Incidental Mutation 'R4243:Rasa1'
| ID |
320317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasa1
|
| Ensembl Gene |
ENSMUSG00000021549 |
| Gene Name |
RAS p21 protein activator 1 |
| Synonyms |
Gap, p120-rasGAP |
| MMRRC Submission |
041643-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4243 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
85362899-85437249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85392314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 407
(Y407H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109552]
|
| AlphaFold |
E9PYG6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109552
AA Change: Y407H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105179
Gene: ENSMUSG00000021549
AA Change: Y407H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
142 |
N/A |
INTRINSIC |
|
SH2
|
170 |
253 |
9.44e-29 |
SMART |
|
SH3
|
273 |
331 |
1.7e-10 |
SMART |
|
SH2
|
340 |
423 |
7.44e-27 |
SMART |
|
PH
|
466 |
570 |
5.11e-20 |
SMART |
|
C2
|
586 |
680 |
6.9e-10 |
SMART |
|
RasGAP
|
689 |
1035 |
2.77e-156 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132711
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153231
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223598
|
| Meta Mutation Damage Score |
0.6092 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced embryonic growth associated with defects of both yolk sac and embryonic vascular systems resulting in lethality by embryonic day 10.5. Mice homozygous for a knock-in allele exhibit increased sensitivity to induced cell death and colitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
C |
A |
5: 114,951,855 (GRCm39) |
R40L |
possibly damaging |
Het |
| 4930449A18Rik |
T |
A |
3: 59,733,203 (GRCm39) |
|
noncoding transcript |
Het |
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| 4933409G03Rik |
C |
T |
2: 68,423,887 (GRCm39) |
|
probably benign |
Het |
| Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
| Birc2 |
T |
C |
9: 7,834,386 (GRCm39) |
T32A |
probably benign |
Het |
| Cdh13 |
T |
A |
8: 119,968,996 (GRCm39) |
V451E |
probably damaging |
Het |
| Cdh20 |
C |
T |
1: 104,869,868 (GRCm39) |
T196I |
probably damaging |
Het |
| Cdt1 |
A |
G |
8: 123,298,157 (GRCm39) |
M383V |
probably benign |
Het |
| Chrna9 |
T |
C |
5: 66,092,379 (GRCm39) |
|
probably null |
Het |
| Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,795,141 (GRCm39) |
S959P |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,600,583 (GRCm39) |
I647T |
probably benign |
Het |
| Cyld |
A |
T |
8: 89,457,383 (GRCm39) |
R536* |
probably null |
Het |
| Ddx1 |
A |
T |
12: 13,290,910 (GRCm39) |
C68* |
probably null |
Het |
| Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
| Dynlt1b |
T |
C |
17: 6,697,639 (GRCm39) |
|
probably null |
Het |
| Faxc |
G |
A |
4: 21,982,491 (GRCm39) |
R310Q |
probably benign |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Frmd5 |
C |
A |
2: 121,393,363 (GRCm39) |
|
probably null |
Het |
| Gm5174 |
C |
A |
10: 86,492,144 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa12b |
C |
T |
2: 130,983,778 (GRCm39) |
H293Y |
possibly damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,710,501 (GRCm39) |
V234A |
probably benign |
Het |
| Jkamp |
G |
A |
12: 72,140,799 (GRCm39) |
V108I |
probably benign |
Het |
| Mettl23 |
T |
C |
11: 116,739,126 (GRCm39) |
V72A |
possibly damaging |
Het |
| Morc2b |
T |
A |
17: 33,355,375 (GRCm39) |
Y799F |
probably benign |
Het |
| Mtmr11 |
T |
A |
3: 96,075,393 (GRCm39) |
C358S |
probably damaging |
Het |
| Myo18b |
G |
A |
5: 112,840,261 (GRCm39) |
H2511Y |
possibly damaging |
Het |
| Mysm1 |
A |
G |
4: 94,857,248 (GRCm39) |
V120A |
probably benign |
Het |
| Nhlrc1 |
C |
T |
13: 47,167,502 (GRCm39) |
V252I |
probably benign |
Het |
| Or12j3 |
G |
A |
7: 139,952,857 (GRCm39) |
A222V |
probably benign |
Het |
| Or2ak6 |
T |
G |
11: 58,593,277 (GRCm39) |
L250R |
probably damaging |
Het |
| Or7g35 |
C |
A |
9: 19,495,854 (GRCm39) |
T7K |
probably damaging |
Het |
| Pard3 |
G |
A |
8: 128,098,128 (GRCm39) |
A390T |
probably benign |
Het |
| Pcdhga1 |
T |
A |
18: 37,796,605 (GRCm39) |
D536E |
probably damaging |
Het |
| Phactr3 |
G |
A |
2: 177,924,982 (GRCm39) |
|
probably null |
Het |
| Pkn2 |
T |
C |
3: 142,526,339 (GRCm39) |
N413D |
possibly damaging |
Het |
| Ppp1r12b |
T |
G |
1: 134,709,846 (GRCm39) |
|
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,083,649 (GRCm39) |
|
probably null |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,304 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
| Slc27a1 |
A |
G |
8: 72,037,617 (GRCm39) |
T535A |
probably benign |
Het |
| Stra6 |
G |
A |
9: 58,050,309 (GRCm39) |
A237T |
probably benign |
Het |
| Tor1aip2 |
A |
G |
1: 155,941,182 (GRCm39) |
E496G |
probably damaging |
Het |
| Usp47 |
A |
G |
7: 111,707,836 (GRCm39) |
D1294G |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,643,187 (GRCm39) |
|
probably null |
Het |
| Vmn1r79 |
T |
A |
7: 11,910,971 (GRCm39) |
C284* |
probably null |
Het |
| Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
| Zbtb40 |
C |
T |
4: 136,745,860 (GRCm39) |
A58T |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,518,952 (GRCm39) |
T25A |
probably damaging |
Het |
|
| Other mutations in Rasa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00863:Rasa1
|
APN |
13 |
85,436,548 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01396:Rasa1
|
APN |
13 |
85,406,561 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01670:Rasa1
|
APN |
13 |
85,373,609 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02095:Rasa1
|
APN |
13 |
85,364,274 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02822:Rasa1
|
APN |
13 |
85,400,633 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03126:Rasa1
|
APN |
13 |
85,404,515 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
F5770:Rasa1
|
UTSW |
13 |
85,375,064 (GRCm39) |
splice site |
probably null |
|
|
PIT4458001:Rasa1
|
UTSW |
13 |
85,375,237 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1393:Rasa1
|
UTSW |
13 |
85,371,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1441:Rasa1
|
UTSW |
13 |
85,400,540 (GRCm39) |
splice site |
probably null |
|
|
R1907:Rasa1
|
UTSW |
13 |
85,374,691 (GRCm39) |
nonsense |
probably null |
|
|
R4593:Rasa1
|
UTSW |
13 |
85,386,340 (GRCm39) |
splice site |
probably null |
|
|
R4687:Rasa1
|
UTSW |
13 |
85,374,754 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4689:Rasa1
|
UTSW |
13 |
85,386,282 (GRCm39) |
nonsense |
probably null |
|
|
R4753:Rasa1
|
UTSW |
13 |
85,436,509 (GRCm39) |
splice site |
probably null |
|
|
R4758:Rasa1
|
UTSW |
13 |
85,382,567 (GRCm39) |
missense |
probably benign |
|
|
R4774:Rasa1
|
UTSW |
13 |
85,398,621 (GRCm39) |
intron |
probably benign |
|
|
R5363:Rasa1
|
UTSW |
13 |
85,436,674 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5375:Rasa1
|
UTSW |
13 |
85,437,022 (GRCm39) |
intron |
probably benign |
|
|
R6134:Rasa1
|
UTSW |
13 |
85,374,745 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6190:Rasa1
|
UTSW |
13 |
85,381,814 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6755:Rasa1
|
UTSW |
13 |
85,374,717 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7564:Rasa1
|
UTSW |
13 |
85,376,827 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7862:Rasa1
|
UTSW |
13 |
85,403,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9138:Rasa1
|
UTSW |
13 |
85,369,635 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9280:Rasa1
|
UTSW |
13 |
85,436,732 (GRCm39) |
missense |
unknown |
|
|
R9328:Rasa1
|
UTSW |
13 |
85,403,575 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9340:Rasa1
|
UTSW |
13 |
85,369,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9648:Rasa1
|
UTSW |
13 |
85,436,690 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
RF016:Rasa1
|
UTSW |
13 |
85,371,607 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
X0023:Rasa1
|
UTSW |
13 |
85,381,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTGTGAGCCTGAAACAAAG -3'
(R):5'- CACTGAGAATAACATGGGTGGTTTG -3'
Sequencing Primer
(F):5'- GTGAGCCTGAAACAAAGTTTTCTAGG -3'
(R):5'- CATGGGTGGTTTGAAACATAAAATG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation