Incidental Mutation 'R0829:Rasl10b'
| ID |
78435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasl10b
|
| Ensembl Gene |
ENSMUSG00000020684 |
| Gene Name |
RAS-like, family 10, member B |
| Synonyms |
B230331P10Rik, VTS58635 |
| MMRRC Submission |
039009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R0829 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83299963-83311865 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 83308665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021022]
[ENSMUST00000021022]
[ENSMUST00000052521]
[ENSMUST00000108140]
[ENSMUST00000108140]
[ENSMUST00000147301]
[ENSMUST00000164425]
[ENSMUST00000164425]
[ENSMUST00000175848]
[ENSMUST00000175848]
|
| AlphaFold |
Q5SSG5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021022
|
| SMART Domains |
Protein: ENSMUSP00000021022
Gene: ENSMUSG00000020684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miro
|
6 |
131 |
2.7e-16 |
PFAM |
|
Pfam:Ras
|
6 |
178 |
1e-24 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000021022
|
| SMART Domains |
Protein: ENSMUSP00000021022
Gene: ENSMUSG00000020684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miro
|
6 |
131 |
2.7e-16 |
PFAM |
|
Pfam:Ras
|
6 |
178 |
1e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052521
|
| SMART Domains |
Protein: ENSMUSP00000051907
Gene: ENSMUSG00000020686
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
CH
|
34 |
154 |
2.15e-15 |
SMART |
|
low complexity region
|
167 |
200 |
N/A |
INTRINSIC |
|
Pfam:GAS2
|
206 |
274 |
1.2e-35 |
PFAM |
|
low complexity region
|
444 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
775 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
827 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108140
|
| SMART Domains |
Protein: ENSMUSP00000103775
Gene: ENSMUSG00000020684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miro
|
6 |
131 |
2.7e-16 |
PFAM |
|
Pfam:Ras
|
6 |
178 |
1e-24 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108140
|
| SMART Domains |
Protein: ENSMUSP00000103775
Gene: ENSMUSG00000020684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miro
|
6 |
131 |
2.7e-16 |
PFAM |
|
Pfam:Ras
|
6 |
178 |
1e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147301
|
| SMART Domains |
Protein: ENSMUSP00000119454
Gene: ENSMUSG00000020686
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
CH
|
34 |
154 |
2.15e-15 |
SMART |
|
low complexity region
|
167 |
185 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000164425
|
| SMART Domains |
Protein: ENSMUSP00000132696
Gene: ENSMUSG00000020684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
6 |
178 |
6.6e-25 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000164425
|
| SMART Domains |
Protein: ENSMUSP00000132696
Gene: ENSMUSG00000020684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
6 |
178 |
6.6e-25 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000175848
|
| SMART Domains |
Protein: ENSMUSP00000135803
Gene: ENSMUSG00000020684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
6 |
120 |
2.3e-12 |
PFAM |
|
Pfam:Miro
|
6 |
123 |
8.2e-13 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000175848
|
| SMART Domains |
Protein: ENSMUSP00000135803
Gene: ENSMUSG00000020684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
6 |
120 |
2.3e-12 |
PFAM |
|
Pfam:Miro
|
6 |
123 |
8.2e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.7%
|
| Validation Efficiency |
95% (37/39) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele have smaller than normal large dense-core vesicles in atrial myocytes and exhibit impaired atrial natriuretic peptide secretion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprh |
C |
A |
16: 38,266,150 (GRCm39) |
A331S |
probably benign |
Het |
| Atp4b |
T |
G |
8: 13,440,098 (GRCm39) |
T83P |
probably damaging |
Het |
| Ccdc177 |
T |
C |
12: 80,806,253 (GRCm39) |
E7G |
probably damaging |
Het |
| Cercam |
G |
T |
2: 29,761,079 (GRCm39) |
R126L |
probably damaging |
Het |
| Cpb1 |
C |
T |
3: 20,306,107 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,543,238 (GRCm39) |
M2311V |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,896,002 (GRCm39) |
V2458L |
probably benign |
Het |
| Dnajb6 |
T |
C |
5: 29,990,020 (GRCm39) |
|
probably benign |
Het |
| Dst |
A |
G |
1: 34,202,301 (GRCm39) |
T210A |
probably damaging |
Het |
| Gfpt1 |
T |
C |
6: 87,030,847 (GRCm39) |
|
probably benign |
Het |
| Grin1 |
C |
T |
2: 25,188,460 (GRCm39) |
D429N |
probably benign |
Het |
| Iqck |
T |
C |
7: 118,499,111 (GRCm39) |
|
probably null |
Het |
| Itgb5 |
A |
G |
16: 33,764,571 (GRCm39) |
I359V |
probably benign |
Het |
| Lemd3 |
T |
C |
10: 120,814,988 (GRCm39) |
T82A |
probably benign |
Het |
| Lrrc74b |
A |
G |
16: 17,376,254 (GRCm39) |
|
probably benign |
Het |
| Mitf |
A |
T |
6: 97,980,869 (GRCm39) |
I246F |
possibly damaging |
Het |
| Msgn1 |
C |
T |
12: 11,258,525 (GRCm39) |
R142Q |
probably damaging |
Het |
| Myh8 |
C |
A |
11: 67,174,326 (GRCm39) |
|
probably benign |
Het |
| Nacad |
C |
A |
11: 6,551,158 (GRCm39) |
V678L |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,725,596 (GRCm39) |
|
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or1s2 |
T |
A |
19: 13,758,556 (GRCm39) |
D191E |
probably damaging |
Het |
| Or4c100 |
A |
T |
2: 88,356,572 (GRCm39) |
Y215F |
probably damaging |
Het |
| Or4l15 |
C |
A |
14: 50,198,503 (GRCm39) |
V9L |
probably benign |
Het |
| Or6d13 |
A |
G |
6: 116,518,226 (GRCm39) |
T271A |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,338,598 (GRCm39) |
V1068E |
probably damaging |
Het |
| Plat |
A |
G |
8: 23,262,273 (GRCm39) |
Y99C |
probably damaging |
Het |
| Potefam1 |
G |
A |
2: 111,028,450 (GRCm39) |
T42I |
possibly damaging |
Het |
| Rbm25 |
T |
C |
12: 83,707,150 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,316,570 (GRCm39) |
D998G |
probably damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,119,684 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,687,899 (GRCm39) |
I507M |
probably benign |
Het |
| Srebf2 |
T |
A |
15: 82,061,790 (GRCm39) |
|
probably null |
Het |
| Stimate |
C |
T |
14: 30,584,842 (GRCm39) |
R56C |
probably damaging |
Het |
| Tert |
T |
C |
13: 73,792,504 (GRCm39) |
C924R |
probably damaging |
Het |
| Usp19 |
T |
C |
9: 108,371,000 (GRCm39) |
S221P |
probably benign |
Het |
| Xkr4 |
C |
T |
1: 3,741,469 (GRCm39) |
A35T |
possibly damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
|
| Other mutations in Rasl10b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02003:Rasl10b
|
APN |
11 |
83,308,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0378:Rasl10b
|
UTSW |
11 |
83,309,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0772:Rasl10b
|
UTSW |
11 |
83,308,665 (GRCm39) |
splice site |
probably null |
|
|
R0773:Rasl10b
|
UTSW |
11 |
83,308,665 (GRCm39) |
splice site |
probably null |
|
|
R0830:Rasl10b
|
UTSW |
11 |
83,308,665 (GRCm39) |
splice site |
probably null |
|
|
R0831:Rasl10b
|
UTSW |
11 |
83,308,665 (GRCm39) |
splice site |
probably null |
|
|
R1363:Rasl10b
|
UTSW |
11 |
83,308,665 (GRCm39) |
splice site |
probably null |
|
|
R1364:Rasl10b
|
UTSW |
11 |
83,308,665 (GRCm39) |
splice site |
probably null |
|
|
R1365:Rasl10b
|
UTSW |
11 |
83,308,665 (GRCm39) |
splice site |
probably null |
|
|
R1366:Rasl10b
|
UTSW |
11 |
83,308,665 (GRCm39) |
splice site |
probably null |
|
|
R1367:Rasl10b
|
UTSW |
11 |
83,308,665 (GRCm39) |
splice site |
probably null |
|
|
R1368:Rasl10b
|
UTSW |
11 |
83,308,665 (GRCm39) |
splice site |
probably null |
|
|
R1389:Rasl10b
|
UTSW |
11 |
83,308,665 (GRCm39) |
splice site |
probably null |
|
|
R3771:Rasl10b
|
UTSW |
11 |
83,309,349 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4925:Rasl10b
|
UTSW |
11 |
83,303,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5625:Rasl10b
|
UTSW |
11 |
83,309,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8830:Rasl10b
|
UTSW |
11 |
83,303,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Rasl10b
|
UTSW |
11 |
83,303,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCACAAAATAGTGTGGTGGGC -3'
(R):5'- TGTACCCCTCTTTTGGAGACAGGC -3'
Sequencing Primer
(F):5'- CCAGGAAGTAACCAGCTTGTG -3'
(R):5'- TTTTGGAGACAGGCCAGCATC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation