Incidental Mutation 'R6606:Rasa4'
ID |
525675 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasa4
|
Ensembl Gene |
ENSMUSG00000004952 |
Gene Name |
RAS p21 protein activator 4 |
Synonyms |
|
MMRRC Submission |
044729-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R6606 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
136112770-136140714 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136132801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 18
(K18E)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042135]
[ENSMUST00000100570]
|
AlphaFold |
Q6PFQ7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042135
AA Change: K590E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037869 Gene: ENSMUSG00000004952 AA Change: K590E
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: K544E
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000098136 Gene: ENSMUSG00000004952 AA Change: K544E
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 damaging
Transcript: ENSMUST00000122887
AA Change: K18E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118929 Gene: ENSMUSG00000004952 AA Change: K18E
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: 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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152723
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184713
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
Validation Efficiency |
100% (35/35) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adal |
A |
G |
2: 120,980,769 (GRCm39) |
E21G |
probably damaging |
Het |
Ankk1 |
T |
C |
9: 49,327,646 (GRCm39) |
Y511C |
probably benign |
Het |
Atn1 |
G |
A |
6: 124,721,919 (GRCm39) |
|
probably benign |
Het |
Ccnt2 |
C |
A |
1: 127,730,978 (GRCm39) |
S618R |
probably benign |
Het |
Ces4a |
A |
G |
8: 105,876,010 (GRCm39) |
N517S |
possibly damaging |
Het |
Chd4 |
C |
A |
6: 125,086,389 (GRCm39) |
T963K |
probably damaging |
Het |
Crlf1 |
A |
G |
8: 70,953,824 (GRCm39) |
Y310C |
probably damaging |
Het |
Cyyr1 |
A |
G |
16: 85,254,438 (GRCm39) |
Y155H |
probably benign |
Het |
Dnah3 |
A |
T |
7: 119,660,179 (GRCm39) |
I831N |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Echdc1 |
A |
G |
10: 29,189,711 (GRCm39) |
I17V |
probably benign |
Het |
Ephx4 |
G |
T |
5: 107,560,931 (GRCm39) |
V28F |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,523,921 (GRCm39) |
I651T |
probably damaging |
Het |
Fbln7 |
A |
G |
2: 128,719,296 (GRCm39) |
Q31R |
possibly damaging |
Het |
Fbxl17 |
A |
G |
17: 63,794,783 (GRCm39) |
V433A |
probably damaging |
Het |
Gm20449 |
T |
C |
7: 41,108,253 (GRCm39) |
E39G |
unknown |
Het |
Gprc5b |
G |
A |
7: 118,583,296 (GRCm39) |
P191L |
probably benign |
Het |
Klhl1 |
T |
C |
14: 96,360,658 (GRCm39) |
T731A |
possibly damaging |
Het |
Myo3b |
A |
G |
2: 70,062,829 (GRCm39) |
D371G |
possibly damaging |
Het |
Or10n1 |
G |
A |
9: 39,525,378 (GRCm39) |
V172M |
probably damaging |
Het |
P4ha3 |
G |
T |
7: 99,954,851 (GRCm39) |
C303F |
probably damaging |
Het |
Parp10 |
C |
A |
15: 76,124,308 (GRCm39) |
V782L |
possibly damaging |
Het |
Prpf40a |
A |
G |
2: 53,041,763 (GRCm39) |
S501P |
probably damaging |
Het |
Ptpn3 |
A |
T |
4: 57,265,104 (GRCm39) |
|
probably null |
Het |
Ptprz1 |
A |
C |
6: 23,002,500 (GRCm39) |
H1530P |
probably benign |
Het |
Rit1 |
A |
G |
3: 88,624,945 (GRCm39) |
E48G |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rspo3 |
C |
T |
10: 29,330,277 (GRCm39) |
R228K |
unknown |
Het |
Scai |
A |
T |
2: 38,965,147 (GRCm39) |
S566T |
probably benign |
Het |
Scn4a |
T |
C |
11: 106,218,899 (GRCm39) |
E973G |
probably benign |
Het |
Slc15a3 |
T |
A |
19: 10,826,046 (GRCm39) |
F246I |
possibly damaging |
Het |
Stfa3 |
T |
C |
16: 36,275,647 (GRCm39) |
D27G |
possibly damaging |
Het |
Uba5 |
T |
C |
9: 103,932,420 (GRCm39) |
D181G |
probably damaging |
Het |
Urb1 |
T |
C |
16: 90,607,156 (GRCm39) |
T25A |
probably benign |
Het |
Zbtb43 |
G |
T |
2: 33,345,066 (GRCm39) |
S16Y |
probably damaging |
Het |
Zyg11b |
G |
A |
4: 108,093,286 (GRCm39) |
A717V |
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 |
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 |
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 |
|
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'- CACTGTAGGTCTTAGCACCTCC -3'
(R):5'- CCGACCCTGTAAGTACTCTGTC -3'
Sequencing Primer
(F):5'- GTAGGTCTTAGCACCTCCCCTAATC -3'
(R):5'- CCCTGTAAGTACTCTGTCCAATAAG -3'
|
Posted On |
2018-06-22 |