Incidental Mutation 'R6322:Phf21b'
ID 510174
Institutional Source Beutler Lab
Gene Symbol Phf21b
Ensembl Gene ENSMUSG00000016624
Gene Name PHD finger protein 21B
Synonyms A730032D07Rik
MMRRC Submission 044476-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6322 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 84669582-84740250 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 84671580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 438 (R438L)
Ref Sequence ENSEMBL: ENSMUSP00000125355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016768] [ENSMUST00000159939] [ENSMUST00000162044]
AlphaFold Q8C966
Predicted Effect possibly damaging
Transcript: ENSMUST00000016768
AA Change: R426L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000016768
Gene: ENSMUSG00000016624
AA Change: R426L

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: R438L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125355
Gene: ENSMUSG00000016624
AA Change: R438L

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 probably benign
Transcript: ENSMUST00000162044
SMART Domains Protein: ENSMUSP00000124941
Gene: ENSMUSG00000016624

DomainStartEndE-ValueType
low complexity region 200 214 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162996
Meta Mutation Damage Score 0.0841 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,559,843 (GRCm39) V211A probably benign Het
Adora3 G A 3: 105,814,760 (GRCm39) R170H probably benign Het
Aldh1l1 T C 6: 90,539,680 (GRCm39) I203T probably benign Het
Alox12b T C 11: 69,049,199 (GRCm39) Y83H possibly damaging Het
Atcay A T 10: 81,049,125 (GRCm39) I159K probably damaging Het
Blvra A G 2: 126,922,459 (GRCm39) probably benign Het
Catspere2 T A 1: 177,845,296 (GRCm39) Y105* probably null Het
Celsr2 A G 3: 108,319,890 (GRCm39) F974S probably damaging Het
Cfap44 C T 16: 44,254,029 (GRCm39) R918* probably null Het
Cpa6 T A 1: 10,547,346 (GRCm39) R181S possibly damaging Het
Dlg1 A G 16: 31,675,297 (GRCm39) N730D probably damaging Het
Eif2ak1 A G 5: 143,835,913 (GRCm39) T535A probably benign Het
Fam13c A T 10: 70,334,721 (GRCm39) D149V probably damaging Het
Fam171a1 G A 2: 3,227,392 (GRCm39) V717I probably benign Het
Fchsd1 A G 18: 38,098,753 (GRCm39) V290A probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm15446 A T 5: 110,091,383 (GRCm39) H545L probably damaging Het
Heatr9 T G 11: 83,407,538 (GRCm39) K215T possibly damaging Het
Hfe T A 13: 23,889,879 (GRCm39) H210L probably damaging Het
Lama2 T C 10: 27,066,543 (GRCm39) T1113A probably damaging Het
Lipe A T 7: 25,079,961 (GRCm39) V686E probably damaging Het
Map3k20 T G 2: 72,263,814 (GRCm39) L488V possibly damaging Het
Moxd1 C T 10: 24,160,709 (GRCm39) T454I probably damaging Het
Mrpl58 C T 11: 115,301,492 (GRCm39) R189* probably null Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nkx1-1 T C 5: 33,588,389 (GRCm39) N300D probably damaging Het
Nrm A T 17: 36,175,605 (GRCm39) Q237L possibly damaging Het
Numa1 T C 7: 101,650,127 (GRCm39) L1286P probably damaging Het
Or4f4-ps1 T C 2: 111,329,729 (GRCm39) F44S possibly damaging Het
Pappa C A 4: 65,232,896 (GRCm39) A1345D probably damaging Het
Pds5a T C 5: 65,854,177 (GRCm39) I22V probably benign Het
Pik3r5 T C 11: 68,383,567 (GRCm39) L462P probably benign Het
Plagl2 T C 2: 153,073,806 (GRCm39) E365G probably benign Het
Plxna2 A G 1: 194,436,675 (GRCm39) Y677C possibly damaging Het
Pramel13 A G 4: 144,119,475 (GRCm39) M364T probably benign Het
Prkcd C A 14: 30,321,620 (GRCm39) G410W probably damaging Het
Rgl1 T C 1: 152,428,186 (GRCm39) I348V probably damaging Het
Rnmt C T 18: 68,452,285 (GRCm39) P386S probably damaging Het
Rtn3 G A 19: 7,435,503 (GRCm39) P163L possibly damaging Het
Sfxn1 T C 13: 54,258,869 (GRCm39) C275R possibly damaging Het
Sh2b2 A G 5: 136,253,042 (GRCm39) S377P probably damaging Het
Sh3bp1 C T 15: 78,795,715 (GRCm39) P615S probably damaging Het
Simc1 T C 13: 54,698,382 (GRCm39) L1334S probably damaging Het
Slc9a2 C A 1: 40,781,813 (GRCm39) Y347* probably null Het
Snapc5 T A 9: 64,089,455 (GRCm39) I71K probably damaging Het
Tmem161a T C 8: 70,634,764 (GRCm39) F447S probably damaging Het
Tns3 A G 11: 8,442,147 (GRCm39) C739R probably benign Het
Trappc11 A T 8: 47,983,808 (GRCm39) V28D possibly damaging Het
Ubr3 C T 2: 69,786,429 (GRCm39) Q848* probably null Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S 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
R6208:Phf21b UTSW 15 84,679,317 (GRCm39) missense probably damaging 0.97
R6281:Phf21b UTSW 15 84,738,946 (GRCm39) missense probably benign 0.02
R6288:Phf21b UTSW 15 84,739,272 (GRCm39) intron probably benign
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'- CCATGAGTGTTAGACAGGTCCC -3'
(R):5'- AAGCTCTACGGGGACAGTCATC -3'

Sequencing Primer
(F):5'- CAGGTCCCTGGGGTCAGTTG -3'
(R):5'- GGACAGTCATCCCTGCCACTC -3'
Posted On 2018-04-02