Incidental Mutation 'R8396:Pag1'
| ID |
647595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pag1
|
| Ensembl Gene |
ENSMUSG00000027508 |
| Gene Name |
phosphoprotein associated with glycosphingolipid microdomains 1 |
| Synonyms |
F730007C19Rik, Cbp |
| MMRRC Submission |
067812-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8396 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
9752539-9898739 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9759112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 335
(E335D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108384]
[ENSMUST00000161949]
|
| AlphaFold |
Q3U1F9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108384
AA Change: E335D
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000104021
Gene: ENSMUSG00000027508
AA Change: E335D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAG
|
1 |
429 |
8.7e-209 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161949
AA Change: E335D
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124529
Gene: ENSMUSG00000027508
AA Change: E335D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAG
|
2 |
429 |
1.4e-208 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
A |
G |
10: 18,528,280 (GRCm39) |
|
probably null |
Het |
| Arid1a |
T |
C |
4: 133,479,973 (GRCm39) |
Y317C |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,552,220 (GRCm39) |
T1321A |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,504,931 (GRCm39) |
Y129C |
probably damaging |
Het |
| Birc2 |
A |
G |
9: 7,834,301 (GRCm39) |
V60A |
probably benign |
Het |
| Bmp8a |
T |
C |
4: 123,218,952 (GRCm39) |
H152R |
probably benign |
Het |
| C3 |
T |
C |
17: 57,528,029 (GRCm39) |
H730R |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 61,289,088 (GRCm39) |
V417E |
probably benign |
Het |
| Cfap58 |
T |
A |
19: 48,017,540 (GRCm39) |
M800K |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,780,627 (GRCm39) |
L352P |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,840,376 (GRCm39) |
L522P |
probably damaging |
Het |
| Ctcf |
T |
A |
8: 106,393,379 (GRCm39) |
H347Q |
possibly damaging |
Het |
| Gm13271 |
A |
T |
4: 88,673,318 (GRCm39) |
M72L |
probably benign |
Het |
| Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
| Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
| Irx5 |
G |
A |
8: 93,086,962 (GRCm39) |
G298D |
probably benign |
Het |
| Klf5 |
T |
C |
14: 99,539,670 (GRCm39) |
I361T |
possibly damaging |
Het |
| Lsm11 |
G |
A |
11: 45,835,591 (GRCm39) |
A50V |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,570,621 (GRCm39) |
K700R |
unknown |
Het |
| Muc5b |
A |
T |
7: 141,405,552 (GRCm39) |
T954S |
unknown |
Het |
| Nhsl1 |
A |
G |
10: 18,400,910 (GRCm39) |
N678S |
probably benign |
Het |
| Npsr1 |
T |
A |
9: 24,221,377 (GRCm39) |
I277N |
possibly damaging |
Het |
| Ntsr2 |
A |
G |
12: 16,706,821 (GRCm39) |
H283R |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,893,829 (GRCm39) |
I6746N |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,480,350 (GRCm39) |
T425A |
probably benign |
Het |
| Parp3 |
T |
A |
9: 106,351,447 (GRCm39) |
Q223L |
probably benign |
Het |
| Pogz |
T |
C |
3: 94,786,061 (GRCm39) |
V883A |
probably benign |
Het |
| Rsbn1l |
A |
T |
5: 21,132,665 (GRCm39) |
M198K |
probably benign |
Het |
| Sh3bgr |
A |
G |
16: 96,007,680 (GRCm39) |
|
probably null |
Het |
| Shc4 |
A |
G |
2: 125,471,617 (GRCm39) |
I600T |
probably damaging |
Het |
| Slc26a1 |
T |
C |
5: 108,821,715 (GRCm39) |
H74R |
probably benign |
Het |
| Slc7a11 |
A |
C |
3: 50,338,578 (GRCm39) |
I277S |
possibly damaging |
Het |
| Tep1 |
G |
T |
14: 51,074,529 (GRCm39) |
T1832N |
probably benign |
Het |
| Terf2 |
A |
G |
8: 107,809,613 (GRCm39) |
|
probably null |
Het |
| Tle4 |
G |
A |
19: 14,432,323 (GRCm39) |
Q458* |
probably null |
Het |
| Trim34b |
A |
T |
7: 103,979,083 (GRCm39) |
D110V |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,308,034 (GRCm39) |
N2267K |
possibly damaging |
Het |
| Vmn2r50 |
G |
A |
7: 9,781,639 (GRCm39) |
Q369* |
probably null |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp229 |
T |
C |
17: 21,965,077 (GRCm39) |
S436P |
probably 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 |
|
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 |
|
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'- ACATGGTGGCCATTGGTCTC -3'
(R):5'- AACATACAGCTCTTACAGGCAGTAG -3'
Sequencing Primer
(F):5'- ATTGGTCTCCAGAGGGACCTTC -3'
(R):5'- AGGCCAAGTGTATAGCTTGTCACC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation