Incidental Mutation 'IGL00424:Prol1'
| ID |
5595 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prol1
|
| Ensembl Gene |
ENSMUSG00000064156 |
| Gene Name |
proline rich, lacrimal 1 |
| Synonyms |
Muc10 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
IGL00424
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
88465171-88476673 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88475718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 36
(Y36C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132678
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170832]
|
| AlphaFold |
E9PYQ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170832
AA Change: Y36C
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132678
Gene: ENSMUSG00000064156
AA Change: Y36C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
295 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
A |
G |
3: 137,988,260 (GRCm39) |
E108G |
probably benign |
Het |
| Afap1l2 |
A |
G |
19: 56,990,740 (GRCm39) |
|
probably benign |
Het |
| Als2cl |
T |
C |
9: 110,715,607 (GRCm39) |
|
probably null |
Het |
| Bpifb1 |
A |
G |
2: 154,059,087 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
G |
A |
5: 122,006,601 (GRCm39) |
R890W |
possibly damaging |
Het |
| Fancb |
A |
C |
X: 163,766,334 (GRCm39) |
Q272P |
probably damaging |
Het |
| Fmnl1 |
G |
A |
11: 103,088,166 (GRCm39) |
W1008* |
probably null |
Het |
| Gfra2 |
T |
A |
14: 71,205,679 (GRCm39) |
|
probably benign |
Het |
| Gjd2 |
A |
G |
2: 113,842,258 (GRCm39) |
I73T |
probably damaging |
Het |
| Itgae |
T |
C |
11: 73,036,461 (GRCm39) |
I1133T |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,101,190 (GRCm39) |
V594E |
probably damaging |
Het |
| Maml2 |
T |
A |
9: 13,532,208 (GRCm39) |
V474E |
probably damaging |
Het |
| Mysm1 |
G |
A |
4: 94,861,146 (GRCm39) |
|
probably benign |
Het |
| Ntrk3 |
C |
T |
7: 77,900,621 (GRCm39) |
A573T |
probably benign |
Het |
| Pi4kb |
A |
G |
3: 94,911,574 (GRCm39) |
D348G |
probably damaging |
Het |
| Rfx6 |
T |
A |
10: 51,557,982 (GRCm39) |
C152S |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Tnxb |
T |
G |
17: 34,933,666 (GRCm39) |
F2362C |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,274,346 (GRCm39) |
|
probably benign |
Het |
| Trf |
G |
A |
9: 103,104,135 (GRCm39) |
A76V |
probably damaging |
Het |
| Tubgcp3 |
C |
T |
8: 12,671,809 (GRCm39) |
R811H |
probably benign |
Het |
| Zfp820 |
A |
T |
17: 22,038,292 (GRCm39) |
H345Q |
probably damaging |
Het |
|
| Other mutations in Prol1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Prol1
|
APN |
5 |
88,476,550 (GRCm39) |
makesense |
probably null |
|
|
IGL01943:Prol1
|
APN |
5 |
88,475,820 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03291:Prol1
|
APN |
5 |
88,476,379 (GRCm39) |
missense |
unknown |
|
|
R2144:Prol1
|
UTSW |
5 |
88,476,254 (GRCm39) |
missense |
unknown |
|
|
R2888:Prol1
|
UTSW |
5 |
88,476,168 (GRCm39) |
missense |
unknown |
|
|
R3849:Prol1
|
UTSW |
5 |
88,476,476 (GRCm39) |
missense |
unknown |
|
|
R4078:Prol1
|
UTSW |
5 |
88,476,075 (GRCm39) |
missense |
unknown |
|
|
R4079:Prol1
|
UTSW |
5 |
88,476,075 (GRCm39) |
missense |
unknown |
|
|
R4166:Prol1
|
UTSW |
5 |
88,476,530 (GRCm39) |
missense |
unknown |
|
|
R5447:Prol1
|
UTSW |
5 |
88,476,125 (GRCm39) |
missense |
unknown |
|
|
R5709:Prol1
|
UTSW |
5 |
88,475,711 (GRCm39) |
nonsense |
probably null |
|
|
R6253:Prol1
|
UTSW |
5 |
88,475,736 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7804:Prol1
|
UTSW |
5 |
88,476,264 (GRCm39) |
missense |
unknown |
|
|
R7935:Prol1
|
UTSW |
5 |
88,475,874 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9697:Prol1
|
UTSW |
5 |
88,466,426 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2012-04-20 |
Incidental Mutation