Incidental Mutation 'IGL03188:Muc15'
| ID |
412511 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Muc15
|
| Ensembl Gene |
ENSMUSG00000050808 |
| Gene Name |
mucin 15 |
| Synonyms |
D730046L02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL03188
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
110551839-110569882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110562044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 160
(D160G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090332]
[ENSMUST00000099623]
[ENSMUST00000111016]
[ENSMUST00000111017]
[ENSMUST00000140777]
|
| AlphaFold |
Q8C6Z1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090332
AA Change: D160G
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000087805
Gene: ENSMUSG00000050808
AA Change: D160G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Mucin15
|
21 |
331 |
2.3e-155 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099623
|
| SMART Domains |
Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoct_dimer
|
156 |
381 |
2.9e-70 |
PFAM |
|
Pfam:Anoctamin
|
384 |
950 |
4.4e-138 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111016
AA Change: D160G
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000106645
Gene: ENSMUSG00000050808
AA Change: D160G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
181 |
N/A |
INTRINSIC |
|
transmembrane domain
|
235 |
257 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111017
AA Change: D160G
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000106646
Gene: ENSMUSG00000050808
AA Change: D160G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
181 |
N/A |
INTRINSIC |
|
transmembrane domain
|
235 |
257 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111019
|
| SMART Domains |
Protein: ENSMUSP00000106648
Gene: ENSMUSG00000074968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
384 |
627 |
6.3e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140777
|
| SMART Domains |
Protein: ENSMUSP00000122387
Gene: ENSMUSG00000074968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
40 |
141 |
5.7e-24 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
C |
A |
8: 114,425,656 (GRCm39) |
C1202F |
probably damaging |
Het |
| Ago2 |
C |
T |
15: 72,995,182 (GRCm39) |
V466I |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aptx |
A |
T |
4: 40,695,143 (GRCm39) |
|
probably null |
Het |
| Aurka |
A |
T |
2: 172,205,688 (GRCm39) |
D123E |
possibly damaging |
Het |
| Btaf1 |
T |
C |
19: 36,926,508 (GRCm39) |
I60T |
possibly damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,383,067 (GRCm39) |
|
probably null |
Het |
| Cct5 |
T |
C |
15: 31,598,148 (GRCm39) |
N55S |
probably benign |
Het |
| Cntnap3 |
A |
G |
13: 64,929,559 (GRCm39) |
S547P |
probably damaging |
Het |
| Efl1 |
T |
A |
7: 82,320,909 (GRCm39) |
I114N |
probably damaging |
Het |
| Gprin1 |
T |
C |
13: 54,886,465 (GRCm39) |
D603G |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,337,371 (GRCm39) |
S115P |
probably benign |
Het |
| Kalrn |
C |
A |
16: 34,134,562 (GRCm39) |
V401L |
probably benign |
Het |
| Kcnq4 |
T |
A |
4: 120,561,623 (GRCm39) |
K482I |
possibly damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,218,515 (GRCm39) |
A114T |
unknown |
Het |
| Lig1 |
G |
A |
7: 13,045,032 (GRCm39) |
|
probably benign |
Het |
| Lnx1 |
G |
A |
5: 74,780,924 (GRCm39) |
T199M |
probably damaging |
Het |
| Mapk13 |
A |
G |
17: 28,995,557 (GRCm39) |
|
probably benign |
Het |
| Mfsd2b |
A |
T |
12: 4,916,538 (GRCm39) |
|
probably null |
Het |
| Mrpl3 |
A |
G |
9: 104,934,264 (GRCm39) |
D137G |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,369 (GRCm39) |
|
probably null |
Het |
| Nipa2 |
T |
G |
7: 55,582,680 (GRCm39) |
N355T |
probably benign |
Het |
| Or11h4 |
A |
T |
14: 50,974,315 (GRCm39) |
Y101* |
probably null |
Het |
| Or2v2 |
T |
C |
11: 49,004,536 (GRCm39) |
N6D |
probably damaging |
Het |
| Or51a43 |
A |
G |
7: 103,717,945 (GRCm39) |
S98P |
possibly damaging |
Het |
| Or5p60 |
T |
C |
7: 107,723,841 (GRCm39) |
T210A |
probably benign |
Het |
| Pfkm |
G |
T |
15: 98,021,124 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
A |
G |
2: 121,157,327 (GRCm39) |
|
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,857 (GRCm39) |
D244G |
possibly damaging |
Het |
| Rimoc1 |
A |
G |
15: 4,018,187 (GRCm39) |
Y163H |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,501,997 (GRCm39) |
S107P |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,351,632 (GRCm39) |
I783N |
probably damaging |
Het |
| Snx1 |
A |
G |
9: 66,001,734 (GRCm39) |
W307R |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,225 (GRCm39) |
Y186C |
possibly damaging |
Het |
| Stk11ip |
G |
A |
1: 75,511,079 (GRCm39) |
V928M |
probably benign |
Het |
| Tgm4 |
A |
G |
9: 122,874,101 (GRCm39) |
M114V |
probably null |
Het |
| Trpm2 |
G |
A |
10: 77,754,743 (GRCm39) |
R1248C |
probably benign |
Het |
| Txnrd1 |
T |
C |
10: 82,720,880 (GRCm39) |
I347T |
possibly damaging |
Het |
| Unc5a |
A |
G |
13: 55,147,316 (GRCm39) |
S106G |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,612 (GRCm39) |
M691V |
probably benign |
Het |
| Zfp58 |
T |
A |
13: 67,639,528 (GRCm39) |
Q321L |
probably benign |
Het |
|
| Other mutations in Muc15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01978:Muc15
|
APN |
2 |
110,561,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02547:Muc15
|
APN |
2 |
110,561,650 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02751:Muc15
|
APN |
2 |
110,562,118 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03100:Muc15
|
APN |
2 |
110,561,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0684:Muc15
|
UTSW |
2 |
110,564,160 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1472:Muc15
|
UTSW |
2 |
110,561,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1582:Muc15
|
UTSW |
2 |
110,567,817 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1661:Muc15
|
UTSW |
2 |
110,564,243 (GRCm39) |
nonsense |
probably null |
|
|
R1665:Muc15
|
UTSW |
2 |
110,564,243 (GRCm39) |
nonsense |
probably null |
|
|
R1725:Muc15
|
UTSW |
2 |
110,561,591 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1815:Muc15
|
UTSW |
2 |
110,561,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Muc15
|
UTSW |
2 |
110,567,697 (GRCm39) |
nonsense |
probably null |
|
|
R2022:Muc15
|
UTSW |
2 |
110,561,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4546:Muc15
|
UTSW |
2 |
110,567,844 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4953:Muc15
|
UTSW |
2 |
110,561,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4984:Muc15
|
UTSW |
2 |
110,561,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5858:Muc15
|
UTSW |
2 |
110,562,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6046:Muc15
|
UTSW |
2 |
110,561,786 (GRCm39) |
nonsense |
probably null |
|
|
R6695:Muc15
|
UTSW |
2 |
110,561,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7468:Muc15
|
UTSW |
2 |
110,561,862 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7725:Muc15
|
UTSW |
2 |
110,562,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8279:Muc15
|
UTSW |
2 |
110,562,052 (GRCm39) |
missense |
probably benign |
|
|
R8545:Muc15
|
UTSW |
2 |
110,561,581 (GRCm39) |
nonsense |
probably null |
|
|
R8752:Muc15
|
UTSW |
2 |
110,561,758 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8923:Muc15
|
UTSW |
2 |
110,562,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8937:Muc15
|
UTSW |
2 |
110,562,252 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9115:Muc15
|
UTSW |
2 |
110,562,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9535:Muc15
|
UTSW |
2 |
110,562,007 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation