Incidental Mutation 'R5235:Phlda1'
ID 398315
Institutional Source Beutler Lab
Gene Symbol Phlda1
Ensembl Gene ENSMUSG00000020205
Gene Name pleckstrin homology like domain, family A, member 1
Synonyms Tdag, DT1P1B11, TDAG51
MMRRC Submission 042807-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5235 (G1)
Quality Score 138
Status Not validated
Chromosome 10
Chromosomal Location 111342147-111344506 bp(+) (GRCm39)
Type of Mutation small deletion (4 aa in frame mutation)
DNA Base Change (assembly) CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC to CCAGCCCCAACCTCAGCCCCAACC at 111343252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164773]
AlphaFold Q62392
Predicted Effect probably benign
Transcript: ENSMUST00000164773
SMART Domains Protein: ENSMUSP00000132815
Gene: ENSMUSG00000020205

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C A 7: 41,274,256 (GRCm39) H126Q possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aga A G 8: 53,967,361 (GRCm39) H124R probably damaging Het
Ank1 G A 8: 23,572,212 (GRCm39) G49R probably damaging Het
Aox1 G T 1: 58,096,714 (GRCm39) V270L possibly damaging Het
Arfrp1 T C 2: 181,001,298 (GRCm39) H145R probably benign Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atg3 A G 16: 44,979,520 (GRCm39) T20A probably benign Het
C3ar1 A G 6: 122,827,881 (GRCm39) L112P probably damaging Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Csmd3 T C 15: 47,492,674 (GRCm39) T3156A probably benign Het
Dag1 T C 9: 108,084,897 (GRCm39) Y748C probably damaging Het
Dek A T 13: 47,239,955 (GRCm39) probably null Het
Fras1 G A 5: 96,748,609 (GRCm39) V695M probably benign Het
Gpx7 A G 4: 108,258,189 (GRCm39) S135P probably damaging Het
Ido2 A T 8: 25,037,202 (GRCm39) I168N probably damaging Het
Lca5 A T 9: 83,305,107 (GRCm39) L233* probably null Het
Liph A C 16: 21,802,785 (GRCm39) L95V probably damaging Het
Mast1 A T 8: 85,640,068 (GRCm39) L1113Q probably damaging Het
Nlrx1 C T 9: 44,175,047 (GRCm39) G243D probably damaging Het
Or4ac1-ps1 G A 2: 88,370,769 (GRCm39) noncoding transcript Het
Or5d40 T A 2: 88,015,912 (GRCm39) D230E probably benign Het
Otoa T C 7: 120,755,693 (GRCm39) L1033P probably damaging Het
Ovol3 A T 7: 29,932,899 (GRCm39) Y179N possibly damaging Het
Papss2 A G 19: 32,616,619 (GRCm39) N215S probably benign Het
Pcdhga8 T C 18: 37,860,488 (GRCm39) Y515H probably damaging Het
Scn2a A T 2: 65,582,355 (GRCm39) N1568Y probably damaging Het
Sec16b A T 1: 157,362,334 (GRCm39) I251F probably benign Het
Slc29a4 T A 5: 142,704,523 (GRCm39) I355N probably damaging Het
Snx29 G T 16: 11,231,110 (GRCm39) C39F possibly damaging Het
Spata16 A G 3: 26,721,781 (GRCm39) M101V probably benign Het
Stat2 T C 10: 128,126,901 (GRCm39) probably null Het
Tdpoz8 A G 3: 92,981,393 (GRCm39) D137G probably damaging Het
Tnrc6c G T 11: 117,651,555 (GRCm39) V1693F probably benign Het
Tpm3 A G 3: 89,993,802 (GRCm39) E97G probably damaging Het
Ugt8a A C 3: 125,661,129 (GRCm39) H454Q probably damaging Het
Vmn2r27 T A 6: 124,169,013 (GRCm39) I706L probably damaging Het
Wdfy3 T C 5: 101,994,972 (GRCm39) I3256V probably null Het
Other mutations in Phlda1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02197:Phlda1 APN 10 111,343,014 (GRCm39) missense probably damaging 1.00
R1837:Phlda1 UTSW 10 111,343,092 (GRCm39) missense probably benign 0.34
R2212:Phlda1 UTSW 10 111,343,029 (GRCm39) missense probably damaging 1.00
R4824:Phlda1 UTSW 10 111,343,516 (GRCm39) splice site probably benign
R5043:Phlda1 UTSW 10 111,343,152 (GRCm39) missense unknown
R6751:Phlda1 UTSW 10 111,342,555 (GRCm39) missense possibly damaging 0.80
R9092:Phlda1 UTSW 10 111,342,474 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- CGAGATCACGTTGCAGATGGTG -3'
(R):5'- AGGACCTTACCTTGAGTGGC -3'

Sequencing Primer
(F):5'- TGGTGCAGTACAAAAATCGCC -3'
(R):5'- CCTCTTCAGGCAGAGTTGGAG -3'
Posted On 2016-07-06