Incidental Mutation 'IGL02233:Muc1'
ID |
285809 |
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 # |
IGL02233
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
89136364-89140688 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 89138935 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 515
(V515I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029682]
[ENSMUST00000041022]
[ENSMUST00000041142]
[ENSMUST00000090924]
[ENSMUST00000107464]
[ENSMUST00000119084]
[ENSMUST00000174126]
[ENSMUST00000143637]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029682
|
SMART Domains |
Protein: ENSMUSP00000029682 Gene: ENSMUSG00000028047
Domain | Start | End | E-Value | Type |
TSPN
|
21 |
193 |
4.71e-56 |
SMART |
Pfam:COMP
|
226 |
270 |
2.5e-22 |
PFAM |
EGF
|
277 |
315 |
8.19e-2 |
SMART |
EGF_CA
|
316 |
369 |
6.91e-9 |
SMART |
EGF_CA
|
370 |
413 |
1.38e-8 |
SMART |
EGF
|
417 |
456 |
1.99e0 |
SMART |
Pfam:TSP_3
|
492 |
527 |
1e-12 |
PFAM |
Pfam:TSP_3
|
551 |
586 |
2.2e-16 |
PFAM |
Pfam:TSP_3
|
586 |
609 |
6.6e-7 |
PFAM |
Pfam:TSP_3
|
610 |
647 |
2.6e-14 |
PFAM |
Pfam:TSP_3
|
648 |
687 |
2.4e-10 |
PFAM |
Pfam:TSP_3
|
688 |
723 |
4.2e-15 |
PFAM |
Pfam:TSP_C
|
741 |
938 |
3.3e-99 |
PFAM |
|
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 |
probably benign
Transcript: ENSMUST00000041142
AA Change: V515I
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000041963 Gene: ENSMUSG00000042784 AA Change: V515I
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 |
noncoding transcript
Transcript: ENSMUST00000102300
|
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: ENSMUST00000139419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153129
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139206
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174324
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126315
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146844
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119084
|
SMART Domains |
Protein: ENSMUSP00000112912 Gene: ENSMUSG00000028047
Domain | Start | End | E-Value | Type |
TSPN
|
21 |
193 |
4.71e-56 |
SMART |
Pfam:COMP
|
226 |
270 |
8.2e-26 |
PFAM |
EGF
|
277 |
315 |
8.19e-2 |
SMART |
EGF_CA
|
316 |
369 |
6.91e-9 |
SMART |
EGF_CA
|
370 |
413 |
1.38e-8 |
SMART |
Pfam:TSP_3
|
455 |
490 |
4.4e-13 |
PFAM |
Pfam:TSP_3
|
514 |
549 |
9.3e-17 |
PFAM |
Pfam:TSP_3
|
549 |
572 |
2.8e-7 |
PFAM |
Pfam:TSP_3
|
573 |
610 |
1.1e-14 |
PFAM |
Pfam:TSP_3
|
611 |
650 |
1e-10 |
PFAM |
Pfam:TSP_3
|
651 |
686 |
1.8e-15 |
PFAM |
Pfam:TSP_C
|
704 |
904 |
7.9e-108 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174126
|
SMART Domains |
Protein: ENSMUSP00000133291 Gene: ENSMUSG00000064068
Domain | Start | End | E-Value | Type |
Pfam:Tom37_C
|
1 |
74 |
7.6e-23 |
PFAM |
Pfam:GST_C_3
|
7 |
143 |
7.3e-12 |
PFAM |
Pfam:GST_C_2
|
26 |
137 |
2.8e-9 |
PFAM |
Pfam:Tom37_C
|
61 |
129 |
6.2e-15 |
PFAM |
low complexity region
|
159 |
169 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136881
|
SMART Domains |
Protein: ENSMUSP00000120337 Gene: ENSMUSG00000028047
Domain | Start | End | E-Value | Type |
Pfam:TSP_3
|
1 |
31 |
5.8e-14 |
PFAM |
|
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 |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
G |
A |
11: 110,165,170 (GRCm39) |
Q1581* |
probably null |
Het |
Abcc10 |
A |
T |
17: 46,635,085 (GRCm39) |
|
probably null |
Het |
Adam25 |
A |
G |
8: 41,208,423 (GRCm39) |
Y563C |
probably damaging |
Het |
Cnr2 |
T |
A |
4: 135,644,522 (GRCm39) |
I200N |
possibly damaging |
Het |
Col5a2 |
T |
C |
1: 45,422,747 (GRCm39) |
|
probably null |
Het |
Cpa2 |
T |
C |
6: 30,557,666 (GRCm39) |
|
probably benign |
Het |
Dis3l2 |
T |
C |
1: 86,917,953 (GRCm39) |
V534A |
probably damaging |
Het |
Dlg2 |
A |
T |
7: 92,093,746 (GRCm39) |
D845V |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,925,487 (GRCm39) |
|
probably null |
Het |
Ephb4 |
T |
A |
5: 137,352,763 (GRCm39) |
Y115* |
probably null |
Het |
Evc2 |
A |
G |
5: 37,535,681 (GRCm39) |
Y452C |
probably damaging |
Het |
Fbn1 |
A |
G |
2: 125,163,530 (GRCm39) |
|
probably benign |
Het |
Gm5134 |
A |
T |
10: 75,844,334 (GRCm39) |
|
probably null |
Het |
Gpr157 |
A |
G |
4: 150,186,184 (GRCm39) |
T249A |
possibly damaging |
Het |
Hoxc6 |
A |
G |
15: 102,918,308 (GRCm39) |
T91A |
probably benign |
Het |
Lin9 |
C |
A |
1: 180,516,865 (GRCm39) |
A535E |
probably damaging |
Het |
Mup3 |
A |
G |
4: 62,003,016 (GRCm39) |
I170T |
probably damaging |
Het |
Myo1e |
T |
C |
9: 70,291,081 (GRCm39) |
|
probably benign |
Het |
Or3a1d |
A |
G |
11: 74,238,254 (GRCm39) |
V52A |
possibly damaging |
Het |
Or8b50 |
A |
G |
9: 38,518,538 (GRCm39) |
Y259C |
probably damaging |
Het |
Pde4d |
T |
C |
13: 109,877,084 (GRCm39) |
S202P |
probably damaging |
Het |
Pomt2 |
A |
G |
12: 87,158,185 (GRCm39) |
V676A |
probably benign |
Het |
Rasl10a |
C |
A |
11: 5,008,333 (GRCm39) |
L10M |
probably damaging |
Het |
Rilp |
T |
C |
11: 75,403,538 (GRCm39) |
Y327H |
probably damaging |
Het |
Sec23ip |
A |
G |
7: 128,380,903 (GRCm39) |
S957G |
probably damaging |
Het |
Srbd1 |
T |
C |
17: 86,406,050 (GRCm39) |
|
probably null |
Het |
Thsd7a |
T |
C |
6: 12,555,257 (GRCm39) |
H209R |
probably benign |
Het |
Trav14-3 |
T |
C |
14: 54,000,643 (GRCm39) |
|
probably benign |
Het |
Vipr2 |
A |
G |
12: 116,058,356 (GRCm39) |
N91S |
probably damaging |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
IGL03160:Muc1
|
APN |
3 |
89,140,331 (GRCm39) |
missense |
possibly damaging |
0.89 |
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 |
2015-04-16 |