Incidental Mutation 'IGL03197:Rasa4'
ID |
412852 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rasa4
|
Ensembl Gene |
ENSMUSG00000004952 |
Gene Name |
RAS p21 protein activator 4 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
IGL03197
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
136112770-136140714 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136130866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 379
(K379R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098136
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042135]
[ENSMUST00000100570]
|
AlphaFold |
Q6PFQ7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042135
AA Change: K379R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037869 Gene: ENSMUSG00000004952 AA Change: K379R
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 damaging
Transcript: ENSMUST00000100570
AA Change: K379R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098136 Gene: ENSMUSG00000004952 AA Change: K379R
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
A |
G |
8: 117,698,541 (GRCm39) |
W189R |
probably damaging |
Het |
Abcb7 |
A |
T |
X: 103,327,797 (GRCm39) |
M704K |
possibly damaging |
Het |
Anp32e |
A |
G |
3: 95,844,364 (GRCm39) |
D71G |
probably damaging |
Het |
Asphd1 |
T |
C |
7: 126,545,298 (GRCm39) |
D353G |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,731,898 (GRCm39) |
K2047E |
possibly damaging |
Het |
Cyp2c39 |
G |
T |
19: 39,555,361 (GRCm39) |
V394F |
probably damaging |
Het |
Ddx43 |
G |
A |
9: 78,325,402 (GRCm39) |
M482I |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,350,089 (GRCm39) |
V2348E |
probably damaging |
Het |
Fam135a |
A |
G |
1: 24,083,263 (GRCm39) |
F304L |
probably damaging |
Het |
Gabra3 |
A |
G |
X: 71,583,734 (GRCm39) |
I66T |
possibly damaging |
Het |
Irf4 |
A |
T |
13: 30,947,503 (GRCm39) |
|
probably benign |
Het |
Kif11 |
A |
G |
19: 37,395,475 (GRCm39) |
D578G |
probably benign |
Het |
Lrig1 |
A |
G |
6: 94,583,099 (GRCm39) |
S1006P |
probably benign |
Het |
Mfsd14a |
A |
C |
3: 116,430,012 (GRCm39) |
S307A |
probably benign |
Het |
Mill1 |
A |
G |
7: 17,998,590 (GRCm39) |
T267A |
probably benign |
Het |
Nfyc |
C |
A |
4: 120,630,958 (GRCm39) |
D62Y |
probably damaging |
Het |
Nin |
T |
C |
12: 70,073,584 (GRCm39) |
T1190A |
probably benign |
Het |
Nup42 |
T |
C |
5: 24,372,463 (GRCm39) |
S84P |
probably damaging |
Het |
Ociad1 |
T |
C |
5: 73,451,675 (GRCm39) |
S15P |
probably benign |
Het |
Or4c104 |
A |
T |
2: 88,586,545 (GRCm39) |
I158K |
probably damaging |
Het |
Or6c69c |
A |
T |
10: 129,910,548 (GRCm39) |
I90F |
probably damaging |
Het |
Or7g25 |
A |
G |
9: 19,160,098 (GRCm39) |
I199T |
probably benign |
Het |
Pcdhb11 |
T |
A |
18: 37,555,477 (GRCm39) |
L269* |
probably null |
Het |
Pigo |
A |
C |
4: 43,022,103 (GRCm39) |
M352R |
possibly damaging |
Het |
Plch1 |
T |
C |
3: 63,660,591 (GRCm39) |
M343V |
probably damaging |
Het |
Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
Prkag1 |
A |
G |
15: 98,713,058 (GRCm39) |
|
probably benign |
Het |
Rraga |
G |
A |
4: 86,494,513 (GRCm39) |
A120T |
probably damaging |
Het |
Serpina3a |
C |
T |
12: 104,082,500 (GRCm39) |
A91V |
probably damaging |
Het |
Sik2 |
T |
C |
9: 50,807,073 (GRCm39) |
E779G |
probably damaging |
Het |
Slc15a3 |
T |
G |
19: 10,832,443 (GRCm39) |
|
probably null |
Het |
Smc1b |
C |
T |
15: 84,955,064 (GRCm39) |
D1063N |
possibly damaging |
Het |
Speer1e |
T |
G |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
Speer1k |
T |
A |
5: 11,000,501 (GRCm39) |
|
probably benign |
Het |
Srsf12 |
G |
A |
4: 33,231,040 (GRCm39) |
G183E |
probably damaging |
Het |
Taf8 |
A |
G |
17: 47,809,127 (GRCm39) |
S112P |
probably benign |
Het |
Trhde |
A |
G |
10: 114,249,213 (GRCm39) |
L851P |
probably benign |
Het |
Wapl |
G |
T |
14: 34,467,588 (GRCm39) |
V1182F |
possibly damaging |
Het |
Zfp326 |
A |
G |
5: 106,039,059 (GRCm39) |
I231V |
probably benign |
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 |
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 |
R2427:Rasa4
|
UTSW |
5 |
136,130,881 (GRCm39) |
missense |
probably benign |
0.24 |
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 |
|
Posted On |
2016-08-02 |