Incidental Mutation 'R2966:Rasal1'
| ID |
264648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasal1
|
| Ensembl Gene |
ENSMUSG00000029602 |
| Gene Name |
RAS protein activator like 1 (GAP1 like) |
| Synonyms |
MRASAL |
| MMRRC Submission |
040522-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2966 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
120786877-120817662 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120809685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 530
(L530Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123266
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031606]
[ENSMUST00000156722]
|
| AlphaFold |
Q9Z268 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031606
AA Change: L530Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031606
Gene: ENSMUSG00000029602
AA Change: L530Q
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
113 |
7.74e-13 |
SMART |
|
C2
|
134 |
231 |
2e-15 |
SMART |
|
RasGAP
|
241 |
604 |
3.96e-166 |
SMART |
|
PH
|
566 |
674 |
2.76e-16 |
SMART |
|
BTK
|
674 |
710 |
2.24e-4 |
SMART |
|
low complexity region
|
731 |
745 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156722
AA Change: L530Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123266
Gene: ENSMUSG00000029602
AA Change: L530Q
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
113 |
7.74e-13 |
SMART |
|
C2
|
134 |
231 |
2e-15 |
SMART |
|
RasGAP
|
241 |
604 |
3.96e-166 |
SMART |
|
PH
|
566 |
674 |
2.76e-16 |
SMART |
|
BTK
|
674 |
710 |
2.24e-4 |
SMART |
|
low complexity region
|
731 |
745 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4533 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| 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 member of the GAP1 family of GTPase-activating proteins. These proteins stimulate 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. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
T |
7: 41,275,829 (GRCm39) |
R511* |
probably null |
Het |
| Adamts1 |
A |
G |
16: 85,593,662 (GRCm39) |
V691A |
possibly damaging |
Het |
| Add1 |
C |
A |
5: 34,788,058 (GRCm39) |
D702E |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,066,357 (GRCm39) |
D148G |
probably damaging |
Het |
| Asprv1 |
T |
A |
6: 86,605,348 (GRCm39) |
C65S |
probably damaging |
Het |
| Atp11a |
A |
T |
8: 12,897,853 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
T |
C |
5: 67,805,049 (GRCm39) |
D1022G |
probably benign |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Bnc2 |
G |
A |
4: 84,211,754 (GRCm39) |
A300V |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,836,798 (GRCm39) |
K2256E |
probably benign |
Het |
| Cfap300 |
C |
T |
9: 8,027,175 (GRCm39) |
R121Q |
probably damaging |
Het |
| Chrna2 |
T |
C |
14: 66,386,817 (GRCm39) |
V321A |
possibly damaging |
Het |
| Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
| Col2a1 |
A |
G |
15: 97,873,976 (GRCm39) |
I1402T |
unknown |
Het |
| Ddx43 |
C |
A |
9: 78,313,661 (GRCm39) |
Y197* |
probably null |
Het |
| Dyrk2 |
T |
A |
10: 118,696,242 (GRCm39) |
K339* |
probably null |
Het |
| Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
| Fgd6 |
T |
A |
10: 93,880,056 (GRCm39) |
F303L |
probably benign |
Het |
| Fstl3 |
T |
C |
10: 79,617,057 (GRCm39) |
V200A |
probably benign |
Het |
| Gabra5 |
T |
C |
7: 57,058,389 (GRCm39) |
E453G |
probably damaging |
Het |
| Gatd1 |
T |
A |
7: 140,989,080 (GRCm39) |
D193V |
probably damaging |
Het |
| Gm6871 |
T |
G |
7: 41,222,864 (GRCm39) |
T75P |
probably benign |
Het |
| Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
| Has2 |
A |
G |
15: 56,545,533 (GRCm39) |
L23P |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,050,761 (GRCm39) |
S664P |
probably benign |
Het |
| Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,745,154 (GRCm39) |
V1807A |
possibly damaging |
Het |
| Myh1 |
A |
G |
11: 67,105,410 (GRCm39) |
K1067E |
probably damaging |
Het |
| Nav2 |
C |
T |
7: 49,206,780 (GRCm39) |
T1535I |
probably damaging |
Het |
| Noa1 |
T |
C |
5: 77,454,191 (GRCm39) |
E483G |
possibly damaging |
Het |
| Nsd2 |
G |
C |
5: 34,003,466 (GRCm39) |
E205D |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,731,164 (GRCm39) |
L3222P |
unknown |
Het |
| Pnpla2 |
C |
T |
7: 141,038,391 (GRCm39) |
L215F |
probably damaging |
Het |
| Prss35 |
A |
G |
9: 86,637,635 (GRCm39) |
D135G |
probably damaging |
Het |
| Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
| Rab21 |
T |
C |
10: 115,130,814 (GRCm39) |
N164S |
probably benign |
Het |
| Rbm15b |
A |
G |
9: 106,762,791 (GRCm39) |
L459P |
probably damaging |
Het |
| Recql |
A |
G |
6: 142,309,313 (GRCm39) |
V586A |
probably benign |
Het |
| Rprd2 |
A |
T |
3: 95,673,745 (GRCm39) |
|
probably null |
Het |
| Sis |
T |
A |
3: 72,796,343 (GRCm39) |
I1813L |
probably benign |
Het |
| Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,764,469 (GRCm39) |
V58A |
probably damaging |
Het |
| Trav7d-4 |
C |
T |
14: 53,007,584 (GRCm39) |
Q26* |
probably null |
Het |
| Usp48 |
G |
A |
4: 137,341,073 (GRCm39) |
V358M |
probably damaging |
Het |
| Vmn1r39 |
A |
C |
6: 66,781,715 (GRCm39) |
I201S |
possibly damaging |
Het |
| Zcchc8 |
A |
G |
5: 123,858,930 (GRCm39) |
S22P |
probably benign |
Het |
|
| Other mutations in Rasal1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Rasal1
|
APN |
5 |
120,802,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01700:Rasal1
|
APN |
5 |
120,814,882 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01790:Rasal1
|
APN |
5 |
120,808,383 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01866:Rasal1
|
APN |
5 |
120,813,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02143:Rasal1
|
APN |
5 |
120,790,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02527:Rasal1
|
APN |
5 |
120,804,469 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02565:Rasal1
|
APN |
5 |
120,814,845 (GRCm39) |
splice site |
probably benign |
|
|
IGL02710:Rasal1
|
APN |
5 |
120,804,496 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
PIT4618001:Rasal1
|
UTSW |
5 |
120,808,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0270:Rasal1
|
UTSW |
5 |
120,812,794 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0281:Rasal1
|
UTSW |
5 |
120,812,670 (GRCm39) |
missense |
probably benign |
|
|
R0673:Rasal1
|
UTSW |
5 |
120,808,449 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1227:Rasal1
|
UTSW |
5 |
120,808,372 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1475:Rasal1
|
UTSW |
5 |
120,801,047 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1486:Rasal1
|
UTSW |
5 |
120,792,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1557:Rasal1
|
UTSW |
5 |
120,814,914 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1651:Rasal1
|
UTSW |
5 |
120,790,910 (GRCm39) |
nonsense |
probably null |
|
|
R1792:Rasal1
|
UTSW |
5 |
120,802,821 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2148:Rasal1
|
UTSW |
5 |
120,800,096 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2964:Rasal1
|
UTSW |
5 |
120,809,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2983:Rasal1
|
UTSW |
5 |
120,792,927 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4090:Rasal1
|
UTSW |
5 |
120,813,674 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4205:Rasal1
|
UTSW |
5 |
120,797,628 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4643:Rasal1
|
UTSW |
5 |
120,817,029 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4979:Rasal1
|
UTSW |
5 |
120,816,741 (GRCm39) |
missense |
probably benign |
|
|
R5171:Rasal1
|
UTSW |
5 |
120,801,829 (GRCm39) |
missense |
probably benign |
|
|
R5187:Rasal1
|
UTSW |
5 |
120,813,460 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5877:Rasal1
|
UTSW |
5 |
120,817,135 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5924:Rasal1
|
UTSW |
5 |
120,813,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6037:Rasal1
|
UTSW |
5 |
120,787,566 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6037:Rasal1
|
UTSW |
5 |
120,787,566 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6136:Rasal1
|
UTSW |
5 |
120,813,543 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6159:Rasal1
|
UTSW |
5 |
120,797,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6292:Rasal1
|
UTSW |
5 |
120,797,685 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6548:Rasal1
|
UTSW |
5 |
120,812,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7042:Rasal1
|
UTSW |
5 |
120,802,025 (GRCm39) |
splice site |
probably null |
|
|
R7194:Rasal1
|
UTSW |
5 |
120,813,557 (GRCm39) |
missense |
probably benign |
|
|
R7356:Rasal1
|
UTSW |
5 |
120,792,890 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7406:Rasal1
|
UTSW |
5 |
120,801,002 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7662:Rasal1
|
UTSW |
5 |
120,800,249 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8089:Rasal1
|
UTSW |
5 |
120,809,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8320:Rasal1
|
UTSW |
5 |
120,804,420 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8321:Rasal1
|
UTSW |
5 |
120,804,420 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8362:Rasal1
|
UTSW |
5 |
120,813,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8368:Rasal1
|
UTSW |
5 |
120,809,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8379:Rasal1
|
UTSW |
5 |
120,804,420 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8380:Rasal1
|
UTSW |
5 |
120,804,420 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8383:Rasal1
|
UTSW |
5 |
120,804,420 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8710:Rasal1
|
UTSW |
5 |
120,801,002 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8817:Rasal1
|
UTSW |
5 |
120,808,416 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9258:Rasal1
|
UTSW |
5 |
120,793,155 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9300:Rasal1
|
UTSW |
5 |
120,802,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9394:Rasal1
|
UTSW |
5 |
120,816,746 (GRCm39) |
missense |
probably benign |
|
|
R9746:Rasal1
|
UTSW |
5 |
120,800,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0057:Rasal1
|
UTSW |
5 |
120,802,577 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Rasal1
|
UTSW |
5 |
120,802,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Rasal1
|
UTSW |
5 |
120,790,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rasal1
|
UTSW |
5 |
120,814,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGATAGAAATGGGCAGTGC -3'
(R):5'- TGCAGGTCCAGAGTTTTAGTACTG -3'
Sequencing Primer
(F):5'- TCATCTGGGCAGGAGCTG -3'
(R):5'- AGGACTCACCCTCATCCT -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation