Incidental Mutation 'R2427:Rasa4'
| ID |
250268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasa4
|
| Ensembl Gene |
ENSMUSG00000004952 |
| Gene Name |
RAS p21 protein activator 4 |
| Synonyms |
|
| MMRRC Submission |
040389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R2427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
136112770-136140714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136130881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 384
(D384G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042135]
[ENSMUST00000100570]
|
| AlphaFold |
Q6PFQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042135
AA Change: D384G
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000037869
Gene: ENSMUSG00000004952
AA Change: D384G
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
103 |
5.43e-17 |
SMART |
|
C2
|
134 |
231 |
1.78e-21 |
SMART |
|
RasGAP
|
243 |
604 |
3.47e-139 |
SMART |
|
PH
|
566 |
674 |
1.81e-11 |
SMART |
|
BTK
|
674 |
710 |
3.6e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100570
AA Change: D384G
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000098136
Gene: ENSMUSG00000004952
AA Change: D384G
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
103 |
5.43e-17 |
SMART |
|
C2
|
134 |
231 |
1.78e-21 |
SMART |
|
RasGAP
|
243 |
558 |
3.48e-89 |
SMART |
|
PH
|
520 |
628 |
1.81e-11 |
SMART |
|
BTK
|
628 |
664 |
3.6e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122887
|
| SMART Domains |
Protein: ENSMUSP00000118929
Gene: ENSMUSG00000004952
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
6 |
103 |
1.36e-6 |
SMART |
|
BTK
|
103 |
141 |
5.56e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125048
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134509
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184713
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140972
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145294
|
| SMART Domains |
Protein: ENSMUSP00000120203
Gene: ENSMUSG00000004952
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
5 |
68 |
1.88e-2 |
SMART |
|
Blast:RasGAP
|
80 |
121 |
7e-20 |
BLAST |
|
| Meta Mutation Damage Score |
0.8621 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular Ca(2+) levels result in the translocation of this protein to the plasma membrane, where it activates Ras GTPase activity. Consequently, Ras is converted from the active GTP-bound state to the inactive GDP-bound state and no longer activates downstream pathways that regulate gene expression, cell growth, and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an increased sensitivity to bacterial infections which involves reduced phagocyte function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy1 |
A |
G |
1: 92,798,529 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
T |
A |
7: 126,045,755 (GRCm39) |
*995L |
probably null |
Het |
| Axin2 |
T |
A |
11: 108,814,800 (GRCm39) |
N229K |
possibly damaging |
Het |
| Capn13 |
A |
T |
17: 73,633,312 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,929,545 (GRCm39) |
I1202V |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,245,534 (GRCm39) |
L974P |
probably damaging |
Het |
| Cers3 |
T |
C |
7: 66,445,541 (GRCm39) |
Y321H |
probably benign |
Het |
| Chrnb4 |
T |
C |
9: 54,942,101 (GRCm39) |
Y391C |
probably benign |
Het |
| Ciao1 |
T |
C |
2: 127,088,611 (GRCm39) |
H104R |
probably damaging |
Het |
| Cldn4 |
A |
T |
5: 134,975,331 (GRCm39) |
V90E |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,760,433 (GRCm39) |
E253G |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,087,512 (GRCm39) |
W5R |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,638 (GRCm39) |
T479S |
probably benign |
Het |
| Fbxw25 |
T |
C |
9: 109,481,928 (GRCm39) |
N253D |
probably benign |
Het |
| Fer |
A |
G |
17: 64,264,298 (GRCm39) |
I39V |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,006,991 (GRCm39) |
M768V |
probably damaging |
Het |
| Frg1 |
T |
C |
8: 41,867,903 (GRCm39) |
K24E |
probably damaging |
Het |
| I830077J02Rik |
G |
T |
3: 105,835,320 (GRCm39) |
A19D |
probably damaging |
Het |
| Ighv1-20 |
C |
T |
12: 114,687,692 (GRCm39) |
|
silent |
Het |
| Igsf9 |
A |
G |
1: 172,318,306 (GRCm39) |
S149G |
probably damaging |
Het |
| Klra10 |
T |
A |
6: 130,256,298 (GRCm39) |
I119F |
probably benign |
Het |
| Lrrc4b |
T |
A |
7: 44,111,976 (GRCm39) |
I616N |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,653,309 (GRCm39) |
T64A |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,434,800 (GRCm39) |
I31N |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,915,808 (GRCm39) |
S165P |
probably damaging |
Het |
| Nol4 |
T |
G |
18: 22,983,755 (GRCm39) |
|
probably benign |
Het |
| Nt5el |
T |
C |
13: 105,246,269 (GRCm39) |
F277L |
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,944,709 (GRCm39) |
|
probably null |
Het |
| Rab27b |
T |
C |
18: 70,129,205 (GRCm39) |
T30A |
probably damaging |
Het |
| Slx4 |
G |
A |
16: 3,806,851 (GRCm39) |
L531F |
probably damaging |
Het |
| Tafa4 |
C |
T |
6: 96,991,328 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,949,557 (GRCm39) |
|
probably null |
Het |
| Tpm2 |
T |
C |
4: 43,523,306 (GRCm39) |
N17D |
probably damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,769,108 (GRCm39) |
T134A |
probably benign |
Het |
| Zfand6 |
T |
A |
7: 84,283,498 (GRCm39) |
K35* |
probably null |
Het |
| Zfp648 |
G |
A |
1: 154,080,819 (GRCm39) |
C326Y |
probably damaging |
Het |
|
| Other mutations in Rasa4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Rasa4
|
APN |
5 |
136,130,847 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01364:Rasa4
|
APN |
5 |
136,124,425 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01835:Rasa4
|
APN |
5 |
136,131,461 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02284:Rasa4
|
APN |
5 |
136,130,545 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02332:Rasa4
|
APN |
5 |
136,124,453 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03197:Rasa4
|
APN |
5 |
136,130,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Rasa4
|
UTSW |
5 |
136,130,924 (GRCm39) |
splice site |
probably benign |
|
|
R0782:Rasa4
|
UTSW |
5 |
136,133,386 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1124:Rasa4
|
UTSW |
5 |
136,134,510 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1673:Rasa4
|
UTSW |
5 |
136,133,491 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1902:Rasa4
|
UTSW |
5 |
136,120,092 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2357:Rasa4
|
UTSW |
5 |
136,120,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2880:Rasa4
|
UTSW |
5 |
136,120,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3818:Rasa4
|
UTSW |
5 |
136,131,147 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4647:Rasa4
|
UTSW |
5 |
136,130,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Rasa4
|
UTSW |
5 |
136,120,083 (GRCm39) |
nonsense |
probably null |
|
|
R4837:Rasa4
|
UTSW |
5 |
136,120,664 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4863:Rasa4
|
UTSW |
5 |
136,132,765 (GRCm39) |
nonsense |
probably null |
|
|
R5020:Rasa4
|
UTSW |
5 |
136,130,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5729:Rasa4
|
UTSW |
5 |
136,122,016 (GRCm39) |
missense |
probably benign |
|
|
R6606:Rasa4
|
UTSW |
5 |
136,132,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6750:Rasa4
|
UTSW |
5 |
136,129,802 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7009:Rasa4
|
UTSW |
5 |
136,130,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7158:Rasa4
|
UTSW |
5 |
136,130,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7358:Rasa4
|
UTSW |
5 |
136,124,448 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7914:Rasa4
|
UTSW |
5 |
136,130,510 (GRCm39) |
unclassified |
probably benign |
|
|
R8303:Rasa4
|
UTSW |
5 |
136,118,235 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8906:Rasa4
|
UTSW |
5 |
136,133,446 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9138:Rasa4
|
UTSW |
5 |
136,131,455 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9397:Rasa4
|
UTSW |
5 |
136,129,836 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9614:Rasa4
|
UTSW |
5 |
136,140,343 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9652:Rasa4
|
UTSW |
5 |
136,130,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9685:Rasa4
|
UTSW |
5 |
136,124,383 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACACATTCAGTAGAGAAGTC -3'
(R):5'- CCTGCAGGGGATTAACCAAC -3'
Sequencing Primer
(F):5'- GAAGTCACCTTAATTGTGCATCTGGC -3'
(R):5'- CAAGGTCAGCACTTGTGAATACTTGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation