Incidental Mutation 'R8545:Muc15'
ID |
659574 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Muc15
|
Ensembl Gene |
ENSMUSG00000050808 |
Gene Name |
mucin 15 |
Synonyms |
D730046L02Rik |
MMRRC Submission |
068510-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R8545 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
110551839-110569882 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 110561581 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 6
(K6*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106646
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090332]
[ENSMUST00000099623]
[ENSMUST00000111016]
[ENSMUST00000111017]
[ENSMUST00000140777]
|
AlphaFold |
Q8C6Z1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000090332
AA Change: K6*
|
SMART Domains |
Protein: ENSMUSP00000087805 Gene: ENSMUSG00000050808 AA Change: K6*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Mucin15
|
21 |
331 |
2.3e-155 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099623
|
SMART Domains |
Protein: ENSMUSP00000097219 Gene: ENSMUSG00000074968
Domain | Start | End | E-Value | Type |
Pfam:Anoct_dimer
|
156 |
381 |
2.9e-70 |
PFAM |
Pfam:Anoctamin
|
384 |
950 |
4.4e-138 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111016
AA Change: K6*
|
SMART Domains |
Protein: ENSMUSP00000106645 Gene: ENSMUSG00000050808 AA Change: K6*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
low complexity region
|
93 |
108 |
N/A |
INTRINSIC |
low complexity region
|
163 |
181 |
N/A |
INTRINSIC |
transmembrane domain
|
235 |
257 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111017
AA Change: K6*
|
SMART Domains |
Protein: ENSMUSP00000106646 Gene: ENSMUSG00000050808 AA Change: K6*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
low complexity region
|
93 |
108 |
N/A |
INTRINSIC |
low complexity region
|
163 |
181 |
N/A |
INTRINSIC |
transmembrane domain
|
235 |
257 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140777
|
SMART Domains |
Protein: ENSMUSP00000122387 Gene: ENSMUSG00000074968
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
40 |
141 |
5.7e-24 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
G |
11: 84,236,794 (GRCm39) |
Y1779C |
probably damaging |
Het |
Apc |
A |
G |
18: 34,450,084 (GRCm39) |
N2293D |
possibly damaging |
Het |
Arhgap30 |
T |
C |
1: 171,234,998 (GRCm39) |
L488P |
probably damaging |
Het |
Arhgap31 |
T |
A |
16: 38,423,408 (GRCm39) |
Q886L |
probably damaging |
Het |
Arhgef10 |
T |
G |
8: 14,978,868 (GRCm39) |
V45G |
probably benign |
Het |
Arhgef10 |
A |
G |
8: 15,025,931 (GRCm39) |
T812A |
possibly damaging |
Het |
Bbs2 |
T |
C |
8: 94,813,352 (GRCm39) |
S246G |
probably benign |
Het |
Cby3 |
T |
C |
11: 50,250,243 (GRCm39) |
S150P |
probably benign |
Het |
Cdc40 |
A |
G |
10: 40,723,939 (GRCm39) |
V283A |
probably benign |
Het |
Cox15 |
A |
T |
19: 43,728,421 (GRCm39) |
V284E |
probably damaging |
Het |
Cyp4a12b |
A |
T |
4: 115,290,227 (GRCm39) |
H260L |
probably benign |
Het |
Dph6 |
G |
A |
2: 114,478,248 (GRCm39) |
A31V |
probably damaging |
Het |
Dsc2 |
G |
A |
18: 20,167,722 (GRCm39) |
Q123* |
probably null |
Het |
Eftud2 |
A |
G |
11: 102,731,097 (GRCm39) |
F810S |
probably damaging |
Het |
Erich3 |
A |
T |
3: 154,467,996 (GRCm39) |
|
probably benign |
Het |
Gm49368 |
T |
C |
7: 127,679,433 (GRCm39) |
Y192H |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,279,257 (GRCm39) |
L55* |
probably null |
Het |
Hgsnat |
T |
C |
8: 26,445,707 (GRCm39) |
T396A |
probably benign |
Het |
Il17rd |
T |
G |
14: 26,813,886 (GRCm39) |
F55C |
probably damaging |
Het |
Mad1l1 |
A |
C |
5: 140,286,249 (GRCm39) |
M250R |
probably benign |
Het |
Muc2 |
A |
G |
7: 141,306,130 (GRCm39) |
N273S |
unknown |
Het |
Myh1 |
T |
A |
11: 67,093,027 (GRCm39) |
Y78N |
probably benign |
Het |
Pcdh20 |
T |
A |
14: 88,706,601 (GRCm39) |
H233L |
probably damaging |
Het |
Pcnx4 |
G |
A |
12: 72,602,856 (GRCm39) |
A373T |
probably benign |
Het |
Phf3 |
A |
T |
1: 30,863,391 (GRCm39) |
M778K |
possibly damaging |
Het |
Pigg |
A |
T |
5: 108,489,726 (GRCm39) |
D644V |
probably damaging |
Het |
Rnf148 |
A |
T |
6: 23,654,570 (GRCm39) |
I142N |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,704,239 (GRCm39) |
|
probably benign |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Tapbp |
A |
G |
17: 34,139,291 (GRCm39) |
M87V |
possibly damaging |
Het |
Tbccd1 |
T |
C |
16: 22,652,779 (GRCm39) |
Y114C |
probably benign |
Het |
Tet1 |
A |
T |
10: 62,648,718 (GRCm39) |
W1905R |
probably damaging |
Het |
Tmem109 |
G |
A |
19: 10,851,734 (GRCm39) |
R37* |
probably null |
Het |
Wdfy4 |
T |
C |
14: 32,800,258 (GRCm39) |
Y1802C |
probably benign |
Het |
Zbtb17 |
CCCCCACCTCCACAGACCCCA |
CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA |
4: 141,194,139 (GRCm39) |
|
probably benign |
Het |
Zcchc4 |
G |
A |
5: 52,976,741 (GRCm39) |
|
probably benign |
Het |
Zfp646 |
T |
C |
7: 127,484,662 (GRCm39) |
S1772P |
probably benign |
Het |
Zfp820 |
A |
G |
17: 22,038,438 (GRCm39) |
C297R |
probably damaging |
Het |
|
Other mutations in Muc15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01978:Muc15
|
APN |
2 |
110,561,941 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02547:Muc15
|
APN |
2 |
110,561,650 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02751:Muc15
|
APN |
2 |
110,562,118 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03100:Muc15
|
APN |
2 |
110,561,939 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03188:Muc15
|
APN |
2 |
110,562,044 (GRCm39) |
missense |
probably benign |
0.14 |
R0684:Muc15
|
UTSW |
2 |
110,564,160 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1472:Muc15
|
UTSW |
2 |
110,561,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R1582:Muc15
|
UTSW |
2 |
110,567,817 (GRCm39) |
missense |
probably benign |
0.16 |
R1661:Muc15
|
UTSW |
2 |
110,564,243 (GRCm39) |
nonsense |
probably null |
|
R1665:Muc15
|
UTSW |
2 |
110,564,243 (GRCm39) |
nonsense |
probably null |
|
R1725:Muc15
|
UTSW |
2 |
110,561,591 (GRCm39) |
missense |
probably damaging |
0.96 |
R1815:Muc15
|
UTSW |
2 |
110,561,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R1892:Muc15
|
UTSW |
2 |
110,567,697 (GRCm39) |
nonsense |
probably null |
|
R2022:Muc15
|
UTSW |
2 |
110,561,821 (GRCm39) |
missense |
probably benign |
0.00 |
R4546:Muc15
|
UTSW |
2 |
110,567,844 (GRCm39) |
missense |
probably damaging |
0.97 |
R4953:Muc15
|
UTSW |
2 |
110,561,617 (GRCm39) |
missense |
probably damaging |
0.99 |
R4984:Muc15
|
UTSW |
2 |
110,561,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R5858:Muc15
|
UTSW |
2 |
110,562,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R6046:Muc15
|
UTSW |
2 |
110,561,786 (GRCm39) |
nonsense |
probably null |
|
R6695:Muc15
|
UTSW |
2 |
110,561,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R7468:Muc15
|
UTSW |
2 |
110,561,862 (GRCm39) |
missense |
probably benign |
0.02 |
R7725:Muc15
|
UTSW |
2 |
110,562,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R8279:Muc15
|
UTSW |
2 |
110,562,052 (GRCm39) |
missense |
probably benign |
|
R8752:Muc15
|
UTSW |
2 |
110,561,758 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8923:Muc15
|
UTSW |
2 |
110,562,212 (GRCm39) |
missense |
probably damaging |
0.99 |
R8937:Muc15
|
UTSW |
2 |
110,562,252 (GRCm39) |
critical splice donor site |
probably null |
|
R9115:Muc15
|
UTSW |
2 |
110,562,089 (GRCm39) |
missense |
probably damaging |
0.99 |
R9535:Muc15
|
UTSW |
2 |
110,562,007 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCACTGGTTTAAATCCACAATC -3'
(R):5'- GGAGTTGTCACCATGAGATTGG -3'
Sequencing Primer
(F):5'- CTGGTTTAAATCCACAATCTACCC -3'
(R):5'- GTCACCATGAGATTGGAGATATCAC -3'
|
Posted On |
2021-01-18 |