Incidental Mutation 'IGL01549:Muc1'
| ID |
90545 |
| 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 # |
IGL01549
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89136364-89140688 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89139117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 533
(P533S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029682]
[ENSMUST00000041022]
[ENSMUST00000041142]
[ENSMUST00000090924]
[ENSMUST00000107464]
[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 damaging
Transcript: ENSMUST00000041142
AA Change: P533S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041963
Gene: ENSMUSG00000042784
AA Change: P533S
| 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: ENSMUST00000126315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139206
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146844
|
| 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: 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
C |
T |
18: 70,601,106 (GRCm39) |
V259I |
possibly damaging |
Het |
| Abhd4 |
C |
T |
14: 54,504,589 (GRCm39) |
T273I |
probably damaging |
Het |
| Adamtsl3 |
T |
C |
7: 82,261,656 (GRCm39) |
S1691P |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,495,090 (GRCm39) |
S901P |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,768,250 (GRCm39) |
S56F |
probably damaging |
Het |
| Ccdc74a |
A |
G |
16: 17,468,406 (GRCm39) |
S343G |
probably benign |
Het |
| Clec7a |
A |
T |
6: 129,449,640 (GRCm39) |
Y3* |
probably null |
Het |
| Il6 |
A |
G |
5: 30,224,469 (GRCm39) |
T170A |
probably benign |
Het |
| Itgax |
C |
A |
7: 127,730,378 (GRCm39) |
|
probably null |
Het |
| Lrrc17 |
A |
T |
5: 21,775,288 (GRCm39) |
R283S |
probably benign |
Het |
| Or10j5 |
T |
C |
1: 172,784,541 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or13n4 |
T |
C |
7: 106,423,236 (GRCm39) |
I166V |
probably benign |
Het |
| Or4c121 |
C |
T |
2: 89,024,133 (GRCm39) |
V82I |
probably benign |
Het |
| Or4d10c |
T |
A |
19: 12,065,329 (GRCm39) |
I276F |
probably benign |
Het |
| Or8k37 |
A |
C |
2: 86,469,705 (GRCm39) |
S116A |
probably benign |
Het |
| Or8k37 |
T |
C |
2: 86,469,876 (GRCm39) |
M59V |
possibly damaging |
Het |
| Pcnt |
A |
C |
10: 76,203,320 (GRCm39) |
|
probably null |
Het |
| Pde4b |
A |
T |
4: 102,462,265 (GRCm39) |
D647V |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,594,681 (GRCm39) |
M875V |
probably benign |
Het |
| Prkar2b |
T |
C |
12: 32,111,071 (GRCm39) |
E4G |
possibly damaging |
Het |
| Rab2a |
C |
A |
4: 8,582,393 (GRCm39) |
S125Y |
probably benign |
Het |
| Samm50 |
A |
G |
15: 84,086,982 (GRCm39) |
I264V |
probably benign |
Het |
| Sgsh |
C |
T |
11: 119,241,755 (GRCm39) |
A90T |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,433,303 (GRCm39) |
T489A |
probably benign |
Het |
| Wdr38 |
T |
G |
2: 38,890,730 (GRCm39) |
S201R |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,522 (GRCm39) |
D1560G |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,013,181 (GRCm39) |
T568A |
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 |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation