Incidental Mutation 'P4717OSA:Mcoln3'
| ID |
43991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcoln3
|
| Ensembl Gene |
ENSMUSG00000036853 |
| Gene Name |
mucolipin 3 |
| Synonyms |
Va, varitint-waddler, TRPML3, 6720490O21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
P4717OSA (G1)
of strain
634
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
3 |
| Chromosomal Location |
145823205-145847561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 145830504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 78
(V78G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039450]
[ENSMUST00000140214]
|
| AlphaFold |
Q8R4F0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039450
AA Change: V78G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038801
Gene: ENSMUSG00000036853
AA Change: V78G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
286 |
308 |
N/A |
INTRINSIC |
|
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
360 |
508 |
3.5e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140214
AA Change: V78G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115655
Gene: ENSMUSG00000036853
AA Change: V78G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
82 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9380 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
100% (27/27) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Heterozygotes show normal/diluted/white hair patches, circling, hyperactivity, deafness, and reduced fertility. Homozygotes are white with small patches of color and show severe behavioral abnormalities, poor postnatal viability and are nearly infertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
A |
T |
11: 3,888,178 (GRCm39) |
|
probably null |
Het |
| Acsm5 |
A |
T |
7: 119,131,195 (GRCm39) |
E204D |
probably benign |
Het |
| Ahi1 |
G |
C |
10: 20,848,009 (GRCm39) |
R472S |
probably damaging |
Het |
| Bbof1 |
G |
A |
12: 84,473,734 (GRCm39) |
A355T |
probably damaging |
Het |
| Capn10 |
G |
T |
1: 92,867,116 (GRCm39) |
Q115H |
probably damaging |
Het |
| Clec4n |
A |
C |
6: 123,221,499 (GRCm39) |
Q114H |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Depdc1a |
T |
C |
3: 159,228,184 (GRCm39) |
V312A |
probably damaging |
Het |
| Gbp2 |
T |
C |
3: 142,336,357 (GRCm39) |
F236L |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,677,317 (GRCm39) |
I527T |
probably damaging |
Het |
| Hhla1 |
A |
G |
15: 65,795,850 (GRCm39) |
L452P |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,797,483 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
A |
9: 48,237,677 (GRCm39) |
M193L |
probably benign |
Het |
| Olig1 |
A |
T |
16: 91,066,877 (GRCm39) |
Y38F |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,386,895 (GRCm39) |
V1256A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,391,643 (GRCm39) |
I1570F |
probably damaging |
Het |
| Prss12 |
T |
C |
3: 123,241,267 (GRCm39) |
Y154H |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,456 (GRCm39) |
D468G |
probably damaging |
Het |
| Relt |
G |
A |
7: 100,496,788 (GRCm39) |
R360C |
probably damaging |
Het |
| Tmed4 |
T |
C |
11: 6,223,727 (GRCm39) |
|
probably benign |
Het |
| Trhr |
C |
A |
15: 44,060,831 (GRCm39) |
T117K |
probably damaging |
Het |
| Ube2e2 |
A |
G |
14: 18,630,297 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Mcoln3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00508:Mcoln3
|
APN |
3 |
145,839,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01106:Mcoln3
|
APN |
3 |
145,843,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01712:Mcoln3
|
APN |
3 |
145,834,019 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02115:Mcoln3
|
APN |
3 |
145,843,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02116:Mcoln3
|
APN |
3 |
145,839,664 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0463:Mcoln3
|
UTSW |
3 |
145,846,331 (GRCm39) |
nonsense |
probably null |
|
|
R1981:Mcoln3
|
UTSW |
3 |
145,846,345 (GRCm39) |
nonsense |
probably null |
|
|
R2056:Mcoln3
|
UTSW |
3 |
145,833,979 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3000:Mcoln3
|
UTSW |
3 |
145,839,662 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4366:Mcoln3
|
UTSW |
3 |
145,846,247 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4667:Mcoln3
|
UTSW |
3 |
145,836,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4950:Mcoln3
|
UTSW |
3 |
145,845,274 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5457:Mcoln3
|
UTSW |
3 |
145,833,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6302:Mcoln3
|
UTSW |
3 |
145,830,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6353:Mcoln3
|
UTSW |
3 |
145,836,909 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6632:Mcoln3
|
UTSW |
3 |
145,833,942 (GRCm39) |
missense |
probably benign |
|
|
R6915:Mcoln3
|
UTSW |
3 |
145,843,011 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7790:Mcoln3
|
UTSW |
3 |
145,845,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7838:Mcoln3
|
UTSW |
3 |
145,845,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Mcoln3
|
UTSW |
3 |
145,830,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8348:Mcoln3
|
UTSW |
3 |
145,836,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8509:Mcoln3
|
UTSW |
3 |
145,830,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8708:Mcoln3
|
UTSW |
3 |
145,846,276 (GRCm39) |
nonsense |
probably null |
|
|
R8838:Mcoln3
|
UTSW |
3 |
145,845,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8861:Mcoln3
|
UTSW |
3 |
145,845,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8981:Mcoln3
|
UTSW |
3 |
145,827,554 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Mcoln3
|
UTSW |
3 |
145,846,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGTGTCCCCATAGTCATACTGG -3'
(R):5'- AGCCTGTTCTTTCTCCCAAGAATGC -3'
Sequencing Primer
(F):5'- tgtctgtggttctagggatttg -3'
(R):5'- ccttgatacctaaaacagacagac -3'
|
| Posted On |
2013-05-31 |
Incidental Mutation