Incidental Mutation 'IGL01676:Pak1'
ID103647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pak1
Ensembl Gene ENSMUSG00000030774
Gene Namep21 (RAC1) activated kinase 1
SynonymsPaka, PAK-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01676
Quality Score
Status
Chromosome7
Chromosomal Location97788541-97912381 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 97883531 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 179 (D179E)
Ref Sequence ENSEMBL: ENSMUSP00000146055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033040] [ENSMUST00000156637] [ENSMUST00000206984]
Predicted Effect probably benign
Transcript: ENSMUST00000033040
AA Change: D179E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033040
Gene: ENSMUSG00000030774
AA Change: D179E

DomainStartEndE-ValueType
low complexity region 39 51 N/A INTRINSIC
PBD 75 110 3.92e-16 SMART
low complexity region 168 191 N/A INTRINSIC
S_TKc 269 520 7.19e-98 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156637
SMART Domains Protein: ENSMUSP00000138684
Gene: ENSMUSG00000030774

DomainStartEndE-ValueType
low complexity region 39 51 N/A INTRINSIC
PBD 75 110 3.92e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000206984
AA Change: D179E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele display defects in allergen-induced mast cell migration and degranulation. Mice homozygous for a different knock-out allele exhibit reduced long term potentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A T 7: 119,708,643 R334S probably benign Het
Adamts3 A T 5: 89,677,754 F1075L probably benign Het
Adamts3 A G 5: 89,881,543 V30A possibly damaging Het
Bpifb5 A G 2: 154,229,049 N223D possibly damaging Het
Cacna1e T C 1: 154,398,476 R2228G probably damaging Het
Cacna1e T C 1: 154,412,450 E1894G probably damaging Het
Calr4 A G 4: 109,244,250 K110E probably damaging Het
Catsperz G T 19: 6,925,053 Y24* probably null Het
Clec9a T G 6: 129,421,155 S219A probably benign Het
Csrnp3 T A 2: 65,948,992 I16N probably damaging Het
Ddx19a A G 8: 110,980,989 probably null Het
Diaph1 G A 18: 37,856,188 Q905* probably null Het
Dnah10 T C 5: 124,803,328 M2743T possibly damaging Het
Ears2 A T 7: 122,044,558 D392E probably benign Het
Fsip1 T C 2: 118,240,384 probably benign Het
Gm9268 A G 7: 43,024,709 N397S probably damaging Het
Ighv1-74 T C 12: 115,802,703 Y98C possibly damaging Het
Igsf10 T C 3: 59,326,011 K1767R probably benign Het
Igsf10 C T 3: 59,329,335 A1142T probably benign Het
Lpar6 A G 14: 73,239,570 N324D probably benign Het
Lrit1 T A 14: 37,057,437 L109Q probably damaging Het
Nlrp4f A T 13: 65,195,119 D237E possibly damaging Het
Oas1h G T 5: 120,871,834 G324V probably damaging Het
Prop1 T A 11: 50,952,129 Q77L probably damaging Het
Scn10a A T 9: 119,672,165 Y184* probably null Het
Sdk1 T C 5: 142,127,836 F1546S probably damaging Het
Trim67 A T 8: 124,815,160 I366F possibly damaging Het
Vmn2r94 T G 17: 18,257,010 M380L probably benign Het
Zfand3 T G 17: 30,135,363 S51R possibly damaging Het
Zfp36l3 T C X: 53,775,657 S197G probably benign Het
Other mutations in Pak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Pak1 APN 7 97854568 missense probably benign 0.03
IGL02058:Pak1 APN 7 97911115 missense probably damaging 1.00
IGL02557:Pak1 APN 7 97871587 missense probably benign 0.08
IGL02678:Pak1 APN 7 97894002 missense probably damaging 0.99
R1739:Pak1 UTSW 7 97904695 missense probably damaging 1.00
R1874:Pak1 UTSW 7 97871580 missense probably benign 0.23
R2057:Pak1 UTSW 7 97907797 splice site probably null
R2363:Pak1 UTSW 7 97886314 missense probably benign 0.01
R2420:Pak1 UTSW 7 97854479 missense probably benign 0.02
R2880:Pak1 UTSW 7 97904811 missense probably damaging 1.00
R3113:Pak1 UTSW 7 97866114 nonsense probably null
R3722:Pak1 UTSW 7 97854497 missense probably damaging 1.00
R4363:Pak1 UTSW 7 97883586 missense possibly damaging 0.49
R6021:Pak1 UTSW 7 97854463 missense probably damaging 1.00
R6459:Pak1 UTSW 7 97907881 missense probably benign 0.04
R6820:Pak1 UTSW 7 97886379 missense probably benign
R7336:Pak1 UTSW 7 97888972 missense probably benign 0.13
R7717:Pak1 UTSW 7 97886348 missense probably benign 0.00
R8033:Pak1 UTSW 7 97886383 missense probably benign
X0027:Pak1 UTSW 7 97904752 missense probably damaging 0.99
Z1177:Pak1 UTSW 7 97865494 missense probably benign 0.01
Posted On2014-01-21