Incidental Mutation 'R5967:Muc17'
ID |
470660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Muc17
|
Ensembl Gene |
ENSMUSG00000037390 |
Gene Name |
mucin 17, cell surface associated |
Synonyms |
Muc3 |
MMRRC Submission |
043248-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R5967 (G1)
|
Quality Score |
219 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
137163772-137202809 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 137175485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 62
(I62L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041226]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041226
AA Change: I62L
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000045196 Gene: ENSMUSG00000037390 AA Change: I62L
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
62 |
N/A |
INTRINSIC |
EGF_like
|
85 |
118 |
3.64e1 |
SMART |
SEA
|
128 |
241 |
3.05e-32 |
SMART |
EGF_like
|
290 |
331 |
3.72e1 |
SMART |
transmembrane domain
|
340 |
362 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
T |
A |
3: 116,587,357 (GRCm39) |
D66V |
probably benign |
Het |
Agrn |
G |
A |
4: 156,259,560 (GRCm39) |
P792S |
probably damaging |
Het |
Angptl2 |
A |
G |
2: 33,118,718 (GRCm39) |
N164S |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,967,434 (GRCm39) |
F4112L |
probably damaging |
Het |
C8b |
A |
G |
4: 104,650,530 (GRCm39) |
E446G |
possibly damaging |
Het |
Ceacam1 |
C |
T |
7: 25,174,167 (GRCm39) |
V163I |
probably damaging |
Het |
Cngb1 |
T |
C |
8: 95,978,534 (GRCm39) |
K1068R |
probably damaging |
Het |
Gna11 |
A |
G |
10: 81,366,643 (GRCm39) |
Y356H |
probably benign |
Het |
Gnl2 |
A |
G |
4: 124,934,823 (GRCm39) |
M160V |
probably benign |
Het |
Gpsm1 |
A |
G |
2: 26,230,546 (GRCm39) |
|
probably null |
Het |
Grep1 |
C |
A |
17: 23,931,332 (GRCm39) |
G192W |
probably damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Kif20a |
G |
T |
18: 34,763,580 (GRCm39) |
R609L |
probably benign |
Het |
Meis2 |
G |
A |
2: 115,694,790 (GRCm39) |
T444I |
probably benign |
Het |
Myorg |
G |
A |
4: 41,497,830 (GRCm39) |
A600V |
probably benign |
Het |
Ncor2 |
C |
T |
5: 125,146,048 (GRCm39) |
D526N |
unknown |
Het |
Nodal |
G |
T |
10: 61,259,446 (GRCm39) |
E294D |
probably damaging |
Het |
Nup214 |
T |
C |
2: 31,869,790 (GRCm39) |
V161A |
possibly damaging |
Het |
Or10a48 |
C |
T |
7: 108,424,921 (GRCm39) |
G95D |
probably benign |
Het |
Or5k1b |
G |
T |
16: 58,580,725 (GRCm39) |
D271E |
probably damaging |
Het |
Or5m11b |
G |
A |
2: 85,806,535 (GRCm39) |
R316H |
probably benign |
Het |
Pclo |
A |
T |
5: 14,590,669 (GRCm39) |
T990S |
unknown |
Het |
Piwil2 |
A |
T |
14: 70,628,013 (GRCm39) |
M752K |
probably benign |
Het |
Ppargc1b |
A |
G |
18: 61,431,837 (GRCm39) |
S1004P |
probably damaging |
Het |
Prkd1 |
A |
T |
12: 50,411,333 (GRCm39) |
M805K |
probably damaging |
Het |
Rad23a |
T |
C |
8: 85,565,568 (GRCm39) |
E30G |
probably damaging |
Het |
Ralbp1 |
A |
G |
17: 66,171,274 (GRCm39) |
V233A |
probably benign |
Het |
Scin |
C |
T |
12: 40,127,537 (GRCm39) |
E418K |
probably benign |
Het |
Scn7a |
T |
A |
2: 66,506,057 (GRCm39) |
I1611F |
probably damaging |
Het |
Slit2 |
A |
T |
5: 48,142,506 (GRCm39) |
H42L |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,537,375 (GRCm39) |
V4259D |
probably damaging |
Het |
Trhde |
T |
A |
10: 114,403,039 (GRCm39) |
Y528F |
probably damaging |
Het |
Txlnb |
A |
G |
10: 17,675,168 (GRCm39) |
E107G |
probably damaging |
Het |
Zfp715 |
T |
C |
7: 42,948,572 (GRCm39) |
T463A |
probably benign |
Het |
|
Other mutations in Muc17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00503:Muc17
|
APN |
5 |
137,165,971 (GRCm39) |
nonsense |
probably null |
|
R0256:Muc17
|
UTSW |
5 |
137,175,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R0884:Muc17
|
UTSW |
5 |
137,171,146 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1368:Muc17
|
UTSW |
5 |
137,175,674 (GRCm39) |
splice site |
probably benign |
|
R1456:Muc17
|
UTSW |
5 |
137,166,799 (GRCm39) |
missense |
probably benign |
0.01 |
R1670:Muc17
|
UTSW |
5 |
137,172,843 (GRCm39) |
missense |
probably benign |
0.22 |
R2401:Muc17
|
UTSW |
5 |
137,190,980 (GRCm39) |
unclassified |
probably benign |
|
R2698:Muc17
|
UTSW |
5 |
137,175,484 (GRCm39) |
missense |
probably damaging |
0.99 |
R4637:Muc17
|
UTSW |
5 |
137,175,502 (GRCm39) |
missense |
probably damaging |
0.98 |
R5128:Muc17
|
UTSW |
5 |
137,167,034 (GRCm39) |
critical splice donor site |
probably null |
|
R5323:Muc17
|
UTSW |
5 |
137,175,537 (GRCm39) |
nonsense |
probably null |
|
R5601:Muc17
|
UTSW |
5 |
137,166,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R6480:Muc17
|
UTSW |
5 |
137,171,238 (GRCm39) |
missense |
|
|
R7777:Muc17
|
UTSW |
5 |
137,175,564 (GRCm39) |
synonymous |
silent |
|
R7868:Muc17
|
UTSW |
5 |
137,175,625 (GRCm39) |
missense |
|
|
R7974:Muc17
|
UTSW |
5 |
137,175,664 (GRCm39) |
missense |
|
|
R8393:Muc17
|
UTSW |
5 |
137,171,179 (GRCm39) |
missense |
|
|
R8415:Muc17
|
UTSW |
5 |
137,172,798 (GRCm39) |
missense |
|
|
R8419:Muc17
|
UTSW |
5 |
137,175,570 (GRCm39) |
missense |
|
|
R9105:Muc17
|
UTSW |
5 |
137,171,238 (GRCm39) |
missense |
|
|
R9742:Muc17
|
UTSW |
5 |
137,167,127 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- GTACTTACACGCACATGCAC -3'
(R):5'- GTGTGTACCAAATCTCTGCTTTG -3'
Sequencing Primer
(F):5'- GTACTTACACGCACATGCACATACAC -3'
(R):5'- TTGCAGTGAATTGTATGAACGGAG -3'
|
Posted On |
2017-03-31 |