Incidental Mutation 'IGL01701:Pag1'
ID104484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pag1
Ensembl Gene ENSMUSG00000027508
Gene Namephosphoprotein associated with glycosphingolipid microdomains 1
SynonymsF730007C19Rik, Cbp
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01701
Quality Score
Status
Chromosome3
Chromosomal Location9687479-9833679 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 9693826 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik T G 12: 55,308,875 probably benign Het
2410089E03Rik T C 15: 8,203,257 probably benign Het
4930568D16Rik A G 2: 35,364,764 Y36H possibly damaging Het
Adgrv1 T C 13: 81,419,631 D5141G possibly damaging Het
Adk G A 14: 21,103,854 E42K probably damaging Het
Akap1 C A 11: 88,845,132 V268L probably benign Het
Arl6ip5 A G 6: 97,210,813 probably benign Het
Atrx A G X: 105,830,920 S1945P probably damaging Het
Clec5a G A 6: 40,582,226 probably benign Het
Cul3 G T 1: 80,277,423 H6Q probably damaging Het
D11Wsu47e T C 11: 113,689,101 F441L probably benign Het
E330021D16Rik T A 6: 136,400,806 Y342F probably damaging Het
Fn1 T C 1: 71,629,853 probably benign Het
Furin C A 7: 80,392,492 V452F probably benign Het
Furin T A 7: 80,390,759 D777V probably benign Het
Hmgb4 G A 4: 128,260,373 T134I probably benign Het
Ift74 A T 4: 94,662,658 E349V possibly damaging Het
Igkv6-23 A T 6: 70,260,896 L13Q probably damaging Het
Lekr1 A T 3: 65,684,004 Y54F probably damaging Het
Lman1 A T 18: 65,994,850 V241E possibly damaging Het
Mat1a T A 14: 41,114,815 D167E probably benign Het
Myl6 G A 10: 128,492,097 A130V probably damaging Het
Myo9a T C 9: 59,884,594 probably null Het
Nlrp4f A T 13: 65,199,409 W12R probably damaging Het
Nr1h4 T C 10: 89,478,807 R276G probably benign Het
Olfr1026 C A 2: 85,924,077 Q270K possibly damaging Het
Olfr1314 T C 2: 112,092,506 N65S possibly damaging Het
Rttn A G 18: 89,064,215 N1422D probably damaging Het
Ryr1 C T 7: 29,059,810 R3345Q probably damaging Het
Slc12a8 T C 16: 33,540,910 L85P probably damaging Het
Slc22a17 T C 14: 54,907,261 H565R probably damaging Het
Slc46a3 T C 5: 147,886,298 T245A probably benign Het
Thsd7b A G 1: 129,430,928 H33R probably benign Het
Tmem131 A G 1: 36,808,237 V1260A probably benign Het
Tmem30a A T 9: 79,774,179 F236Y probably damaging Het
Trim30b A C 7: 104,366,051 Y43* probably null Het
Trpc3 T C 3: 36,671,594 K78E possibly damaging Het
Twist2 A T 1: 91,802,014 M130L probably benign Het
Other mutations in Pag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0331:Pag1 UTSW 3 9701970 missense probably benign 0.13
R0561:Pag1 UTSW 3 9699421 missense probably damaging 1.00
R1797:Pag1 UTSW 3 9693886 missense probably benign 0.04
R2082:Pag1 UTSW 3 9699485 missense probably damaging 0.96
R2315:Pag1 UTSW 3 9699764 missense probably damaging 1.00
R3772:Pag1 UTSW 3 9699628 missense probably benign 0.20
R4448:Pag1 UTSW 3 9699466 missense probably benign 0.19
R5590:Pag1 UTSW 3 9699422 missense probably damaging 1.00
R6157:Pag1 UTSW 3 9693836 missense probably benign 0.00
R6481:Pag1 UTSW 3 9699336 missense possibly damaging 0.85
R6776:Pag1 UTSW 3 9699788 missense probably benign 0.29
R7450:Pag1 UTSW 3 9699539 missense probably damaging 1.00
R7574:Pag1 UTSW 3 9693891 missense probably damaging 1.00
R8046:Pag1 UTSW 3 9699422 missense probably damaging 1.00
R8396:Pag1 UTSW 3 9694052 missense probably benign 0.04
Z1177:Pag1 UTSW 3 9696138 missense probably damaging 1.00
Posted On2014-01-21