Incidental Mutation 'R5843:Muc13'
| ID |
450563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Muc13
|
| Ensembl Gene |
ENSMUSG00000022824 |
| Gene Name |
mucin 13, epithelial transmembrane |
| Synonyms |
Ly64, 114/A10 |
| MMRRC Submission |
043224-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5843 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
33614407-33640299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33626421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 320
(Y320C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023520]
[ENSMUST00000115044]
|
| AlphaFold |
P19467 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023520
AA Change: Y320C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023520
Gene: ENSMUSG00000022824
AA Change: Y320C
| 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 damaging
Transcript: ENSMUST00000115044
AA Change: Y320C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110696
Gene: ENSMUSG00000022824
AA Change: Y320C
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
G |
1: 89,537,272 (GRCm39) |
T93A |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,232,312 (GRCm39) |
|
probably null |
Het |
| Ccnk |
T |
C |
12: 108,159,989 (GRCm39) |
V157A |
probably damaging |
Het |
| Cdh10 |
T |
C |
15: 18,985,286 (GRCm39) |
F317L |
possibly damaging |
Het |
| Chn1 |
A |
G |
2: 73,510,092 (GRCm39) |
I139T |
probably benign |
Het |
| Creld2 |
A |
T |
15: 88,710,632 (GRCm39) |
D349V |
probably damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,854,289 (GRCm39) |
D1660G |
probably damaging |
Het |
| Hipk3 |
A |
C |
2: 104,270,569 (GRCm39) |
S470R |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,912 (GRCm39) |
I37K |
probably damaging |
Het |
| Hpcal1 |
T |
C |
12: 17,841,200 (GRCm39) |
F193L |
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,497,296 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
T |
C |
7: 80,375,828 (GRCm39) |
N1349S |
probably benign |
Het |
| Khk |
A |
G |
5: 31,079,275 (GRCm39) |
I6V |
possibly damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lrch3 |
T |
C |
16: 32,818,896 (GRCm39) |
V629A |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Or2aj4 |
T |
A |
16: 19,385,333 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,209,076 (GRCm39) |
R234S |
probably benign |
Het |
| Or5ac21 |
T |
A |
16: 59,123,724 (GRCm39) |
D69E |
probably damaging |
Het |
| Parpbp |
A |
G |
10: 87,969,053 (GRCm39) |
L131P |
probably damaging |
Het |
| Prl3a1 |
T |
C |
13: 27,454,093 (GRCm39) |
W24R |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,369,060 (GRCm39) |
N677K |
probably damaging |
Het |
| Rbm39 |
A |
T |
2: 156,004,793 (GRCm39) |
D181E |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 52,042,293 (GRCm39) |
T220A |
possibly damaging |
Het |
| Slc46a3 |
T |
C |
5: 147,823,021 (GRCm39) |
I274V |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,661,938 (GRCm39) |
N257I |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,080,113 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
T |
C |
1: 180,800,398 (GRCm39) |
|
probably null |
Het |
| Traf5 |
T |
C |
1: 191,729,446 (GRCm39) |
D535G |
possibly damaging |
Het |
| Trank1 |
C |
T |
9: 111,194,928 (GRCm39) |
S984L |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,833,539 (GRCm39) |
T1573A |
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,550,360 (GRCm39) |
I835N |
probably damaging |
Het |
| Wnt16 |
T |
A |
6: 22,290,947 (GRCm39) |
I125N |
probably damaging |
Het |
| Xirp2 |
G |
T |
2: 67,307,129 (GRCm39) |
|
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,596,405 (GRCm39) |
F624S |
possibly damaging |
Het |
| Zc3h12c |
G |
T |
9: 52,027,982 (GRCm39) |
T460K |
probably benign |
Het |
| Zfp865 |
C |
A |
7: 5,033,416 (GRCm39) |
T467K |
probably benign |
Het |
| Zim1 |
A |
G |
7: 6,680,697 (GRCm39) |
V322A |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCAAGCAAGCTGGCCTTC -3'
(R):5'- GTAGGGACAGTCTACCTTAGGAG -3'
Sequencing Primer
(F):5'- GCCTTTCATCTTGACATAAAAAGGG -3'
(R):5'- AGTCTACCTTAGGAGACTGAGCCTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation