Incidental Mutation 'IGL01701:Pag1'
| ID |
104484 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pag1
|
| Ensembl Gene |
ENSMUSG00000027508 |
| Gene Name |
phosphoprotein associated with glycosphingolipid microdomains 1 |
| Synonyms |
F730007C19Rik, Cbp |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01701
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
9752539-9898739 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 9758886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 411
(E411K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108384]
[ENSMUST00000161949]
|
| AlphaFold |
Q3U1F9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108384
AA Change: E411K
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104021
Gene: ENSMUSG00000027508
AA Change: E411K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAG
|
1 |
429 |
8.7e-209 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159825
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161949
AA Change: E411K
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124529
Gene: ENSMUSG00000027508
AA Change: E411K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAG
|
2 |
429 |
1.4e-208 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit no apparent defects in embryogenesis, thymic development, or T-cell functions. Mice homozygous for a different knock-out allele show normal T-cell development albeit with an increased thymocyte population. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
G |
2: 35,254,776 (GRCm39) |
Y36H |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,567,750 (GRCm39) |
D5141G |
possibly damaging |
Het |
| Adk |
G |
A |
14: 21,153,922 (GRCm39) |
E42K |
probably damaging |
Het |
| Akap1 |
C |
A |
11: 88,735,958 (GRCm39) |
V268L |
probably benign |
Het |
| Arl6ip5 |
A |
G |
6: 97,187,774 (GRCm39) |
|
probably benign |
Het |
| Atrx |
A |
G |
X: 104,874,526 (GRCm39) |
S1945P |
probably damaging |
Het |
| Clec5a |
G |
A |
6: 40,559,160 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,232,741 (GRCm39) |
|
probably benign |
Het |
| Cul3 |
G |
T |
1: 80,255,140 (GRCm39) |
H6Q |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,669,012 (GRCm39) |
|
probably benign |
Het |
| Furin |
C |
A |
7: 80,042,240 (GRCm39) |
V452F |
probably benign |
Het |
| Furin |
T |
A |
7: 80,040,507 (GRCm39) |
D777V |
probably benign |
Het |
| Gm57859 |
T |
C |
11: 113,579,927 (GRCm39) |
F441L |
probably benign |
Het |
| Hmgb4 |
G |
A |
4: 128,154,166 (GRCm39) |
T134I |
probably benign |
Het |
| Ift74 |
A |
T |
4: 94,550,895 (GRCm39) |
E349V |
possibly damaging |
Het |
| Igkv6-23 |
A |
T |
6: 70,237,880 (GRCm39) |
L13Q |
probably damaging |
Het |
| Lekr1 |
A |
T |
3: 65,591,425 (GRCm39) |
Y54F |
probably damaging |
Het |
| Lman1 |
A |
T |
18: 66,127,921 (GRCm39) |
V241E |
possibly damaging |
Het |
| Mat1a |
T |
A |
14: 40,836,772 (GRCm39) |
D167E |
probably benign |
Het |
| Myl6 |
G |
A |
10: 128,327,966 (GRCm39) |
A130V |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,791,877 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
A |
T |
13: 65,347,223 (GRCm39) |
W12R |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,314,669 (GRCm39) |
R276G |
probably benign |
Het |
| Or4f61 |
T |
C |
2: 111,922,851 (GRCm39) |
N65S |
possibly damaging |
Het |
| Or5m13b |
C |
A |
2: 85,754,421 (GRCm39) |
Q270K |
possibly damaging |
Het |
| Prorp |
T |
G |
12: 55,355,660 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,082,339 (GRCm39) |
N1422D |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,759,235 (GRCm39) |
R3345Q |
probably damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,361,280 (GRCm39) |
L85P |
probably damaging |
Het |
| Slc22a17 |
T |
C |
14: 55,144,718 (GRCm39) |
H565R |
probably damaging |
Het |
| Slc46a3 |
T |
C |
5: 147,823,108 (GRCm39) |
T245A |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 129,358,665 (GRCm39) |
H33R |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,847,318 (GRCm39) |
V1260A |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,681,461 (GRCm39) |
F236Y |
probably damaging |
Het |
| Trim30b |
A |
C |
7: 104,015,258 (GRCm39) |
Y43* |
probably null |
Het |
| Trpc3 |
T |
C |
3: 36,725,743 (GRCm39) |
K78E |
possibly damaging |
Het |
| Twist2 |
A |
T |
1: 91,729,736 (GRCm39) |
M130L |
probably benign |
Het |
| Ube2q2l |
T |
A |
6: 136,377,804 (GRCm39) |
Y342F |
probably damaging |
Het |
|
| Other mutations in Pag1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0331:Pag1
|
UTSW |
3 |
9,767,030 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0561:Pag1
|
UTSW |
3 |
9,764,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Pag1
|
UTSW |
3 |
9,758,946 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2082:Pag1
|
UTSW |
3 |
9,764,545 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2315:Pag1
|
UTSW |
3 |
9,764,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3772:Pag1
|
UTSW |
3 |
9,764,688 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4448:Pag1
|
UTSW |
3 |
9,764,526 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5590:Pag1
|
UTSW |
3 |
9,764,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6157:Pag1
|
UTSW |
3 |
9,758,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6481:Pag1
|
UTSW |
3 |
9,764,396 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6776:Pag1
|
UTSW |
3 |
9,764,848 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7450:Pag1
|
UTSW |
3 |
9,764,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7574:Pag1
|
UTSW |
3 |
9,758,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8046:Pag1
|
UTSW |
3 |
9,764,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8396:Pag1
|
UTSW |
3 |
9,759,112 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8855:Pag1
|
UTSW |
3 |
9,764,529 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9092:Pag1
|
UTSW |
3 |
9,764,848 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9584:Pag1
|
UTSW |
3 |
9,761,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9657:Pag1
|
UTSW |
3 |
9,769,791 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Pag1
|
UTSW |
3 |
9,761,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation