Incidental Mutation 'R6775:Phf11b'
ID 532340
Institutional Source Beutler Lab
Gene Symbol Phf11b
Ensembl Gene ENSMUSG00000091649
Gene Name PHD finger protein 11B
Synonyms Gm4902
MMRRC Submission 044891-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R6775 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 59558413-59578800 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59576094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 47 (N47K)
Ref Sequence ENSEMBL: ENSMUSP00000127857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166121]
AlphaFold B4XVQ1
Predicted Effect probably benign
Transcript: ENSMUST00000166121
AA Change: N47K

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000127857
Gene: ENSMUSG00000091649
AA Change: N47K

DomainStartEndE-ValueType
PHD 92 143 1.55e-1 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 G A 13: 104,450,160 (GRCm39) V289M probably damaging Het
Atp10b A G 11: 43,113,040 (GRCm39) D862G possibly damaging Het
Ccn6 T C 10: 39,027,351 (GRCm39) T294A probably damaging Het
Colec10 A G 15: 54,298,419 (GRCm39) E60G possibly damaging Het
Cpne1 A G 2: 155,920,340 (GRCm39) V179A probably damaging Het
Galnt9 G A 5: 110,768,465 (GRCm39) R587H probably damaging Het
Gmip A G 8: 70,268,285 (GRCm39) D423G possibly damaging Het
Ints15 C A 5: 143,297,493 (GRCm39) V185L probably benign Het
Klk1b24 A G 7: 43,840,889 (GRCm39) M106V probably benign Het
Or14c39 A G 7: 86,344,357 (GRCm39) E231G probably benign Het
Or7g30 A T 9: 19,352,718 (GRCm39) T170S possibly damaging Het
Or8k40 G A 2: 86,584,921 (GRCm39) R54C probably damaging Het
Orc1 T A 4: 108,460,652 (GRCm39) F496I probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Plscr4 G A 9: 92,364,858 (GRCm39) M94I probably benign Het
Ppip5k2 A T 1: 97,647,585 (GRCm39) V1047E possibly damaging Het
Scn3a A G 2: 65,352,159 (GRCm39) Y384H possibly damaging Het
Sgpp1 G C 12: 75,782,243 (GRCm39) P32R probably benign Het
Smc1b T C 15: 84,973,881 (GRCm39) E925G probably damaging Het
Sorl1 A G 9: 42,003,748 (GRCm39) Y183H possibly damaging Het
Tarbp1 A C 8: 127,163,568 (GRCm39) D1151E probably benign Het
Vmn2r3 T C 3: 64,183,039 (GRCm39) H220R possibly damaging Het
Wdr5 A G 2: 27,423,386 (GRCm39) Y260C probably damaging Het
Other mutations in Phf11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00560:Phf11b APN 14 59,562,324 (GRCm39) missense probably damaging 1.00
IGL01116:Phf11b APN 14 59,560,631 (GRCm39) missense probably benign 0.02
IGL01446:Phf11b APN 14 59,578,740 (GRCm39) missense probably benign 0.02
IGL02224:Phf11b APN 14 59,563,515 (GRCm39) splice site probably benign
IGL03062:Phf11b APN 14 59,562,373 (GRCm39) missense probably damaging 1.00
PIT4131001:Phf11b UTSW 14 59,560,611 (GRCm39) splice site probably benign
R1795:Phf11b UTSW 14 59,565,554 (GRCm39) missense probably benign 0.00
R3774:Phf11b UTSW 14 59,563,506 (GRCm39) missense probably benign 0.45
R4553:Phf11b UTSW 14 59,578,734 (GRCm39) missense probably benign 0.10
R5460:Phf11b UTSW 14 59,568,713 (GRCm39) missense probably benign 0.01
R5620:Phf11b UTSW 14 59,558,953 (GRCm39) missense probably benign 0.01
R5985:Phf11b UTSW 14 59,559,027 (GRCm39) missense possibly damaging 0.52
R5990:Phf11b UTSW 14 59,562,375 (GRCm39) missense possibly damaging 0.57
R6836:Phf11b UTSW 14 59,565,572 (GRCm39) missense possibly damaging 0.81
R7197:Phf11b UTSW 14 59,563,507 (GRCm39) missense probably benign 0.06
R7953:Phf11b UTSW 14 59,568,722 (GRCm39) missense probably benign 0.35
R8043:Phf11b UTSW 14 59,568,722 (GRCm39) missense probably benign 0.35
R8229:Phf11b UTSW 14 59,568,730 (GRCm39) missense probably damaging 1.00
R8319:Phf11b UTSW 14 59,576,146 (GRCm39) missense probably damaging 1.00
R9585:Phf11b UTSW 14 59,568,704 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AACTCAAAGGCCCTCTGTGC -3'
(R):5'- TAAGAACAGGGCCTCGTCTG -3'

Sequencing Primer
(F):5'- AAAGGCCCTCTGTGCATGGAC -3'
(R):5'- GGGCCTCGTCTGCTCCTTTAAG -3'
Posted On 2018-08-29