Incidental Mutation 'R0725:Muc20'
ID |
218386 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Muc20
|
Ensembl Gene |
ENSMUSG00000035638 |
Gene Name |
mucin 20 |
Synonyms |
|
MMRRC Submission |
038907-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R0725 (G1)
|
Quality Score |
58 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
32597793-32617805 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 32613858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 506
(M506I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041123]
[ENSMUST00000115116]
|
AlphaFold |
Q8BUE7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041123
AA Change: M506I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000041221 Gene: ENSMUSG00000035638 AA Change: M506I
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: M506I
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000110769 Gene: ENSMUSG00000035638 AA Change: M506I
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.7%
|
Validation Efficiency |
100% (70/70) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asph |
C |
T |
4: 9,542,275 (GRCm39) |
D305N |
probably damaging |
Het |
Atp13a3 |
T |
C |
16: 30,170,205 (GRCm39) |
K327R |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,026,264 (GRCm39) |
|
probably benign |
Het |
Ccnk |
T |
C |
12: 108,161,834 (GRCm39) |
|
probably benign |
Het |
Cep55 |
T |
C |
19: 38,048,622 (GRCm39) |
S93P |
possibly damaging |
Het |
Cfap300 |
A |
T |
9: 8,027,144 (GRCm39) |
D131E |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,085,081 (GRCm39) |
|
probably benign |
Het |
Clptm1l |
A |
G |
13: 73,754,462 (GRCm39) |
T129A |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 116,220,206 (GRCm39) |
E672G |
probably benign |
Het |
Cpped1 |
C |
A |
16: 11,646,314 (GRCm39) |
W170L |
probably damaging |
Het |
Crygb |
T |
C |
1: 65,121,100 (GRCm39) |
I76V |
probably benign |
Het |
Cyp3a25 |
A |
G |
5: 145,931,746 (GRCm39) |
S121P |
probably damaging |
Het |
Cyp4b1 |
T |
C |
4: 115,484,024 (GRCm39) |
D395G |
probably damaging |
Het |
Dll4 |
T |
C |
2: 119,163,170 (GRCm39) |
V597A |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,833,528 (GRCm39) |
D1891G |
probably damaging |
Het |
Dsel |
T |
C |
1: 111,787,682 (GRCm39) |
D951G |
possibly damaging |
Het |
Dync2h1 |
C |
A |
9: 7,015,497 (GRCm39) |
V3603F |
possibly damaging |
Het |
Fam167b |
C |
A |
4: 129,472,078 (GRCm39) |
A31S |
probably damaging |
Het |
Fgfrl1 |
T |
A |
5: 108,852,539 (GRCm39) |
I25N |
probably damaging |
Het |
Gzf1 |
C |
T |
2: 148,526,569 (GRCm39) |
R347* |
probably null |
Het |
Heatr5b |
T |
A |
17: 79,103,825 (GRCm39) |
I1117F |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,907,767 (GRCm39) |
V456A |
possibly damaging |
Het |
Macc1 |
C |
A |
12: 119,411,251 (GRCm39) |
S673* |
probably null |
Het |
Mpp4 |
T |
C |
1: 59,160,581 (GRCm39) |
E574G |
probably damaging |
Het |
Ncbp1 |
A |
G |
4: 46,152,056 (GRCm39) |
T218A |
probably benign |
Het |
Nfxl1 |
A |
T |
5: 72,716,473 (GRCm39) |
V46E |
probably benign |
Het |
Nfyc |
G |
T |
4: 120,625,931 (GRCm39) |
|
probably benign |
Het |
Niban1 |
A |
G |
1: 151,581,766 (GRCm39) |
E454G |
probably benign |
Het |
Or51f5 |
T |
A |
7: 102,423,739 (GRCm39) |
S3T |
probably benign |
Het |
Or8g55 |
A |
T |
9: 39,784,643 (GRCm39) |
Q24L |
probably damaging |
Het |
Osbpl8 |
T |
C |
10: 111,122,101 (GRCm39) |
F681S |
possibly damaging |
Het |
Pcm1 |
G |
C |
8: 41,740,848 (GRCm39) |
E1031D |
probably damaging |
Het |
Pdcd11 |
A |
G |
19: 47,115,730 (GRCm39) |
E1486G |
probably benign |
Het |
Pex12 |
G |
T |
11: 83,188,860 (GRCm39) |
A45E |
probably damaging |
Het |
Pheta1 |
T |
A |
5: 121,991,314 (GRCm39) |
H225Q |
probably benign |
Het |
Pigm |
A |
G |
1: 172,204,384 (GRCm39) |
D40G |
probably damaging |
Het |
Pkp1 |
G |
T |
1: 135,808,478 (GRCm39) |
N496K |
probably benign |
Het |
Psmc4 |
T |
C |
7: 27,748,287 (GRCm39) |
I54V |
probably benign |
Het |
Rbm33 |
T |
C |
5: 28,599,481 (GRCm39) |
V951A |
unknown |
Het |
Selenbp2 |
G |
T |
3: 94,604,809 (GRCm39) |
|
probably benign |
Het |
Slc3a1 |
G |
A |
17: 85,368,263 (GRCm39) |
W510* |
probably null |
Het |
Stx12 |
A |
C |
4: 132,584,701 (GRCm39) |
|
probably benign |
Het |
Tas2r125 |
G |
T |
6: 132,887,085 (GRCm39) |
D158Y |
probably benign |
Het |
Tchp |
C |
A |
5: 114,857,682 (GRCm39) |
Q392K |
probably benign |
Het |
Tmed11 |
T |
A |
5: 108,926,855 (GRCm39) |
D139V |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,578,654 (GRCm39) |
V24080M |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,683,722 (GRCm39) |
G4967D |
probably damaging |
Het |
Vezf1 |
T |
C |
11: 87,964,156 (GRCm39) |
S103P |
probably benign |
Het |
Xpnpep3 |
T |
C |
15: 81,315,043 (GRCm39) |
S248P |
probably damaging |
Het |
Yipf2 |
G |
C |
9: 21,503,519 (GRCm39) |
|
probably null |
Het |
Zfp110 |
A |
T |
7: 12,570,290 (GRCm39) |
Q39L |
possibly damaging |
Het |
Zfp287 |
A |
T |
11: 62,605,039 (GRCm39) |
C623S |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCCTTATCCAAGCAGTGGATGCAG -3'
(R):5'- TGAGGCAAAACCAATTTTCCCCGAG -3'
Sequencing Primer
(F):5'- CAAGCAGTGGATGCAGATGTTG -3'
(R):5'- CGAGACCACAAGCTTATCTGG -3'
|
Posted On |
2014-08-01 |