Incidental Mutation 'IGL01116:Phf11b'
ID 52699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf11b
Ensembl Gene ENSMUSG00000091649
Gene Name PHD finger protein 11B
Synonyms Gm4902
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL01116
Quality Score
Status
Chromosome 14
Chromosomal Location 59558413-59578800 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59560631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 216 (I216K)
Ref Sequence ENSEMBL: ENSMUSP00000127857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166121]
AlphaFold B4XVQ1
Predicted Effect probably benign
Transcript: ENSMUST00000166121
AA Change: I216K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000127857
Gene: ENSMUSG00000091649
AA Change: I216K

DomainStartEndE-ValueType
PHD 92 143 1.55e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,849,911 (GRCm39) M951L probably benign Het
Als2 T C 1: 59,225,163 (GRCm39) probably benign Het
Arhgap26 T C 18: 39,244,856 (GRCm39) V167A probably damaging Het
Bbs1 A G 19: 4,952,867 (GRCm39) probably benign Het
Capn11 A T 17: 45,949,806 (GRCm39) probably benign Het
Cenpl G T 1: 160,910,857 (GRCm39) S268I possibly damaging Het
Coq8b T C 7: 26,939,282 (GRCm39) V144A possibly damaging Het
Exo1 T A 1: 175,728,963 (GRCm39) C10S possibly damaging Het
Fam193b A T 13: 55,691,266 (GRCm39) S203T probably damaging Het
Ggact T C 14: 123,129,167 (GRCm39) N16S probably damaging Het
Gm3940 A T 1: 52,129,882 (GRCm39) probably benign Het
Gm5458 G T 14: 19,649,760 (GRCm39) L155I probably damaging Het
Golm1 T C 13: 59,797,470 (GRCm39) K125R probably damaging Het
Gpatch4 A G 3: 87,962,312 (GRCm39) E175G probably damaging Het
Gria1 A G 11: 57,127,801 (GRCm39) N337D probably damaging Het
Gripap1 G A X: 7,678,705 (GRCm39) G464D probably benign Het
Grk1 A G 8: 13,455,404 (GRCm39) D96G possibly damaging Het
Hsf1 T C 15: 76,382,403 (GRCm39) V258A probably benign Het
Ighv7-4 A G 12: 114,186,653 (GRCm39) S40P probably damaging Het
Igkv4-50 G A 6: 69,677,921 (GRCm39) S61L probably benign Het
Igkv4-62 C T 6: 69,377,035 (GRCm39) G38E probably damaging Het
Ints1 T C 5: 139,757,437 (GRCm39) D358G probably damaging Het
Madd A G 2: 90,984,888 (GRCm39) probably benign Het
Map3k6 A G 4: 132,974,439 (GRCm39) S580G probably damaging Het
Myef2 A G 2: 124,940,402 (GRCm39) M383T probably damaging Het
Myo3b T C 2: 70,119,730 (GRCm39) L930P probably damaging Het
Ndufaf3 C T 9: 108,444,068 (GRCm39) R20Q probably benign Het
Npr2 T C 4: 43,640,248 (GRCm39) S328P probably damaging Het
Or1r1 A T 11: 73,875,144 (GRCm39) C97S probably damaging Het
Or4k15b T A 14: 50,272,507 (GRCm39) M118L probably benign Het
Pdpr T C 8: 111,839,342 (GRCm39) I155T possibly damaging Het
Phkg1 T C 5: 129,893,813 (GRCm39) probably null Het
Pik3r6 A G 11: 68,422,276 (GRCm39) Y225C probably benign Het
Plekhh2 A T 17: 84,914,356 (GRCm39) D1253V possibly damaging Het
Plppr3 T C 10: 79,702,757 (GRCm39) T155A probably damaging Het
Ppp6r2 T C 15: 89,166,192 (GRCm39) F732S probably damaging Het
Ryr1 A G 7: 28,799,627 (GRCm39) probably benign Het
Slc16a8 T G 15: 79,135,432 (GRCm39) S459R probably damaging Het
Slc25a12 A T 2: 71,123,696 (GRCm39) probably benign Het
Slc38a2 T C 15: 96,591,066 (GRCm39) probably benign Het
Slit1 C A 19: 41,594,824 (GRCm39) W1182L possibly damaging Het
Snx2 C T 18: 53,327,495 (GRCm39) probably benign Het
Sos1 A T 17: 80,752,929 (GRCm39) V335D probably damaging Het
St18 A G 1: 6,872,856 (GRCm39) D197G probably damaging Het
Ston2 G T 12: 91,615,522 (GRCm39) N295K possibly damaging Het
Stpg3 A G 2: 25,103,191 (GRCm39) probably benign Het
Tmem63a A G 1: 180,799,654 (GRCm39) I675V probably damaging Het
Vmn2r16 T A 5: 109,488,294 (GRCm39) L389Q probably damaging Het
Vps13d C A 4: 144,699,320 (GRCm39) probably benign Het
Wdfy4 A T 14: 32,681,934 (GRCm39) D3012E probably damaging Het
Other mutations in Phf11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00560:Phf11b APN 14 59,562,324 (GRCm39) missense probably damaging 1.00
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
R6775:Phf11b UTSW 14 59,576,094 (GRCm39) missense probably benign 0.14
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
Posted On 2013-06-21