Incidental Mutation 'IGL01835:Rasa4'
| ID |
154918 |
| 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 # |
IGL01835
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
136112770-136140714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136131461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 485
(H485R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042135]
[ENSMUST00000100570]
|
| AlphaFold |
Q6PFQ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042135
AA Change: H485R
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000037869
Gene: ENSMUSG00000004952
AA Change: H485R
| 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
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000152723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184713
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,213,957 (GRCm39) |
M728K |
probably benign |
Het |
| 2700049A03Rik |
T |
A |
12: 71,213,955 (GRCm39) |
Y727* |
probably null |
Het |
| Adam23 |
T |
C |
1: 63,582,278 (GRCm39) |
Y309H |
probably damaging |
Het |
| Ash2l |
C |
T |
8: 26,329,868 (GRCm39) |
V97M |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,149,588 (GRCm39) |
F83L |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,112,784 (GRCm39) |
S1607T |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,260,435 (GRCm39) |
M969L |
possibly damaging |
Het |
| Dse |
T |
A |
10: 34,036,213 (GRCm39) |
|
probably benign |
Het |
| Dusp22 |
C |
T |
13: 30,892,666 (GRCm39) |
|
probably null |
Het |
| F5 |
G |
A |
1: 164,021,937 (GRCm39) |
V1471I |
probably benign |
Het |
| Gm14403 |
A |
T |
2: 177,199,049 (GRCm39) |
E48D |
probably damaging |
Het |
| Gm6309 |
G |
A |
5: 146,105,085 (GRCm39) |
A276V |
probably damaging |
Het |
| Icam4 |
A |
T |
9: 20,941,086 (GRCm39) |
T113S |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,163,650 (GRCm39) |
V236A |
probably benign |
Het |
| Mrc2 |
T |
G |
11: 105,227,503 (GRCm39) |
F579V |
probably damaging |
Het |
| Myl4 |
T |
A |
11: 104,468,279 (GRCm39) |
M1K |
probably null |
Het |
| Oas3 |
A |
T |
5: 120,904,193 (GRCm39) |
C560* |
probably null |
Het |
| Or2w25 |
T |
C |
11: 59,504,165 (GRCm39) |
V125A |
probably damaging |
Het |
| Or52e18 |
T |
C |
7: 104,609,669 (GRCm39) |
N90S |
probably benign |
Het |
| Prlr |
G |
A |
15: 10,329,129 (GRCm39) |
V535I |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,165,058 (GRCm39) |
T48A |
probably benign |
Het |
| Rnf13 |
A |
T |
3: 57,728,007 (GRCm39) |
H229L |
probably damaging |
Het |
| Rpap3 |
T |
C |
15: 97,601,120 (GRCm39) |
D39G |
possibly damaging |
Het |
| Sec23ip |
T |
A |
7: 128,357,035 (GRCm39) |
|
probably null |
Het |
| Sirpa |
T |
A |
2: 129,457,484 (GRCm39) |
F186Y |
possibly damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,268,040 (GRCm39) |
Y473H |
probably benign |
Het |
| Slc36a2 |
T |
C |
11: 55,053,559 (GRCm39) |
I360V |
probably benign |
Het |
| Spg11 |
G |
A |
2: 121,918,705 (GRCm39) |
R975C |
probably benign |
Het |
| Sppl2b |
T |
A |
10: 80,701,175 (GRCm39) |
I350N |
probably damaging |
Het |
| Tas2r139 |
A |
T |
6: 42,118,366 (GRCm39) |
N166I |
probably benign |
Het |
| Trav14n-3 |
A |
G |
14: 53,607,786 (GRCm39) |
T39A |
possibly damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,950,015 (GRCm39) |
M812V |
probably benign |
Het |
| Vmn2r87 |
A |
C |
10: 130,314,978 (GRCm39) |
F203V |
probably damaging |
Het |
| Vwde |
A |
C |
6: 13,186,823 (GRCm39) |
V888G |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,749 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R9685:Rasa4
|
UTSW |
5 |
136,124,383 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2014-02-04 |
Incidental Mutation