Incidental Mutation 'IGL03070:Pabir1'
| ID |
417479 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pabir1
|
| Ensembl Gene |
ENSMUSG00000074922 |
| Gene Name |
PP2A A alpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 |
| Synonyms |
Gm9849, 2900009I07Rik, Fam122a, 2410124L17Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.500)
|
| Stock # |
IGL03070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
24453866-24454720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 24454316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 135
(D135E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025800]
[ENSMUST00000099556]
[ENSMUST00000112673]
|
| AlphaFold |
Q9DB52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025800
|
| SMART Domains |
Protein: ENSMUSP00000025800
Gene: ENSMUSG00000024867
| Domain | Start | End | E-Value | Type |
|---|
|
PIPKc
|
53 |
396 |
1.1e-159 |
SMART |
|
low complexity region
|
472 |
484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099556
AA Change: D135E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097152
Gene: ENSMUSG00000074922
AA Change: D135E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112673
|
| SMART Domains |
Protein: ENSMUSP00000108292
Gene: ENSMUSG00000024867
| Domain | Start | End | E-Value | Type |
|---|
|
PIPKc
|
53 |
396 |
1.1e-159 |
SMART |
|
low complexity region
|
420 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145829
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156814
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,193,800 (GRCm39) |
E404G |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,422,064 (GRCm39) |
S778P |
unknown |
Het |
| Asah2 |
A |
T |
19: 31,983,744 (GRCm39) |
Y567N |
probably damaging |
Het |
| Crb1 |
G |
T |
1: 139,168,996 (GRCm39) |
H841N |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,765,981 (GRCm39) |
V1454A |
probably benign |
Het |
| Eif3d |
A |
G |
15: 77,843,843 (GRCm39) |
L501P |
probably damaging |
Het |
| Fbxo4 |
A |
T |
15: 4,007,344 (GRCm39) |
S107T |
possibly damaging |
Het |
| Galnt10 |
T |
C |
11: 57,616,408 (GRCm39) |
Y108H |
probably damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,639,096 (GRCm39) |
D263E |
probably damaging |
Het |
| Kpna3 |
T |
C |
14: 61,608,231 (GRCm39) |
|
probably benign |
Het |
| Miox |
A |
G |
15: 89,220,287 (GRCm39) |
T160A |
possibly damaging |
Het |
| Mlxipl |
G |
A |
5: 135,161,307 (GRCm39) |
V409M |
possibly damaging |
Het |
| Mrps21 |
A |
T |
3: 95,777,897 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,230,834 (GRCm39) |
|
probably benign |
Het |
| Mup6 |
A |
T |
4: 60,003,999 (GRCm39) |
I31F |
probably damaging |
Het |
| Or52s1 |
A |
G |
7: 102,861,904 (GRCm39) |
H279R |
probably benign |
Het |
| Pgr |
T |
A |
9: 8,903,665 (GRCm39) |
I562N |
possibly damaging |
Het |
| Prag1 |
T |
A |
8: 36,570,703 (GRCm39) |
W429R |
probably benign |
Het |
| Prrc2c |
G |
T |
1: 162,504,978 (GRCm39) |
P2621Q |
probably damaging |
Het |
| Psip1 |
T |
G |
4: 83,383,318 (GRCm39) |
K232N |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,770,084 (GRCm39) |
Y2663C |
probably damaging |
Het |
| Trhr2 |
T |
A |
8: 123,085,342 (GRCm39) |
Q214L |
probably benign |
Het |
| Txndc11 |
A |
T |
16: 10,893,151 (GRCm39) |
Y860N |
probably damaging |
Het |
| Uqcc6 |
A |
T |
10: 82,455,950 (GRCm39) |
|
probably benign |
Het |
| Vmn2r72 |
C |
T |
7: 85,401,249 (GRCm39) |
|
probably benign |
Het |
| Yif1a |
T |
A |
19: 5,138,757 (GRCm39) |
H4Q |
possibly damaging |
Het |
|
| Other mutations in Pabir1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00515:Pabir1
|
APN |
19 |
24,453,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01662:Pabir1
|
APN |
19 |
24,453,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4032:Pabir1
|
UTSW |
19 |
24,454,106 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6164:Pabir1
|
UTSW |
19 |
24,454,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7301:Pabir1
|
UTSW |
19 |
24,454,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7301:Pabir1
|
UTSW |
19 |
24,454,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7940:Pabir1
|
UTSW |
19 |
24,454,552 (GRCm39) |
missense |
probably benign |
0.41 |
|
Z1177:Pabir1
|
UTSW |
19 |
24,454,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation