Incidental Mutation 'R5729:Rasa4'
| ID |
452649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasa4
|
| Ensembl Gene |
ENSMUSG00000004952 |
| Gene Name |
RAS p21 protein activator 4 |
| Synonyms |
|
| MMRRC Submission |
043346-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R5729 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
136112770-136140714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136122016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 108
(V108A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042135]
[ENSMUST00000100570]
|
| AlphaFold |
Q6PFQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042135
AA Change: V108A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037869
Gene: ENSMUSG00000004952
AA Change: V108A
| 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: V108A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098136
Gene: ENSMUSG00000004952
AA Change: V108A
| 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: ENSMUST00000140972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157563
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (62/64) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss2 |
A |
T |
1: 177,623,824 (GRCm39) |
V46E |
possibly damaging |
Het |
| Aldoart2 |
T |
C |
12: 55,612,690 (GRCm39) |
V205A |
probably benign |
Het |
| Atp1a2 |
A |
G |
1: 172,120,938 (GRCm39) |
S45P |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,411,851 (GRCm39) |
K29E |
possibly damaging |
Het |
| AU040320 |
T |
A |
4: 126,724,208 (GRCm39) |
D428E |
probably damaging |
Het |
| Bend7 |
T |
C |
2: 4,768,085 (GRCm39) |
L347P |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,140,037 (GRCm39) |
L9* |
probably null |
Het |
| Ccdc103 |
A |
T |
11: 102,773,904 (GRCm39) |
I50F |
probably damaging |
Het |
| Cdc5l |
T |
C |
17: 45,737,495 (GRCm39) |
I88V |
probably benign |
Het |
| Cracr2a |
T |
C |
6: 127,584,199 (GRCm39) |
V86A |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dgkd |
C |
T |
1: 87,864,054 (GRCm39) |
Q90* |
probably null |
Het |
| Dnajc21 |
A |
T |
15: 10,449,682 (GRCm39) |
D446E |
probably benign |
Het |
| Fam13a |
T |
G |
6: 58,916,292 (GRCm39) |
R648S |
probably damaging |
Het |
| Gabrg2 |
A |
G |
11: 41,858,450 (GRCm39) |
V226A |
probably damaging |
Het |
| Gm5499 |
A |
T |
17: 87,385,944 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Irf2bp1 |
G |
T |
7: 18,739,172 (GRCm39) |
E271* |
probably null |
Het |
| Krt86 |
T |
G |
15: 101,374,429 (GRCm39) |
V274G |
probably benign |
Het |
| Lats2 |
A |
T |
14: 57,960,192 (GRCm39) |
C151S |
probably benign |
Het |
| Mapk3 |
A |
T |
7: 126,363,979 (GRCm39) |
T254S |
probably benign |
Het |
| Mat2b |
A |
T |
11: 40,573,373 (GRCm39) |
M202K |
probably damaging |
Het |
| Mos |
A |
G |
4: 3,870,971 (GRCm39) |
Y282H |
probably benign |
Het |
| Myo3b |
A |
G |
2: 69,936,083 (GRCm39) |
K108R |
probably damaging |
Het |
| Naa16 |
A |
G |
14: 79,593,220 (GRCm39) |
Y417H |
probably damaging |
Het |
| Oat |
A |
T |
7: 132,159,984 (GRCm39) |
I412N |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,013,272 (GRCm39) |
I278N |
probably damaging |
Het |
| Pcdh1 |
A |
T |
18: 38,335,999 (GRCm39) |
V73D |
probably damaging |
Het |
| Pigv |
A |
T |
4: 133,392,134 (GRCm39) |
Y345* |
probably null |
Het |
| Pitpnc1 |
G |
T |
11: 107,228,264 (GRCm39) |
F34L |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,942,838 (GRCm39) |
L1282P |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,719,762 (GRCm39) |
D384G |
probably benign |
Het |
| Ppp2ca |
G |
A |
11: 52,008,856 (GRCm39) |
E119K |
probably damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,459 (GRCm39) |
N323I |
probably damaging |
Het |
| Rbm14 |
A |
G |
19: 4,852,577 (GRCm39) |
|
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,434,795 (GRCm39) |
V657E |
probably damaging |
Het |
| Rhcg |
A |
T |
7: 79,250,371 (GRCm39) |
N237K |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,397,617 (GRCm39) |
Q1302R |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,818,645 (GRCm39) |
M287V |
possibly damaging |
Het |
| Scn7a |
A |
G |
2: 66,572,301 (GRCm39) |
|
probably null |
Het |
| Sema6a |
C |
T |
18: 47,414,410 (GRCm39) |
C506Y |
probably damaging |
Het |
| Senp1 |
G |
T |
15: 97,964,412 (GRCm39) |
H267Q |
possibly damaging |
Het |
| Skor2 |
A |
G |
18: 76,946,578 (GRCm39) |
E100G |
unknown |
Het |
| Slc38a11 |
A |
T |
2: 65,147,365 (GRCm39) |
C371S |
probably benign |
Het |
| Snai3 |
G |
A |
8: 123,181,629 (GRCm39) |
A276V |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Spag6 |
C |
T |
2: 18,720,525 (GRCm39) |
T99I |
probably benign |
Het |
| Spop |
A |
G |
11: 95,376,675 (GRCm39) |
I243V |
possibly damaging |
Het |
| Sra1 |
A |
T |
18: 36,800,496 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,288,485 (GRCm39) |
S140T |
possibly damaging |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Tbc1d2b |
G |
C |
9: 90,089,925 (GRCm39) |
A868G |
probably benign |
Het |
| Tead2 |
A |
G |
7: 44,870,166 (GRCm39) |
|
probably benign |
Het |
| Tmem53 |
C |
A |
4: 117,125,669 (GRCm39) |
H261N |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,844,627 (GRCm39) |
S932T |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,381,339 (GRCm39) |
D827E |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,334,733 (GRCm39) |
E309G |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,758,806 (GRCm39) |
S1026G |
probably benign |
Het |
| Zfp646 |
G |
A |
7: 127,484,626 (GRCm39) |
A1760T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCACTTCCAACTGCTGC -3'
(R):5'- GACTAAGCCCTGTCAGAGTC -3'
Sequencing Primer
(F):5'- CTCAGCCCCTGCGCCTC -3'
(R):5'- ATCTGGGCAGTCAGGTCATCTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation