Incidental Mutation 'R5043:Phlda1'
ID 393310
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 042633-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5043 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 111342147-111344506 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111343152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 296 (L296Q)
Ref Sequence ENSEMBL: ENSMUSP00000132815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164773]
AlphaFold Q62392
Predicted Effect unknown
Transcript: ENSMUST00000164773
AA Change: L296Q
SMART Domains Protein: ENSMUSP00000132815
Gene: ENSMUSG00000020205
AA Change: L296Q

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
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: 144,980,910 (GRCm39) Y106* probably null Het
Acsbg3 A G 17: 57,192,198 (GRCm39) Y587C probably damaging Het
Akap12 G C 10: 4,305,047 (GRCm39) G619A probably damaging Het
Arhgap29 A G 3: 121,767,653 (GRCm39) K32E probably benign Het
Capg T A 6: 72,535,237 (GRCm39) Y253* probably null Het
Cntnap3 A T 13: 64,942,162 (GRCm39) F189L probably damaging Het
Cp T C 3: 20,028,081 (GRCm39) S496P probably benign Het
Cxcl11 T C 5: 92,511,011 (GRCm39) probably null Het
Dennd3 T C 15: 73,399,785 (GRCm39) L217P probably benign Het
Dip2c G T 13: 9,601,863 (GRCm39) R274L possibly damaging Het
Dnah12 C T 14: 26,606,147 (GRCm39) S3776L probably damaging Het
Emcn A G 3: 137,097,362 (GRCm39) T94A possibly damaging Het
Fnip2 A T 3: 79,400,174 (GRCm39) Y397* probably null Het
Gabrp T C 11: 33,518,072 (GRCm39) N79D probably benign Het
Glmp T G 3: 88,233,983 (GRCm39) probably benign Het
Gm5921 C T 9: 115,267,087 (GRCm39) noncoding transcript Het
Gm6483 A G 8: 19,743,686 (GRCm39) T104A probably benign Het
Ifi206 A T 1: 173,314,284 (GRCm39) M52K probably damaging Het
Iqcc T C 4: 129,512,070 (GRCm39) probably benign Het
Klra2 T A 6: 131,197,135 (GRCm39) H288L probably benign Het
Myo5b T C 18: 74,771,224 (GRCm39) probably null Het
Nisch A G 14: 30,898,422 (GRCm39) probably benign Het
Nlrp4c A G 7: 6,069,824 (GRCm39) N575S probably benign Het
Or1n2 A C 2: 36,796,977 (GRCm39) R6S probably benign Het
Or8b49 A G 9: 38,506,137 (GRCm39) I207V probably damaging Het
Pramel19 T C 4: 101,797,721 (GRCm39) F40L possibly damaging Het
Rab36 G A 10: 74,886,837 (GRCm39) E182K probably benign Het
Rasa3 G A 8: 13,620,368 (GRCm39) T767M possibly damaging Het
Serpinb11 G A 1: 107,297,195 (GRCm39) V24M probably damaging Het
Slc7a14 T G 3: 31,291,615 (GRCm39) N221T probably damaging Het
Smg6 T C 11: 74,820,721 (GRCm39) S331P possibly damaging Het
Snx1 C T 9: 66,004,718 (GRCm39) A183T probably benign Het
Srpk2 T C 5: 23,729,515 (GRCm39) T375A probably benign Het
Tecpr1 T C 5: 144,134,672 (GRCm39) probably null Het
Topaz1 A T 9: 122,577,469 (GRCm39) E126D probably benign Het
Ugt2b1 C G 5: 87,065,503 (GRCm39) C512S possibly damaging Het
Ugt2b37 C T 5: 87,399,719 (GRCm39) W263* probably null Het
Utp20 A T 10: 88,634,608 (GRCm39) M750K possibly damaging Het
Yeats2 A T 16: 20,027,215 (GRCm39) Q822L probably damaging Het
Zfp609 T C 9: 65,608,109 (GRCm39) Y1257C probably damaging 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
R5235:Phlda1 UTSW 10 111,343,252 (GRCm39) small deletion probably benign
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'- AGACTGTAGACTGCGTGGAG -3'
(R):5'- CTCTTCAGGCAGAGTTGGAG -3'

Sequencing Primer
(F):5'- GCGCAAGGGCAAGTACATGTAC -3'
(R):5'- TGAAGAGGCTGGTGCGC -3'
Posted On 2016-06-15