Incidental Mutation 'IGL03155:Phf21a'
ID 411226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf21a
Ensembl Gene ENSMUSG00000058318
Gene Name PHD finger protein 21A
Synonyms Braf35/HDAC complex (Bhc), 80kDa, Bhc80, PFTF1, D030065N23Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03155
Quality Score
Status
Chromosome 2
Chromosomal Location 92014096-92195011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 92150611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 64 (V64G)
Ref Sequence ENSEMBL: ENSMUSP00000106928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044036] [ENSMUST00000068702] [ENSMUST00000090586] [ENSMUST00000111290] [ENSMUST00000111291] [ENSMUST00000111292] [ENSMUST00000159961] [ENSMUST00000111294] [ENSMUST00000111297] [ENSMUST00000162146] [ENSMUST00000111293]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000044036
AA Change: V64G

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038497
Gene: ENSMUSG00000058318
AA Change: V64G

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 129 N/A INTRINSIC
low complexity region 165 186 N/A INTRINSIC
AT_hook 350 362 4.28e-1 SMART
low complexity region 369 381 N/A INTRINSIC
PHD 415 458 3.12e-15 SMART
RING 416 457 1.85e-1 SMART
coiled coil region 482 527 N/A INTRINSIC
low complexity region 575 595 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000068702
AA Change: V64G

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000070649
Gene: ENSMUSG00000058318
AA Change: V64G

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 128 N/A INTRINSIC
low complexity region 164 185 N/A INTRINSIC
PHD 367 410 3.12e-15 SMART
RING 368 409 1.85e-1 SMART
coiled coil region 434 479 N/A INTRINSIC
low complexity region 527 547 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000090586
AA Change: V64G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088074
Gene: ENSMUSG00000058318
AA Change: V64G

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 128 N/A INTRINSIC
low complexity region 249 270 N/A INTRINSIC
AT_hook 434 446 4.28e-1 SMART
low complexity region 453 465 N/A INTRINSIC
PHD 499 542 3.12e-15 SMART
RING 500 541 1.85e-1 SMART
coiled coil region 566 611 N/A INTRINSIC
low complexity region 659 679 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111290
AA Change: V64G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106921
Gene: ENSMUSG00000058318
AA Change: V64G

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 128 N/A INTRINSIC
low complexity region 249 270 N/A INTRINSIC
AT_hook 405 417 4.28e-1 SMART
low complexity region 424 436 N/A INTRINSIC
PHD 470 513 3.12e-15 SMART
RING 471 512 1.85e-1 SMART
coiled coil region 537 582 N/A INTRINSIC
low complexity region 630 650 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111291
AA Change: V64G

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106922
Gene: ENSMUSG00000058318
AA Change: V64G

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 129 N/A INTRINSIC
low complexity region 165 186 N/A INTRINSIC
AT_hook 350 362 4.28e-1 SMART
low complexity region 369 381 N/A INTRINSIC
PHD 415 458 3.12e-15 SMART
RING 416 457 1.85e-1 SMART
coiled coil region 482 527 N/A INTRINSIC
low complexity region 575 595 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111292
AA Change: V64G

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106923
Gene: ENSMUSG00000058318
AA Change: V64G

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 128 N/A INTRINSIC
low complexity region 164 185 N/A INTRINSIC
PHD 367 410 3.12e-15 SMART
RING 368 409 1.85e-1 SMART
coiled coil region 434 479 N/A INTRINSIC
low complexity region 527 547 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000159961
AA Change: V36G

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123955
Gene: ENSMUSG00000058318
AA Change: V36G

DomainStartEndE-ValueType
coiled coil region 1 34 N/A INTRINSIC
low complexity region 57 100 N/A INTRINSIC
low complexity region 136 157 N/A INTRINSIC
AT_hook 321 333 4.28e-1 SMART
low complexity region 340 352 N/A INTRINSIC
PHD 386 429 3.12e-15 SMART
RING 387 428 1.85e-1 SMART
coiled coil region 453 498 N/A INTRINSIC
low complexity region 546 566 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111294
AA Change: V64G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106925
Gene: ENSMUSG00000058318
AA Change: V64G

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 128 N/A INTRINSIC
low complexity region 249 270 N/A INTRINSIC
PHD 452 495 3.12e-15 SMART
RING 453 494 1.85e-1 SMART
coiled coil region 519 564 N/A INTRINSIC
low complexity region 612 632 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111297
AA Change: V64G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106928
Gene: ENSMUSG00000058318
AA Change: V64G

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 129 N/A INTRINSIC
low complexity region 248 269 N/A INTRINSIC
PHD 422 465 3.12e-15 SMART
RING 423 464 1.85e-1 SMART
coiled coil region 489 534 N/A INTRINSIC
low complexity region 582 602 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162146
AA Change: V71G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124032
Gene: ENSMUSG00000058318
AA Change: V71G

DomainStartEndE-ValueType
coiled coil region 29 69 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111293
AA Change: V64G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106924
Gene: ENSMUSG00000058318
AA Change: V64G

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 128 N/A INTRINSIC
low complexity region 249 270 N/A INTRINSIC
AT_hook 434 446 4.28e-1 SMART
low complexity region 453 465 N/A INTRINSIC
PHD 499 542 3.12e-15 SMART
RING 500 541 1.85e-1 SMART
coiled coil region 566 611 N/A INTRINSIC
low complexity region 659 679 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000159366
AA Change: V61G
SMART Domains Protein: ENSMUSP00000124238
Gene: ENSMUSG00000058318
AA Change: V61G

DomainStartEndE-ValueType
coiled coil region 26 59 N/A INTRINSIC
low complexity region 83 127 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159727
SMART Domains Protein: ENSMUSP00000124845
Gene: ENSMUSG00000058318

DomainStartEndE-ValueType
low complexity region 131 152 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality and insufficient milk-sucking behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d C T 2: 131,388,001 (GRCm39) R518H probably benign Het
Akr7a5 T A 4: 139,041,837 (GRCm39) C190* probably null Het
Cct2 A T 10: 116,896,576 (GRCm39) L209Q probably damaging Het
Chordc1 T A 9: 18,215,616 (GRCm39) S123T possibly damaging Het
Crtap T C 9: 114,209,117 (GRCm39) D309G possibly damaging Het
Csf2 T C 11: 54,138,497 (GRCm39) T115A possibly damaging Het
Dgkb T A 12: 38,189,458 (GRCm39) I287N probably damaging Het
Dyrk1b G A 7: 27,882,112 (GRCm39) D98N probably benign Het
Eif4g1 T C 16: 20,511,167 (GRCm39) S1550P probably damaging Het
Fam83e A G 7: 45,376,499 (GRCm39) E404G possibly damaging Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
Fsip1 A T 2: 118,082,220 (GRCm39) N71K probably benign Het
Gm5092 A T 17: 21,314,970 (GRCm39) noncoding transcript Het
Gnb1l T A 16: 18,359,282 (GRCm39) probably null Het
Got1l1 T C 8: 27,689,360 (GRCm39) Y233C probably damaging Het
Katnbl1 T A 2: 112,239,577 (GRCm39) probably null Het
Kcnn2 A G 18: 45,818,382 (GRCm39) E493G probably damaging Het
Kif26b C T 1: 178,701,693 (GRCm39) R691W probably damaging Het
Lrp2 A T 2: 69,285,796 (GRCm39) probably benign Het
Mast3 A G 8: 71,241,861 (GRCm39) S107P probably damaging Het
Mrc1 A G 2: 14,335,912 (GRCm39) N1433D probably benign Het
Mycbp2 G A 14: 103,392,889 (GRCm39) S3114L probably benign Het
Naip6 T A 13: 100,452,932 (GRCm39) H43L possibly damaging Het
Nin A T 12: 70,078,544 (GRCm39) C1681S probably damaging Het
Nnmt C T 9: 48,503,352 (GRCm39) V225M probably damaging Het
Or2ag1b A T 7: 106,288,446 (GRCm39) M164K probably damaging Het
Or4c125 A T 2: 89,170,310 (GRCm39) M112K probably damaging Het
Ptprd A T 4: 75,984,456 (GRCm39) S800R possibly damaging Het
Scarf2 C T 16: 17,625,413 (GRCm39) P823S probably benign Het
Scn5a T C 9: 119,341,248 (GRCm39) T1212A possibly damaging Het
Slc38a10 C T 11: 119,995,945 (GRCm39) V1043I probably damaging Het
Stxbp5 A T 10: 9,692,034 (GRCm39) L370Q probably null Het
Tas1r2 T C 4: 139,396,467 (GRCm39) V602A possibly damaging Het
Tatdn1 T C 15: 58,788,045 (GRCm39) probably benign Het
Tdrd6 A T 17: 43,936,398 (GRCm39) L1550Q probably damaging Het
Tet3 G T 6: 83,345,365 (GRCm39) R1556S probably damaging Het
Tnpo2 T A 8: 85,771,709 (GRCm39) I249N probably benign Het
Tnxb G T 17: 34,932,569 (GRCm39) V2263F probably damaging Het
Trim75 C T 8: 65,435,992 (GRCm39) V153M possibly damaging Het
Ttc21a T A 9: 119,773,042 (GRCm39) probably null Het
Tuft1 T A 3: 94,541,821 (GRCm39) I61L possibly damaging Het
Usp43 T C 11: 67,767,315 (GRCm39) D680G probably damaging Het
Vac14 A G 8: 111,362,975 (GRCm39) I274V possibly damaging Het
Vmn1r222 T A 13: 23,416,863 (GRCm39) R117W probably damaging Het
Vmn1r83 T C 7: 12,055,617 (GRCm39) M147V probably benign Het
Vmn2r43 T A 7: 8,258,068 (GRCm39) I382L possibly damaging Het
Vmn2r63 C T 7: 42,552,878 (GRCm39) V793I probably damaging Het
Vopp1 A G 6: 57,739,492 (GRCm39) Y19H possibly damaging Het
Yeats2 T C 16: 20,048,323 (GRCm39) probably null Het
Other mutations in Phf21a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Phf21a APN 2 92,178,374 (GRCm39) missense probably damaging 1.00
IGL00826:Phf21a APN 2 92,174,881 (GRCm39) splice site probably benign
IGL01859:Phf21a APN 2 92,158,701 (GRCm39) missense probably damaging 1.00
IGL02124:Phf21a APN 2 92,179,767 (GRCm39) missense probably damaging 1.00
IGL02724:Phf21a APN 2 92,190,592 (GRCm39) missense probably damaging 1.00
R0308:Phf21a UTSW 2 92,161,122 (GRCm39) missense possibly damaging 0.86
R1251:Phf21a UTSW 2 92,189,544 (GRCm39) missense probably benign 0.00
R1739:Phf21a UTSW 2 92,190,644 (GRCm39) missense possibly damaging 0.95
R1775:Phf21a UTSW 2 92,160,860 (GRCm39) missense probably damaging 1.00
R2013:Phf21a UTSW 2 92,058,828 (GRCm39) critical splice donor site probably null
R2064:Phf21a UTSW 2 92,157,422 (GRCm39) missense possibly damaging 0.47
R2073:Phf21a UTSW 2 92,178,381 (GRCm39) missense probably damaging 1.00
R4698:Phf21a UTSW 2 92,187,297 (GRCm39) missense probably damaging 1.00
R4901:Phf21a UTSW 2 92,187,346 (GRCm39) nonsense probably null
R5055:Phf21a UTSW 2 92,182,201 (GRCm39) missense probably damaging 1.00
R5249:Phf21a UTSW 2 92,058,822 (GRCm39) missense probably damaging 1.00
R5401:Phf21a UTSW 2 92,182,097 (GRCm39) missense possibly damaging 0.71
R5770:Phf21a UTSW 2 92,182,199 (GRCm39) missense possibly damaging 0.52
R5969:Phf21a UTSW 2 92,051,956 (GRCm39) missense probably damaging 0.98
R6008:Phf21a UTSW 2 92,182,097 (GRCm39) missense possibly damaging 0.71
R6012:Phf21a UTSW 2 92,182,120 (GRCm39) missense probably damaging 1.00
R6128:Phf21a UTSW 2 92,181,953 (GRCm39) critical splice acceptor site probably null
R6354:Phf21a UTSW 2 92,179,282 (GRCm39) missense probably damaging 1.00
R7075:Phf21a UTSW 2 92,190,724 (GRCm39) nonsense probably null
R7117:Phf21a UTSW 2 92,189,502 (GRCm39) missense probably benign 0.25
R7270:Phf21a UTSW 2 92,157,484 (GRCm39) missense probably damaging 0.98
R7603:Phf21a UTSW 2 92,187,352 (GRCm39) missense probably benign 0.08
R7708:Phf21a UTSW 2 92,157,511 (GRCm39) critical splice donor site probably null
R7946:Phf21a UTSW 2 92,189,512 (GRCm39) missense probably damaging 0.99
R9788:Phf21a UTSW 2 92,181,978 (GRCm39) critical splice donor site probably null
Z1177:Phf21a UTSW 2 92,061,059 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02