Incidental Mutation 'IGL01364:Rasa4'
| ID |
75852 |
| 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 # |
IGL01364
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
136112770-136140714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136124425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 158
(V158A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042135]
[ENSMUST00000100570]
|
| AlphaFold |
Q6PFQ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042135
AA Change: V158A
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037869
Gene: ENSMUSG00000004952
AA Change: V158A
| 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 |
possibly damaging
Transcript: ENSMUST00000100570
AA Change: V158A
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098136
Gene: ENSMUSG00000004952
AA Change: V158A
| 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 |
noncoding transcript
Transcript: ENSMUST00000125048
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125247
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131353
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134509
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157563
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199502
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
C |
A |
4: 40,181,380 (GRCm39) |
|
probably null |
Het |
| Acot6 |
T |
C |
12: 84,147,840 (GRCm39) |
V32A |
possibly damaging |
Het |
| Aff3 |
A |
T |
1: 38,574,762 (GRCm39) |
L73I |
probably damaging |
Het |
| Aldh1l2 |
C |
A |
10: 83,328,531 (GRCm39) |
D729Y |
probably damaging |
Het |
| Alox15 |
T |
C |
11: 70,235,992 (GRCm39) |
Q525R |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,747,677 (GRCm39) |
Y320H |
probably benign |
Het |
| Atxn3 |
C |
T |
12: 101,900,682 (GRCm39) |
|
probably benign |
Het |
| Caprin2 |
C |
A |
6: 148,774,526 (GRCm39) |
S262I |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,612,653 (GRCm39) |
|
probably null |
Het |
| Ccdc14 |
T |
A |
16: 34,543,583 (GRCm39) |
L647H |
probably damaging |
Het |
| Cd300lf |
T |
C |
11: 115,017,176 (GRCm39) |
D49G |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,308,081 (GRCm39) |
T1280A |
probably benign |
Het |
| Ddb1 |
T |
C |
19: 10,605,024 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
G |
11: 66,046,285 (GRCm39) |
Y88H |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,540,512 (GRCm39) |
T351A |
probably damaging |
Het |
| Evi2b |
T |
A |
11: 79,407,449 (GRCm39) |
Y42F |
probably benign |
Het |
| Fdps |
A |
T |
3: 89,001,577 (GRCm39) |
C274* |
probably null |
Het |
| Flnb |
A |
C |
14: 7,934,562 (GRCm38) |
|
probably null |
Het |
| Herc1 |
T |
A |
9: 66,306,643 (GRCm39) |
V917E |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,251,826 (GRCm39) |
Q854* |
probably null |
Het |
| Hmgxb3 |
T |
C |
18: 61,279,506 (GRCm39) |
Y769C |
probably damaging |
Het |
| Hps3 |
G |
T |
3: 20,057,469 (GRCm39) |
Q772K |
possibly damaging |
Het |
| Ifnab |
T |
C |
4: 88,608,987 (GRCm39) |
S160G |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,082,999 (GRCm39) |
E652G |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,397,716 (GRCm39) |
L255S |
probably damaging |
Het |
| Kbtbd7 |
T |
A |
14: 79,665,486 (GRCm39) |
D439E |
possibly damaging |
Het |
| Kcnn4 |
T |
C |
7: 24,081,128 (GRCm39) |
F289L |
probably benign |
Het |
| Mapk6 |
A |
C |
9: 75,296,072 (GRCm39) |
D475E |
possibly damaging |
Het |
| Msh5 |
A |
G |
17: 35,247,745 (GRCm39) |
V825A |
possibly damaging |
Het |
| Mst1 |
A |
G |
9: 107,958,800 (GRCm39) |
I111V |
probably benign |
Het |
| Myo1h |
T |
A |
5: 114,486,500 (GRCm39) |
I586N |
probably damaging |
Het |
| Or4k36 |
G |
T |
2: 111,146,015 (GRCm39) |
A64S |
probably damaging |
Het |
| Panx1 |
C |
T |
9: 14,932,761 (GRCm39) |
V80M |
probably damaging |
Het |
| Polr3b |
T |
A |
10: 84,531,533 (GRCm39) |
I803N |
probably benign |
Het |
| Rbp3 |
T |
A |
14: 33,676,145 (GRCm39) |
M31K |
possibly damaging |
Het |
| Rpl3l |
A |
G |
17: 24,951,404 (GRCm39) |
K154E |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,604,356 (GRCm39) |
|
probably null |
Het |
| Sox5 |
C |
T |
6: 144,062,198 (GRCm39) |
M151I |
probably damaging |
Het |
| Sun1 |
T |
A |
5: 139,220,496 (GRCm39) |
L290Q |
probably damaging |
Het |
| Tm9sf2 |
T |
A |
14: 122,380,872 (GRCm39) |
I155N |
probably damaging |
Het |
| Trmt9b |
A |
G |
8: 36,979,501 (GRCm39) |
K368R |
probably benign |
Het |
| Tuft1 |
A |
G |
3: 94,542,810 (GRCm39) |
|
probably benign |
Het |
| Ubash3b |
A |
G |
9: 40,929,311 (GRCm39) |
|
probably null |
Het |
| Vwa1 |
A |
G |
4: 155,855,200 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
T |
C |
6: 119,914,372 (GRCm39) |
E80G |
probably damaging |
Het |
| Xpot |
C |
A |
10: 121,440,399 (GRCm39) |
A611S |
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 |
|
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 |
|
R9685:Rasa4
|
UTSW |
5 |
136,124,383 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2013-10-07 |
Incidental Mutation