Incidental Mutation 'R1399:Pwwp4b'
ID 160296
Institutional Source Beutler Lab
Gene Symbol Pwwp4b
Ensembl Gene ENSMUSG00000071745
Gene Name PWWP domain containing 4B
Synonyms DXBay18
MMRRC Submission 039461-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1399 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 72180838-72193056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72182235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 287 (L287P)
Ref Sequence ENSEMBL: ENSMUSP00000079200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080324] [ENSMUST00000179600]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000080324
AA Change: L287P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079200
Gene: ENSMUSG00000071745
AA Change: L287P

DomainStartEndE-ValueType
PDB:3PMI|D 377 508 2e-35 PDB
low complexity region 675 688 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179600
SMART Domains Protein: ENSMUSP00000137006
Gene: ENSMUSG00000058328

DomainStartEndE-ValueType
low complexity region 42 53 N/A INTRINSIC
Pfam:Cor1 76 204 7.4e-24 PFAM
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl5 T C 10: 80,177,042 (GRCm39) S469G probably damaging Het
Ccdc168 G A 1: 44,100,471 (GRCm39) T209I possibly damaging Het
Cep170 C T 1: 176,585,969 (GRCm39) E608K probably damaging Het
Csnk1g3 T C 18: 54,028,982 (GRCm39) V45A probably damaging Het
Eng C A 2: 32,563,334 (GRCm39) Q297K probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
G6pd2 G A 5: 61,967,361 (GRCm39) D379N probably benign Het
Mrc1 C T 2: 14,284,736 (GRCm39) T575M probably damaging Het
Noct C T 3: 51,157,897 (GRCm39) probably null Het
Phka1 A G X: 101,660,964 (GRCm39) S226P probably damaging Het
Pias4 T C 10: 80,991,509 (GRCm39) Y346C probably damaging Het
Ptger4 C T 15: 5,264,412 (GRCm39) E415K possibly damaging Het
Rb1cc1 G A 1: 6,320,042 (GRCm39) V1154I probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Vmn2r121 A C X: 123,039,545 (GRCm39) V541G possibly damaging Het
Zfp92 A T X: 72,466,401 (GRCm39) T465S probably benign Het
Zfp92 A G X: 72,465,736 (GRCm39) H243R probably damaging Het
Predicted Primers PCR Primer
(F):5'- GAAATTTGAACCAGACCAGCGTTCC -3'
(R):5'- TCCAAGCTCAGGTCTTTGAGTGCC -3'

Sequencing Primer
(F):5'- GGTCACCTTTGAATGCACTTG -3'
(R):5'- GTCTTTGAGTGCCCCAGC -3'
Posted On 2014-03-14