Incidental Mutation 'R9685:Rasa4'
| ID |
728793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasa4
|
| Ensembl Gene |
ENSMUSG00000004952 |
| Gene Name |
RAS p21 protein activator 4 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R9685 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
136112770-136140714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136124383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 144
(D144G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042135]
[ENSMUST00000100570]
|
| AlphaFold |
Q6PFQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042135
AA Change: D144G
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000037869
Gene: ENSMUSG00000004952
AA Change: D144G
| 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: D144G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000098136
Gene: ENSMUSG00000004952
AA Change: D144G
| 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: 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
G |
T |
16: 64,586,823 (GRCm39) |
N300K |
possibly damaging |
Het |
| A130010J15Rik |
G |
A |
1: 192,857,065 (GRCm39) |
R139H |
probably benign |
Het |
| Aanat |
A |
C |
11: 116,487,681 (GRCm39) |
T127P |
possibly damaging |
Het |
| Acp4 |
G |
A |
7: 43,906,733 (GRCm39) |
|
probably benign |
Het |
| Arhgef5 |
T |
G |
6: 43,250,527 (GRCm39) |
I426S |
probably benign |
Het |
| Bcl2a1a |
T |
C |
9: 88,839,185 (GRCm39) |
S28P |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,288,384 (GRCm39) |
S272P |
possibly damaging |
Het |
| Cdk13 |
C |
A |
13: 17,978,542 (GRCm39) |
R232L |
unknown |
Het |
| Clrn2 |
A |
G |
5: 45,611,331 (GRCm39) |
D60G |
possibly damaging |
Het |
| Cnot6l |
A |
G |
5: 96,230,749 (GRCm39) |
L406P |
probably damaging |
Het |
| Cspg4 |
T |
G |
9: 56,797,622 (GRCm39) |
V1362G |
probably benign |
Het |
| Cspp1 |
C |
T |
1: 10,196,639 (GRCm39) |
S939L |
probably benign |
Het |
| Dcaf1 |
C |
T |
9: 106,713,818 (GRCm39) |
T145I |
probably benign |
Het |
| Ddx28 |
T |
C |
8: 106,736,733 (GRCm39) |
S442G |
probably benign |
Het |
| Dnajc3 |
A |
T |
14: 119,209,775 (GRCm39) |
R283S |
probably benign |
Het |
| Dsc1 |
G |
A |
18: 20,232,087 (GRCm39) |
T307I |
possibly damaging |
Het |
| Elovl5 |
T |
C |
9: 77,868,291 (GRCm39) |
Y68H |
probably damaging |
Het |
| Fam25a |
G |
A |
14: 34,077,266 (GRCm39) |
T17I |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,216,879 (GRCm39) |
E2137G |
probably damaging |
Het |
| Gm10142 |
A |
G |
10: 77,551,762 (GRCm39) |
Q41R |
unknown |
Het |
| Grm1 |
T |
C |
10: 10,564,775 (GRCm39) |
T1178A |
possibly damaging |
Het |
| Hhip |
A |
T |
8: 80,723,363 (GRCm39) |
H430Q |
probably damaging |
Het |
| Hip1 |
A |
G |
5: 135,478,676 (GRCm39) |
F178L |
probably damaging |
Het |
| Impa1 |
T |
A |
3: 10,393,430 (GRCm39) |
I58L |
probably benign |
Het |
| Irak4 |
T |
A |
15: 94,451,812 (GRCm39) |
V135E |
probably benign |
Het |
| Jup |
A |
C |
11: 100,274,237 (GRCm39) |
L151R |
probably damaging |
Het |
| Lrrn4cl |
T |
A |
19: 8,829,419 (GRCm39) |
N132K |
probably damaging |
Het |
| Mapkbp1 |
C |
A |
2: 119,851,664 (GRCm39) |
R863S |
probably benign |
Het |
| Or8k16 |
T |
C |
2: 85,519,866 (GRCm39) |
F31S |
probably damaging |
Het |
| Pramel14 |
T |
A |
4: 143,719,520 (GRCm39) |
M282L |
probably benign |
Het |
| Rrs1 |
T |
A |
1: 9,616,390 (GRCm39) |
S214R |
probably benign |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Rtca |
T |
A |
3: 116,293,225 (GRCm39) |
R195S |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,771,835 (GRCm39) |
S360R |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,371,194 (GRCm39) |
F293I |
possibly damaging |
Het |
| Snapc1 |
T |
C |
12: 74,017,115 (GRCm39) |
|
probably null |
Het |
| Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
C |
1: 174,032,925 (GRCm39) |
V994A |
probably damaging |
Het |
| Synpo2 |
T |
C |
3: 122,911,366 (GRCm39) |
E93G |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,191,341 (GRCm39) |
T985A |
unknown |
Het |
| Vmn1r18 |
T |
C |
6: 57,367,463 (GRCm39) |
I30M |
possibly damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,440,598 (GRCm39) |
V420A |
probably benign |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,081 (GRCm39) |
V251A |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,659,311 (GRCm39) |
I200N |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTCTGCAGCTGTCTGGTC -3'
(R):5'- GCTCTTCAGATGATGTTCACAG -3'
Sequencing Primer
(F):5'- CTAGCGTTTGGTAGCCTTCACAG -3'
(R):5'- CTTCAGATGATGTTCACAGAGATAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation