Incidental Mutation 'IGL03100:Muc15'
| ID |
418677 |
| 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 # |
IGL03100
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
110551839-110569882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110561939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 125
(D125G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090332]
[ENSMUST00000099623]
[ENSMUST00000111016]
[ENSMUST00000111017]
[ENSMUST00000140777]
|
| AlphaFold |
Q8C6Z1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090332
AA Change: D125G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000087805
Gene: ENSMUSG00000050808
AA Change: D125G
| 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 damaging
Transcript: ENSMUST00000111016
AA Change: D125G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106645
Gene: ENSMUSG00000050808
AA Change: D125G
| 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 damaging
Transcript: ENSMUST00000111017
AA Change: D125G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106646
Gene: ENSMUSG00000050808
AA Change: D125G
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,208,527 (GRCm39) |
R233S |
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,640,270 (GRCm39) |
W73R |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,336,964 (GRCm39) |
V247A |
probably benign |
Het |
| Anpep |
T |
A |
7: 79,486,109 (GRCm39) |
T538S |
probably benign |
Het |
| Asb14 |
A |
G |
14: 26,625,329 (GRCm39) |
K228R |
probably benign |
Het |
| Atp6v0d2 |
C |
T |
4: 19,910,586 (GRCm39) |
|
probably null |
Het |
| B3gat2 |
A |
T |
1: 23,802,272 (GRCm39) |
D186V |
probably damaging |
Het |
| Bmpr1a |
A |
T |
14: 34,163,164 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,175 (GRCm39) |
D224G |
probably damaging |
Het |
| Cd6 |
T |
C |
19: 10,770,303 (GRCm39) |
M463V |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,395,626 (GRCm39) |
I188T |
possibly damaging |
Het |
| Cldn17 |
G |
T |
16: 88,303,489 (GRCm39) |
A80E |
probably damaging |
Het |
| Clptm1l |
A |
G |
13: 73,760,509 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,814,512 (GRCm39) |
V500E |
unknown |
Het |
| Ctdspl2 |
C |
T |
2: 121,809,394 (GRCm39) |
T115I |
probably benign |
Het |
| Dbh |
G |
T |
2: 27,055,534 (GRCm39) |
A3S |
probably benign |
Het |
| Fgd4 |
A |
G |
16: 16,295,383 (GRCm39) |
|
probably benign |
Het |
| Gm4952 |
T |
A |
19: 12,602,083 (GRCm39) |
|
probably null |
Het |
| Grik4 |
A |
G |
9: 42,461,751 (GRCm39) |
M551T |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,870,815 (GRCm39) |
I1389V |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,253,608 (GRCm39) |
T58A |
probably benign |
Het |
| Kcnh2 |
T |
C |
5: 24,527,682 (GRCm39) |
K890R |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,446 (GRCm39) |
H809R |
possibly damaging |
Het |
| Knl1 |
A |
G |
2: 118,931,251 (GRCm39) |
E1989G |
probably damaging |
Het |
| Ogdhl |
A |
T |
14: 32,064,029 (GRCm39) |
M632L |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,531,499 (GRCm39) |
I1374T |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,046,243 (GRCm39) |
N670K |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,804,018 (GRCm39) |
H590R |
probably damaging |
Het |
| Scara3 |
A |
C |
14: 66,168,722 (GRCm39) |
H298Q |
probably damaging |
Het |
| Sirt3 |
T |
C |
7: 140,445,030 (GRCm39) |
D256G |
probably damaging |
Het |
| Slc13a2 |
T |
C |
11: 78,295,299 (GRCm39) |
Q158R |
probably damaging |
Het |
| Slco5a1 |
T |
A |
1: 12,949,504 (GRCm39) |
T629S |
possibly damaging |
Het |
| Speer4f2 |
A |
G |
5: 17,581,528 (GRCm39) |
K157E |
probably damaging |
Het |
| Srsf1 |
T |
A |
11: 87,939,954 (GRCm39) |
D155E |
probably damaging |
Het |
| Tln2 |
C |
T |
9: 67,203,019 (GRCm39) |
R534H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,591,992 (GRCm39) |
|
probably benign |
Het |
| Ube2m |
A |
G |
7: 12,771,562 (GRCm39) |
L32P |
probably benign |
Het |
| Wdr24 |
T |
A |
17: 26,044,681 (GRCm39) |
F179I |
possibly damaging |
Het |
| Zfp961 |
T |
C |
8: 72,721,754 (GRCm39) |
*69Q |
probably null |
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 |
|
IGL03188:Muc15
|
APN |
2 |
110,562,044 (GRCm39) |
missense |
probably benign |
0.14 |
|
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