Incidental Mutation 'R5483:Rasgrp3'
| ID |
434450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgrp3
|
| Ensembl Gene |
ENSMUSG00000071042 |
| Gene Name |
RAS, guanyl releasing protein 3 |
| Synonyms |
LOC240168 |
| MMRRC Submission |
043044-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5483 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
75742891-75836049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 75832013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 611
(S611R)
|
| 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: S611R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092828
Gene: ENSMUSG00000071042
AA Change: S611R
| 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: S611R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129393
Gene: ENSMUSG00000071042
AA Change: S611R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.5%
- 10x: 94.8%
- 20x: 89.2%
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap206 |
G |
T |
4: 34,711,404 (GRCm39) |
Q498K |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,949,615 (GRCm39) |
Y524C |
probably damaging |
Het |
| Dnttip2 |
A |
T |
3: 122,070,446 (GRCm39) |
T554S |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,102,687 (GRCm39) |
T949A |
probably damaging |
Het |
| Enkur |
A |
T |
2: 21,199,109 (GRCm39) |
F142I |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,002 (GRCm39) |
A362T |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,413,795 (GRCm39) |
H124R |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,788,290 (GRCm39) |
I1011N |
possibly damaging |
Het |
| Ipo5 |
T |
A |
14: 121,157,450 (GRCm39) |
I96N |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,663,929 (GRCm39) |
I353V |
probably benign |
Het |
| Klf11 |
T |
A |
12: 24,705,410 (GRCm39) |
L288* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,735,921 (GRCm39) |
|
probably benign |
Het |
| Lmbrd1 |
T |
C |
1: 24,783,989 (GRCm39) |
Y373H |
probably damaging |
Het |
| Mlh1 |
G |
A |
9: 111,060,126 (GRCm39) |
A584V |
possibly damaging |
Het |
| Ociad1 |
T |
C |
5: 73,452,314 (GRCm39) |
F35S |
probably damaging |
Het |
| Or11l3 |
T |
A |
11: 58,516,783 (GRCm39) |
I30F |
possibly damaging |
Het |
| Or6c208 |
T |
C |
10: 129,223,526 (GRCm39) |
I8T |
probably benign |
Het |
| Or8u3-ps |
C |
T |
2: 85,952,962 (GRCm39) |
Q232* |
probably null |
Het |
| Pkd1l1 |
C |
T |
11: 8,851,141 (GRCm39) |
|
probably null |
Het |
| Pole |
T |
A |
5: 110,442,434 (GRCm39) |
D287E |
probably damaging |
Het |
| Polh |
G |
T |
17: 46,483,671 (GRCm39) |
S531R |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,177 (GRCm39) |
K207R |
probably benign |
Het |
| Rffl |
G |
T |
11: 82,703,549 (GRCm39) |
|
probably null |
Het |
| Scrib |
A |
G |
15: 75,939,508 (GRCm39) |
|
probably null |
Het |
| Serpinb3a |
T |
A |
1: 106,974,899 (GRCm39) |
K211N |
probably benign |
Het |
| Slc22a3 |
C |
T |
17: 12,683,354 (GRCm39) |
A170T |
probably damaging |
Het |
| Socs5 |
T |
G |
17: 87,442,402 (GRCm39) |
F447L |
probably damaging |
Het |
| Srrm2 |
T |
A |
17: 24,040,246 (GRCm39) |
S2393T |
probably damaging |
Het |
| Usp7 |
T |
A |
16: 8,516,404 (GRCm39) |
Y585F |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,153,564 (GRCm39) |
I670N |
probably benign |
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 |
|
R5444:Rasgrp3
|
UTSW |
17 |
75,810,370 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- ACAGCGATGGTTTGCTCCTG -3'
(R):5'- TTGCCCATCATCCTGGTCAG -3'
Sequencing Primer
(F):5'- ATGGTTTGCTCCTGGACAGACC -3'
(R):5'- TCAGGTTCAAATGCAGTGCC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation