Incidental Mutation 'R5043:Phlda1'
Institutional Source Beutler Lab
Gene Symbol Phlda1
Ensembl Gene ENSMUSG00000020205
Gene Namepleckstrin homology like domain, family A, member 1
SynonymsDT1P1B11, TDAG51, Tdag
MMRRC Submission 042633-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5043 (G1)
Quality Score225
Status Validated
Chromosomal Location111506286-111508645 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111507291 bp
Amino Acid Change Leucine to Glutamine at position 296 (L296Q)
Ref Sequence ENSEMBL: ENSMUSP00000132815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164773]
Predicted Effect unknown
Transcript: ENSMUST00000164773
AA Change: L296Q
SMART Domains Protein: ENSMUSP00000132815
Gene: ENSMUSG00000020205
AA Change: L296Q

low complexity region 77 104 N/A INTRINSIC
low complexity region 116 131 N/A INTRINSIC
PH 153 277 7.48e-4 SMART
low complexity region 293 389 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186844
Meta Mutation Damage Score 0.2565 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.4%
Validation Efficiency 98% (44/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and morphologically normal. Relative to wild-type littermates, homozygous null mice display no obvious defects in immune function, Fas expression or T-cell apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 145,044,100 Y106* probably null Het
1700061G19Rik A G 17: 56,885,198 Y587C probably damaging Het
Akap12 G C 10: 4,355,047 G619A probably damaging Het
Arhgap29 A G 3: 121,974,004 K32E probably benign Het
Capg T A 6: 72,558,254 Y253* probably null Het
Cntnap3 A T 13: 64,794,348 F189L probably damaging Het
Cp T C 3: 19,973,917 S496P probably benign Het
Cxcl11 T C 5: 92,363,152 probably null Het
Dennd3 T C 15: 73,527,936 L217P probably benign Het
Dip2c G T 13: 9,551,827 R274L possibly damaging Het
Dnah12 C T 14: 26,884,190 S3776L probably damaging Het
Emcn A G 3: 137,391,601 T94A possibly damaging Het
Fnip2 A T 3: 79,492,867 Y397* probably null Het
Gabrp T C 11: 33,568,072 N79D probably benign Het
Glmp T G 3: 88,326,676 probably benign Het
Gm12794 T C 4: 101,940,524 F40L possibly damaging Het
Gm5921 C T 9: 115,438,019 noncoding transcript Het
Gm6483 A G 8: 19,693,670 T104A probably benign Het
Ifi206 A T 1: 173,486,718 M52K probably damaging Het
Iqcc T C 4: 129,618,277 probably benign Het
Klra2 T A 6: 131,220,172 H288L probably benign Het
Myo5b T C 18: 74,638,153 probably null Het
Nisch A G 14: 31,176,465 probably benign Het
Nlrp4c A G 7: 6,066,825 N575S probably benign Het
Olfr354 A C 2: 36,906,965 R6S probably benign Het
Olfr913 A G 9: 38,594,841 I207V probably damaging Het
Rab36 G A 10: 75,051,005 E182K probably benign Het
Rasa3 G A 8: 13,570,368 T767M possibly damaging Het
Serpinb11 G A 1: 107,369,465 V24M probably damaging Het
Slc7a14 T G 3: 31,237,466 N221T probably damaging Het
Smg6 T C 11: 74,929,895 S331P possibly damaging Het
Snx1 C T 9: 66,097,436 A183T probably benign Het
Srpk2 T C 5: 23,524,517 T375A probably benign Het
Tecpr1 T C 5: 144,197,854 probably null Het
Topaz1 A T 9: 122,748,404 E126D probably benign Het
Ugt2b1 C G 5: 86,917,644 C512S possibly damaging Het
Ugt2b37 C T 5: 87,251,860 W263* probably null Het
Utp20 A T 10: 88,798,746 M750K possibly damaging Het
Yeats2 A T 16: 20,208,465 Q822L probably damaging Het
Zfp609 T C 9: 65,700,827 Y1257C probably damaging Het
Other mutations in Phlda1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02197:Phlda1 APN 10 111507153 missense probably damaging 1.00
R1837:Phlda1 UTSW 10 111507231 missense probably benign 0.34
R2212:Phlda1 UTSW 10 111507168 missense probably damaging 1.00
R4824:Phlda1 UTSW 10 111507655 splice site probably benign
R5235:Phlda1 UTSW 10 111507391 small deletion probably benign
R6751:Phlda1 UTSW 10 111506694 missense possibly damaging 0.80
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-06-15