Incidental Mutation 'R3054:Muc20'
| ID |
265097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Muc20
|
| Ensembl Gene |
ENSMUSG00000035638 |
| Gene Name |
mucin 20 |
| Synonyms |
|
| MMRRC Submission |
040563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R3054 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
32597793-32617805 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32599403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 3317
(F3317L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096106]
[ENSMUST00000115116]
|
| AlphaFold |
Q8BUE7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096106
AA Change: F3317L
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000093813
Gene: ENSMUSG00000079620
AA Change: F3317L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
111 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
119 |
903 |
6.07e-127 |
PROSPERO |
|
internal_repeat_1
|
164 |
987 |
3.47e-144 |
PROSPERO |
|
internal_repeat_2
|
979 |
1875 |
6.07e-127 |
PROSPERO |
|
internal_repeat_1
|
1193 |
2087 |
3.47e-144 |
PROSPERO |
|
low complexity region
|
2090 |
2106 |
N/A |
INTRINSIC |
|
low complexity region
|
2111 |
2119 |
N/A |
INTRINSIC |
|
low complexity region
|
2186 |
2195 |
N/A |
INTRINSIC |
|
low complexity region
|
2230 |
2249 |
N/A |
INTRINSIC |
|
low complexity region
|
2324 |
2332 |
N/A |
INTRINSIC |
|
low complexity region
|
2344 |
2367 |
N/A |
INTRINSIC |
|
NIDO
|
2458 |
2615 |
8.33e-67 |
SMART |
|
AMOP
|
2614 |
2726 |
1.29e-47 |
SMART |
|
VWD
|
2729 |
2910 |
4.23e-26 |
SMART |
|
EGF_like
|
3134 |
3166 |
3.23e1 |
SMART |
|
EGF_like
|
3176 |
3212 |
3.5e1 |
SMART |
|
low complexity region
|
3237 |
3251 |
N/A |
INTRINSIC |
|
EGF
|
3384 |
3421 |
1.4e0 |
SMART |
|
transmembrane domain
|
3430 |
3452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000115116
AA Change: R674G
|
| SMART Domains |
Protein: ENSMUSP00000110769
Gene: ENSMUSG00000035638
AA Change: R674G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115119
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131419
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135753
AA Change: F1247L
|
| SMART Domains |
Protein: ENSMUSP00000119154
Gene: ENSMUSG00000079620
AA Change: F1247L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
298 |
N/A |
INTRINSIC |
|
NIDO
|
389 |
546 |
8.33e-67 |
SMART |
|
AMOP
|
545 |
657 |
1.29e-47 |
SMART |
|
VWD
|
660 |
841 |
4.23e-26 |
SMART |
|
EGF_like
|
1065 |
1097 |
3.23e1 |
SMART |
|
EGF_like
|
1107 |
1143 |
3.5e1 |
SMART |
|
low complexity region
|
1168 |
1182 |
N/A |
INTRINSIC |
|
EGF
|
1315 |
1352 |
1.4e0 |
SMART |
|
transmembrane domain
|
1361 |
1383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142355
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149773
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
A |
T |
6: 52,156,108 (GRCm39) |
|
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,338,336 (GRCm39) |
K528E |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,254,653 (GRCm39) |
C235R |
probably damaging |
Het |
| Armc6 |
C |
A |
8: 70,677,799 (GRCm39) |
V177L |
probably benign |
Het |
| Asb7 |
A |
T |
7: 66,328,959 (GRCm39) |
V27D |
probably damaging |
Het |
| Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,328,001 (GRCm39) |
N361S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,076 (GRCm39) |
L7P |
probably benign |
Het |
| Cst3 |
A |
G |
2: 148,713,951 (GRCm39) |
S118P |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,638,254 (GRCm39) |
D84G |
probably damaging |
Het |
| Ddo |
A |
G |
10: 40,507,738 (GRCm39) |
N45S |
probably benign |
Het |
| Drd4 |
T |
C |
7: 140,874,392 (GRCm39) |
V319A |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,871,792 (GRCm39) |
R3533H |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,912,802 (GRCm39) |
I3369F |
probably damaging |
Het |
| Gm5591 |
T |
C |
7: 38,220,058 (GRCm39) |
S272G |
probably benign |
Het |
| Gm8444 |
A |
T |
15: 81,727,845 (GRCm39) |
|
probably benign |
Het |
| Gm9776 |
A |
G |
13: 94,495,158 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Larp1b |
A |
T |
3: 40,918,535 (GRCm39) |
I59F |
probably benign |
Het |
| Ltn1 |
C |
T |
16: 87,200,961 (GRCm39) |
A1092T |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,569,250 (GRCm39) |
V1157A |
unknown |
Het |
| Mboat1 |
A |
T |
13: 30,379,724 (GRCm39) |
M92L |
probably benign |
Het |
| Meis3 |
G |
T |
7: 15,916,378 (GRCm39) |
L284F |
probably damaging |
Het |
| Muc5b |
G |
T |
7: 141,417,778 (GRCm39) |
V3575F |
probably damaging |
Het |
| Polr1e |
C |
T |
4: 45,018,724 (GRCm39) |
T18I |
possibly damaging |
Het |
| Ppp4r1 |
G |
T |
17: 66,143,074 (GRCm39) |
A764S |
probably damaging |
Het |
| Psg29 |
A |
G |
7: 16,942,727 (GRCm39) |
T243A |
probably benign |
Het |
| Ptprn2 |
T |
C |
12: 116,685,753 (GRCm39) |
Y71H |
probably damaging |
Het |
| Radx |
T |
A |
X: 138,412,306 (GRCm39) |
V439E |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,622 (GRCm39) |
P584S |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,862,163 (GRCm39) |
H35Q |
probably damaging |
Het |
| Strn |
A |
T |
17: 78,990,321 (GRCm39) |
V65D |
probably damaging |
Het |
| Sumf1 |
T |
C |
6: 108,130,165 (GRCm39) |
N185D |
probably benign |
Het |
| Timm29 |
T |
C |
9: 21,504,887 (GRCm39) |
M185T |
probably damaging |
Het |
| Tjp3 |
T |
C |
10: 81,116,341 (GRCm39) |
K251R |
probably benign |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,806 (GRCm39) |
M72K |
probably damaging |
Het |
| Utp14b |
T |
A |
1: 78,642,442 (GRCm39) |
D113E |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,646,507 (GRCm39) |
E1537G |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,154,593 (GRCm39) |
N592S |
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 |
|
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'- TTCTCCAACAGCTTAGTGGAACTG -3'
(R):5'- AGATCTGTCATGGCCCTCTG -3'
Sequencing Primer
(F):5'- TAAGTGAAGCTGTCCCCCATG -3'
(R):5'- GCTTTTCTCCTCTAACAAATCCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation