Incidental Mutation 'IGL02415:Muc20'
| ID |
292403 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Muc20
|
| Ensembl Gene |
ENSMUSG00000035638 |
| Gene Name |
mucin 20 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL02415
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32597793-32617805 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32615051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 109
(T109S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041123]
[ENSMUST00000115116]
|
| AlphaFold |
Q8BUE7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000041123
AA Change: T109S
|
| SMART Domains |
Protein: ENSMUSP00000041221
Gene: ENSMUSG00000035638
AA Change: T109S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
113 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
114 |
146 |
3.3e-8 |
PROSPERO |
|
internal_repeat_1
|
138 |
170 |
3.3e-8 |
PROSPERO |
|
internal_repeat_2
|
144 |
161 |
5.26e-5 |
PROSPERO |
|
low complexity region
|
171 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
227 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
228 |
245 |
5.26e-5 |
PROSPERO |
|
low complexity region
|
324 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
593 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000115116
AA Change: T109S
|
| SMART Domains |
Protein: ENSMUSP00000110769
Gene: ENSMUSG00000035638
AA Change: T109S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
113 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
114 |
146 |
2.16e-8 |
PROSPERO |
|
internal_repeat_1
|
138 |
170 |
2.16e-8 |
PROSPERO |
|
internal_repeat_2
|
144 |
161 |
4e-5 |
PROSPERO |
|
low complexity region
|
171 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
227 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
228 |
245 |
4e-5 |
PROSPERO |
|
low complexity region
|
324 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
679 |
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.] This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
C |
9: 122,777,056 (GRCm39) |
D124G |
probably benign |
Het |
| Adamts13 |
T |
A |
2: 26,879,295 (GRCm39) |
I616N |
possibly damaging |
Het |
| Adamts3 |
T |
C |
5: 89,854,506 (GRCm39) |
|
probably null |
Het |
| Amy1 |
T |
C |
3: 113,357,234 (GRCm39) |
I202V |
probably benign |
Het |
| Bdp1 |
G |
A |
13: 100,225,916 (GRCm39) |
T322I |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,264,316 (GRCm39) |
L110S |
probably damaging |
Het |
| Cep72 |
T |
C |
13: 74,198,273 (GRCm39) |
D369G |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,239,739 (GRCm39) |
|
probably benign |
Het |
| Ckmt2 |
G |
A |
13: 92,011,459 (GRCm39) |
|
probably benign |
Het |
| Cyp2s1 |
T |
C |
7: 25,507,562 (GRCm39) |
T296A |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,668,957 (GRCm39) |
V283E |
probably benign |
Het |
| Eeig2 |
A |
G |
3: 108,887,608 (GRCm39) |
Y219H |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,019,498 (GRCm39) |
T658A |
probably damaging |
Het |
| Gml |
A |
T |
15: 74,688,289 (GRCm39) |
Y59* |
probably null |
Het |
| Kmo |
A |
T |
1: 175,476,889 (GRCm39) |
|
probably benign |
Het |
| Krt25 |
A |
T |
11: 99,213,398 (GRCm39) |
I107N |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,744,111 (GRCm39) |
M773V |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Med12 |
T |
C |
X: 100,325,396 (GRCm39) |
V761A |
probably damaging |
Het |
| Mrpl19 |
T |
C |
6: 81,940,942 (GRCm39) |
T150A |
probably benign |
Het |
| Muc2 |
G |
T |
7: 141,305,609 (GRCm39) |
E646* |
probably null |
Het |
| Nr2f6 |
T |
C |
8: 71,827,156 (GRCm39) |
T382A |
probably benign |
Het |
| Nrap |
A |
G |
19: 56,370,741 (GRCm39) |
I172T |
probably damaging |
Het |
| Or5an1 |
A |
G |
19: 12,260,862 (GRCm39) |
Y150C |
probably benign |
Het |
| Or8b47 |
T |
C |
9: 38,435,408 (GRCm39) |
C127R |
probably benign |
Het |
| P3h1 |
A |
T |
4: 119,105,152 (GRCm39) |
Q710L |
probably benign |
Het |
| Parvb |
A |
G |
15: 84,177,016 (GRCm39) |
H185R |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,484,645 (GRCm39) |
I1970T |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,592,983 (GRCm39) |
Y1710C |
probably damaging |
Het |
| Plxna2 |
C |
A |
1: 194,326,272 (GRCm39) |
R69S |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,506,930 (GRCm39) |
N284S |
possibly damaging |
Het |
| Reln |
T |
A |
5: 22,176,949 (GRCm39) |
S1906C |
possibly damaging |
Het |
| Rln1 |
T |
C |
19: 29,311,798 (GRCm39) |
R67G |
probably damaging |
Het |
| Shcbp1 |
C |
T |
8: 4,804,239 (GRCm39) |
V224I |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,260,172 (GRCm39) |
|
probably null |
Het |
| Stx6 |
A |
G |
1: 155,069,059 (GRCm39) |
E195G |
possibly damaging |
Het |
| Sult2b1 |
G |
T |
7: 45,391,509 (GRCm39) |
D90E |
possibly damaging |
Het |
| Taok1 |
A |
G |
11: 77,431,066 (GRCm39) |
|
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,259,826 (GRCm39) |
M566L |
probably benign |
Het |
| Tcaf1 |
C |
T |
6: 42,663,584 (GRCm39) |
A99T |
probably benign |
Het |
| Tcf20 |
T |
A |
15: 82,737,660 (GRCm39) |
M1264L |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,523,281 (GRCm39) |
V1571M |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,288,726 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
C |
A |
2: 120,801,084 (GRCm39) |
|
probably benign |
Het |
| Ulk1 |
T |
C |
5: 110,935,487 (GRCm39) |
D926G |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,804,033 (GRCm39) |
I181V |
probably benign |
Het |
| Vmn2r66 |
G |
A |
7: 84,656,020 (GRCm39) |
T332I |
probably damaging |
Het |
| Wdr1 |
C |
A |
5: 38,688,453 (GRCm39) |
D161Y |
probably damaging |
Het |
| Wnt7a |
T |
C |
6: 91,371,539 (GRCm39) |
Y141C |
probably damaging |
Het |
| Xrra1 |
G |
A |
7: 99,565,150 (GRCm39) |
E573K |
probably benign |
Het |
| Zfp334 |
G |
T |
2: 165,223,771 (GRCm39) |
Q91K |
possibly damaging |
Het |
|
| Other mutations in Muc20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01953:Muc20
|
APN |
16 |
32,614,073 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02016:Muc20
|
APN |
16 |
32,617,722 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02092:Muc20
|
APN |
16 |
32,614,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6669_muc20_072
|
UTSW |
16 |
32,614,307 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0552:Muc20
|
UTSW |
16 |
32,614,300 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0629:Muc20
|
UTSW |
16 |
32,613,791 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0669:Muc20
|
UTSW |
16 |
32,614,850 (GRCm39) |
missense |
unknown |
|
|
R0725:Muc20
|
UTSW |
16 |
32,613,858 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1676:Muc20
|
UTSW |
16 |
32,614,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Muc20
|
UTSW |
16 |
32,614,222 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1778:Muc20
|
UTSW |
16 |
32,614,511 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1967:Muc20
|
UTSW |
16 |
32,614,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2104:Muc20
|
UTSW |
16 |
32,614,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3054:Muc20
|
UTSW |
16 |
32,599,403 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4704:Muc20
|
UTSW |
16 |
32,599,448 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4893:Muc20
|
UTSW |
16 |
32,615,042 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4986:Muc20
|
UTSW |
16 |
32,598,009 (GRCm39) |
intron |
probably benign |
|
|
R5191:Muc20
|
UTSW |
16 |
32,614,846 (GRCm39) |
missense |
unknown |
|
|
R5195:Muc20
|
UTSW |
16 |
32,614,846 (GRCm39) |
missense |
unknown |
|
|
R5875:Muc20
|
UTSW |
16 |
32,614,189 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5931:Muc20
|
UTSW |
16 |
32,614,944 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6434:Muc20
|
UTSW |
16 |
32,615,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6523:Muc20
|
UTSW |
16 |
32,613,820 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6580:Muc20
|
UTSW |
16 |
32,613,859 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6669:Muc20
|
UTSW |
16 |
32,614,307 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7028:Muc20
|
UTSW |
16 |
32,614,616 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7681:Muc20
|
UTSW |
16 |
32,613,989 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7722:Muc20
|
UTSW |
16 |
32,617,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8678:Muc20
|
UTSW |
16 |
32,617,789 (GRCm39) |
start gained |
probably benign |
|
|
R8730:Muc20
|
UTSW |
16 |
32,599,490 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8838:Muc20
|
UTSW |
16 |
32,613,829 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9017:Muc20
|
UTSW |
16 |
32,614,840 (GRCm39) |
missense |
unknown |
|
|
R9230:Muc20
|
UTSW |
16 |
32,613,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9368:Muc20
|
UTSW |
16 |
32,614,471 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9474:Muc20
|
UTSW |
16 |
32,614,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9486:Muc20
|
UTSW |
16 |
32,615,248 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9603:Muc20
|
UTSW |
16 |
32,615,155 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9710:Muc20
|
UTSW |
16 |
32,615,266 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
W0251:Muc20
|
UTSW |
16 |
32,614,223 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0011:Muc20
|
UTSW |
16 |
32,613,622 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Posted On |
2015-04-16 |
Incidental Mutation