Incidental Mutation 'R2315:Pag1'
| ID |
245449 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
9752539-9898739 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 9764824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 110
(V110I)
|
| 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: V110I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104021
Gene: ENSMUSG00000027508
AA Change: V110I
| 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: V110I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124529
Gene: ENSMUSG00000027508
AA Change: V110I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAG
|
2 |
429 |
1.4e-208 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cnot1 |
C |
T |
8: 96,475,690 (GRCm39) |
G995R |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,450,735 (GRCm39) |
T547A |
probably benign |
Het |
| Ddx20 |
A |
G |
3: 105,586,015 (GRCm39) |
Y777H |
probably damaging |
Het |
| Fbxo32 |
T |
C |
15: 58,071,431 (GRCm39) |
N50S |
probably benign |
Het |
| Fsip2 |
G |
C |
2: 82,805,437 (GRCm39) |
M585I |
probably benign |
Het |
| Gm13941 |
A |
G |
2: 110,935,162 (GRCm39) |
S23P |
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Hoxa2 |
A |
G |
6: 52,139,871 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,124,676 (GRCm39) |
I562V |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,908,999 (GRCm39) |
L179M |
probably damaging |
Het |
| Myl3 |
T |
C |
9: 110,595,809 (GRCm39) |
L102P |
probably damaging |
Het |
| Scube2 |
A |
G |
7: 109,403,908 (GRCm39) |
F861L |
probably damaging |
Het |
| Serpina3n |
A |
T |
12: 104,378,627 (GRCm39) |
I316F |
possibly damaging |
Het |
| Sez6l |
A |
G |
5: 112,612,463 (GRCm39) |
S493P |
probably benign |
Het |
| Sult1c2 |
T |
A |
17: 54,145,521 (GRCm39) |
T52S |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Vmn2r17 |
A |
C |
5: 109,575,897 (GRCm39) |
D256A |
probably damaging |
Het |
| Xylb |
T |
C |
9: 119,188,335 (GRCm39) |
F47S |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,680,067 (GRCm39) |
D532G |
possibly damaging |
Het |
|
| Other mutations in Pag1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01701:Pag1
|
APN |
3 |
9,758,886 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACAGTCCTCCACCATGTTC -3'
(R):5'- GTGAACCGGTTCCTTTCAATG -3'
Sequencing Primer
(F):5'- TGTCCTTGAGCACCTCGTAGG -3'
(R):5'- GAACCGGTTCCTTTCAATGTAATGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation