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 |
Incidental Mutation