Incidental Mutation 'R6208:Phf21b'
ID 503288
Institutional Source Beutler Lab
Gene Symbol Phf21b
Ensembl Gene ENSMUSG00000016624
Gene Name PHD finger protein 21B
Synonyms A730032D07Rik
MMRRC Submission 044342-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6208 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 84669582-84740250 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84679317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 282 (S282C)
Ref Sequence ENSEMBL: ENSMUSP00000124941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016768] [ENSMUST00000159939] [ENSMUST00000162044]
AlphaFold Q8C966
Predicted Effect possibly damaging
Transcript: ENSMUST00000016768
AA Change: S270C

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000016768
Gene: ENSMUSG00000016624
AA Change: S270C

DomainStartEndE-ValueType
low complexity region 188 202 N/A INTRINSIC
PHD 297 340 6.64e-10 SMART
coiled coil region 368 403 N/A INTRINSIC
low complexity region 456 467 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159502
Predicted Effect possibly damaging
Transcript: ENSMUST00000159939
AA Change: S282C

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125355
Gene: ENSMUSG00000016624
AA Change: S282C

DomainStartEndE-ValueType
low complexity region 200 214 N/A INTRINSIC
PHD 309 352 6.64e-10 SMART
coiled coil region 380 415 N/A INTRINSIC
low complexity region 468 479 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160389
Predicted Effect probably damaging
Transcript: ENSMUST00000162044
AA Change: S282C

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124941
Gene: ENSMUSG00000016624
AA Change: S282C

DomainStartEndE-ValueType
low complexity region 200 214 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A T 3: 32,766,043 (GRCm39) I18F probably benign Het
Apol11a C T 15: 77,401,241 (GRCm39) R243C probably damaging Het
Asap3 A G 4: 135,968,508 (GRCm39) M687V probably benign Het
Axdnd1 C T 1: 156,220,426 (GRCm39) probably benign Het
Baz2b A G 2: 59,755,150 (GRCm39) F1026S probably damaging Het
Bsg T C 10: 79,544,672 (GRCm39) L70P probably damaging Het
Col10a1 A G 10: 34,270,582 (GRCm39) N185D possibly damaging Het
Col6a2 T A 10: 76,450,891 (GRCm39) N50I possibly damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Defa25 A G 8: 21,575,197 (GRCm39) probably null Het
Emc1 G T 4: 139,081,582 (GRCm39) R70L probably damaging Het
Fat1 T C 8: 45,480,650 (GRCm39) F3028S probably damaging Het
Fhit T C 14: 9,573,435 (GRCm38) E205G probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm20830 T G Y: 6,916,792 (GRCm39) E109A probably benign Homo
Grm1 A T 10: 10,595,690 (GRCm39) F646Y probably damaging Het
Hp1bp3 A G 4: 137,944,481 (GRCm39) probably benign Het
Lce1d G A 3: 92,593,312 (GRCm39) P34S unknown Het
Lpar1 G A 4: 58,504,630 (GRCm39) Q13* probably null Het
Lrrc61 C T 6: 48,545,839 (GRCm39) R221* probably null Het
Map2 A G 1: 66,470,749 (GRCm39) N328D probably damaging Het
Mndal T A 1: 173,684,988 (GRCm39) D527V possibly damaging Het
Mycbp2 T G 14: 103,532,664 (GRCm39) N430T probably benign Het
Myo1e A G 9: 70,283,887 (GRCm39) Y861C probably damaging Het
Nav2 A G 7: 49,213,851 (GRCm39) T1622A probably damaging Het
Nom1 A T 5: 29,654,617 (GRCm39) H773L possibly damaging Het
Npc2 G T 12: 84,803,919 (GRCm39) P144Q probably damaging Het
Npnt A G 3: 132,655,774 (GRCm39) probably benign Het
Nxpe4 A T 9: 48,304,678 (GRCm39) Y255F probably benign Het
Obscn G A 11: 58,958,474 (GRCm39) A3769V possibly damaging Het
Optc T C 1: 133,832,737 (GRCm39) D121G probably damaging Het
Pard6a T C 8: 106,428,866 (GRCm39) F26L probably damaging Het
Pcdhga4 T A 18: 37,819,762 (GRCm39) I437N probably damaging Het
Phf12 G T 11: 77,914,417 (GRCm39) V71F probably damaging Het
Pou5f1 T C 17: 35,821,357 (GRCm39) F323S possibly damaging Het
Psmd5 A T 2: 34,757,023 (GRCm39) I67N probably damaging Het
Pyroxd1 A G 6: 142,303,182 (GRCm39) K273R probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpusd1 A T 17: 25,949,352 (GRCm39) H174L probably damaging Het
Ryr2 T C 13: 11,910,106 (GRCm39) K94R probably benign Het
Scn2b A G 9: 45,029,328 (GRCm39) R3G probably benign Het
Sf3b2 A T 19: 5,325,126 (GRCm39) M782K possibly damaging Het
Skint7 A G 4: 111,842,073 (GRCm39) probably null Het
Slc43a1 A G 2: 84,687,184 (GRCm39) I319V possibly damaging Het
Snupn T A 9: 56,890,247 (GRCm39) M356K probably damaging Het
Spata31d1a C A 13: 59,848,378 (GRCm39) R1250M probably damaging Het
Sprr2h T C 3: 92,294,216 (GRCm39) V21A unknown Het
Srpra A G 9: 35,127,291 (GRCm39) T614A possibly damaging Het
Stk36 A T 1: 74,650,591 (GRCm39) Q327L probably benign Het
Syne3 A G 12: 104,909,622 (GRCm39) I738T probably benign Het
Tcea3 A T 4: 135,975,360 (GRCm39) M1L probably damaging Het
Tead2 G T 7: 44,867,526 (GRCm39) R85L probably damaging Het
Thap7 T C 16: 17,346,300 (GRCm39) N228D possibly damaging Het
Trip11 T A 12: 101,865,154 (GRCm39) E173V probably damaging Het
Ttc38 T A 15: 85,725,698 (GRCm39) M187K possibly damaging Het
Vmn1r193 T A 13: 22,403,138 (GRCm39) T285S possibly damaging Het
Vmn2r106 T C 17: 20,488,591 (GRCm39) T603A probably damaging Het
Vps39 A T 2: 120,163,897 (GRCm39) M355K probably damaging Het
Wnt5b G T 6: 119,423,473 (GRCm39) L51I probably damaging Het
Xxylt1 A G 16: 30,826,626 (GRCm39) Y230H probably benign Het
Other mutations in Phf21b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01785:Phf21b APN 15 84,692,262 (GRCm39) splice site probably benign
IGL02311:Phf21b APN 15 84,678,095 (GRCm39) critical splice donor site probably null
IGL02700:Phf21b APN 15 84,687,662 (GRCm39) missense probably benign 0.00
IGL03201:Phf21b APN 15 84,671,448 (GRCm39) missense probably benign 0.32
R0113:Phf21b UTSW 15 84,688,968 (GRCm39) missense probably damaging 1.00
R1464:Phf21b UTSW 15 84,689,160 (GRCm39) missense probably damaging 0.99
R1464:Phf21b UTSW 15 84,689,160 (GRCm39) missense probably damaging 0.99
R1529:Phf21b UTSW 15 84,681,597 (GRCm39) missense probably damaging 1.00
R1834:Phf21b UTSW 15 84,681,547 (GRCm39) missense probably damaging 1.00
R1854:Phf21b UTSW 15 84,738,963 (GRCm39) missense probably benign 0.41
R3683:Phf21b UTSW 15 84,682,891 (GRCm39) missense probably damaging 1.00
R4729:Phf21b UTSW 15 84,738,942 (GRCm39) nonsense probably null
R5476:Phf21b UTSW 15 84,671,466 (GRCm39) missense probably benign
R5526:Phf21b UTSW 15 84,676,006 (GRCm39) missense probably benign 0.00
R5659:Phf21b UTSW 15 84,678,101 (GRCm39) nonsense probably null
R6281:Phf21b UTSW 15 84,738,946 (GRCm39) missense probably benign 0.02
R6288:Phf21b UTSW 15 84,739,272 (GRCm39) intron probably benign
R6322:Phf21b UTSW 15 84,671,580 (GRCm39) missense possibly damaging 0.94
R6875:Phf21b UTSW 15 84,671,647 (GRCm39) missense probably damaging 1.00
R7087:Phf21b UTSW 15 84,676,033 (GRCm39) missense probably damaging 1.00
R7296:Phf21b UTSW 15 84,739,918 (GRCm39) start codon destroyed probably null 0.77
R7331:Phf21b UTSW 15 84,675,295 (GRCm39) missense probably benign 0.00
R7439:Phf21b UTSW 15 84,689,104 (GRCm39) missense probably damaging 1.00
R7744:Phf21b UTSW 15 84,689,070 (GRCm39) missense probably damaging 0.99
R7949:Phf21b UTSW 15 84,676,036 (GRCm39) missense probably damaging 1.00
R9008:Phf21b UTSW 15 84,671,563 (GRCm39) missense probably damaging 1.00
R9458:Phf21b UTSW 15 84,738,995 (GRCm39) missense possibly damaging 0.89
R9468:Phf21b UTSW 15 84,689,299 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCAGTATGTTCCTAGTGC -3'
(R):5'- GGAACCTCGCCTTTGTAAAC -3'

Sequencing Primer
(F):5'- GGCAGTATGTTCCTAGTGCCATTTC -3'
(R):5'- GAACCTCGCCTTTGTAAACTTCCTC -3'
Posted On 2018-02-27