Incidental Mutation 'IGL02882:Plekhd1'
ID362859
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekhd1
Ensembl Gene ENSMUSG00000066438
Gene Namepleckstrin homology domain containing, family D (with coiled-coil domains) member 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL02882
Quality Score
Status
Chromosome12
Chromosomal Location80692591-80724214 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 80719007 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140770]
Predicted Effect probably null
Transcript: ENSMUST00000140770
SMART Domains Protein: ENSMUSP00000119711
Gene: ENSMUSG00000066438

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
PH 29 138 9.19e-13 SMART
coiled coil region 146 392 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153762
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A T 9: 44,277,489 L469* probably null Het
Calr3 T A 8: 72,434,821 Y46F probably damaging Het
Clcn4 A G 7: 7,290,465 C491R probably damaging Het
Col6a5 G T 9: 105,934,321 D666E unknown Het
D130052B06Rik G A 11: 33,623,780 V126M probably damaging Het
Ddx27 A G 2: 167,027,913 I389M possibly damaging Het
Dgka T C 10: 128,733,384 I160V possibly damaging Het
E430018J23Rik A G 7: 127,392,252 Y188H probably damaging Het
Enpp6 T C 8: 47,030,532 S120P probably damaging Het
Ezh1 A G 11: 101,203,289 I459T probably benign Het
Fam91a1 A G 15: 58,453,061 probably benign Het
Foxn2 T C 17: 88,462,947 L74P probably damaging Het
Fscn2 T C 11: 120,362,499 V264A probably benign Het
Gmeb2 G A 2: 181,265,883 T54I probably damaging Het
Hmcn2 A T 2: 31,413,367 K3007* probably null Het
Ice1 A T 13: 70,624,474 probably benign Het
Lgi1 A G 19: 38,284,005 D84G probably benign Het
Mier2 T C 10: 79,547,721 I196V probably damaging Het
Nipal2 T C 15: 34,600,077 Y198C probably damaging Het
Npas2 A C 1: 39,312,996 S176R probably benign Het
Olfr914 A T 9: 38,606,938 I158F probably benign Het
Pam A C 1: 97,840,367 C713G probably damaging Het
Pcdh17 C A 14: 84,446,661 D189E probably damaging Het
Pcdhb8 T A 18: 37,356,223 I318N possibly damaging Het
Pcyt2 A G 11: 120,611,407 S300P possibly damaging Het
Pkdrej A G 15: 85,817,296 S1480P probably damaging Het
Plxna2 A T 1: 194,762,570 S757C probably damaging Het
Prkdc A T 16: 15,651,519 K163* probably null Het
Serpina3f A T 12: 104,217,004 T42S probably damaging Het
Sesn2 T C 4: 132,493,793 N456D probably benign Het
Tas2r105 A T 6: 131,687,180 L95Q possibly damaging Het
Tln1 A G 4: 43,539,522 V1600A probably benign Het
Zfp808 A G 13: 62,173,180 K741R probably benign Het
Other mutations in Plekhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0377:Plekhd1 UTSW 12 80706436 splice site probably benign
R0462:Plekhd1 UTSW 12 80721578 missense probably damaging 1.00
R0626:Plekhd1 UTSW 12 80717301 missense probably damaging 1.00
R1125:Plekhd1 UTSW 12 80707224 missense possibly damaging 0.83
R1344:Plekhd1 UTSW 12 80692885 missense probably benign
R1418:Plekhd1 UTSW 12 80692885 missense probably benign
R1694:Plekhd1 UTSW 12 80722321 missense possibly damaging 0.90
R2070:Plekhd1 UTSW 12 80692907 nonsense probably null
R2073:Plekhd1 UTSW 12 80721292 missense probably benign 0.19
R2231:Plekhd1 UTSW 12 80721951 missense possibly damaging 0.74
R2326:Plekhd1 UTSW 12 80722099 splice site probably null
R3615:Plekhd1 UTSW 12 80717270 missense probably damaging 1.00
R3616:Plekhd1 UTSW 12 80717270 missense probably damaging 1.00
R4899:Plekhd1 UTSW 12 80722327 missense probably damaging 1.00
R4955:Plekhd1 UTSW 12 80722021 missense possibly damaging 0.54
R5028:Plekhd1 UTSW 12 80692949 missense probably damaging 1.00
R5446:Plekhd1 UTSW 12 80720636 missense probably benign 0.00
R5615:Plekhd1 UTSW 12 80720590 missense probably damaging 1.00
R5648:Plekhd1 UTSW 12 80720588 missense probably damaging 1.00
R5766:Plekhd1 UTSW 12 80722366 missense probably benign
R6534:Plekhd1 UTSW 12 80707257 missense probably damaging 0.99
R7003:Plekhd1 UTSW 12 80721960 missense possibly damaging 0.92
R7615:Plekhd1 UTSW 12 80722445 missense probably benign 0.02
R7656:Plekhd1 UTSW 12 80722160 intron probably null
Posted On2015-12-18