Incidental Mutation 'R4659:Mcoln1'
| ID |
352678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcoln1
|
| Ensembl Gene |
ENSMUSG00000004567 |
| Gene Name |
mucolipin 1 |
| Synonyms |
TRPML1, mucolipidin, 2210015I05Rik |
| MMRRC Submission |
041919-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.199)
|
| Stock # |
R4659 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
3500457-3515232 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3510840 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 387
(S387R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004683
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004681]
[ENSMUST00000004683]
[ENSMUST00000111070]
[ENSMUST00000160338]
[ENSMUST00000207146]
[ENSMUST00000208002]
[ENSMUST00000208359]
[ENSMUST00000208310]
[ENSMUST00000208762]
[ENSMUST00000208306]
|
| AlphaFold |
Q99J21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004681
|
| SMART Domains |
Protein: ENSMUSP00000004681
Gene: ENSMUSG00000004565
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
101 |
N/A |
INTRINSIC |
|
cNMP
|
147 |
272 |
3.17e-13 |
SMART |
|
cNMP
|
465 |
584 |
3.17e-4 |
SMART |
|
cNMP
|
587 |
703 |
3.45e-5 |
SMART |
|
Blast:cNMP
|
742 |
777 |
7e-11 |
BLAST |
|
Pfam:Patatin
|
933 |
1099 |
5e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004683
AA Change: S387R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000004683
Gene: ENSMUSG00000004567
AA Change: S387R
| 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: ENSMUST00000111070
|
| SMART Domains |
Protein: ENSMUSP00000106699
Gene: ENSMUSG00000004565
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
101 |
N/A |
INTRINSIC |
|
cNMP
|
147 |
272 |
3.17e-13 |
SMART |
|
cNMP
|
465 |
584 |
3.17e-4 |
SMART |
|
cNMP
|
587 |
703 |
3.45e-5 |
SMART |
|
Blast:cNMP
|
742 |
777 |
7e-11 |
BLAST |
|
Pfam:Patatin
|
933 |
1099 |
1.4e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159808
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160338
|
| SMART Domains |
Protein: ENSMUSP00000123717
Gene: ENSMUSG00000004567
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161705
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161842
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162797
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207146
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208002
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208310
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208306
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208006
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
96% (74/77) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
G |
T |
15: 8,216,276 (GRCm38) |
|
probably benign |
Het |
| Abcc9 |
C |
A |
6: 142,672,595 (GRCm38) |
|
probably null |
Het |
| Ankrd22 |
C |
T |
19: 34,125,568 (GRCm38) |
V118I |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,906,076 (GRCm38) |
E295D |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,654,126 (GRCm38) |
N1114S |
possibly damaging |
Het |
| AU021092 |
C |
G |
16: 5,212,147 (GRCm38) |
A335P |
probably damaging |
Het |
| Carhsp1 |
T |
C |
16: 8,664,265 (GRCm38) |
T51A |
probably benign |
Het |
| Ccdc144b |
T |
C |
3: 36,025,954 (GRCm38) |
D218G |
possibly damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,339,891 (GRCm38) |
D152G |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,296,341 (GRCm38) |
D497E |
possibly damaging |
Het |
| Chrm5 |
T |
C |
2: 112,479,757 (GRCm38) |
N338S |
probably benign |
Het |
| Cldn8 |
G |
A |
16: 88,562,408 (GRCm38) |
H210Y |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,578,229 (GRCm38) |
*586K |
probably null |
Het |
| Dopey1 |
T |
A |
9: 86,502,032 (GRCm38) |
|
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,628,767 (GRCm38) |
F1371S |
possibly damaging |
Het |
| Eif6 |
A |
G |
2: 155,826,181 (GRCm38) |
I46T |
probably damaging |
Het |
| Esco2 |
G |
A |
14: 65,826,586 (GRCm38) |
T383M |
possibly damaging |
Het |
| Exoc8 |
T |
C |
8: 124,897,532 (GRCm38) |
D32G |
probably damaging |
Het |
| Fam149b |
G |
T |
14: 20,367,873 (GRCm38) |
S216I |
probably benign |
Het |
| Fam219a |
T |
C |
4: 41,521,645 (GRCm38) |
D87G |
probably null |
Het |
| Fbxw26 |
A |
T |
9: 109,744,871 (GRCm38) |
V71D |
probably damaging |
Het |
| Gabra4 |
T |
A |
5: 71,641,144 (GRCm38) |
K164M |
probably damaging |
Het |
| Gm8603 |
G |
A |
17: 13,517,028 (GRCm38) |
|
noncoding transcript |
Het |
| Gnmt |
A |
G |
17: 46,725,966 (GRCm38) |
F239S |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,319,831 (GRCm38) |
|
probably benign |
Het |
| Jam2 |
G |
A |
16: 84,812,952 (GRCm38) |
V151M |
probably damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,394,148 (GRCm38) |
D2V |
probably benign |
Het |
| Limch1 |
C |
T |
5: 67,027,557 (GRCm38) |
R797C |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,470,264 (GRCm38) |
F597I |
probably damaging |
Het |
| Lrriq3 |
T |
A |
3: 155,129,453 (GRCm38) |
I275N |
possibly damaging |
Het |
| Mgst3 |
T |
A |
1: 167,377,279 (GRCm38) |
Q58L |
probably damaging |
Het |
| Mical1 |
G |
A |
10: 41,486,936 (GRCm38) |
|
probably benign |
Het |
| Mmp3 |
C |
A |
9: 7,453,673 (GRCm38) |
D431E |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,455,239 (GRCm38) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 98,085,466 (GRCm38) |
L607P |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,849,457 (GRCm38) |
N153D |
probably damaging |
Het |
| Nfu1 |
A |
T |
6: 87,019,426 (GRCm38) |
T120S |
probably damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,576,267 (GRCm38) |
V341A |
possibly damaging |
Het |
| Notch1 |
T |
C |
2: 26,470,889 (GRCm38) |
E1148G |
probably damaging |
Het |
| Nqo1 |
C |
T |
8: 107,391,044 (GRCm38) |
|
probably null |
Het |
| Nwd1 |
T |
A |
8: 72,695,321 (GRCm38) |
D998E |
probably benign |
Het |
| Olfr1049 |
G |
A |
2: 86,255,013 (GRCm38) |
Q227* |
probably null |
Het |
| Oxct2a |
T |
C |
4: 123,322,680 (GRCm38) |
I303V |
probably benign |
Het |
| Parp10 |
A |
T |
15: 76,242,985 (GRCm38) |
D58E |
probably damaging |
Het |
| Pcdha6 |
T |
A |
18: 36,969,239 (GRCm38) |
V495E |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,553,182 (GRCm38) |
S88R |
probably benign |
Het |
| Pxdn |
T |
C |
12: 29,994,553 (GRCm38) |
V510A |
probably benign |
Het |
| Ranbp17 |
T |
A |
11: 33,266,288 (GRCm38) |
D820V |
probably damaging |
Het |
| Sec24c |
G |
T |
14: 20,683,144 (GRCm38) |
G180C |
probably damaging |
Het |
| Serpina3n |
T |
C |
12: 104,413,493 (GRCm38) |
S382P |
probably benign |
Het |
| Sestd1 |
A |
T |
2: 77,212,499 (GRCm38) |
M237K |
probably null |
Het |
| Sf3a2 |
T |
C |
10: 80,803,584 (GRCm38) |
I136T |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 61,974,509 (GRCm38) |
Y197C |
probably benign |
Het |
| Speer4b |
T |
C |
5: 27,497,895 (GRCm38) |
K204E |
probably benign |
Het |
| Speer4f1 |
A |
C |
5: 17,476,223 (GRCm38) |
E33A |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,484,213 (GRCm38) |
D3529E |
probably damaging |
Het |
| Stard13 |
T |
C |
5: 151,062,788 (GRCm38) |
D419G |
probably benign |
Het |
| Tg |
A |
G |
15: 66,673,920 (GRCm38) |
S164G |
possibly damaging |
Het |
| Thap12 |
A |
G |
7: 98,710,091 (GRCm38) |
|
probably benign |
Het |
| Thsd1 |
C |
A |
8: 22,259,298 (GRCm38) |
Y667* |
probably null |
Het |
| Tnks |
A |
C |
8: 34,849,311 (GRCm38) |
Y885D |
possibly damaging |
Het |
| Ttll3 |
A |
G |
6: 113,414,141 (GRCm38) |
I896V |
probably benign |
Het |
| Txnip |
T |
G |
3: 96,559,427 (GRCm38) |
F190C |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,776,129 (GRCm38) |
D1005G |
probably damaging |
Het |
| Usp3 |
T |
C |
9: 66,527,070 (GRCm38) |
|
probably null |
Het |
| Usp54 |
G |
T |
14: 20,564,992 (GRCm38) |
Q794K |
probably damaging |
Het |
| Xrn2 |
A |
G |
2: 147,061,474 (GRCm38) |
Q798R |
probably benign |
Het |
| Zfp189 |
A |
G |
4: 49,530,342 (GRCm38) |
I482V |
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,393,507 (GRCm38) |
N314D |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,948,428 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Mcoln1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Mcoln1
|
APN |
8 |
3,507,558 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL01621:Mcoln1
|
APN |
8 |
3,510,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02147:Mcoln1
|
APN |
8 |
3,508,379 (GRCm38) |
missense |
probably benign |
|
|
IGL02156:Mcoln1
|
APN |
8 |
3,512,657 (GRCm38) |
nonsense |
probably null |
|
|
R0616:Mcoln1
|
UTSW |
8 |
3,515,025 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1498:Mcoln1
|
UTSW |
8 |
3,512,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2102:Mcoln1
|
UTSW |
8 |
3,511,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2155:Mcoln1
|
UTSW |
8 |
3,511,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2178:Mcoln1
|
UTSW |
8 |
3,508,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2218:Mcoln1
|
UTSW |
8 |
3,505,813 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R3828:Mcoln1
|
UTSW |
8 |
3,500,601 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3875:Mcoln1
|
UTSW |
8 |
3,508,355 (GRCm38) |
missense |
probably benign |
|
|
R3971:Mcoln1
|
UTSW |
8 |
3,507,408 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4621:Mcoln1
|
UTSW |
8 |
3,505,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4622:Mcoln1
|
UTSW |
8 |
3,505,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4873:Mcoln1
|
UTSW |
8 |
3,507,422 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4875:Mcoln1
|
UTSW |
8 |
3,507,422 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4914:Mcoln1
|
UTSW |
8 |
3,507,483 (GRCm38) |
nonsense |
probably null |
|
|
R5114:Mcoln1
|
UTSW |
8 |
3,510,697 (GRCm38) |
unclassified |
probably benign |
|
|
R5586:Mcoln1
|
UTSW |
8 |
3,510,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5876:Mcoln1
|
UTSW |
8 |
3,510,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5946:Mcoln1
|
UTSW |
8 |
3,508,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6520:Mcoln1
|
UTSW |
8 |
3,505,855 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7449:Mcoln1
|
UTSW |
8 |
3,507,285 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7712:Mcoln1
|
UTSW |
8 |
3,505,873 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7904:Mcoln1
|
UTSW |
8 |
3,508,356 (GRCm38) |
missense |
probably benign |
|
|
R7936:Mcoln1
|
UTSW |
8 |
3,505,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8058:Mcoln1
|
UTSW |
8 |
3,508,378 (GRCm38) |
missense |
probably benign |
|
|
R8082:Mcoln1
|
UTSW |
8 |
3,507,420 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8093:Mcoln1
|
UTSW |
8 |
3,508,740 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9090:Mcoln1
|
UTSW |
8 |
3,505,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9271:Mcoln1
|
UTSW |
8 |
3,505,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9689:Mcoln1
|
UTSW |
8 |
3,507,436 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAATGGCTGGTACATCCTG -3'
(R):5'- TGGCAGGAACTAGTGACTGC -3'
Sequencing Primer
(F):5'- CATCTCGGGGACTGTCATGAAG -3'
(R):5'- CAGGAACTAGTGACTGCTTTGTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation