Incidental Mutation 'R1367:Rasl10b'
| ID |
156085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasl10b
|
| Ensembl Gene |
ENSMUSG00000020684 |
| Gene Name |
RAS-like, family 10, member B |
| Synonyms |
B230331P10Rik, VTS58635 |
| MMRRC Submission |
039432-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R1367 (G1)
|
| Quality Score |
225 |
|
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: 98.8%
- 3x: 97.6%
- 10x: 94.2%
- 20x: 86.6%
|
| Validation Efficiency |
98% (48/49) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
C |
16: 14,261,250 (GRCm39) |
V676A |
probably damaging |
Het |
| Acvr1b |
T |
C |
15: 101,091,819 (GRCm39) |
L33P |
possibly damaging |
Het |
| Adamts12 |
T |
G |
15: 11,256,980 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,601,819 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 14,990,225 (GRCm39) |
D233E |
probably damaging |
Het |
| Cd209e |
T |
C |
8: 3,899,084 (GRCm39) |
*209W |
probably null |
Het |
| Cebpz |
A |
G |
17: 79,230,742 (GRCm39) |
V825A |
probably benign |
Het |
| Cep170 |
A |
G |
1: 176,563,290 (GRCm39) |
F1575L |
probably damaging |
Het |
| Exoc2 |
A |
T |
13: 31,066,256 (GRCm39) |
Y473* |
probably null |
Het |
| F3 |
A |
G |
3: 121,523,023 (GRCm39) |
T78A |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Gga2 |
G |
A |
7: 121,598,138 (GRCm39) |
R319* |
probably null |
Het |
| Gid8 |
A |
G |
2: 180,355,025 (GRCm39) |
I10M |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,769,311 (GRCm39) |
W139R |
probably damaging |
Het |
| H2-M1 |
A |
G |
17: 36,982,059 (GRCm39) |
S181P |
probably benign |
Het |
| Hectd3 |
G |
T |
4: 116,854,367 (GRCm39) |
V310L |
probably null |
Het |
| Insyn1 |
G |
T |
9: 58,406,263 (GRCm39) |
D58Y |
probably damaging |
Het |
| Kif17 |
C |
A |
4: 138,005,305 (GRCm39) |
S290* |
probably null |
Het |
| Kif26b |
A |
G |
1: 178,744,028 (GRCm39) |
N1375D |
probably damaging |
Het |
| Lgr4 |
C |
G |
2: 109,821,480 (GRCm39) |
P121A |
probably damaging |
Het |
| Ly75 |
A |
G |
2: 60,124,102 (GRCm39) |
|
probably null |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Nek3 |
T |
C |
8: 22,650,377 (GRCm39) |
|
probably benign |
Het |
| Nin |
A |
T |
12: 70,090,703 (GRCm39) |
L904Q |
probably damaging |
Het |
| Nlrp14 |
A |
G |
7: 106,782,018 (GRCm39) |
D405G |
probably benign |
Het |
| Nuak1 |
C |
T |
10: 84,228,192 (GRCm39) |
|
probably benign |
Het |
| Or5h23 |
T |
A |
16: 58,906,706 (GRCm39) |
I47F |
probably benign |
Het |
| Plcg2 |
T |
A |
8: 118,341,977 (GRCm39) |
W1113R |
probably damaging |
Het |
| Pms2 |
G |
A |
5: 143,862,731 (GRCm39) |
V613M |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Pxk |
T |
G |
14: 8,150,915 (GRCm38) |
|
probably null |
Het |
| Rbm28 |
A |
T |
6: 29,137,639 (GRCm39) |
I438N |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,820,119 (GRCm39) |
|
probably benign |
Het |
| Slc41a1 |
A |
G |
1: 131,771,746 (GRCm39) |
T387A |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,254,322 (GRCm39) |
V228A |
probably benign |
Het |
| Slpi |
A |
G |
2: 164,196,787 (GRCm39) |
|
probably benign |
Het |
| Tkfc |
A |
G |
19: 10,570,838 (GRCm39) |
S481P |
probably benign |
Het |
| Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
| Tns3 |
T |
C |
11: 8,398,704 (GRCm39) |
H1216R |
probably benign |
Het |
| Ugt2b38 |
A |
T |
5: 87,571,973 (GRCm39) |
S20T |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,366,606 (GRCm39) |
D921E |
possibly damaging |
Het |
| Usp48 |
T |
A |
4: 137,371,774 (GRCm39) |
S967T |
probably damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Zdhhc23 |
A |
G |
16: 43,794,513 (GRCm39) |
S54P |
probably benign |
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 |
|
|
R0829: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 |
|
|
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 |
2014-02-11 |
Incidental Mutation