Incidental Mutation 'R9280:Rasgrp1'
| ID |
703541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgrp1
|
| Ensembl Gene |
ENSMUSG00000027347 |
| Gene Name |
RAS guanyl releasing protein 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.264)
|
| Stock # |
R9280 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
117110464-117173358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117113132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 760
(N760S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102534]
[ENSMUST00000172901]
[ENSMUST00000173252]
[ENSMUST00000173541]
[ENSMUST00000174770]
[ENSMUST00000178884]
|
| AlphaFold |
Q9Z1S3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102534
AA Change: N760S
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: N760S
| 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 |
silent
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 |
silent
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 benign
Transcript: ENSMUST00000173541
AA Change: N725S
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: N725S
| 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 benign
Transcript: ENSMUST00000178884
AA Change: N760S
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: N760S
| 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 |
0.0673 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (63/63) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
G |
T |
6: 125,039,938 (GRCm39) |
V514L |
probably damaging |
Het |
| Actl11 |
A |
G |
9: 107,808,573 (GRCm39) |
I965M |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,818,021 (GRCm39) |
S1468C |
possibly damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,955,116 (GRCm39) |
D652G |
possibly damaging |
Het |
| Apobec3 |
A |
C |
15: 79,791,082 (GRCm39) |
N392T |
|
Het |
| Ccdc33 |
A |
T |
9: 57,965,549 (GRCm39) |
M591K |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,870,153 (GRCm39) |
E689G |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,497,227 (GRCm39) |
M250K |
probably benign |
Het |
| Crppa |
T |
A |
12: 36,571,975 (GRCm39) |
S344R |
probably benign |
Het |
| Ctbs |
A |
T |
3: 146,160,142 (GRCm39) |
Y57F |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,189,255 (GRCm39) |
I1540V |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 31,004,071 (GRCm39) |
Q3651H |
possibly damaging |
Het |
| Eif2a |
A |
G |
3: 58,447,009 (GRCm39) |
|
probably benign |
Het |
| Entpd2 |
A |
G |
2: 25,289,511 (GRCm39) |
N331S |
possibly damaging |
Het |
| F830045P16Rik |
G |
A |
2: 129,314,774 (GRCm39) |
P168S |
probably damaging |
Het |
| Fam76b |
A |
T |
9: 13,751,012 (GRCm39) |
H302L |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,153,612 (GRCm39) |
E1356G |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,201,523 (GRCm39) |
T517I |
probably benign |
Het |
| Glul |
T |
C |
1: 153,783,611 (GRCm39) |
C269R |
probably benign |
Het |
| Gm3404 |
C |
T |
5: 146,462,756 (GRCm39) |
H40Y |
possibly damaging |
Het |
| Grb7 |
T |
C |
11: 98,345,248 (GRCm39) |
F435S |
probably damaging |
Het |
| Ide |
A |
T |
19: 37,295,490 (GRCm39) |
Y191N |
|
Het |
| Ide |
T |
C |
19: 37,307,801 (GRCm39) |
|
probably benign |
Het |
| Ighv6-3 |
T |
A |
12: 114,355,420 (GRCm39) |
T90S |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,429,410 (GRCm39) |
C311R |
probably damaging |
Het |
| Ilf2 |
A |
G |
3: 90,394,922 (GRCm39) |
E390G |
unknown |
Het |
| Ints1 |
C |
T |
5: 139,750,469 (GRCm39) |
C896Y |
probably damaging |
Het |
| Ipcef1 |
T |
C |
10: 6,850,736 (GRCm39) |
E289G |
probably benign |
Het |
| Kbtbd2 |
G |
A |
6: 56,755,997 (GRCm39) |
R580W |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,099,445 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mmp27 |
A |
T |
9: 7,579,812 (GRCm39) |
I429L |
probably benign |
Het |
| Mmp8 |
A |
G |
9: 7,567,292 (GRCm39) |
D431G |
possibly damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,439,828 (GRCm39) |
T429A |
probably benign |
Het |
| Mterf1a |
A |
T |
5: 3,941,539 (GRCm39) |
Y110N |
probably damaging |
Het |
| Myh4 |
G |
A |
11: 67,146,135 (GRCm39) |
A1398T |
probably damaging |
Het |
| Nr3c2 |
T |
A |
8: 77,635,973 (GRCm39) |
M358K |
probably benign |
Het |
| Nup50l |
A |
C |
6: 96,141,982 (GRCm39) |
L354R |
probably damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,458 (GRCm39) |
F170Y |
probably damaging |
Het |
| Or5g25 |
G |
A |
2: 85,478,504 (GRCm39) |
R54* |
probably null |
Het |
| Or7e173 |
A |
C |
9: 19,938,639 (GRCm39) |
S198R |
probably benign |
Het |
| Otof |
A |
G |
5: 30,528,894 (GRCm39) |
F1838S |
probably damaging |
Het |
| Pappa2 |
G |
A |
1: 158,675,533 (GRCm39) |
T1071I |
possibly damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,794 (GRCm39) |
D342G |
probably damaging |
Het |
| Pcdhgb7 |
T |
C |
18: 37,886,585 (GRCm39) |
L585P |
probably damaging |
Het |
| Pde1c |
A |
T |
6: 56,114,505 (GRCm39) |
S469R |
probably benign |
Het |
| Pla2g6 |
A |
G |
15: 79,197,314 (GRCm39) |
F87L |
probably benign |
Het |
| Rag2 |
A |
T |
2: 101,460,145 (GRCm39) |
M152L |
probably benign |
Het |
| Rasa1 |
C |
T |
13: 85,436,732 (GRCm39) |
A99T |
unknown |
Het |
| Rgsl1 |
A |
T |
1: 153,669,898 (GRCm39) |
M232K |
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,802,389 (GRCm39) |
H744Y |
probably damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,282,325 (GRCm39) |
S50P |
probably damaging |
Het |
| Slc25a36 |
A |
C |
9: 96,982,233 (GRCm39) |
L34R |
probably damaging |
Het |
| Slc39a12 |
A |
T |
2: 14,401,003 (GRCm39) |
I127F |
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,939,978 (GRCm39) |
L175P |
possibly damaging |
Het |
| Sntb1 |
T |
C |
15: 55,769,771 (GRCm39) |
T73A |
probably benign |
Het |
| Tbc1d14 |
T |
C |
5: 36,680,268 (GRCm39) |
|
probably benign |
Het |
| Tll2 |
T |
A |
19: 41,077,309 (GRCm39) |
E819V |
possibly damaging |
Het |
| Trappc13 |
C |
T |
13: 104,290,809 (GRCm39) |
A181T |
probably benign |
Het |
| Trbj1-1 |
A |
G |
6: 41,510,830 (GRCm39) |
R11G |
|
Het |
| Ubash3b |
A |
C |
9: 41,072,877 (GRCm39) |
I12S |
unknown |
Het |
| Usp37 |
T |
C |
1: 74,489,699 (GRCm39) |
K828E |
probably damaging |
Het |
| Usp8 |
G |
C |
2: 126,561,944 (GRCm39) |
S46T |
unknown |
Het |
| Zfp418 |
A |
G |
7: 7,184,408 (GRCm39) |
T124A |
possibly damaging |
Het |
| Zfp87 |
T |
C |
13: 74,520,803 (GRCm39) |
T92A |
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 |
|
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 |
|
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'- GAACGTCTGCAATGAGTTTTGAAG -3'
(R):5'- GCTATTTGTGCATGCCCATG -3'
Sequencing Primer
(F):5'- TTGAAGTGAGATCCCAGTATACCCTC -3'
(R):5'- GTGCATGCCCATGATAGTTAATG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation