Incidental Mutation 'R5858:Muc15'
| ID |
454991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Muc15
|
| Ensembl Gene |
ENSMUSG00000050808 |
| Gene Name |
mucin 15 |
| Synonyms |
D730046L02Rik |
| MMRRC Submission |
044070-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R5858 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
110551839-110569882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110562143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 193
(D193G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090332]
[ENSMUST00000099623]
[ENSMUST00000111016]
[ENSMUST00000111017]
[ENSMUST00000140777]
|
| AlphaFold |
Q8C6Z1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090332
AA Change: D193G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000087805
Gene: ENSMUSG00000050808
AA Change: D193G
| 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 damaging
Transcript: ENSMUST00000111016
AA Change: D193G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106645
Gene: ENSMUSG00000050808
AA Change: D193G
| 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 damaging
Transcript: ENSMUST00000111017
AA Change: D193G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106646
Gene: ENSMUSG00000050808
AA Change: D193G
| 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 |
noncoding transcript
Transcript: ENSMUST00000111019
|
| SMART Domains |
Protein: ENSMUSP00000106648
Gene: ENSMUSG00000074968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
384 |
627 |
6.3e-60 |
PFAM |
|
| 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 |
|
| Meta Mutation Damage Score |
0.1992 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
T |
A |
1: 138,781,343 (GRCm39) |
Q102L |
probably benign |
Het |
| Ak9 |
G |
A |
10: 41,299,023 (GRCm39) |
V1575I |
unknown |
Het |
| Alg14 |
G |
A |
3: 121,113,737 (GRCm39) |
|
probably benign |
Het |
| Arl5a |
T |
C |
2: 52,302,118 (GRCm39) |
I99V |
probably benign |
Het |
| Cacul1 |
T |
C |
19: 60,517,482 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
C |
T |
5: 43,873,117 (GRCm39) |
R934C |
probably damaging |
Het |
| Ccr2 |
A |
G |
9: 123,906,464 (GRCm39) |
E248G |
probably benign |
Het |
| Cds2 |
G |
T |
2: 132,144,033 (GRCm39) |
V287L |
probably benign |
Het |
| Cflar |
T |
C |
1: 58,793,010 (GRCm39) |
S459P |
probably benign |
Het |
| Clcc1 |
A |
G |
3: 108,568,744 (GRCm39) |
D21G |
probably damaging |
Het |
| Col8a2 |
C |
T |
4: 126,205,093 (GRCm39) |
|
probably benign |
Het |
| Cops7a |
A |
T |
6: 124,937,134 (GRCm39) |
S186T |
possibly damaging |
Het |
| Dagla |
C |
T |
19: 10,232,332 (GRCm39) |
|
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,667,292 (GRCm39) |
Y49C |
possibly damaging |
Het |
| Dnase1 |
T |
C |
16: 3,857,513 (GRCm39) |
|
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,866,204 (GRCm39) |
V633A |
probably benign |
Het |
| E4f1 |
A |
G |
17: 24,664,302 (GRCm39) |
F461L |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 77,991,514 (GRCm39) |
C70* |
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,399,756 (GRCm39) |
H589R |
probably benign |
Het |
| Fam184b |
A |
T |
5: 45,796,461 (GRCm39) |
C41S |
probably damaging |
Het |
| Hace1 |
A |
G |
10: 45,587,621 (GRCm39) |
T907A |
possibly damaging |
Het |
| Il31 |
T |
A |
5: 123,618,637 (GRCm39) |
T129S |
probably benign |
Het |
| Il6 |
A |
T |
5: 30,218,472 (GRCm39) |
T23S |
possibly damaging |
Het |
| Kif12 |
T |
C |
4: 63,084,647 (GRCm39) |
E557G |
probably benign |
Het |
| Krt24 |
A |
T |
11: 99,175,591 (GRCm39) |
L148H |
probably damaging |
Het |
| Mapk8ip1 |
A |
G |
2: 92,215,317 (GRCm39) |
F635S |
probably damaging |
Het |
| Mcc |
A |
T |
18: 44,643,208 (GRCm39) |
V313E |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,860,455 (GRCm39) |
|
probably null |
Het |
| Or12e10 |
A |
T |
2: 87,640,985 (GRCm39) |
I274F |
probably benign |
Het |
| Or2ag1 |
T |
A |
7: 106,472,975 (GRCm39) |
Y159F |
probably benign |
Het |
| Or2m13 |
A |
G |
16: 19,225,975 (GRCm39) |
S265P |
possibly damaging |
Het |
| Or5b94 |
A |
G |
19: 12,651,743 (GRCm39) |
Y58C |
probably damaging |
Het |
| P4ha1 |
A |
T |
10: 59,175,200 (GRCm39) |
L53F |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,109,279 (GRCm39) |
D768G |
probably damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,442,675 (GRCm39) |
D208V |
probably damaging |
Het |
| Ptk2 |
A |
T |
15: 73,192,944 (GRCm39) |
I159K |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,601,964 (GRCm39) |
N761S |
probably benign |
Het |
| Rpp25l |
A |
T |
4: 41,712,678 (GRCm39) |
D32E |
probably benign |
Het |
| Rxrg |
A |
T |
1: 167,454,925 (GRCm39) |
K169N |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,575,460 (GRCm39) |
D4846G |
probably damaging |
Het |
| Sec23a |
A |
G |
12: 59,019,821 (GRCm39) |
F553S |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,201,182 (GRCm39) |
I2482V |
probably benign |
Het |
| Ston1 |
A |
G |
17: 88,943,059 (GRCm39) |
D155G |
possibly damaging |
Het |
| Tha1 |
A |
G |
11: 117,764,210 (GRCm39) |
F6L |
unknown |
Het |
| Trank1 |
T |
A |
9: 111,221,604 (GRCm39) |
D2780E |
probably benign |
Het |
| Ubqln5 |
T |
C |
7: 103,778,018 (GRCm39) |
T269A |
probably benign |
Het |
| Vars1 |
C |
T |
17: 35,224,451 (GRCm39) |
R324C |
probably benign |
Het |
| Zfp287 |
T |
A |
11: 62,604,833 (GRCm39) |
Q691H |
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 |
|
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 |
|
|
R8545:Muc15
|
UTSW |
2 |
110,561,581 (GRCm39) |
nonsense |
probably null |
|
|
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'- AAATCCTTTACAGGTCTCCGAAC -3'
(R):5'- CCCCAGAATGCCACTCTTTG -3'
Sequencing Primer
(F):5'- AGGTCTCCGAACATTCCAATTC -3'
(R):5'- GAGATTCCTCTCTAGCCTT -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation