Incidental Mutation 'IGL03160:Muc1'
| ID |
411366 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Muc1
|
| Ensembl Gene |
ENSMUSG00000042784 |
| Gene Name |
mucin 1, transmembrane |
| Synonyms |
Muc-1, EMA, CD227 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.340)
|
| Stock # |
IGL03160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89136364-89140688 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89140331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 608
(V608I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041022]
[ENSMUST00000041142]
[ENSMUST00000090924]
[ENSMUST00000107464]
[ENSMUST00000143637]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041022
|
| SMART Domains |
Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
33 |
133 |
1.92e-6 |
SMART |
|
BBOX
|
222 |
263 |
9.59e-7 |
SMART |
|
Blast:BBC
|
271 |
395 |
3e-13 |
BLAST |
|
FN3
|
430 |
515 |
2.03e-2 |
SMART |
|
low complexity region
|
561 |
571 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041142
AA Change: V608I
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041963
Gene: ENSMUSG00000042784
AA Change: V608I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
46 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
48 |
106 |
4.93e-6 |
PROSPERO |
|
internal_repeat_1
|
79 |
151 |
3.46e-38 |
PROSPERO |
|
low complexity region
|
153 |
181 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
183 |
254 |
3.46e-38 |
PROSPERO |
|
internal_repeat_2
|
192 |
259 |
4.93e-6 |
PROSPERO |
|
low complexity region
|
277 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
400 |
N/A |
INTRINSIC |
|
SEA
|
412 |
528 |
6.2e-43 |
SMART |
|
low complexity region
|
537 |
552 |
N/A |
INTRINSIC |
|
Blast:SEA
|
557 |
624 |
2e-36 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090924
|
| SMART Domains |
Protein: ENSMUSP00000088442
Gene: ENSMUSG00000042766
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
20 |
120 |
1.92e-6 |
SMART |
|
BBOX
|
209 |
250 |
9.59e-7 |
SMART |
|
Blast:BBC
|
258 |
382 |
8e-13 |
BLAST |
|
FN3
|
417 |
502 |
2.03e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107464
|
| SMART Domains |
Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
10 |
110 |
1.92e-6 |
SMART |
|
BBOX
|
199 |
240 |
9.59e-7 |
SMART |
|
Blast:BBC
|
248 |
372 |
2e-13 |
BLAST |
|
FN3
|
407 |
492 |
2.03e-2 |
SMART |
|
low complexity region
|
538 |
548 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139206
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139419
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143637
|
| SMART Domains |
Protein: ENSMUSP00000119270
Gene: ENSMUSG00000042766
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
33 |
133 |
1.92e-6 |
SMART |
|
BBOX
|
222 |
263 |
9.59e-7 |
SMART |
|
Blast:BBC
|
270 |
391 |
4e-11 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146844
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display delayed mammary tumor progression, impaired intestinal absorption of cholesterol, decreased gastric mucus accumulation, reduced secretion and accumulation of gallbladder mucin, and decreased susceptibility to cholesterol gallstone formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
C |
13: 111,392,462 (GRCm39) |
S266P |
probably benign |
Het |
| Agrn |
A |
T |
4: 156,254,820 (GRCm39) |
F1525Y |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,380,165 (GRCm39) |
V2165A |
probably damaging |
Het |
| Ccn6 |
T |
C |
10: 39,029,233 (GRCm39) |
T232A |
probably damaging |
Het |
| Cd109 |
G |
T |
9: 78,568,338 (GRCm39) |
|
probably null |
Het |
| Cdhr4 |
A |
C |
9: 107,873,068 (GRCm39) |
T339P |
probably benign |
Het |
| Chek1 |
T |
C |
9: 36,633,941 (GRCm39) |
H128R |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,365,427 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,998,880 (GRCm39) |
F1056S |
probably damaging |
Het |
| Eml3 |
A |
T |
19: 8,912,319 (GRCm39) |
Q372L |
probably benign |
Het |
| Fam161b |
T |
C |
12: 84,400,599 (GRCm39) |
T458A |
probably benign |
Het |
| Fbxo3 |
T |
A |
2: 103,860,692 (GRCm39) |
C36* |
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,866,309 (GRCm39) |
I369N |
possibly damaging |
Het |
| Gpc1 |
A |
G |
1: 92,785,579 (GRCm39) |
Y423C |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,931,279 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,397,942 (GRCm39) |
Y290F |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,562,670 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
A |
T |
7: 139,500,605 (GRCm39) |
