Incidental Mutation 'R8714:Muc1'
| ID |
669750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Muc1
|
| Ensembl Gene |
ENSMUSG00000042784 |
| Gene Name |
mucin 1, transmembrane |
| Synonyms |
Muc-1, EMA, CD227 |
| MMRRC Submission |
068568-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.340)
|
| Stock # |
R8714 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89136364-89140688 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89138821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 477
(V477M)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000041142
AA Change: V477M
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000041963
Gene: ENSMUSG00000042784
AA Change: V477M
| 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: 98.7%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
T |
4: 103,100,093 (GRCm39) |
A137T |
probably benign |
Het |
| 4930474N05Rik |
T |
A |
14: 35,818,456 (GRCm39) |
C151* |
probably null |
Het |
| Abca4 |
A |
G |
3: 121,942,528 (GRCm39) |
T1674A |
probably benign |
Het |
| Acat3 |
A |
T |
17: 13,147,516 (GRCm39) |
V167E |
probably benign |
Het |
| Alb |
T |
C |
5: 90,608,874 (GRCm39) |
|
probably null |
Het |
| Apol9a |
T |
C |
15: 77,288,942 (GRCm39) |
T142A |
probably benign |
Het |
| Asb14 |
C |
T |
14: 26,623,032 (GRCm39) |
P135S |
possibly damaging |
Het |
| Asb17 |
A |
G |
3: 153,556,313 (GRCm39) |
Y140C |
probably damaging |
Het |
| Atp4a |
T |
A |
7: 30,420,013 (GRCm39) |
I750N |
probably damaging |
Het |
| Bard1 |
T |
C |
1: 71,069,986 (GRCm39) |
Y664C |
probably damaging |
Het |
| Cacnb3 |
G |
A |
15: 98,530,262 (GRCm39) |
|
probably benign |
Het |
| Card11 |
T |
A |
5: 140,899,147 (GRCm39) |
D9V |
possibly damaging |
Het |
| Casp8 |
A |
T |
1: 58,872,812 (GRCm39) |
Q229H |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cd209d |
CAT |
C |
8: 3,923,772 (GRCm39) |
|
probably null |
Het |
| Cep350 |
T |
C |
1: 155,736,477 (GRCm39) |
D2853G |
probably damaging |
Het |
| Cfap161 |
T |
C |
7: 83,442,482 (GRCm39) |
I110M |
probably benign |
Het |
| Chid1 |
T |
A |
7: 141,093,678 (GRCm39) |
K313* |
probably null |
Het |
| Col16a1 |
T |
A |
4: 129,947,961 (GRCm39) |
I227N |
unknown |
Het |
| D3Ertd751e |
G |
T |
3: 41,700,998 (GRCm39) |
E6* |
probably null |
Het |
| Ddx41 |
T |
C |
13: 55,682,250 (GRCm39) |
Q208R |
probably damaging |
Het |
| Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
| Dmrta1 |
A |
T |
4: 89,579,682 (GRCm39) |
Q214L |
probably benign |
Het |
| Eif2ak4 |
T |
C |
2: 118,292,765 (GRCm39) |
F1330L |
possibly damaging |
Het |
| Fbxw13 |
C |
T |
9: 109,023,832 (GRCm39) |
V71I |
probably benign |
Het |
| H2-Q2 |
T |
C |
17: 35,562,338 (GRCm39) |
L195P |
possibly damaging |
Het |
| Hemgn |
C |
T |
4: 46,395,904 (GRCm39) |
G444D |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,112,876 (GRCm39) |
T1199A |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,164,829 (GRCm39) |
D783G |
probably damaging |
Het |
| Micall1 |
G |
A |
15: 79,011,510 (GRCm39) |
A627T |
probably benign |
Het |
| Morc2a |
C |
T |
11: 3,625,877 (GRCm39) |
T159I |
probably benign |
Het |
| Mthfr |
C |
A |
4: 148,126,275 (GRCm39) |
N115K |
probably damaging |
Het |
| Mug1 |
C |
T |
6: 121,859,681 (GRCm39) |
P1227S |
probably benign |
Het |
| Ogfod3 |
T |
A |
11: 121,087,608 (GRCm39) |
D163V |
possibly damaging |
Het |
| Or51a43 |
T |
A |
7: 103,717,483 (GRCm39) |
I252F |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,500,546 (GRCm39) |
V1515I |
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plscr3 |
G |
T |
11: 69,738,838 (GRCm39) |
G167C |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,140,379 (GRCm39) |
K1670* |
probably null |
Het |
| Prb1c |
G |
A |
6: 132,341,051 (GRCm39) |
T7I |
unknown |
Het |
| Rab7 |
T |
C |
6: 87,989,369 (GRCm39) |
S34G |
probably damaging |
Het |
| Rnf157 |
C |
A |
11: 116,237,891 (GRCm39) |
A577S |
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,359,720 (GRCm39) |
S4371L |
|
Het |
| S1pr1 |
A |
T |
3: 115,505,470 (GRCm39) |
S375T |
probably benign |
Het |
| Spen |
T |
C |
4: 141,215,314 (GRCm39) |
N506S |
unknown |
Het |
| Sulf1 |
T |
A |
1: 12,878,141 (GRCm39) |
Y210N |
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tg |
A |
G |
15: 66,555,891 (GRCm39) |
N861S |
probably damaging |
Het |
| Ttc29 |
A |
G |
8: 79,060,331 (GRCm39) |
E417G |
possibly damaging |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Ubxn7 |
T |
A |
16: 32,186,229 (GRCm39) |
|
probably benign |
Het |
| Vmn1r62 |
C |
A |
7: 5,678,629 (GRCm39) |
Y103* |
probably null |
Het |
| Zfp804b |
A |
T |
5: 6,822,378 (GRCm39) |
Y228* |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTTCACATCACTCCTGAG -3'
(R):5'- CAGGTGGTAAAGCCCCATAG -3'
Sequencing Primer
(F):5'- CCAGTTTCTGCAGATTTTTAACGGAG -3'
(R):5'- CCATAGTATGGTGCCAGGCTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation