Incidental Mutation 'R3828:Mcoln1'
| ID |
273846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcoln1
|
| Ensembl Gene |
ENSMUSG00000004567 |
| Gene Name |
mucolipin 1 |
| Synonyms |
2210015I05Rik, mucolipidin, TRPML1 |
| MMRRC Submission |
040886-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R3828 (G1)
|
| Quality Score |
98.6 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
3550458-3565232 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3550601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 2
(A2V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004683]
[ENSMUST00000061508]
[ENSMUST00000160338]
[ENSMUST00000207318]
[ENSMUST00000208306]
[ENSMUST00000208423]
|
| AlphaFold |
Q99J21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004683
AA Change: A2V
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
AA Change: A2V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
299 |
321 |
N/A |
INTRINSIC |
|
transmembrane domain
|
348 |
370 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
378 |
524 |
2.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061508
|
| SMART Domains |
Protein: ENSMUSP00000060344
Gene: ENSMUSG00000047264
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
49 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
154 |
176 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
182 |
204 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
210 |
232 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
238 |
260 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
266 |
288 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
294 |
316 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
322 |
344 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
350 |
372 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
1.84e-4 |
SMART |
|
low complexity region
|
422 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
473 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160338
AA Change: A2V
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123717
Gene: ENSMUSG00000004567
AA Change: A2V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207318
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208306
AA Change: A2V
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208739
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit premature death around 8 months of age preceeded by weight loss, weakness, lethargy, bladder and stomach distension, and retinal degradation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Camk2b |
A |
G |
11: 5,978,932 (GRCm39) |
V32A |
probably damaging |
Het |
| Cbr2 |
A |
T |
11: 120,621,278 (GRCm39) |
H140Q |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,351,609 (GRCm39) |
V258A |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Cxcr6 |
A |
T |
9: 123,639,934 (GRCm39) |
M319L |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,196,226 (GRCm39) |
K1308I |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
| Gm5862 |
T |
G |
5: 26,224,345 (GRCm39) |
H208P |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Ino80d |
A |
T |
1: 63,101,237 (GRCm39) |
M463K |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,256,356 (GRCm39) |
P4595S |
probably benign |
Het |
| Mark4 |
A |
G |
7: 19,177,112 (GRCm39) |
I239T |
possibly damaging |
Het |
| Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,817,839 (GRCm39) |
M299L |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
| Or56a3 |
A |
G |
7: 104,735,504 (GRCm39) |
N194D |
probably benign |
Het |
| Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,584,083 (GRCm39) |
N444S |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnks |
A |
G |
8: 35,340,332 (GRCm39) |
F429L |
probably damaging |
Het |
| Usp15 |
T |
A |
10: 123,032,775 (GRCm39) |
I16F |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,533,500 (GRCm39) |
I244T |
probably benign |
Het |
|
| Other mutations in Mcoln1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Mcoln1
|
APN |
8 |
3,557,558 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01621:Mcoln1
|
APN |
8 |
3,560,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02147:Mcoln1
|
APN |
8 |
3,558,379 (GRCm39) |
missense |
probably benign |
|
|
IGL02156:Mcoln1
|
APN |
8 |
3,562,657 (GRCm39) |
nonsense |
probably null |
|
|
R0616:Mcoln1
|
UTSW |
8 |
3,565,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1498:Mcoln1
|
UTSW |
8 |
3,562,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Mcoln1
|
UTSW |
8 |
3,561,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Mcoln1
|
UTSW |
8 |
3,561,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2178:Mcoln1
|
UTSW |
8 |
3,558,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2218:Mcoln1
|
UTSW |
8 |
3,555,813 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3875:Mcoln1
|
UTSW |
8 |
3,558,355 (GRCm39) |
missense |
probably benign |
|
|
R3971:Mcoln1
|
UTSW |
8 |
3,557,408 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4621:Mcoln1
|
UTSW |
8 |
3,555,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4622:Mcoln1
|
UTSW |
8 |
3,555,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4659:Mcoln1
|
UTSW |
8 |
3,560,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Mcoln1
|
UTSW |
8 |
3,557,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4875:Mcoln1
|
UTSW |
8 |
3,557,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4914:Mcoln1
|
UTSW |
8 |
3,557,483 (GRCm39) |
nonsense |
probably null |
|
|
R5114:Mcoln1
|
UTSW |
8 |
3,560,697 (GRCm39) |
unclassified |
probably benign |
|
|
R5586:Mcoln1
|
UTSW |
8 |
3,560,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5876:Mcoln1
|
UTSW |
8 |
3,560,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5946:Mcoln1
|
UTSW |
8 |
3,558,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Mcoln1
|
UTSW |
8 |
3,555,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7449:Mcoln1
|
UTSW |
8 |
3,557,285 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7712:Mcoln1
|
UTSW |
8 |
3,555,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7904:Mcoln1
|
UTSW |
8 |
3,558,356 (GRCm39) |
missense |
probably benign |
|
|
R7936:Mcoln1
|
UTSW |
8 |
3,555,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8058:Mcoln1
|
UTSW |
8 |
3,558,378 (GRCm39) |
missense |
probably benign |
|
|
R8082:Mcoln1
|
UTSW |
8 |
3,557,420 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8093:Mcoln1
|
UTSW |
8 |
3,558,740 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9090:Mcoln1
|
UTSW |
8 |
3,555,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Mcoln1
|
UTSW |
8 |
3,555,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9689:Mcoln1
|
UTSW |
8 |
3,557,436 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGAAAGGGTCGCGCTTGTC -3'
(R):5'- AGAACACTAAGCTGGACGC -3'
Sequencing Primer
(F):5'- CACGTGTTCAGTTCAGGCG -3'
(R):5'- ATTCTAGGATCGGTAGAAGCTCTCC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation