Incidental Mutation 'IGL00921:D1Pas1'
| ID |
26637 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
D1Pas1
|
| Ensembl Gene |
ENSMUSG00000039224 |
| Gene Name |
DNA segment, Chr 1, Pasteur Institute 1 |
| Synonyms |
Pl10 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00921
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
186699613-186702824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 186700983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 304
(D304G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045108]
|
| AlphaFold |
P16381 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045108
AA Change: D304G
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035261
Gene: ENSMUSG00000039224
AA Change: D304G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
122 |
N/A |
INTRINSIC |
|
DEXDc
|
198 |
417 |
9.08e-66 |
SMART |
|
HELICc
|
454 |
535 |
1.23e-35 |
SMART |
|
low complexity region
|
580 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
654 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191895
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,324,888 (GRCm39) |
I1530T |
probably damaging |
Het |
| Actb |
T |
C |
5: 142,890,191 (GRCm39) |
E237G |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,690,585 (GRCm39) |
E931G |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,185,387 (GRCm39) |
T375A |
probably benign |
Het |
| Ddx49 |
G |
A |
8: 70,747,406 (GRCm39) |
Q345* |
probably null |
Het |
| Dnttip2 |
A |
T |
3: 122,068,939 (GRCm39) |
K51N |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,543,066 (GRCm39) |
E621G |
probably damaging |
Het |
| Grhpr |
A |
G |
4: 44,988,991 (GRCm39) |
D216G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,729,126 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
A |
G |
7: 4,667,750 (GRCm39) |
S248P |
probably damaging |
Het |
| Kat6a |
C |
T |
8: 23,430,279 (GRCm39) |
P1878L |
unknown |
Het |
| Klrg1 |
A |
T |
6: 122,259,711 (GRCm39) |
D20E |
probably benign |
Het |
| Layn |
G |
A |
9: 50,968,708 (GRCm39) |
T345I |
probably damaging |
Het |
| Mpi |
G |
A |
9: 57,459,549 (GRCm39) |
L9F |
probably damaging |
Het |
| Nbn |
T |
C |
4: 15,963,833 (GRCm39) |
V78A |
possibly damaging |
Het |
| Pkdrej |
A |
G |
15: 85,701,427 (GRCm39) |
I1503T |
probably damaging |
Het |
| Pou2f2 |
C |
A |
7: 24,792,125 (GRCm39) |
E577* |
probably null |
Het |
| Prim2 |
G |
T |
1: 33,551,241 (GRCm39) |
H292Q |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,636,302 (GRCm39) |
N630D |
probably benign |
Het |
| Trim80 |
A |
G |
11: 115,338,490 (GRCm39) |
N440S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,766,746 (GRCm39) |
S3111G |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,447,160 (GRCm39) |
T339A |
probably benign |
Het |
| Zbtb21 |
A |
C |
16: 97,753,222 (GRCm39) |
S354A |
probably damaging |
Het |
| Zfp335 |
T |
C |
2: 164,736,696 (GRCm39) |
T980A |
possibly damaging |
Het |
|
| Other mutations in D1Pas1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00816:D1Pas1
|
APN |
1 |
186,701,609 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1693:D1Pas1
|
UTSW |
1 |
186,700,226 (GRCm39) |
missense |
probably benign |
|
|
R2029:D1Pas1
|
UTSW |
1 |
186,700,286 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3732:D1Pas1
|
UTSW |
1 |
186,700,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3732:D1Pas1
|
UTSW |
1 |
186,700,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3733:D1Pas1
|
UTSW |
1 |
186,700,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3930:D1Pas1
|
UTSW |
1 |
186,700,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5302:D1Pas1
|
UTSW |
1 |
186,701,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5815:D1Pas1
|
UTSW |
1 |
186,700,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6705:D1Pas1
|
UTSW |
1 |
186,700,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7023:D1Pas1
|
UTSW |
1 |
186,700,205 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7747:D1Pas1
|
UTSW |
1 |
186,700,874 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7862:D1Pas1
|
UTSW |
1 |
186,700,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8410:D1Pas1
|
UTSW |
1 |
186,700,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation