Incidental Mutation 'IGL00837:Muc13'
| ID |
12134 |
| 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 # |
IGL00837
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
33614407-33640299 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 33628329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 360
(K360*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023520]
[ENSMUST00000115044]
|
| AlphaFold |
P19467 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023520
AA Change: K360*
|
| SMART Domains |
Protein: ENSMUSP00000023520
Gene: ENSMUSG00000022824
AA Change: K360*
| 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 |
probably null
Transcript: ENSMUST00000115044
AA Change: K360*
|
| SMART Domains |
Protein: ENSMUSP00000110696
Gene: ENSMUSG00000022824
AA Change: K360*
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1r1 |
T |
C |
6: 55,438,605 (GRCm39) |
|
probably benign |
Het |
| Adig |
T |
A |
2: 158,344,709 (GRCm39) |
F16Y |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,211,880 (GRCm39) |
T210A |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,646,724 (GRCm39) |
|
probably benign |
Het |
| Aoc1 |
T |
A |
6: 48,885,598 (GRCm39) |
I701N |
possibly damaging |
Het |
| Armc1 |
A |
C |
3: 19,198,584 (GRCm39) |
N125K |
probably benign |
Het |
| Bcl2a1c |
A |
T |
9: 114,159,560 (GRCm39) |
T113S |
probably benign |
Het |
| Cdh10 |
A |
T |
15: 19,013,490 (GRCm39) |
I697L |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,829,137 (GRCm39) |
S256T |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,883,999 (GRCm39) |
N82S |
probably benign |
Het |
| Gart |
T |
C |
16: 91,435,608 (GRCm39) |
|
probably benign |
Het |
| Gtf3c6 |
A |
G |
10: 40,130,470 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,851,100 (GRCm39) |
|
probably benign |
Het |
| Mtmr6 |
T |
A |
14: 60,517,666 (GRCm39) |
Y92* |
probably null |
Het |
| Nfyc |
A |
G |
4: 120,638,744 (GRCm39) |
|
probably benign |
Het |
| Pole |
T |
A |
5: 110,449,875 (GRCm39) |
V774E |
possibly damaging |
Het |
| Rnf217 |
A |
G |
10: 31,379,770 (GRCm39) |
L484P |
probably damaging |
Het |
| Slc18a2 |
A |
T |
19: 59,272,816 (GRCm39) |
I373F |
probably benign |
Het |
| Slc5a9 |
A |
G |
4: 111,750,887 (GRCm39) |
|
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,132,750 (GRCm39) |
I205V |
probably damaging |
Het |
| Tfap2d |
A |
T |
1: 19,189,430 (GRCm39) |
D270V |
probably damaging |
Het |
| Tmem63c |
G |
A |
12: 87,123,971 (GRCm39) |
S483N |
probably benign |
Het |
| Tor1aip1 |
T |
A |
1: 155,882,662 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
A |
C |
1: 37,840,992 (GRCm39) |
|
probably benign |
Het |
| Ttc21b |
A |
T |
2: 66,065,915 (GRCm39) |
|
probably null |
Het |
| Wdr89 |
A |
T |
12: 75,679,825 (GRCm39) |
L143* |
probably null |
Het |
|
| Other mutations in Muc13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation