Incidental Mutation 'IGL01672:Palld'
ID103520
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Palld
Ensembl Gene ENSMUSG00000058056
Gene Namepalladin, cytoskeletal associated protein
Synonyms2410003B16Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01672
Quality Score
Status
Chromosome8
Chromosomal Location61511433-61902690 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 61877502 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 114 (I114F)
Ref Sequence ENSEMBL: ENSMUSP00000112442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034057] [ENSMUST00000121785]
Predicted Effect probably benign
Transcript: ENSMUST00000034057
AA Change: I114F

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034057
Gene: ENSMUSG00000058056
AA Change: I114F

DomainStartEndE-ValueType
IGc2 290 358 1.45e-9 SMART
low complexity region 372 385 N/A INTRINSIC
IGc2 460 535 1.6e-11 SMART
low complexity region 639 667 N/A INTRINSIC
IGc2 796 865 3.1e-9 SMART
low complexity region 881 906 N/A INTRINSIC
IGc2 930 998 4.92e-12 SMART
IGc2 1029 1098 1.61e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121785
AA Change: I114F

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112442
Gene: ENSMUSG00000058056
AA Change: I114F

DomainStartEndE-ValueType
IGc2 290 358 1.45e-9 SMART
low complexity region 372 385 N/A INTRINSIC
IGc2 460 535 1.6e-11 SMART
low complexity region 639 673 N/A INTRINSIC
low complexity region 687 715 N/A INTRINSIC
low complexity region 765 796 N/A INTRINSIC
low complexity region 805 840 N/A INTRINSIC
IGc2 1038 1107 3.1e-9 SMART
low complexity region 1123 1148 N/A INTRINSIC
IGc2 1172 1240 4.92e-12 SMART
IGc2 1271 1340 1.61e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133752
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 cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: All homozygous null embryos die around E15.5 displaying exencephaly derived from neural tube closure defects, and herniation of the intestine and liver due to ventral closure defects. Mutant MEFs show impaired formation of actin stress fibers, reduced migration and decreased adhesion to fibronectin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,641,357 E203G probably damaging Het
AI314180 A G 4: 58,814,041 V1355A probably benign Het
Ano1 G T 7: 144,655,675 Q206K probably damaging Het
Ap4e1 T A 2: 127,052,189 S620T probably damaging Het
Arfip1 A T 3: 84,548,032 probably benign Het
Atp8a2 A T 14: 59,691,533 M1024K probably benign Het
Brap T C 5: 121,678,845 probably benign Het
Calcrl T A 2: 84,345,070 T287S probably damaging Het
Clptm1l G A 13: 73,607,873 probably null Het
Cpb1 T A 3: 20,275,421 Q47L probably null Het
Cse1l T C 2: 166,929,967 I402T probably damaging Het
Dnah17 A G 11: 118,042,160 S3591P probably damaging Het
Dst T G 1: 34,225,693 I2322S probably damaging Het
Dync2h1 G A 9: 7,118,884 R2194* probably null Het
Eno4 A G 19: 58,943,545 N30S possibly damaging Het
Ero1l A C 14: 45,292,430 S349A probably benign Het
Fat1 C T 8: 45,040,700 T3938I probably benign Het
Focad T C 4: 88,360,590 probably null Het
Gnai3 A T 3: 108,109,459 I343N probably damaging Het
Golph3 T C 15: 12,349,557 V221A probably benign Het
Gpr153 C A 4: 152,279,913 S142* probably null Het
Itpr1 C A 6: 108,381,032 Y557* probably null Het
Nat8f5 A G 6: 85,817,952 Y9H probably damaging Het
Nbas T C 12: 13,379,649 V1045A possibly damaging Het
Nol8 T C 13: 49,675,407 V1047A possibly damaging Het
Olfr330 A C 11: 58,529,122 L288R probably benign Het
Olfr491 T A 7: 108,317,518 V208E probably benign Het
Osbpl1a G A 18: 12,766,824 T178I probably damaging Het
Pcca A T 14: 122,690,145 Y440F probably benign Het
Pclo T C 5: 14,678,535 probably benign Het
Piwil1 T C 5: 128,749,973 M599T possibly damaging Het
Pkd1l2 T A 8: 117,080,732 Y189F possibly damaging Het
Plscr3 A G 11: 69,847,682 K91R possibly damaging Het
Rars A T 11: 35,808,553 C638S probably damaging Het
Relb T A 7: 19,611,694 H406L probably benign Het
Ros1 G T 10: 52,101,803 T1449K possibly damaging Het
Samd3 A T 10: 26,270,169 N364I possibly damaging Het
Scn2a T A 2: 65,751,934 I1542N probably damaging Het
Sdk1 T A 5: 142,185,175 M1931K probably benign Het
Sphk2 T C 7: 45,711,653 D309G possibly damaging Het
Stil T C 4: 115,032,789 S825P probably damaging Het
Swt1 C T 1: 151,394,608 probably null Het
Virma C T 4: 11,527,792 R1228C probably damaging Het
Xirp2 T A 2: 67,508,502 H362Q probably benign Het
Zfp451 C A 1: 33,762,166 M1056I probably benign Het
Zfp458 T A 13: 67,257,236 M380L probably benign Het
Other mutations in Palld
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Palld APN 8 61515935 missense possibly damaging 0.77
IGL01083:Palld APN 8 61538807 missense probably benign 0.44
IGL01644:Palld APN 8 61877478 missense probably benign 0.28
IGL01941:Palld APN 8 61535700 missense probably benign 0.44
IGL02037:Palld APN 8 61525114 missense probably damaging 1.00
IGL02126:Palld APN 8 61877442 missense possibly damaging 0.82
IGL02537:Palld APN 8 61684934 missense probably benign 0.05
IGL02632:Palld APN 8 61515245 missense probably damaging 1.00
IGL02809:Palld APN 8 61515247 missense probably damaging 1.00
IGL02901:Palld APN 8 61876995 nonsense probably null
IGL03400:Palld APN 8 61513455 missense probably damaging 1.00
R0098:Palld UTSW 8 61525086 missense probably damaging 1.00
R0098:Palld UTSW 8 61525086 missense probably damaging 1.00
R0745:Palld UTSW 8 61877703 missense probably damaging 1.00
R1263:Palld UTSW 8 61513457 frame shift probably null
R1342:Palld UTSW 8 61522882 critical splice donor site probably null
R1893:Palld UTSW 8 61516621 missense probably damaging 1.00
R2017:Palld UTSW 8 61684765 missense probably damaging 0.99
R2102:Palld UTSW 8 61533433 missense possibly damaging 0.82
R2129:Palld UTSW 8 61877361 missense probably benign 0.00
R2246:Palld UTSW 8 61877135 missense probably benign 0.01
R3545:Palld UTSW 8 61550078 missense possibly damaging 0.95
R3815:Palld UTSW 8 61549837 intron probably benign
R3824:Palld UTSW 8 61709033 missense probably damaging 1.00
R4412:Palld UTSW 8 61687372 missense probably damaging 0.98
R4781:Palld UTSW 8 61877028 missense probably benign 0.01
R4836:Palld UTSW 8 61687381 missense probably benign 0.11
R4871:Palld UTSW 8 61549781 intron probably benign
R4963:Palld UTSW 8 61703210 missense probably damaging 1.00
R5036:Palld UTSW 8 61550162 missense probably damaging 1.00
R5128:Palld UTSW 8 61720588 missense probably damaging 1.00
R5343:Palld UTSW 8 61549815 intron probably benign
R5421:Palld UTSW 8 61516550 missense probably damaging 1.00
R5427:Palld UTSW 8 61550072 missense probably benign 0.01
R5561:Palld UTSW 8 61516585 missense probably damaging 1.00
R5651:Palld UTSW 8 61538788 missense probably damaging 1.00
R5679:Palld UTSW 8 61684945 missense possibly damaging 0.95
R5915:Palld UTSW 8 61533352 critical splice donor site probably null
R6153:Palld UTSW 8 61550152 missense probably damaging 1.00
R6276:Palld UTSW 8 61513423 missense probably damaging 1.00
R6323:Palld UTSW 8 61720693 missense probably damaging 1.00
R6659:Palld UTSW 8 61533443 missense probably benign 0.28
R7016:Palld UTSW 8 61515998 missense probably damaging 1.00
R7124:Palld UTSW 8 61516645 missense unknown
R7145:Palld UTSW 8 61532017 missense unknown
Posted On2014-01-21