Incidental Mutation 'R7914:Rasa4'
ID |
656383 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasa4
|
Ensembl Gene |
ENSMUSG00000004952 |
Gene Name |
RAS p21 protein activator 4 |
Synonyms |
|
MMRRC Submission |
045962-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R7914 (G1)
|
Quality Score |
213.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
136112770-136140714 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 136130510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042135]
[ENSMUST00000100570]
|
AlphaFold |
Q6PFQ7 |
Predicted Effect |
silent
Transcript: ENSMUST00000042135
|
SMART Domains |
Protein: ENSMUSP00000037869 Gene: ENSMUSG00000004952
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 |
silent
Transcript: ENSMUST00000100570
|
SMART Domains |
Protein: ENSMUSP00000098136 Gene: ENSMUSG00000004952
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 |
|
SMART Domains |
Protein: ENSMUSP00000120203 Gene: ENSMUSG00000004952 AA Change: L131H
Domain | Start | End | E-Value | Type |
C2
|
5 |
68 |
1.88e-2 |
SMART |
Blast:RasGAP
|
80 |
121 |
7e-20 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (39/39) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
G |
T |
10: 100,428,538 (GRCm39) |
V12F |
probably benign |
Het |
Adnp2 |
T |
A |
18: 80,174,056 (GRCm39) |
R118W |
probably damaging |
Het |
Apaf1 |
G |
A |
10: 90,896,095 (GRCm39) |
R337C |
probably damaging |
Het |
Arhgef40 |
T |
C |
14: 52,225,032 (GRCm39) |
L59P |
probably damaging |
Het |
B020011L13Rik |
A |
G |
1: 117,729,162 (GRCm39) |
E223G |
probably benign |
Het |
Bcl6 |
T |
C |
16: 23,788,761 (GRCm39) |
R536G |
possibly damaging |
Het |
Bltp1 |
A |
T |
3: 37,000,432 (GRCm39) |
N1204Y |
probably benign |
Het |
Catsperg1 |
T |
C |
7: 28,894,851 (GRCm39) |
E582G |
probably benign |
Het |
Ccdc136 |
A |
G |
6: 29,419,306 (GRCm39) |
N942S |
probably damaging |
Het |
Ccdc81 |
A |
C |
7: 89,524,988 (GRCm39) |
M531R |
possibly damaging |
Het |
Cep78 |
T |
C |
19: 15,953,672 (GRCm39) |
E283G |
probably benign |
Het |
Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
E230025N22Rik |
C |
A |
18: 36,828,605 (GRCm39) |
R24S |
possibly damaging |
Het |
Epb41l1 |
T |
A |
2: 156,364,128 (GRCm39) |
M879K |
probably benign |
Het |
Fam135a |
T |
C |
1: 24,065,760 (GRCm39) |
Y1226C |
probably damaging |
Het |
Fbxo11 |
T |
C |
17: 88,320,031 (GRCm39) |
E151G |
|
Het |
Herc6 |
A |
G |
6: 57,584,106 (GRCm39) |
T322A |
probably benign |
Het |
Inka1 |
T |
C |
9: 107,862,761 (GRCm39) |
|
probably benign |
Het |
Kalrn |
T |
A |
16: 33,849,122 (GRCm39) |
Q2110L |
probably benign |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Lrrc19 |
T |
A |
4: 94,526,537 (GRCm39) |
H340L |
probably damaging |
Het |
Mkks |
A |
T |
2: 136,722,876 (GRCm39) |
F94I |
probably damaging |
Het |
Pcdhga3 |
T |
A |
18: 37,808,013 (GRCm39) |
F155L |
probably benign |
Het |
Pdlim1 |
T |
A |
19: 40,240,445 (GRCm39) |
I53F |
probably damaging |
Het |
Pttg1 |
A |
T |
11: 43,316,421 (GRCm39) |
L26Q |
probably benign |
Het |
Rsbn1l |
A |
G |
5: 21,110,896 (GRCm39) |
S481P |
probably damaging |
Het |
Sae1 |
C |
A |
7: 16,121,648 (GRCm39) |
G10C |
unknown |
Het |
Samd15 |
T |
C |
12: 87,248,559 (GRCm39) |
S415P |
probably damaging |
Het |
Scn7a |
T |
A |
2: 66,530,294 (GRCm39) |
I684F |
probably damaging |
Het |
Sec23b |
T |
A |
2: 144,406,565 (GRCm39) |
M120K |
probably benign |
Het |
Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
Slf2 |
T |
A |
19: 44,947,499 (GRCm39) |
M821K |
possibly damaging |
Het |
Suv39h2 |
G |
A |
2: 3,465,453 (GRCm39) |
R301* |
probably null |
Het |
Tgfbi |
A |
G |
13: 56,777,502 (GRCm39) |
T329A |
probably damaging |
Het |
Tmprss12 |
T |
C |
15: 100,183,111 (GRCm39) |
F151S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,747,525 (GRCm39) |
D4508G |
probably benign |
Het |
Tyk2 |
C |
A |
9: 21,032,851 (GRCm39) |
C304F |
probably benign |
Het |
Vmn1r121 |
T |
A |
7: 20,831,589 (GRCm39) |
T284S |
probably benign |
Het |
Vmn2r117 |
A |
G |
17: 23,679,100 (GRCm39) |
I708T |
possibly damaging |
Het |
Vmn2r2 |
A |
T |
3: 64,041,526 (GRCm39) |
D396E |
probably benign |
Het |
Zfc3h1 |
A |
G |
10: 115,239,062 (GRCm39) |
|
probably null |
Het |
Zic4 |
T |
G |
9: 91,266,181 (GRCm39) |
V275G |
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 |
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 |
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'- TTTAGCACACTAACTGCCCC -3'
(R):5'- GCCAGATGCACAATTAAGGTG -3'
Sequencing Primer
(F):5'- TTTAGCACACTAACTGCCCCTCTAAG -3'
(R):5'- AATGTGTGCCTACATGCATGC -3'
|
Posted On |
2020-10-29 |