Incidental Mutation 'R6669:Muc20'
ID |
528072 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Muc20
|
Ensembl Gene |
ENSMUSG00000035638 |
Gene Name |
mucin 20 |
Synonyms |
|
MMRRC Submission |
044789-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R6669 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
32597793-32617805 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32614307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 357
(T357A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041221
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041123]
[ENSMUST00000115116]
|
AlphaFold |
Q8BUE7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041123
AA Change: T357A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000041221 Gene: ENSMUSG00000035638 AA Change: T357A
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 |
probably benign
Transcript: ENSMUST00000115116
AA Change: T357A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000110769 Gene: ENSMUSG00000035638 AA Change: T357A
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
Validation Efficiency |
97% (33/34) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ascc3 |
A |
G |
10: 50,716,469 (GRCm39) |
I1952V |
probably benign |
Het |
Atg2b |
T |
C |
12: 105,637,788 (GRCm39) |
E142G |
possibly damaging |
Het |
Bbc3 |
G |
T |
7: 16,047,641 (GRCm39) |
A122S |
possibly damaging |
Het |
Cenpu |
T |
C |
8: 47,029,319 (GRCm39) |
S191P |
probably damaging |
Het |
Clic3 |
G |
T |
2: 25,347,779 (GRCm39) |
R48L |
possibly damaging |
Het |
Cmya5 |
T |
C |
13: 93,229,767 (GRCm39) |
K1774E |
probably benign |
Het |
Cnst |
T |
A |
1: 179,432,638 (GRCm39) |
|
probably null |
Het |
Cyfip1 |
T |
A |
7: 55,549,809 (GRCm39) |
S657T |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,570,572 (GRCm39) |
Y322C |
probably damaging |
Het |
Epn2 |
C |
T |
11: 61,410,384 (GRCm39) |
V550I |
probably benign |
Het |
Evc2 |
C |
T |
5: 37,535,722 (GRCm39) |
P466S |
possibly damaging |
Het |
Fancd2 |
C |
T |
6: 113,570,288 (GRCm39) |
T1413I |
probably benign |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Herc4 |
T |
A |
10: 63,121,847 (GRCm39) |
W400R |
probably benign |
Het |
Kcna7 |
T |
C |
7: 45,058,988 (GRCm39) |
V425A |
probably damaging |
Het |
Klhl3 |
A |
T |
13: 58,158,966 (GRCm39) |
D564E |
probably benign |
Het |
Man2b2 |
T |
C |
5: 36,967,702 (GRCm39) |
I889V |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,343,171 (GRCm39) |
I1688V |
probably damaging |
Het |
Mocos |
T |
A |
18: 24,799,467 (GRCm39) |
F234I |
probably damaging |
Het |
Ncoa6 |
T |
G |
2: 155,241,613 (GRCm39) |
|
probably null |
Het |
Nlk |
C |
A |
11: 78,477,892 (GRCm39) |
G284* |
probably null |
Het |
Nrxn1 |
T |
A |
17: 90,366,991 (GRCm39) |
T12S |
probably damaging |
Het |
Nrxn2 |
A |
G |
19: 6,531,221 (GRCm39) |
Y627C |
probably damaging |
Het |
Ntn1 |
T |
C |
11: 68,276,576 (GRCm39) |
N124S |
probably benign |
Het |
Pdzd7 |
T |
A |
19: 45,025,190 (GRCm39) |
Q435L |
possibly damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
Slc30a10 |
G |
A |
1: 185,196,625 (GRCm39) |
R429Q |
probably benign |
Het |
Tox4 |
T |
C |
14: 52,524,213 (GRCm39) |
Y116H |
probably damaging |
Het |
Trpv5 |
G |
A |
6: 41,634,976 (GRCm39) |
A451V |
probably damaging |
Het |
Ube3a |
T |
C |
7: 58,926,605 (GRCm39) |
V482A |
probably benign |
Het |
Vcan |
A |
T |
13: 89,852,850 (GRCm39) |
D703E |
probably benign |
Het |
Xirp2 |
C |
A |
2: 67,343,699 (GRCm39) |
A1980E |
possibly damaging |
Het |
Xrcc1 |
T |
C |
7: 24,246,762 (GRCm39) |
V10A |
probably 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 |
IGL02415:Muc20
|
APN |
16 |
32,615,051 (GRCm39) |
missense |
unknown |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGTTGACAGGATCCCAG -3'
(R):5'- ACCCTTTGTACCGATGACAG -3'
Sequencing Primer
(F):5'- CAGGATCCCAGATAAGCTTGTGGTC -3'
(R):5'- CTTTGTACCGATGACAGCTCTGAAG -3'
|
Posted On |
2018-07-24 |