm39) |
|
probably null |
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 |
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'- GGCAAAATACAATCTAGGTTGCTC -3'
(R):5'- CCAGCTTCAGAGACTCACTGTC -3'
Sequencing Primer
(F):5'- TCTAGGTTGCTCTTGTATAAGACAC -3'
(R):5'- AGCTTCAGAGACTCACTGTCCTATC -3'
|
Posted On |
2019-06-26 |