Incidental Mutation 'R1633:Phldb1'
ID 172922
Institutional Source Beutler Lab
Gene Symbol Phldb1
Ensembl Gene ENSMUSG00000048537
Gene Name pleckstrin homology like domain, family B, member 1
Synonyms D330037A14Rik, LL5A
MMRRC Submission 039670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R1633 (G1)
Quality Score 206
Status Validated
Chromosome 9
Chromosomal Location 44597601-44646495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44629619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 25 (I25F)
Ref Sequence ENSEMBL: ENSMUSP00000114257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034611] [ENSMUST00000123406] [ENSMUST00000134465] [ENSMUST00000138356] [ENSMUST00000147495] [ENSMUST00000148929]
AlphaFold Q6PDH0
Predicted Effect probably benign
Transcript: ENSMUST00000034611
AA Change: I145F

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: I145F

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 3e-10 PDB
Blast:FHA 63 110 6e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 5.01e-5 PROSPERO
internal_repeat_1 401 449 5.01e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 943 961 N/A INTRINSIC
low complexity region 976 997 N/A INTRINSIC
low complexity region 1055 1069 N/A INTRINSIC
low complexity region 1103 1111 N/A INTRINSIC
coiled coil region 1150 1219 N/A INTRINSIC
PH 1262 1366 1.31e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000123406
AA Change: I25F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114257
Gene: ENSMUSG00000048537
AA Change: I25F

DomainStartEndE-ValueType
low complexity region 61 72 N/A INTRINSIC
low complexity region 132 153 N/A INTRINSIC
low complexity region 176 196 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126818
Predicted Effect probably benign
Transcript: ENSMUST00000128326
SMART Domains Protein: ENSMUSP00000119966
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
low complexity region 83 110 N/A INTRINSIC
low complexity region 187 200 N/A INTRINSIC
coiled coil region 207 290 N/A INTRINSIC
low complexity region 312 322 N/A INTRINSIC
coiled coil region 357 396 N/A INTRINSIC
low complexity region 422 443 N/A INTRINSIC
low complexity region 493 506 N/A INTRINSIC
low complexity region 516 530 N/A INTRINSIC
low complexity region 564 572 N/A INTRINSIC
coiled coil region 610 679 N/A INTRINSIC
PH 723 827 1.31e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134465
AA Change: I145F

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: I145F

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 3e-10 PDB
Blast:FHA 63 110 8e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 6.75e-5 PROSPERO
internal_repeat_1 401 449 6.75e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 929 950 N/A INTRINSIC
low complexity region 1008 1022 N/A INTRINSIC
low complexity region 1056 1064 N/A INTRINSIC
coiled coil region 1103 1172 N/A INTRINSIC
PH 1215 1319 1.31e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138356
AA Change: I145F

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: I145F

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 4e-10 PDB
Blast:FHA 63 110 6e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 4.93e-5 PROSPERO
internal_repeat_1 401 449 4.93e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 931 948 N/A INTRINSIC
low complexity region 999 1017 N/A INTRINSIC
low complexity region 1032 1053 N/A INTRINSIC
low complexity region 1111 1125 N/A INTRINSIC
low complexity region 1159 1167 N/A INTRINSIC
coiled coil region 1206 1286 N/A INTRINSIC
PH 1329 1444 6.01e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147495
AA Change: I145F

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: I145F

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 4e-10 PDB
Blast:FHA 63 110 6e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 5e-5 PROSPERO
internal_repeat_1 401 449 5e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 943 961 N/A INTRINSIC
low complexity region 976 997 N/A INTRINSIC
low complexity region 1055 1069 N/A INTRINSIC
low complexity region 1103 1111 N/A INTRINSIC
coiled coil region 1150 1219 N/A INTRINSIC
PH 1262 1377 6.01e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000148929
AA Change: I25F

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114533
Gene: ENSMUSG00000048537
AA Change: I25F

DomainStartEndE-ValueType
low complexity region 61 72 N/A INTRINSIC
low complexity region 132 153 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214717
Predicted Effect probably benign
Transcript: ENSMUST00000148344
SMART Domains Protein: ENSMUSP00000121809
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 41 61 N/A INTRINSIC
internal_repeat_1 66 99 6.7e-6 PROSPERO
internal_repeat_1 146 194 6.7e-6 PROSPERO
low complexity region 204 222 N/A INTRINSIC
low complexity region 335 362 N/A INTRINSIC
low complexity region 439 452 N/A INTRINSIC
coiled coil region 459 542 N/A INTRINSIC
low complexity region 564 574 N/A INTRINSIC
coiled coil region 609 648 N/A INTRINSIC
low complexity region 688 706 N/A INTRINSIC
low complexity region 721 742 N/A INTRINSIC
low complexity region 792 805 N/A INTRINSIC
low complexity region 815 829 N/A INTRINSIC
low complexity region 863 871 N/A INTRINSIC
coiled coil region 909 978 N/A INTRINSIC
PH 1022 1126 1.31e-17 SMART
Meta Mutation Damage Score 0.0599 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 93.9%
  • 20x: 83.9%
Validation Efficiency 94% (68/72)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd C T 1: 127,681,592 (GRCm39) A185V probably benign Het
Acsl6 T C 11: 54,219,224 (GRCm39) probably benign Het
Arel1 A G 12: 84,973,057 (GRCm39) F580S probably damaging Het
Arhgef19 T C 4: 140,965,871 (GRCm39) probably benign Het
Bpifb3 T A 2: 153,764,504 (GRCm39) L132Q probably damaging Het
Cacna2d1 T A 5: 16,525,114 (GRCm39) D516E probably damaging Het
Ccar1 T C 10: 62,586,793 (GRCm39) R882G unknown Het
Cep162 T C 9: 87,085,736 (GRCm39) E1196G probably benign Het
Cpt1b T C 15: 89,303,018 (GRCm39) T649A probably damaging Het
Cttnbp2 A T 6: 18,435,166 (GRCm39) S231T probably damaging Het
Dock8 A G 19: 25,028,927 (GRCm39) T44A probably benign Het
Edrf1 T C 7: 133,253,869 (GRCm39) S536P probably damaging Het
Eif5 T A 12: 111,506,721 (GRCm39) N104K probably damaging Het
Enpp3 T C 10: 24,671,680 (GRCm39) Y438C probably damaging Het
Ess2 A G 16: 17,727,831 (GRCm39) V116A probably benign Het
Galnt4 T C 10: 98,945,814 (GRCm39) V513A possibly damaging Het
Gdpd5 T C 7: 99,097,720 (GRCm39) I172T probably benign Het
Ggt7 C T 2: 155,344,608 (GRCm39) G245D probably damaging Het
Gm5884 A T 6: 128,623,028 (GRCm39) noncoding transcript Het
Herc2 G A 7: 55,879,117 (GRCm39) G4669R probably null Het
Hydin T A 8: 111,233,614 (GRCm39) D1817E probably benign Het
Igf2r A C 17: 12,945,196 (GRCm39) N359K probably benign Het
Itgb4 T C 11: 115,898,586 (GRCm39) F1722L probably damaging Het
Itih3 T A 14: 30,639,355 (GRCm39) E406V possibly damaging Het
Lamc2 A T 1: 153,017,444 (GRCm39) C514* probably null Het
Mepe G T 5: 104,485,540 (GRCm39) V227F probably benign Het
Nadk C T 4: 155,661,642 (GRCm39) T56I probably damaging Het
Nedd4 G A 9: 72,578,539 (GRCm39) V84I possibly damaging Het
Nipal3 C A 4: 135,174,659 (GRCm39) R364L probably benign Het
Nkx2-9 T C 12: 56,659,766 (GRCm39) R27G probably benign Het
Noc2l T A 4: 156,329,750 (GRCm39) S600T probably benign Het
Or1l4b T A 2: 37,036,983 (GRCm39) I253N probably damaging Het
Or1o3 T A 17: 37,574,553 (GRCm39) M1L probably benign Het
Or2c1 A C 16: 3,657,396 (GRCm39) K186N probably damaging Het
Pax6 A T 2: 105,522,063 (GRCm39) E240V probably damaging Het
Pdilt T G 7: 119,087,217 (GRCm39) T478P probably damaging Het
Rad50 C T 11: 53,583,686 (GRCm39) R365Q probably benign Het
Rdh10 A G 1: 16,198,420 (GRCm39) E186G possibly damaging Het
Rdh12 A T 12: 79,265,498 (GRCm39) E224V probably damaging Het
Reck T C 4: 43,922,964 (GRCm39) V413A possibly damaging Het
Scn8a A G 15: 100,927,696 (GRCm39) I1392V probably benign Het
Simc1 G A 13: 54,673,044 (GRCm39) G464D probably benign Het
Srf A T 17: 46,862,534 (GRCm39) V318E probably damaging Het
Stab1 T C 14: 30,872,337 (GRCm39) probably null Het
Stk3 T C 15: 34,959,206 (GRCm39) D322G probably damaging Het
Stxbp4 A G 11: 90,430,986 (GRCm39) probably benign Het
Sult2a1 A G 7: 13,535,351 (GRCm39) I234T probably benign Het
Syne1 A G 10: 5,299,388 (GRCm39) F956L probably damaging Het
Tasor2 A T 13: 3,631,771 (GRCm39) I910N possibly damaging Het
Thsd7a G T 6: 12,471,103 (GRCm39) S505* probably null Het
Tmem63a T A 1: 180,776,391 (GRCm39) V67E probably damaging Het
Tram2 A T 1: 21,074,146 (GRCm39) V264E probably damaging Het
Trpv5 A T 6: 41,652,854 (GRCm39) C106* probably null Het
Tspyl5 T A 15: 33,686,791 (GRCm39) K385* probably null Het
Vezt T A 10: 93,820,138 (GRCm39) Q409L probably damaging Het
Vmn2r79 T C 7: 86,687,042 (GRCm39) C808R possibly damaging Het
Wdfy3 A C 5: 102,129,414 (GRCm39) V4G probably damaging Het
Wdr95 A T 5: 149,516,637 (GRCm39) I493F probably damaging Het
Zfhx4 A T 3: 5,465,473 (GRCm39) N1877I probably damaging Het
Zfp180 A G 7: 23,804,226 (GRCm39) D215G probably benign Het
Zfp442 A T 2: 150,250,260 (GRCm39) Y490* probably null Het
Zfp804b A G 5: 7,229,513 (GRCm39) probably benign Het
Other mutations in Phldb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00549:Phldb1 APN 9 44,622,443 (GRCm39) critical splice donor site probably null
IGL01089:Phldb1 APN 9 44,619,184 (GRCm39) nonsense probably null
IGL01374:Phldb1 APN 9 44,607,464 (GRCm39) missense probably damaging 0.98
IGL01654:Phldb1 APN 9 44,629,654 (GRCm39) splice site probably null
IGL02148:Phldb1 APN 9 44,607,369 (GRCm39) missense probably damaging 0.99
IGL02408:Phldb1 APN 9 44,627,203 (GRCm39) missense possibly damaging 0.50
IGL02429:Phldb1 APN 9 44,612,247 (GRCm39) missense probably damaging 1.00
IGL02440:Phldb1 APN 9 44,626,700 (GRCm39) missense probably damaging 0.99
IGL02457:Phldb1 APN 9 44,627,771 (GRCm39) missense probably benign 0.00
IGL02471:Phldb1 APN 9 44,622,530 (GRCm39) missense probably damaging 1.00
IGL02506:Phldb1 APN 9 44,622,223 (GRCm39) missense probably benign 0.00
IGL03335:Phldb1 APN 9 44,639,366 (GRCm39) missense possibly damaging 0.95
PIT4515001:Phldb1 UTSW 9 44,627,257 (GRCm39) missense probably benign 0.00
R0070:Phldb1 UTSW 9 44,619,201 (GRCm39) missense probably damaging 1.00
R0117:Phldb1 UTSW 9 44,623,003 (GRCm39) start codon destroyed probably null
R0344:Phldb1 UTSW 9 44,612,964 (GRCm39) missense probably benign 0.14
R0364:Phldb1 UTSW 9 44,610,632 (GRCm39) splice site probably benign
R0622:Phldb1 UTSW 9 44,627,149 (GRCm39) missense probably damaging 1.00
R0737:Phldb1 UTSW 9 44,610,933 (GRCm39) missense possibly damaging 0.92
R1449:Phldb1 UTSW 9 44,627,930 (GRCm39) missense probably benign 0.17
R1498:Phldb1 UTSW 9 44,612,915 (GRCm39) missense possibly damaging 0.70
R1647:Phldb1 UTSW 9 44,626,730 (GRCm39) missense probably damaging 1.00
R1692:Phldb1 UTSW 9 44,626,717 (GRCm39) missense probably damaging 1.00
R1749:Phldb1 UTSW 9 44,627,045 (GRCm39) missense probably damaging 1.00
R1797:Phldb1 UTSW 9 44,627,842 (GRCm39) missense probably damaging 0.99
R2012:Phldb1 UTSW 9 44,639,333 (GRCm39) missense possibly damaging 0.67
R2078:Phldb1 UTSW 9 44,619,276 (GRCm39) missense probably damaging 1.00
R2208:Phldb1 UTSW 9 44,607,428 (GRCm39) missense probably damaging 1.00
R2567:Phldb1 UTSW 9 44,637,322 (GRCm39) missense probably damaging 0.99
R2696:Phldb1 UTSW 9 44,629,585 (GRCm39) missense probably damaging 1.00
R3705:Phldb1 UTSW 9 44,605,691 (GRCm39) missense probably damaging 0.97
R4110:Phldb1 UTSW 9 44,627,128 (GRCm39) missense possibly damaging 0.88
R4772:Phldb1 UTSW 9 44,622,324 (GRCm39) missense probably damaging 1.00
R4857:Phldb1 UTSW 9 44,607,389 (GRCm39) missense probably damaging 0.99
R5148:Phldb1 UTSW 9 44,615,455 (GRCm39) missense probably benign 0.04
R5651:Phldb1 UTSW 9 44,623,200 (GRCm39) missense probably damaging 1.00
R5666:Phldb1 UTSW 9 44,627,078 (GRCm39) missense probably damaging 0.97
R5670:Phldb1 UTSW 9 44,627,078 (GRCm39) missense probably damaging 0.97
R5914:Phldb1 UTSW 9 44,622,948 (GRCm39) missense probably damaging 0.97
R6232:Phldb1 UTSW 9 44,607,414 (GRCm39) missense probably damaging 1.00
R6257:Phldb1 UTSW 9 44,607,437 (GRCm39) missense probably damaging 0.99
R6413:Phldb1 UTSW 9 44,607,440 (GRCm39) missense probably damaging 1.00
R6418:Phldb1 UTSW 9 44,623,197 (GRCm39) missense probably damaging 1.00
R6813:Phldb1 UTSW 9 44,610,865 (GRCm39) missense probably damaging 1.00
R6845:Phldb1 UTSW 9 44,627,359 (GRCm39) missense probably damaging 1.00
R7009:Phldb1 UTSW 9 44,605,705 (GRCm39) missense probably damaging 1.00
R7042:Phldb1 UTSW 9 44,605,721 (GRCm39) missense probably damaging 1.00
R7062:Phldb1 UTSW 9 44,607,432 (GRCm39) missense probably damaging 0.99
R7077:Phldb1 UTSW 9 44,623,201 (GRCm39) missense possibly damaging 0.62
R7307:Phldb1 UTSW 9 44,605,344 (GRCm39) missense possibly damaging 0.62
R7995:Phldb1 UTSW 9 44,626,669 (GRCm39) missense probably damaging 1.00
R8108:Phldb1 UTSW 9 44,622,458 (GRCm39) missense probably damaging 1.00
R8433:Phldb1 UTSW 9 44,627,759 (GRCm39) missense probably damaging 1.00
R9151:Phldb1 UTSW 9 44,619,740 (GRCm39) missense probably null 0.01
R9366:Phldb1 UTSW 9 44,622,546 (GRCm39) missense possibly damaging 0.93
R9378:Phldb1 UTSW 9 44,615,425 (GRCm39) missense probably benign 0.01
R9448:Phldb1 UTSW 9 44,622,546 (GRCm39) missense possibly damaging 0.93
R9539:Phldb1 UTSW 9 44,627,482 (GRCm39) missense probably damaging 1.00
R9641:Phldb1 UTSW 9 44,627,839 (GRCm39) missense probably damaging 1.00
RF020:Phldb1 UTSW 9 44,609,243 (GRCm39) missense probably damaging 1.00
X0020:Phldb1 UTSW 9 44,598,974 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCATCGGGATTGTCCTACCCTAAC -3'
(R):5'- CCTATTCTGACTTGTGCCTCGGAAC -3'

Sequencing Primer
(F):5'- GATTGTCCTACCCTAACACTCTGAG -3'
(R):5'- TCAGGACTCTCCATCTGAAATG -3'
Posted On 2014-04-24