Incidental Mutation 'IGL02092:Muc20'
| ID |
279452 |
| 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 # |
IGL02092
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32597793-32617805 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32614642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 245
(S245F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041123]
[ENSMUST00000115116]
|
| AlphaFold |
Q8BUE7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041123
AA Change: S245F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041221
Gene: ENSMUSG00000035638
AA Change: S245F
| 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: S245F
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110769
Gene: ENSMUSG00000035638
AA Change: S245F
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010H22Rik |
T |
A |
5: 98,714,627 (GRCm39) |
|
probably benign |
Het |
| Birc7 |
A |
T |
2: 180,574,979 (GRCm39) |
R238S |
probably benign |
Het |
| Cdc42bpg |
C |
A |
19: 6,366,856 (GRCm39) |
|
probably benign |
Het |
| Ces3a |
T |
C |
8: 105,776,962 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,211,137 (GRCm39) |
F517S |
probably damaging |
Het |
| Cracr2b |
A |
G |
7: 141,044,869 (GRCm39) |
E201G |
probably damaging |
Het |
| Cyth3 |
T |
C |
5: 143,693,140 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
T |
13: 31,059,260 (GRCm39) |
N611K |
probably benign |
Het |
| Fign |
A |
T |
2: 63,810,927 (GRCm39) |
N114K |
possibly damaging |
Het |
| Gabrb3 |
A |
G |
7: 57,415,334 (GRCm39) |
T135A |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,828,416 (GRCm39) |
K155E |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,286,948 (GRCm39) |
L609S |
probably damaging |
Het |
| Kcp |
C |
A |
6: 29,489,031 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
A |
G |
1: 40,025,943 (GRCm39) |
K311R |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,063,508 (GRCm39) |
K1228E |
probably damaging |
Het |
| Or10ak8 |
A |
G |
4: 118,774,187 (GRCm39) |
L159S |
possibly damaging |
Het |
| Or7g33 |
T |
A |
9: 19,449,046 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8b36 |
T |
G |
9: 37,937,917 (GRCm39) |
S272A |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,136,360 (GRCm39) |
M892T |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,784,637 (GRCm39) |
T234A |
probably damaging |
Het |
| Sema4g |
G |
A |
19: 44,981,078 (GRCm39) |
|
probably null |
Het |
| Slc35a3 |
A |
G |
3: 116,474,781 (GRCm39) |
S204P |
probably damaging |
Het |
| Speer4f2 |
C |
T |
5: 17,581,627 (GRCm39) |
Q190* |
probably null |
Het |
| Szt2 |
A |
G |
4: 118,220,529 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
T |
C |
6: 82,380,900 (GRCm39) |
Y104H |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,120 (GRCm39) |
E173G |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,749,695 (GRCm39) |
I8T |
possibly damaging |
Het |
| Trpv1 |
T |
A |
11: 73,136,905 (GRCm39) |
|
probably benign |
Het |
| Ufsp2 |
T |
C |
8: 46,448,701 (GRCm39) |
|
probably null |
Het |
| Wwc2 |
T |
C |
8: 48,317,570 (GRCm39) |
D669G |
unknown |
Het |
| Zfp940 |
T |
C |
7: 29,545,626 (GRCm39) |
T94A |
probably benign |
Het |
| Zfp947 |
T |
G |
17: 22,366,477 (GRCm39) |
D17A |
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 |
|
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 |
|
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