Incidental Mutation 'R4901:Rasgrp3'
ID |
376186 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasgrp3
|
Ensembl Gene |
ENSMUSG00000071042 |
Gene Name |
RAS, guanyl releasing protein 3 |
Synonyms |
LOC240168 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4901 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
75742891-75836049 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 75821111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 439
(Y439*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095204]
[ENSMUST00000164192]
|
AlphaFold |
Q6NZH9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000095204
AA Change: Y439*
|
SMART Domains |
Protein: ENSMUSP00000092828 Gene: ENSMUSG00000071042 AA Change: Y439*
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 null
Transcript: ENSMUST00000164192
AA Change: Y439*
|
SMART Domains |
Protein: ENSMUSP00000129393 Gene: ENSMUSG00000071042 AA Change: Y439*
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: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.6%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
C |
T |
9: 44,188,954 (GRCm39) |
|
probably null |
Het |
Arg2 |
T |
C |
12: 79,194,485 (GRCm39) |
V103A |
probably damaging |
Het |
Bicra |
T |
A |
7: 15,721,526 (GRCm39) |
T664S |
possibly damaging |
Het |
Bptf |
A |
T |
11: 107,001,686 (GRCm39) |
Y475* |
probably null |
Het |
Calcrl |
T |
C |
2: 84,163,857 (GRCm39) |
I445V |
probably benign |
Het |
Ccdc110 |
G |
A |
8: 46,396,437 (GRCm39) |
R776Q |
probably benign |
Het |
Ccnc |
A |
G |
4: 21,727,894 (GRCm39) |
N4S |
probably damaging |
Het |
Ccni |
G |
A |
5: 93,331,003 (GRCm39) |
R323W |
probably damaging |
Het |
Celsr2 |
T |
A |
3: 108,314,303 (GRCm39) |
M1241L |
possibly damaging |
Het |
Cpd |
T |
C |
11: 76,681,707 (GRCm39) |
I1145M |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,367,323 (GRCm39) |
D265V |
probably benign |
Het |
Dennd2a |
T |
C |
6: 39,499,621 (GRCm39) |
T315A |
probably benign |
Het |
Dgkz |
T |
A |
2: 91,767,076 (GRCm39) |
Q905L |
probably benign |
Het |
Dnah8 |
G |
A |
17: 31,059,688 (GRCm39) |
|
probably null |
Het |
Elp2 |
A |
G |
18: 24,752,542 (GRCm39) |
H365R |
probably damaging |
Het |
Gm136 |
G |
A |
4: 34,746,580 (GRCm39) |
Q144* |
probably null |
Het |
Gon4l |
T |
C |
3: 88,815,458 (GRCm39) |
V2008A |
possibly damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Isyna1 |
A |
T |
8: 71,049,246 (GRCm39) |
H414L |
probably damaging |
Het |
Kif20b |
A |
G |
19: 34,911,836 (GRCm39) |
Y233C |
probably benign |
Het |
Klk1 |
A |
T |
7: 43,878,139 (GRCm39) |
I132F |
probably damaging |
Het |
Klre1 |
A |
T |
6: 129,561,188 (GRCm39) |
H183L |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,711,657 (GRCm39) |
T3188A |
probably damaging |
Het |
Mapk12 |
A |
T |
15: 89,018,841 (GRCm39) |
L198* |
probably null |
Het |
Mt4 |
A |
C |
8: 94,864,912 (GRCm39) |
T29P |
possibly damaging |
Het |
Myh14 |
C |
T |
7: 44,310,464 (GRCm39) |
V140I |
probably damaging |
Het |
Nr1h4 |
T |
C |
10: 89,314,659 (GRCm39) |
Q269R |
possibly damaging |
Het |
Or4p23 |
C |
G |
2: 88,577,231 (GRCm39) |
|
probably null |
Het |
Or51e1 |
A |
G |
7: 102,359,405 (GRCm39) |
H313R |
probably benign |
Het |
Pde1b |
A |
G |
15: 103,435,112 (GRCm39) |
I421V |
probably null |
Het |
Pde3b |
A |
T |
7: 114,107,425 (GRCm39) |
T519S |
probably damaging |
Het |
Phf21a |
T |
A |
2: 92,187,346 (GRCm39) |
C178* |
probably null |
Het |
Phtf2 |
A |
G |
5: 21,010,722 (GRCm39) |
S88P |
possibly damaging |
Het |
Pik3c3 |
A |
G |
18: 30,435,982 (GRCm39) |
M394V |
possibly damaging |
Het |
Plxnb1 |
C |
T |
9: 108,934,027 (GRCm39) |
P752S |
probably benign |
Het |
Pp2d1 |
C |
A |
17: 53,822,037 (GRCm39) |
G343V |
probably benign |
Het |
Ppp6r2 |
A |
G |
15: 89,143,272 (GRCm39) |
I140V |
possibly damaging |
Het |
Ppp6r3 |
C |
A |
19: 3,517,229 (GRCm39) |
V75L |
probably damaging |
Het |
Ptprq |
T |
A |
10: 107,524,275 (GRCm39) |
H486L |
probably benign |
Het |
Rasgrf1 |
C |
T |
9: 89,877,056 (GRCm39) |
T807M |
probably benign |
Het |
Rbm44 |
A |
G |
1: 91,081,050 (GRCm39) |
T413A |
probably benign |
Het |
Rnf135 |
T |
C |
11: 80,089,662 (GRCm39) |
C333R |
probably damaging |
Het |
Scfd2 |
A |
G |
5: 74,680,226 (GRCm39) |
V309A |
probably damaging |
Het |
Semp2l1 |
T |
C |
1: 32,585,701 (GRCm39) |
S70G |
probably benign |
Het |
Serpina3m |
A |
T |
12: 104,355,908 (GRCm39) |
K192* |
probably null |
Het |
Sft2d1rt |
A |
G |
11: 45,942,656 (GRCm39) |
S156P |
probably damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,123,506 (GRCm39) |
I756V |
probably benign |
Het |
Slc27a4 |
T |
C |
2: 29,702,648 (GRCm39) |
V516A |
probably damaging |
Het |
Sult2a5 |
T |
A |
7: 13,359,188 (GRCm39) |
C55S |
probably benign |
Het |
Tars3 |
C |
T |
7: 65,341,042 (GRCm39) |
T783M |
probably benign |
Het |
Tet2 |
A |
T |
3: 133,172,805 (GRCm39) |
I1819N |
possibly damaging |
Het |
Timeless |
T |
C |
10: 128,086,631 (GRCm39) |
F1057L |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,628,418 (GRCm39) |
I12835F |
probably damaging |
Het |
Uhrf1 |
T |
A |
17: 56,617,834 (GRCm39) |
D185E |
probably benign |
Het |
Vmn2r74 |
G |
T |
7: 85,605,199 (GRCm39) |
S483* |
probably null |
Het |
Xpo1 |
A |
T |
11: 23,231,327 (GRCm39) |
I304F |
possibly damaging |
Het |
Zc3h11a |
A |
G |
1: 133,552,449 (GRCm39) |
S553P |
probably benign |
Het |
Zdhhc1 |
A |
G |
8: 106,199,484 (GRCm39) |
S402P |
probably benign |
Het |
Zwilch |
T |
C |
9: 64,070,028 (GRCm39) |
Y101C |
probably damaging |
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 |
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 |
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'- GCTATGTGTTTAGGAGTCTCCC -3'
(R):5'- AGATTGCTGGTTTGCCTTCC -3'
Sequencing Primer
(F):5'- ATGTGTTTAGGAGTCTCCCATCAGC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
Posted On |
2016-03-17 |