Incidental Mutation 'IGL03222:Muc13'
| ID |
413669 |
| 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 # |
IGL03222
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
33614407-33640299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33619335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 28
(S28P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023520]
[ENSMUST00000115044]
|
| AlphaFold |
P19467 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000023520
AA Change: S28P
|
| SMART Domains |
Protein: ENSMUSP00000023520
Gene: ENSMUSG00000022824
AA Change: S28P
| 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 |
unknown
Transcript: ENSMUST00000115044
AA Change: S28P
|
| SMART Domains |
Protein: ENSMUSP00000110696
Gene: ENSMUSG00000022824
AA Change: S28P
| 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 |
noncoding transcript
Transcript: ENSMUST00000159501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162677
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163077
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921511C20Rik |
A |
G |
X: 126,303,093 (GRCm39) |
D344G |
probably benign |
Het |
| Aqr |
A |
T |
2: 113,951,737 (GRCm39) |
L877Q |
probably damaging |
Het |
| Ctr9 |
T |
C |
7: 110,642,257 (GRCm39) |
Y328H |
probably benign |
Het |
| Ebf2 |
A |
G |
14: 67,649,441 (GRCm39) |
|
probably null |
Het |
| Ebpl |
A |
G |
14: 61,579,682 (GRCm39) |
|
probably benign |
Het |
| Efcab5 |
A |
T |
11: 77,028,193 (GRCm39) |
D515E |
probably benign |
Het |
| Gon4l |
A |
G |
3: 88,802,950 (GRCm39) |
N1187S |
possibly damaging |
Het |
| Hmces |
A |
G |
6: 87,902,674 (GRCm39) |
R172G |
probably damaging |
Het |
| Ighv14-2 |
T |
C |
12: 113,958,114 (GRCm39) |
D109G |
possibly damaging |
Het |
| Kcnn1 |
C |
T |
8: 71,300,843 (GRCm39) |
R423H |
probably damaging |
Het |
| Or5p70 |
A |
T |
7: 107,994,393 (GRCm39) |
D22V |
possibly damaging |
Het |
| Or7e170 |
G |
T |
9: 19,795,495 (GRCm39) |
Y35* |
probably null |
Het |
| Polg |
T |
C |
7: 79,104,404 (GRCm39) |
T824A |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,995,302 (GRCm39) |
V782D |
probably damaging |
Het |
| Rin2 |
T |
A |
2: 145,702,115 (GRCm39) |
C270* |
probably null |
Het |
| Sdk2 |
C |
A |
11: 113,729,257 (GRCm39) |
V1107L |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,628,304 (GRCm39) |
V539E |
probably benign |
Het |
| Tiam2 |
T |
C |
17: 3,488,983 (GRCm39) |
S764P |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,749,215 (GRCm39) |
Y211C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,586,083 (GRCm39) |
T21883A |
probably damaging |
Het |
| Xkr5 |
T |
C |
8: 18,987,315 (GRCm39) |
T117A |
probably damaging |
Het |
| Xkr9 |
T |
A |
1: 13,771,505 (GRCm39) |
Y340* |
probably null |
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 |
|
|
IGL02438:Muc13
|
APN |
16 |
33,628,350 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02549:Muc13
|
APN |
16 |
33,628,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation