Incidental Mutation 'IGL00476:Mucl3'
ID |
3857 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mucl3
|
Ensembl Gene |
ENSMUSG00000073408 |
Gene Name |
mucin like 3 |
Synonyms |
LOC268949, Dpcr1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL00476
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35946647-35954587 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 35948994 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 202
(H202N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093120
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095467]
[ENSMUST00000174521]
|
AlphaFold |
Q3TNW5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095467
AA Change: H202N
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000093120 Gene: ENSMUSG00000073408 AA Change: H202N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
transmembrane domain
|
428 |
450 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174521
|
SMART Domains |
Protein: ENSMUSP00000134221 Gene: ENSMUSG00000090509
Domain | Start | End | E-Value | Type |
Pfam:SFTA2
|
80 |
117 |
9.2e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174534
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,833,035 (GRCm39) |
T47A |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,637,193 (GRCm39) |
F3416S |
probably damaging |
Het |
Arhgap42 |
T |
C |
9: 9,006,344 (GRCm39) |
D684G |
probably damaging |
Het |
Atp13a1 |
T |
C |
8: 70,249,547 (GRCm39) |
L270P |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,744,083 (GRCm39) |
N1474S |
probably benign |
Het |
Chmp1b2 |
A |
C |
X: 106,859,766 (GRCm39) |
|
probably benign |
Het |
Chrna6 |
A |
G |
8: 27,896,560 (GRCm39) |
I439T |
probably damaging |
Het |
Cylc2 |
T |
C |
4: 51,228,157 (GRCm39) |
M76T |
probably damaging |
Het |
Ddx19a |
T |
C |
8: 111,703,102 (GRCm39) |
K445R |
probably benign |
Het |
Dennd4a |
A |
T |
9: 64,819,044 (GRCm39) |
Y1733F |
probably damaging |
Het |
Dop1b |
G |
A |
16: 93,596,914 (GRCm39) |
|
probably benign |
Het |
Ephb3 |
T |
A |
16: 21,039,165 (GRCm39) |
|
probably null |
Het |
Gpc2 |
G |
A |
5: 138,272,571 (GRCm39) |
|
probably benign |
Het |
Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
Ldhd |
G |
T |
8: 112,355,270 (GRCm39) |
R238S |
possibly damaging |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mipep |
T |
G |
14: 61,064,810 (GRCm39) |
L388R |
probably damaging |
Het |
Naa35 |
A |
G |
13: 59,777,869 (GRCm39) |
D610G |
probably damaging |
Het |
Nae1 |
A |
T |
8: 105,253,013 (GRCm39) |
L137Q |
possibly damaging |
Het |
Nt5dc3 |
T |
C |
10: 86,669,838 (GRCm39) |
|
probably null |
Het |
Nyx |
T |
C |
X: 13,353,264 (GRCm39) |
F373L |
possibly damaging |
Het |
Scaf11 |
A |
T |
15: 96,316,461 (GRCm39) |
D1034E |
possibly damaging |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Taar7a |
A |
T |
10: 23,868,294 (GRCm39) |
|
probably benign |
Het |
Tcf23 |
G |
T |
5: 31,130,869 (GRCm39) |
C169F |
probably benign |
Het |
Trim7 |
A |
T |
11: 48,738,905 (GRCm39) |
N308I |
probably benign |
Het |
Ubxn8 |
T |
C |
8: 34,125,333 (GRCm39) |
E89G |
probably benign |
Het |
|
Other mutations in Mucl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01321:Mucl3
|
APN |
17 |
35,947,758 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01805:Mucl3
|
APN |
17 |
35,948,535 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL02320:Mucl3
|
APN |
17 |
35,948,332 (GRCm39) |
missense |
probably benign |
0.00 |
R1869:Mucl3
|
UTSW |
17 |
35,949,305 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4570:Mucl3
|
UTSW |
17 |
35,948,883 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4858:Mucl3
|
UTSW |
17 |
35,948,468 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5592:Mucl3
|
UTSW |
17 |
35,954,535 (GRCm39) |
missense |
probably damaging |
0.99 |
R5733:Mucl3
|
UTSW |
17 |
35,949,102 (GRCm39) |
missense |
probably benign |
0.00 |
R7422:Mucl3
|
UTSW |
17 |
35,949,312 (GRCm39) |
missense |
probably benign |
0.00 |
R7689:Mucl3
|
UTSW |
17 |
35,948,969 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7780:Mucl3
|
UTSW |
17 |
35,947,874 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8079:Mucl3
|
UTSW |
17 |
35,949,084 (GRCm39) |
missense |
unknown |
|
R8320:Mucl3
|
UTSW |
17 |
35,954,530 (GRCm39) |
missense |
probably benign |
0.22 |
R8337:Mucl3
|
UTSW |
17 |
35,948,486 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8867:Mucl3
|
UTSW |
17 |
35,948,872 (GRCm39) |
missense |
probably benign |
0.27 |
R9734:Mucl3
|
UTSW |
17 |
35,949,233 (GRCm39) |
missense |
probably benign |
0.07 |
|
Posted On |
2012-04-20 |