K657* |
probably null |
Het |
| Lama5 |
T |
C |
2: 179,822,128 (GRCm39) |
T2927A |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,622,103 (GRCm39) |
N345I |
probably damaging |
Het |
| Mtbp |
T |
C |
15: 55,484,013 (GRCm39) |
|
probably benign |
Het |
| Or56a3 |
A |
G |
7: 104,735,520 (GRCm39) |
N199S |
probably damaging |
Het |
| P2ry13 |
A |
G |
3: 59,117,496 (GRCm39) |
L94P |
probably damaging |
Het |
| Retreg3 |
G |
T |
11: 100,990,501 (GRCm39) |
Q89K |
probably benign |
Het |
| Rhoq |
A |
C |
17: 87,304,349 (GRCm39) |
Y160S |
probably damaging |
Het |
| Samd9l |
A |
T |
6: 3,374,894 (GRCm39) |
V789D |
probably damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,502,472 (GRCm39) |
S275P |
probably damaging |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Snapc1 |
T |
A |
12: 74,016,978 (GRCm39) |
H205Q |
probably damaging |
Het |
| Stard3 |
G |
T |
11: 98,269,737 (GRCm39) |
R352L |
probably damaging |
Het |
| Stat5a |
A |
G |
11: 100,752,671 (GRCm39) |
I85V |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 49,099,453 (GRCm39) |
D117E |
probably benign |
Het |
| Tg |
T |
A |
15: 66,711,152 (GRCm39) |
C971* |
probably null |
Het |
| Tnrc6c |
T |
A |
11: 117,640,651 (GRCm39) |
|
probably benign |
Het |
| Tra2a |
C |
T |
6: 49,240,798 (GRCm39) |
V4I |
possibly damaging |
Het |
| Trim54 |
C |
T |
5: 31,289,424 (GRCm39) |
T145I |
probably damaging |
Het |
| Vmn2r75 |
T |
C |
7: 85,797,644 (GRCm39) |
D723G |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,903,594 (GRCm39) |
T2042A |
probably damaging |
Het |
| Zfp87 |
T |
C |
13: 67,669,392 (GRCm39) |
E18G |
probably damaging |
Het |
|
| Other mutations in Muc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01152:Muc1
|
APN |
3 |
89,138,061 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01549:Muc1
|
APN |
3 |
89,139,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01969:Muc1
|
APN |
3 |
89,139,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02233:Muc1
|
APN |
3 |
89,138,935 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0670:Muc1
|
UTSW |
3 |
89,137,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0682:Muc1
|
UTSW |
3 |
89,138,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0702:Muc1
|
UTSW |
3 |
89,137,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0744:Muc1
|
UTSW |
3 |
89,137,635 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1137:Muc1
|
UTSW |
3 |
89,137,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1270:Muc1
|
UTSW |
3 |
89,139,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1673:Muc1
|
UTSW |
3 |
89,139,079 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1869:Muc1
|
UTSW |
3 |
89,139,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2169:Muc1
|
UTSW |
3 |
89,138,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4460:Muc1
|
UTSW |
3 |
89,138,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4461:Muc1
|
UTSW |
3 |
89,138,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4672:Muc1
|
UTSW |
3 |
89,139,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5892:Muc1
|
UTSW |
3 |
89,138,300 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6039:Muc1
|
UTSW |
3 |
89,139,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Muc1
|
UTSW |
3 |
89,139,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6931:Muc1
|
UTSW |
3 |
89,136,466 (GRCm39) |
unclassified |
probably benign |
|
|
R7400:Muc1
|
UTSW |
3 |
89,137,953 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8210:Muc1
|
UTSW |
3 |
89,138,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8258:Muc1
|
UTSW |
3 |
89,139,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8259:Muc1
|
UTSW |
3 |
89,139,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8714:Muc1
|
UTSW |
3 |
89,138,821 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8715:Muc1
|
UTSW |
3 |
89,138,821 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8717:Muc1
|
UTSW |
3 |
89,138,821 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8851:Muc1
|
UTSW |
3 |
89,138,425 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8854:Muc1
|
UTSW |
3 |
89,139,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9314:Muc1
|
UTSW |
3 |
89,138,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9584:Muc1
|
UTSW |
3 |
89,138,373 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9706:Muc1
|
UTSW |
3 |
89,138,888 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0065:Muc1
|
UTSW |
3 |
89,137,593 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation