Incidental Mutation 'R1364:Rasl10b'
| ID |
162860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasl10b
|
| Ensembl Gene |
ENSMUSG00000020684 |
| Gene Name |
RAS-like, family 10, member B |
| Synonyms |
B230331P10Rik, VTS58635 |
| MMRRC Submission |
039429-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R1364 (G1)
|
| Quality Score |
223 |
|
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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.8%
|
| Validation Efficiency |
100% (38/38) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
A |
10: 20,848,055 (GRCm39) |
L488I |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,041,179 (GRCm39) |
F2519S |
probably damaging |
Het |
| Cobll1 |
A |
G |
2: 64,956,654 (GRCm39) |
|
probably benign |
Het |
| Csn1s1 |
T |
C |
5: 87,825,443 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 103,985,363 (GRCm39) |
S1920T |
possibly damaging |
Het |
| Dnah17 |
T |
A |
11: 118,016,432 (GRCm39) |
|
probably benign |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Fnbp1 |
T |
C |
2: 30,949,043 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,307,375 (GRCm39) |
L1023Q |
probably damaging |
Het |
| Hjurp |
T |
TN |
1: 88,194,247 (GRCm39) |
|
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,170,351 (GRCm39) |
T333A |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,798,106 (GRCm39) |
M906V |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,858,672 (GRCm39) |
L1130Q |
probably damaging |
Het |
| Nebl |
A |
T |
2: 17,397,848 (GRCm39) |
|
probably benign |
Het |
| Or10q1b |
T |
C |
19: 13,682,809 (GRCm39) |
V206A |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,058,768 (GRCm39) |
D320G |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,225,310 (GRCm39) |
E563G |
possibly damaging |
Het |
| Prkd3 |
T |
C |
17: 79,264,687 (GRCm39) |
T643A |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Ripk3 |
A |
C |
14: 56,022,717 (GRCm39) |
|
probably null |
Het |
| Sgsm3 |
T |
C |
15: 80,892,143 (GRCm39) |
F237S |
probably damaging |
Het |
| Slit3 |
G |
A |
11: 35,560,934 (GRCm39) |
V960I |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,782,693 (GRCm39) |
L543P |
probably damaging |
Het |
| Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
| Unkl |
A |
G |
17: 25,408,597 (GRCm39) |
I54V |
probably benign |
Het |
| Wdr75 |
A |
G |
1: 45,838,222 (GRCm39) |
T44A |
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 |
|
|
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 |
2014-03-17 |
Incidental Mutation