Incidental Mutation 'R9584:Muc1'
ID |
722692 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Muc1
|
Ensembl Gene |
ENSMUSG00000042784 |
Gene Name |
mucin 1, transmembrane |
Synonyms |
Muc-1, EMA, CD227 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.340)
|
Stock # |
R9584 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
89136364-89140688 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 89138373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 405
(T405I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029682]
[ENSMUST00000041022]
[ENSMUST00000041142]
[ENSMUST00000090924]
[ENSMUST00000107464]
[ENSMUST00000119084]
[ENSMUST00000143637]
[ENSMUST00000174126]
|
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: T405I
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000041963 Gene: ENSMUSG00000042784 AA Change: T405I
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 |
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: 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 |
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
T |
G |
13: 70,949,136 (GRCm39) |
D175A |
probably damaging |
Het |
Ankhd1 |
A |
T |
18: 36,798,504 (GRCm39) |
N635Y |
probably benign |
Het |
Asxl2 |
T |
C |
12: 3,550,667 (GRCm39) |
V803A |
possibly damaging |
Het |
Brsk1 |
T |
A |
7: 4,709,662 (GRCm39) |
S430T |
possibly damaging |
Het |
Btbd8 |
A |
T |
5: 107,658,347 (GRCm39) |
H1639L |
probably benign |
Het |
Cacna2d2 |
T |
C |
9: 107,277,404 (GRCm39) |
L46P |
probably damaging |
Het |
Casz1 |
A |
G |
4: 148,985,704 (GRCm39) |
|
probably benign |
Het |
Catsper2 |
A |
T |
2: 121,230,301 (GRCm39) |
N344K |
probably damaging |
Het |
Ccdc80 |
A |
G |
16: 44,915,675 (GRCm39) |
S144G |
probably damaging |
Het |
Cdh10 |
A |
T |
15: 18,992,095 (GRCm39) |
L451F |
probably benign |
Het |
Chil6 |
A |
G |
3: 106,301,672 (GRCm39) |
F143L |
probably damaging |
Het |
Dock7 |
G |
A |
4: 98,861,481 (GRCm39) |
R1379* |
probably null |
Het |
Dop1a |
C |
A |
9: 86,385,151 (GRCm39) |
L366I |
possibly damaging |
Het |
Foxg1 |
G |
A |
12: 49,432,406 (GRCm39) |
V380M |
possibly damaging |
Het |
Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
Hipk3 |
A |
G |
2: 104,301,910 (GRCm39) |
V94A |
probably benign |
Het |
Impg1 |
T |
C |
9: 80,322,849 (GRCm39) |
H52R |
probably benign |
Het |
Kcnv2 |
T |
C |
19: 27,300,265 (GRCm39) |
S39P |
probably damaging |
Het |
Knop1 |
G |
A |
7: 118,447,709 (GRCm39) |
S417L |
unknown |
Het |
Nlrp2 |
C |
A |
7: 5,322,215 (GRCm39) |
D811Y |
probably damaging |
Het |
Nvl |
A |
G |
1: 180,958,431 (GRCm39) |
L206S |
probably benign |
Het |
Or5ac19 |
A |
G |
16: 59,089,580 (GRCm39) |
L150S |
probably benign |
Het |
Or8g17 |
G |
A |
9: 38,930,462 (GRCm39) |
A125V |
probably damaging |
Het |
Orai3 |
G |
T |
7: 127,373,177 (GRCm39) |
R226L |
probably benign |
Het |
Pacs1 |
T |
C |
19: 5,322,622 (GRCm39) |
M99V |
probably benign |
Het |
Pag1 |
A |
G |
3: 9,761,214 (GRCm39) |
S298P |
probably damaging |
Het |
Pde4c |
T |
C |
8: 71,200,728 (GRCm39) |
V419A |
probably benign |
Het |
Pitpna |
C |
A |
11: 75,510,368 (GRCm39) |
N208K |
probably benign |
Het |
Pnpo |
C |
A |
11: 96,831,705 (GRCm39) |
E114* |
probably null |
Het |
Pou5f2 |
A |
G |
13: 78,173,592 (GRCm39) |
E178G |
possibly damaging |
Het |
Psph |
G |
A |
5: 129,847,752 (GRCm39) |
R65C |
probably damaging |
Het |
Sgsh |
T |
C |
11: 119,241,789 (GRCm39) |
S106G |
possibly damaging |
Het |
Synrg |
A |
G |
11: 83,900,200 (GRCm39) |
K724R |
probably damaging |
Het |
Tet1 |
A |
T |
10: 62,655,306 (GRCm39) |
F1538L |
probably damaging |
Het |
Thada |
G |
A |
17: 84,733,605 (GRCm39) |
T1014I |
probably benign |
Het |
Topbp1 |
T |
C |
9: 103,219,242 (GRCm39) |
W1165R |
probably damaging |
Het |
Trrap |
G |
A |
5: 144,777,330 (GRCm39) |
V3043M |
probably damaging |
Het |
Tshz1 |
G |
A |
18: 84,033,089 (GRCm39) |
H440Y |
probably damaging |
Het |
Vwa8 |
A |
G |
14: 79,394,549 (GRCm39) |
D1550G |
probably benign |
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 |
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 |
R9706:Muc1
|
UTSW |
3 |
89,138,888 (GRCm39) |
missense |
probably benign |
0.12 |
X0065:Muc1
|
UTSW |
3 |
89,137,593 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTACCAGTTCTGTGTTGGGC -3'
(R):5'- AGCCATGCAGTCCTGAAGAG -3'
Sequencing Primer
(F):5'- TTGGGCTCAGCTACCAGTCTAG -3'
(R):5'- ATGCAGTCCTGAAGAGCTACGTC -3'
|
Posted On |
2022-08-09 |