Incidental Mutation 'R9603:Muc20'
| ID |
723806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Muc20
|
| Ensembl Gene |
ENSMUSG00000035638 |
| Gene Name |
mucin 20 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R9603 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
32597793-32617805 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32615155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 74
(L74P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041123]
[ENSMUST00000115116]
|
| AlphaFold |
Q8BUE7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041123
AA Change: L74P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041221
Gene: ENSMUSG00000035638
AA Change: L74P
| 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 damaging
Transcript: ENSMUST00000115116
AA Change: L74P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110769
Gene: ENSMUSG00000035638
AA Change: L74P
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
T |
11: 54,225,911 (GRCm39) |
N317I |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,118,147 (GRCm39) |
S590C |
possibly damaging |
Het |
| Btrc |
G |
A |
19: 45,459,526 (GRCm39) |
E103K |
probably benign |
Het |
| Cars1 |
A |
G |
7: 143,112,929 (GRCm39) |
M766T |
possibly damaging |
Het |
| Cavin4 |
T |
C |
4: 48,671,999 (GRCm39) |
V148A |
probably benign |
Het |
| Cdcp3 |
T |
C |
7: 130,830,643 (GRCm39) |
V359A |
probably damaging |
Het |
| Cdkn2d |
T |
C |
9: 21,202,139 (GRCm39) |
D36G |
possibly damaging |
Het |
| Cubn |
A |
T |
2: 13,292,510 (GRCm39) |
D3224E |
probably damaging |
Het |
| Ebf1 |
A |
G |
11: 44,509,006 (GRCm39) |
M1V |
probably null |
Het |
| Eif1ad7 |
T |
G |
12: 88,238,727 (GRCm39) |
N11T |
unknown |
Het |
| Fcgbp |
A |
G |
7: 27,802,563 (GRCm39) |
D1497G |
probably damaging |
Het |
| Foxs1 |
A |
C |
2: 152,774,281 (GRCm39) |
C257W |
probably damaging |
Het |
| Fstl5 |
C |
T |
3: 76,496,260 (GRCm39) |
P341L |
probably damaging |
Het |
| Fzd10 |
G |
A |
5: 128,678,771 (GRCm39) |
G164S |
probably benign |
Het |
| Hrh3 |
C |
A |
2: 179,742,444 (GRCm39) |
E395* |
probably null |
Het |
| Hsf4 |
G |
A |
8: 105,999,435 (GRCm39) |
V318M |
probably damaging |
Het |
| Il21 |
T |
C |
3: 37,281,949 (GRCm39) |
E65G |
possibly damaging |
Het |
| Kank1 |
A |
G |
19: 25,408,289 (GRCm39) |
D1256G |
possibly damaging |
Het |
| Klhl22 |
A |
G |
16: 17,594,915 (GRCm39) |
N348S |
possibly damaging |
Het |
| Krr1 |
T |
C |
10: 111,812,672 (GRCm39) |
I94T |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,550,410 (GRCm39) |
D724G |
probably damaging |
Het |
| Mn1 |
C |
A |
5: 111,566,393 (GRCm39) |
P121Q |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,463,015 (GRCm39) |
L10* |
probably null |
Het |
| Mtus1 |
A |
T |
8: 41,536,795 (GRCm39) |
V307E |
probably benign |
Het |
| Nnat |
A |
G |
2: 157,403,701 (GRCm39) |
*113W |
probably null |
Het |
| Or13a25 |
G |
T |
7: 140,247,794 (GRCm39) |
C191F |
probably damaging |
Het |
| Or2f1b |
C |
T |
6: 42,739,672 (GRCm39) |
Q229* |
probably null |
Het |
| Or4f14 |
A |
G |
2: 111,743,128 (GRCm39) |
V49A |
possibly damaging |
Het |
| Or6b6 |
A |
T |
7: 106,571,103 (GRCm39) |
Y149* |
probably null |
Het |
| Pkm |
T |
A |
9: 59,577,831 (GRCm39) |
V216E |
probably damaging |
Het |
| Pla2g12a |
G |
A |
3: 129,674,900 (GRCm39) |
V19I |
unknown |
Het |
| Pramel27 |
T |
C |
4: 143,578,267 (GRCm39) |
S176P |
|
Het |
| Rai14 |
G |
A |
15: 10,595,116 (GRCm39) |
Q136* |
probably null |
Het |
| Rnf150 |
T |
A |
8: 83,717,208 (GRCm39) |
N238K |
possibly damaging |
Het |
| Rrp1 |
A |
G |
10: 78,240,757 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
T |
A |
17: 3,246,070 (GRCm39) |
L720M |
possibly damaging |
Het |
| Slamf1 |
G |
T |
1: 171,625,771 (GRCm39) |
V316L |
probably damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc25a20 |
T |
C |
9: 108,549,675 (GRCm39) |
F86L |
probably benign |
Het |
| Slc4a5 |
T |
G |
6: 83,217,714 (GRCm39) |
S131A |
probably benign |
Het |
| Slitrk3 |
A |
G |
3: 72,958,649 (GRCm39) |
I41T |
probably benign |
Het |
| Sntg1 |
A |
T |
1: 8,748,198 (GRCm39) |
L94Q |
probably damaging |
Het |
| St18 |
T |
C |
1: 6,915,811 (GRCm39) |
C819R |
probably damaging |
Het |
| St6galnac3 |
T |
A |
3: 153,117,177 (GRCm39) |
D182V |
probably benign |
Het |
| Tubgcp2 |
T |
A |
7: 139,584,789 (GRCm39) |
T549S |
probably benign |
Het |
| Vim |
A |
T |
2: 13,579,148 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
C |
A |
17: 55,899,837 (GRCm39) |
R689I |
probably damaging |
Het |
| Zbtb41 |
A |
T |
1: 139,375,255 (GRCm39) |
E905V |
probably damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,499,288 (GRCm39) |
D1284E |
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 |
|
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 |
|
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'- ATCCAGGGACGATGCTATTG -3'
(R):5'- AACTGTGATGTCAGTCCACTGG -3'
Sequencing Primer
(F):5'- ACGATGCTATTGGGGAGGTAATC -3'
(R):5'- GGCACTCACCAGGTTGTTC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation