Incidental Mutation 'R5444:Rasgrp3'
ID |
427367 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasgrp3
|
Ensembl Gene |
ENSMUSG00000071042 |
Gene Name |
RAS, guanyl releasing protein 3 |
Synonyms |
LOC240168 |
MMRRC Submission |
043009-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5444 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
75742891-75836049 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 75810370 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 357
(I357F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095204]
[ENSMUST00000164192]
|
AlphaFold |
Q6NZH9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095204
AA Change: I357F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000092828 Gene: ENSMUSG00000071042 AA Change: I357F
Domain | Start | End | E-Value | Type |
RasGEFN
|
2 |
125 |
6.77e-12 |
SMART |
RasGEF
|
148 |
384 |
4.57e-104 |
SMART |
EFh
|
424 |
452 |
1.07e-1 |
SMART |
EFh
|
453 |
481 |
4.04e0 |
SMART |
C1
|
495 |
544 |
5.47e-17 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164192
AA Change: I357F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000129393 Gene: ENSMUSG00000071042 AA Change: I357F
Domain | Start | End | E-Value | Type |
RasGEFN
|
2 |
125 |
6.77e-12 |
SMART |
RasGEF
|
148 |
384 |
4.57e-104 |
SMART |
EFh
|
424 |
452 |
1.07e-1 |
SMART |
EFh
|
453 |
481 |
4.04e0 |
SMART |
C1
|
495 |
544 |
5.47e-17 |
SMART |
|
Meta Mutation Damage Score |
0.3145 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
99% (66/67) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RASGRP3, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008] PHENOTYPE: Homozygous mutant mice are viable and fertile with no obvious abnormalities in the kidneys or vasculature. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930584F24Rik |
A |
G |
5: 26,684,735 (GRCm39) |
|
noncoding transcript |
Het |
Adam11 |
A |
G |
11: 102,663,674 (GRCm39) |
Q284R |
probably damaging |
Het |
Adamts17 |
T |
A |
7: 66,691,647 (GRCm39) |
H610Q |
probably benign |
Het |
Alg6 |
A |
G |
4: 99,629,816 (GRCm39) |
Y131C |
probably benign |
Het |
Apol9b |
T |
C |
15: 77,619,963 (GRCm39) |
I253T |
probably damaging |
Het |
Asb4 |
T |
A |
6: 5,431,040 (GRCm39) |
I425N |
probably damaging |
Het |
Atic |
T |
C |
1: 71,615,876 (GRCm39) |
L474P |
probably damaging |
Het |
B3glct |
C |
T |
5: 149,669,985 (GRCm39) |
T318I |
probably damaging |
Het |
Bbs7 |
T |
C |
3: 36,666,199 (GRCm39) |
K22E |
possibly damaging |
Het |
Cdk17 |
T |
G |
10: 93,053,823 (GRCm39) |
|
probably null |
Het |
Cemip |
T |
A |
7: 83,631,499 (GRCm39) |
T438S |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,122,833 (GRCm39) |
E967G |
probably damaging |
Het |
Cyp2d26 |
G |
T |
15: 82,676,739 (GRCm39) |
D202E |
probably benign |
Het |
Dhdds |
G |
A |
4: 133,698,447 (GRCm39) |
R295* |
probably null |
Het |
Eef2kmt |
G |
A |
16: 5,066,959 (GRCm39) |
|
probably benign |
Het |
Fn3krp |
G |
A |
11: 121,312,430 (GRCm39) |
|
probably null |
Het |
Gjc3 |
G |
A |
5: 137,955,809 (GRCm39) |
L159F |
probably damaging |
Het |
Gm28434 |
T |
C |
5: 88,127,147 (GRCm39) |
|
probably benign |
Het |
Gp2 |
G |
A |
7: 119,053,821 (GRCm39) |
P47S |
possibly damaging |
Het |
Irf7 |
C |
T |
7: 140,844,732 (GRCm39) |
|
probably benign |
Het |
Itgb8 |
T |
C |
12: 119,201,573 (GRCm39) |
|
probably benign |
Het |
Kcnb2 |
A |
T |
1: 15,781,716 (GRCm39) |
I863F |
probably benign |
Het |
Lamb1 |
T |
C |
12: 31,348,908 (GRCm39) |
F647L |
possibly damaging |
Het |
Mccc1 |
T |
A |
