Incidental Mutation 'IGL02159:Muc13'
| ID |
282352 |
| 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 # |
IGL02159
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
33614407-33640299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 33619849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 199
(T199K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023520]
[ENSMUST00000115044]
|
| AlphaFold |
P19467 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000023520
AA Change: T199K
|
| SMART Domains |
Protein: ENSMUSP00000023520
Gene: ENSMUSG00000022824
AA Change: T199K
| 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: T199K
|
| SMART Domains |
Protein: ENSMUSP00000110696
Gene: ENSMUSG00000022824
AA Change: T199K
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
C |
10: 100,446,527 (GRCm39) |
L257S |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,264,545 (GRCm39) |
S2976G |
probably benign |
Het |
| Afmid |
T |
C |
11: 117,727,252 (GRCm39) |
W267R |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,934,076 (GRCm39) |
K969R |
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,571,638 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,644,722 (GRCm39) |
H62R |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,256,793 (GRCm39) |
|
probably benign |
Het |
| Caps2 |
G |
A |
10: 112,039,928 (GRCm39) |
V457M |
probably benign |
Het |
| Capza1 |
T |
C |
3: 104,771,687 (GRCm39) |
D3G |
possibly damaging |
Het |
| Cav1 |
T |
A |
6: 17,307,971 (GRCm39) |
V41E |
possibly damaging |
Het |
| Celf2 |
G |
T |
2: 6,608,988 (GRCm39) |
C264* |
probably null |
Het |
| Clec4a2 |
C |
T |
6: 123,116,285 (GRCm39) |
S150L |
probably benign |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,129 (GRCm39) |
D181E |
possibly damaging |
Het |
| Epyc |
A |
G |
10: 97,506,493 (GRCm39) |
E100G |
probably benign |
Het |
| Hdac11 |
A |
G |
6: 91,150,084 (GRCm39) |
I294M |
probably damaging |
Het |
| Hrob |
G |
A |
11: 102,150,991 (GRCm39) |
|
probably null |
Het |
| Hsdl1 |
A |
G |
8: 120,293,153 (GRCm39) |
V73A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,516,341 (GRCm39) |
S2501T |
probably benign |
Het |
| Lrrc41 |
T |
A |
4: 115,945,683 (GRCm39) |
F133I |
probably benign |
Het |
| Map3k19 |
C |
A |
1: 127,750,907 (GRCm39) |
G815C |
probably benign |
Het |
| Nif3l1 |
G |
T |
1: 58,487,105 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
A |
T |
7: 3,298,175 (GRCm39) |
|
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,166,113 (GRCm39) |
S244P |
probably damaging |
Het |
| Or7a37 |
A |
T |
10: 78,805,735 (GRCm39) |
N84I |
probably damaging |
Het |
| Parl |
G |
A |
16: 20,098,838 (GRCm39) |
|
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,330,800 (GRCm39) |
I211T |
possibly damaging |
Het |
| Pglyrp4 |
A |
G |
3: 90,638,160 (GRCm39) |
E158G |
possibly damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,271,057 (GRCm39) |
L478P |
probably benign |
Het |
| Prss3b |
T |
C |
6: 41,009,891 (GRCm39) |
T148A |
probably benign |
Het |
| Serpina1a |
C |
T |
12: 103,820,965 (GRCm39) |
G338R |
probably damaging |
Het |
| Serpina5 |
T |
C |
12: 104,071,557 (GRCm39) |
L388P |
possibly damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,316,040 (GRCm39) |
V367A |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,247,404 (GRCm39) |
|
probably benign |
Het |
| Surf1 |
A |
G |
2: 26,805,663 (GRCm39) |
L26P |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,580,263 (GRCm39) |
S486P |
probably benign |
Het |
| Tdrd6 |
A |
T |
17: 43,939,281 (GRCm39) |
V589E |
probably damaging |
Het |
| Tuba3b |
T |
G |
6: 145,565,392 (GRCm39) |
S287A |
probably benign |
Het |
| Txnrd3 |
G |
A |
6: 89,646,306 (GRCm39) |
R295H |
probably damaging |
Het |
| Ubr5 |
G |
T |
15: 37,991,623 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,896,628 (GRCm39) |
|
probably null |
Het |
| Utp23 |
G |
A |
15: 51,745,761 (GRCm39) |
R87K |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,285,234 (GRCm39) |
I405T |
possibly 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 |
|
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 |
2015-04-16 |
Incidental Mutation