Incidental Mutation 'IGL02438:Muc13'
| ID |
293360 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Muc13
|
| Ensembl Gene |
ENSMUSG00000022824 |
| Gene Name |
mucin 13, epithelial transmembrane |
| Synonyms |
Ly64, 114/A10 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL02438
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
33614407-33640299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33628350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 367
(S367T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023520]
[ENSMUST00000115044]
|
| AlphaFold |
P19467 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023520
AA Change: S367T
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000023520
Gene: ENSMUSG00000022824
AA Change: S367T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
EGF
|
236 |
273 |
4.63e-1 |
SMART |
|
SEA
|
274 |
391 |
7.7e-29 |
SMART |
|
internal_repeat_1
|
394 |
418 |
9.92e-6 |
PROSPERO |
|
EGF_like
|
428 |
467 |
3.79e1 |
SMART |
|
transmembrane domain
|
484 |
506 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115044
AA Change: S367T
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110696
Gene: ENSMUSG00000022824
AA Change: S367T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
EGF
|
236 |
273 |
4.63e-1 |
SMART |
|
SEA
|
274 |
391 |
7.7e-29 |
SMART |
|
internal_repeat_1
|
394 |
418 |
9.92e-6 |
PROSPERO |
|
EGF_like
|
428 |
467 |
3.79e1 |
SMART |
|
transmembrane domain
|
484 |
506 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
T |
C |
5: 121,639,101 (GRCm39) |
N648S |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dna2 |
A |
G |
10: 62,792,841 (GRCm39) |
I285M |
possibly damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,233,758 (GRCm39) |
F291S |
probably benign |
Het |
| Gm6619 |
T |
C |
6: 131,467,398 (GRCm39) |
S88P |
possibly damaging |
Het |
| Ist1 |
A |
G |
8: 110,402,002 (GRCm39) |
|
probably benign |
Het |
| Necab3 |
T |
A |
2: 154,387,964 (GRCm39) |
D284V |
probably damaging |
Het |
| Nit2 |
G |
A |
16: 56,981,511 (GRCm39) |
Q83* |
probably null |
Het |
| Ppcs |
A |
G |
4: 119,278,889 (GRCm39) |
|
probably benign |
Het |
| Slc26a2 |
G |
T |
18: 61,335,289 (GRCm39) |
H55N |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Trmt2b |
C |
A |
X: 133,143,832 (GRCm39) |
V219L |
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,292,062 (GRCm39) |
D27G |
possibly damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,601,824 (GRCm39) |
F605L |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,651,744 (GRCm39) |
L381P |
probably damaging |
Het |
|
| Other mutations in Muc13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00837:Muc13
|
APN |
16 |
33,628,329 (GRCm39) |
nonsense |
probably null |
|
|
IGL01561:Muc13
|
APN |
16 |
33,626,411 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02159:Muc13
|
APN |
16 |
33,619,849 (GRCm39) |
missense |
unknown |
|
|
IGL02549:Muc13
|
APN |
16 |
33,628,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03222:Muc13
|
APN |
16 |
33,619,335 (GRCm39) |
missense |
unknown |
|
|
R0006:Muc13
|
UTSW |
16 |
33,623,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0734:Muc13
|
UTSW |
16 |
33,623,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1869:Muc13
|
UTSW |
16 |
33,624,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Muc13
|
UTSW |
16 |
33,628,281 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1966:Muc13
|
UTSW |
16 |
33,634,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2264:Muc13
|
UTSW |
16 |
33,628,409 (GRCm39) |
splice site |
probably null |
|
|
R4254:Muc13
|
UTSW |
16 |
33,636,221 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5843:Muc13
|
UTSW |
16 |
33,626,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6127:Muc13
|
UTSW |
16 |
33,619,317 (GRCm39) |
missense |
unknown |
|
|
R7448:Muc13
|
UTSW |
16 |
33,634,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Muc13
|
UTSW |
16 |
33,619,806 (GRCm39) |
missense |
unknown |
|
|
R7816:Muc13
|
UTSW |
16 |
33,619,386 (GRCm39) |
missense |
unknown |
|
|
R7901:Muc13
|
UTSW |
16 |
33,636,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8087:Muc13
|
UTSW |
16 |
33,619,397 (GRCm39) |
missense |
unknown |
|
|
R8392:Muc13
|
UTSW |
16 |
33,619,789 (GRCm39) |
missense |
unknown |
|
|
R8803:Muc13
|
UTSW |
16 |
33,633,287 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8851:Muc13
|
UTSW |
16 |
33,631,273 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1176:Muc13
|
UTSW |
16 |
33,636,220 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1176:Muc13
|
UTSW |
16 |
33,619,457 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation