Incidental Mutation 'R5235:Phlda1'
ID398315
Institutional Source Beutler Lab
Gene Symbol Phlda1
Ensembl Gene ENSMUSG00000020205
Gene Namepleckstrin homology like domain, family A, member 1
SynonymsDT1P1B11, TDAG51, Tdag
MMRRC Submission 042807-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5235 (G1)
Quality Score138
Status Not validated
Chromosome10
Chromosomal Location111506286-111508645 bp(+) (GRCm38)
Type of Mutationsmall deletion (4 aa in frame mutation)
DNA Base Change (assembly) CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC to CCAGCCCCAACCTCAGCCCCAACC at 111507391 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164773]
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: 41,624,832 H126Q possibly damaging Het
Acot11 C T 4: 106,760,130 G240R probably damaging Het
Aga A G 8: 53,514,326 H124R probably damaging Het
Ank1 G A 8: 23,082,196 G49R probably damaging Het
Aox1 G T 1: 58,057,555 V270L possibly damaging Het
Arfrp1 T C 2: 181,359,505 H145R probably benign Het
Atg14 G A 14: 47,568,199 R70C probably damaging Het
Atg3 A G 16: 45,159,157 T20A probably benign Het
C3ar1 A G 6: 122,850,922 L112P probably damaging Het
Clip2 G A 5: 134,522,791 T159M possibly damaging Het
Csmd3 T C 15: 47,629,278 T3156A probably benign Het
Dag1 T C 9: 108,207,698 Y748C probably damaging Het
Dek A T 13: 47,086,479 probably null Het
Fras1 G A 5: 96,600,750 V695M probably benign Het
Gm4858 A G 3: 93,074,086 D137G probably damaging Het
Gpx7 A G 4: 108,400,992 S135P probably damaging Het
Ido2 A T 8: 24,547,186 I168N probably damaging Het
Lca5 A T 9: 83,423,054 L233* probably null Het
Liph A C 16: 21,984,035 L95V probably damaging Het
Mast1 A T 8: 84,913,439 L1113Q probably damaging Het
Nlrx1 C T 9: 44,263,750 G243D probably damaging Het
Olfr1168 T A 2: 88,185,568 D230E probably benign Het
Olfr1187-ps1 G A 2: 88,540,425 noncoding transcript Het
Otoa T C 7: 121,156,470 L1033P probably damaging Het
Ovol3 A T 7: 30,233,474 Y179N possibly damaging Het
Papss2 A G 19: 32,639,219 N215S probably benign Het
Pcdhga8 T C 18: 37,727,435 Y515H probably damaging Het
Scn2a A T 2: 65,752,011 N1568Y probably damaging Het
Sec16b A T 1: 157,534,764 I251F probably benign Het
Slc29a4 T A 5: 142,718,768 I355N probably damaging Het
Snx29 G T 16: 11,413,246 C39F possibly damaging Het
Spata16 A G 3: 26,667,632 M101V probably benign Het
Stat2 T C 10: 128,291,032 probably null Het
Tnrc6c G T 11: 117,760,729 V1693F probably benign Het
Tpm3 A G 3: 90,086,495 E97G probably damaging Het
Ugt8a A C 3: 125,867,480 H454Q probably damaging Het
Vmn2r27 T A 6: 124,192,054 I706L probably damaging Het
Wdfy3 T C 5: 101,847,106 I3256V probably null 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
R5043:Phlda1 UTSW 10 111507291 missense unknown
R6751:Phlda1 UTSW 10 111506694 missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- CGAGATCACGTTGCAGATGGTG -3'
(R):5'- AGGACCTTACCTTGAGTGGC -3'

Sequencing Primer
(F):5'- TGGTGCAGTACAAAAATCGCC -3'
(R):5'- CCTCTTCAGGCAGAGTTGGAG -3'
Posted On2016-07-06