3: 36,030,891 (GRCm39) |
M392L |
probably benign |
Het |
Mtmr10 |
T |
C |
7: 63,938,149 (GRCm39) |
|
probably null |
Het |
Ncstn |
A |
C |
1: 171,900,406 (GRCm39) |
V223G |
possibly damaging |
Het |
Neurl3 |
G |
T |
1: 36,308,571 (GRCm39) |
F80L |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,334,785 (GRCm39) |
M869T |
possibly damaging |
Het |
Nfatc2 |
A |
G |
2: 168,376,810 (GRCm39) |
|
probably benign |
Het |
Nnat |
T |
C |
2: 157,403,137 (GRCm39) |
F26S |
possibly damaging |
Het |
Nos1ap |
T |
C |
1: 170,202,820 (GRCm39) |
Y109C |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,166,124 (GRCm39) |
D194E |
probably damaging |
Het |
Or10ak11 |
T |
A |
4: 118,687,308 (GRCm39) |
I109L |
probably benign |
Het |
Or3a4 |
T |
C |
11: 73,944,803 (GRCm39) |
S261G |
probably benign |
Het |
Or52k2 |
C |
T |
7: 102,254,076 (GRCm39) |
R172* |
probably null |
Het |
Or5b109 |
A |
T |
19: 13,212,322 (GRCm39) |
Q236L |
probably benign |
Het |
Or9g3 |
A |
T |
2: 85,590,263 (GRCm39) |
F152L |
probably benign |
Het |
Ostf1 |
A |
G |
19: 18,558,677 (GRCm39) |
L202S |
probably benign |
Het |
Pdzrn4 |
T |
A |
15: 92,668,806 (GRCm39) |
M747K |
probably damaging |
Het |
Plxnb1 |
A |
G |
9: 108,935,521 (GRCm39) |
D1019G |
probably benign |
Het |
Pnlip |
A |
G |
19: 58,661,595 (GRCm39) |
I95V |
probably benign |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Ppp1r13b |
T |
A |
12: 111,805,122 (GRCm39) |
T197S |
probably benign |
Het |
Rbmxl2 |
G |
C |
7: 106,809,044 (GRCm39) |
G110R |
probably damaging |
Het |
Relch |
C |
T |
1: 105,654,109 (GRCm39) |
T826I |
possibly damaging |
Het |
Rgs22 |
T |
C |
15: 36,015,773 (GRCm39) |
D1037G |
possibly damaging |
Het |
Rnf215 |
A |
G |
11: 4,085,843 (GRCm39) |
I107M |
probably benign |
Het |
Rybp |
A |
T |
6: 100,264,231 (GRCm39) |
M3K |
probably damaging |
Het |
Sgo2b |
T |
C |
8: 64,379,590 (GRCm39) |
S1081G |
possibly damaging |
Het |
Slfn10-ps |
C |
T |
11: 82,926,113 (GRCm39) |
|
noncoding transcript |
Het |
Spag17 |
T |
C |
3: 99,963,468 (GRCm39) |
V1062A |
probably benign |
Het |
Sult2a1 |
A |
T |
7: 13,569,944 (GRCm39) |
I96K |
possibly damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,042,995 (GRCm39) |
I831T |
probably damaging |
Het |
Thbs3 |
T |
C |
3: 89,130,692 (GRCm39) |
|
probably benign |
Het |
Tmub2 |
T |
C |
11: 102,179,066 (GRCm39) |
L255S |
possibly damaging |
Het |
Trank1 |
T |
A |
9: 111,222,026 (GRCm39) |
L2921Q |
probably benign |
Het |
Trappc14 |
A |
T |
5: 138,259,260 (GRCm39) |
|
probably null |
Het |
Tuba8 |
A |
T |
6: 121,203,060 (GRCm39) |
|
probably benign |
Het |
Vmn2r25 |
T |
C |
6: 123,805,451 (GRCm39) |
I469V |
probably benign |
Het |
Zfp1007 |
A |
T |
5: 109,823,502 (GRCm39) |
Y649* |
probably null |
Het |
|
Other mutations in Rasgrp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02270:Rasgrp3
|
APN |
17 |
75,823,368 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02529:Rasgrp3
|
APN |
17 |
75,832,097 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02672:Rasgrp3
|
APN |
17 |
75,803,412 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02935:Rasgrp3
|
APN |
17 |
75,804,065 (GRCm39) |
missense |
probably benign |
0.00 |
Aster
|
UTSW |
17 |
75,816,822 (GRCm39) |
splice site |
probably null |
|
aston
|
UTSW |
17 |
75,807,753 (GRCm39) |
critical splice donor site |
probably null |
|
centre
|
UTSW |
17 |
75,807,729 (GRCm39) |
missense |
possibly damaging |
0.50 |
P0021:Rasgrp3
|
UTSW |
17 |
75,807,708 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4243001:Rasgrp3
|
UTSW |
17 |
75,807,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R0090:Rasgrp3
|
UTSW |
17 |
75,805,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R0907:Rasgrp3
|
UTSW |
17 |
75,816,822 (GRCm39) |
splice site |
probably null |
|
R1182:Rasgrp3
|
UTSW |
17 |
75,810,185 (GRCm39) |
missense |
probably benign |
0.01 |
R1412:Rasgrp3
|
UTSW |
17 |
75,816,822 (GRCm39) |
splice site |
probably null |
|
R1572:Rasgrp3
|
UTSW |
17 |
75,807,729 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1664:Rasgrp3
|
UTSW |
17 |
75,831,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R2094:Rasgrp3
|
UTSW |
17 |
75,810,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R2111:Rasgrp3
|
UTSW |
17 |
75,807,753 (GRCm39) |
critical splice donor site |
probably null |
|
R3026:Rasgrp3
|
UTSW |
17 |
75,831,916 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4052:Rasgrp3
|
UTSW |
17 |
75,803,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R4348:Rasgrp3
|
UTSW |
17 |
75,818,975 (GRCm39) |
missense |
probably benign |
0.00 |
R4509:Rasgrp3
|
UTSW |
17 |
75,807,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R4642:Rasgrp3
|
UTSW |
17 |
75,805,443 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4791:Rasgrp3
|
UTSW |
17 |
75,807,168 (GRCm39) |
missense |
probably benign |
0.37 |
R4901:Rasgrp3
|
UTSW |
17 |
75,821,111 (GRCm39) |
nonsense |
probably null |
|
R4927:Rasgrp3
|
UTSW |
17 |
75,823,350 (GRCm39) |
missense |
probably benign |
0.00 |
R5410:Rasgrp3
|
UTSW |
17 |
75,804,042 (GRCm39) |
missense |
probably benign |
0.01 |
R5483:Rasgrp3
|
UTSW |
17 |
75,832,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R5518:Rasgrp3
|
UTSW |
17 |
75,823,354 (GRCm39) |
missense |
probably benign |
0.36 |
R5755:Rasgrp3
|
UTSW |
17 |
75,831,940 (GRCm39) |
missense |
probably benign |
0.44 |
R5845:Rasgrp3
|
UTSW |
17 |
75,810,142 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6310:Rasgrp3
|
UTSW |
17 |
75,801,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R6604:Rasgrp3
|
UTSW |
17 |
75,810,110 (GRCm39) |
missense |
probably benign |
0.10 |
R6826:Rasgrp3
|
UTSW |
17 |
75,810,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R7409:Rasgrp3
|
UTSW |
17 |
75,823,411 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7507:Rasgrp3
|
UTSW |
17 |
75,804,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R7536:Rasgrp3
|
UTSW |
17 |
75,821,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R7538:Rasgrp3
|
UTSW |
17 |
75,803,411 (GRCm39) |
missense |
probably benign |
|
R8089:Rasgrp3
|
UTSW |
17 |
75,804,056 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8677:Rasgrp3
|
UTSW |
17 |
75,819,055 (GRCm39) |
missense |
probably benign |
0.00 |
R9483:Rasgrp3
|
UTSW |
17 |
75,807,717 (GRCm39) |
missense |
probably benign |
0.22 |
R9521:Rasgrp3
|
UTSW |
17 |
75,821,158 (GRCm39) |
missense |
probably null |
1.00 |
R9557:Rasgrp3
|
UTSW |
17 |
75,807,139 (GRCm39) |
missense |
probably damaging |
0.98 |
R9727:Rasgrp3
|
UTSW |
17 |
75,810,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R9757:Rasgrp3
|
UTSW |
17 |
75,807,719 (GRCm39) |
missense |
probably damaging |
1.00 |
X0011:Rasgrp3
|
UTSW |
17 |
75,832,161 (GRCm39) |
nonsense |
probably null |
|
Z1177:Rasgrp3
|
UTSW |
17 |
75,819,090 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAAATCCCCATCCTTGGCG -3'
(R):5'- TCAAATCATGCTCCTTGTGGGTG -3'
Sequencing Primer
(F):5'- CATCCTTGGCGTGCACTTGAAAG -3'
(R):5'- CATCCTTTGAGAGCCTCATCCTAG -3'
|
Posted On |
2016-09-01 |