Incidental Mutation 'R8851:Muc1'
| ID |
674988 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8851 (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 A
at 89138425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 422
(F422L)
|
| 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: F422L
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000041963
Gene: ENSMUSG00000042784
AA Change: F422L
| 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: 99.7%
- 20x: 98.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
T |
A |
1: 173,159,683 (GRCm39) |
I279F |
probably benign |
Het |
| Adamts7 |
A |
G |
9: 90,075,163 (GRCm39) |
N965S |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,613,119 (GRCm39) |
Y184C |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,691,535 (GRCm39) |
Y1142C |
probably damaging |
Het |
| Apoa4 |
A |
G |
9: 46,153,906 (GRCm39) |
K169R |
probably benign |
Het |
| Cd22 |
T |
A |
7: 30,577,084 (GRCm39) |
K74N |
probably benign |
Het |
| Defa39 |
T |
A |
8: 22,193,555 (GRCm39) |
I22F |
possibly damaging |
Het |
| Dgcr2 |
G |
A |
16: 17,690,507 (GRCm39) |
T41I |
possibly damaging |
Het |
| Dicer1 |
A |
G |
12: 104,690,300 (GRCm39) |
V245A |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,559,398 (GRCm39) |
S715T |
probably benign |
Het |
| Epb41l1 |
A |
T |
2: 156,364,431 (GRCm39) |
H980L |
probably benign |
Het |
| Erc2 |
A |
T |
14: 28,039,216 (GRCm39) |
E973V |
probably null |
Het |
| Fam124b |
T |
A |
1: 80,190,882 (GRCm39) |
Q167L |
probably damaging |
Het |
| Frmpd2 |
A |
G |
14: 33,217,643 (GRCm39) |
E46G |
probably damaging |
Het |
| Gabrb2 |
G |
A |
11: 42,312,186 (GRCm39) |
V4I |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,256,922 (GRCm39) |
N841K |
probably damaging |
Het |
| Gnpat |
A |
G |
8: 125,601,004 (GRCm39) |
H161R |
probably damaging |
Het |
| Gpd2 |
A |
T |
2: 57,197,062 (GRCm39) |
M206L |
possibly damaging |
Het |
| Grid2ip |
T |
C |
5: 143,348,352 (GRCm39) |
F148L |
possibly damaging |
Het |
| Hemk1 |
A |
G |
9: 107,213,412 (GRCm39) |
V128A |
probably benign |
Het |
| Ism1 |
G |
T |
2: 139,591,465 (GRCm39) |
S273I |
probably damaging |
Het |
| Kcnab3 |
G |
T |
11: 69,218,990 (GRCm39) |
|
probably null |
Het |
| Kdm6b |
A |
G |
11: 69,291,993 (GRCm39) |
Y1430H |
unknown |
Het |
| Lama2 |
A |
G |
10: 27,242,119 (GRCm39) |
V279A |
possibly damaging |
Het |
| Lmf1 |
G |
A |
17: 25,804,680 (GRCm39) |
W119* |
probably null |
Het |
| Lrrc42 |
A |
G |
4: 107,096,375 (GRCm39) |
V276A |
probably benign |
Het |
| Magi2 |
T |
C |
5: 20,270,618 (GRCm39) |
F163L |
probably damaging |
Het |
| Map2k2 |
A |
G |
10: 80,955,097 (GRCm39) |
K196R |
probably damaging |
Het |
| Mfsd11 |
C |
A |
11: 116,752,479 (GRCm39) |
D209E |
probably benign |
Het |
| Muc13 |
A |
G |
16: 33,631,273 (GRCm39) |
H391R |
probably benign |
Het |
| Mxi1 |
G |
A |
19: 53,360,126 (GRCm39) |
G283S |
probably damaging |
Het |
| Nfatc2ip |
T |
C |
7: 125,986,617 (GRCm39) |
Q346R |
probably damaging |
Het |
| Or8g2b |
A |
G |
9: 39,751,600 (GRCm39) |
Y290C |
probably damaging |
Het |
| Otol1 |
T |
A |
3: 69,935,299 (GRCm39) |
D430E |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,325,155 (GRCm39) |
E929G |
probably damaging |
Het |
| Pip4p2 |
T |
C |
4: 14,912,491 (GRCm39) |
M200T |
possibly damaging |
Het |
| Plekhf1 |
C |
T |
7: 37,921,466 (GRCm39) |
R34H |
probably damaging |
Het |
| Plekhm2 |
A |
T |
4: 141,358,639 (GRCm39) |
V622E |
probably benign |
Het |
| Pomt2 |
G |
A |
12: 87,184,838 (GRCm39) |
T196I |
probably damaging |
Het |
| Ppp1r12c |
C |
T |
7: 4,487,703 (GRCm39) |
G436D |
probably damaging |
Het |
| Prss50 |
A |
G |
9: 110,687,081 (GRCm39) |
|
probably benign |
Het |
| Slc29a1 |
A |
G |
17: 45,900,402 (GRCm39) |
I176T |
probably damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,755,790 (GRCm39) |
V36E |
probably damaging |
Het |
| Slc7a1 |
A |
C |
5: 148,285,093 (GRCm39) |
S133R |
probably damaging |
Het |
| Sox17 |
A |
G |
1: 4,562,073 (GRCm39) |
Y376H |
probably benign |
Het |
| Spata4 |
T |
C |
8: 55,062,935 (GRCm39) |
I280T |
probably benign |
Het |
| Svop |
T |
A |
5: 114,192,557 (GRCm39) |
I187F |
probably damaging |
Het |
| Tas2r103 |
T |
A |
6: 133,013,896 (GRCm39) |
I57F |
|
Het |
| Tead3 |
A |
G |
17: 28,551,704 (GRCm39) |
V463A |
probably damaging |
Het |
| Tenm4 |
G |
C |
7: 96,501,710 (GRCm39) |
G1305R |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,900,677 (GRCm39) |
F594L |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,334,573 (GRCm39) |
T419A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,629,237 (GRCm39) |
E12621G |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,593,090 (GRCm39) |
I254V |
probably benign |
Het |
| Vmn2r58 |
T |
C |
7: 41,487,219 (GRCm39) |
M559V |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,643,437 (GRCm39) |
H358Q |
probably null |
Het |
| Zcwpw1 |
A |
C |
5: 137,820,626 (GRCm39) |
D597A |
probably damaging |
Het |
| Zfp318 |
A |
T |
17: 46,710,761 (GRCm39) |
Y828F |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,032,194 (GRCm39) |
N582I |
possibly 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 |
|
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 |
|
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'- ACCAGTTCTGTGTTGGGCTC -3'
(R):5'- AGTGATGTGAAAGCCATGCAGTC -3'
Sequencing Primer
(F):5'- TTGGGCTCAGCTACCAGTCTAG -3'
(R):5'- ATGCAGTCCTGAAGAGCTACGTC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation