Incidental Mutation 'R7725:Muc15'
| ID |
595431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Muc15
|
| Ensembl Gene |
ENSMUSG00000050808 |
| Gene Name |
mucin 15 |
| Synonyms |
D730046L02Rik |
| MMRRC Submission |
045781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R7725 (G1)
|
| Quality Score |
225.009 |
|
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa2 |
A |
T |
9: 69,387,410 (GRCm39) |
K6N |
unknown |
Het |
| Arhgap20 |
T |
A |
9: 51,743,050 (GRCm39) |
M296K |
possibly damaging |
Het |
| Bdh1 |
G |
A |
16: 31,256,910 (GRCm39) |
V20I |
not run |
Het |
| Bop1 |
A |
G |
15: 76,339,583 (GRCm39) |
I254T |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cct4 |
A |
G |
11: 22,940,814 (GRCm39) |
K21E |
probably benign |
Het |
| Cercam |
G |
A |
2: 29,762,574 (GRCm39) |
|
probably null |
Het |
| Clip2 |
A |
T |
5: 134,546,853 (GRCm39) |
Y238* |
probably null |
Het |
| Col19a1 |
A |
T |
1: 24,309,525 (GRCm39) |
S1043T |
possibly damaging |
Het |
| Ctcf |
A |
G |
8: 106,390,468 (GRCm39) |
Y25C |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,704,330 (GRCm39) |
R282C |
probably benign |
Het |
| Eef1g |
T |
A |
19: 8,955,427 (GRCm39) |
H425Q |
probably benign |
Het |
| Fam131b |
C |
T |
6: 42,295,476 (GRCm39) |
A234T |
probably benign |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fam187b |
A |
G |
7: 30,677,139 (GRCm39) |
D216G |
possibly damaging |
Het |
| Gabra1 |
A |
T |
11: 42,026,270 (GRCm39) |
Y341N |
possibly damaging |
Het |
| Glb1l3 |
T |
A |
9: 26,739,659 (GRCm39) |
|
probably null |
Het |
| Gm3667 |
T |
A |
14: 18,271,599 (GRCm39) |
Q52L |
probably damaging |
Het |
| Gpr179 |
C |
T |
11: 97,242,118 (GRCm39) |
R242H |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,245,522 (GRCm39) |
Y24C |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,358,680 (GRCm39) |
E49V |
unknown |
Het |
| Htra4 |
A |
G |
8: 25,527,169 (GRCm39) |
S209P |
possibly damaging |
Het |
| Lmntd1 |
A |
G |
6: 145,489,196 (GRCm39) |
S22P |
probably benign |
Het |
| Lypd8l |
A |
T |
11: 58,499,325 (GRCm39) |
N164K |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,163,413 (GRCm39) |
K1347E |
probably damaging |
Het |
| Mrc1 |
C |
A |
2: 14,284,788 (GRCm39) |
D592E |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,100,630 (GRCm39) |
V1316A |
|
Het |
| Odad1 |
T |
A |
7: 45,597,835 (GRCm39) |
S582T |
probably damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,593 (GRCm39) |
Y193H |
probably damaging |
Het |
| Or2y10 |
A |
T |
11: 49,455,359 (GRCm39) |
I204L |
probably benign |
Het |
| Or5t16 |
T |
C |
2: 86,819,323 (GRCm39) |
I66V |
probably benign |
Het |
| Serpina6 |
A |
T |
12: 103,614,936 (GRCm39) |
Y303* |
probably null |
Het |
| Shld2 |
T |
G |
14: 33,990,661 (GRCm39) |
T82P |
possibly damaging |
Het |
| Shroom3 |
T |
C |
5: 93,089,512 (GRCm39) |
L754P |
probably benign |
Het |
| Skint5 |
C |
A |
4: 113,685,099 (GRCm39) |
L539F |
unknown |
Het |
| St3gal4 |
C |
A |
9: 34,964,375 (GRCm39) |
R209L |
possibly damaging |
Het |
| Tex14 |
A |
C |
11: 87,385,868 (GRCm39) |
T243P |
probably damaging |
Het |
| Ttc12 |
T |
A |
9: 49,351,602 (GRCm39) |
M632L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,738,116 (GRCm39) |
E4187G |
unknown |
Het |
| Txk |
G |
A |
5: 72,864,900 (GRCm39) |
A379V |
probably damaging |
Het |
| Wdr43 |
A |
G |
17: 71,923,338 (GRCm39) |
Y28C |
probably benign |
Het |
| Zfp1005 |
A |
G |
2: 150,110,468 (GRCm39) |
Y386C |
unknown |
Het |
| Zfp40 |
A |
G |
17: 23,397,251 (GRCm39) |
V82A |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,419,091 (GRCm39) |
N619K |
probably benign |
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 |
|
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'- CAAATCCTTTACAGGTCTCCGAAC -3'
(R):5'- CCCCAGAATGCCACTCTTTG -3'
Sequencing Primer
(F):5'- AGGTCTCCGAACATTCCAATTC -3'
(R):5'- GAGATTCCTCTCTAGCCTT -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation