Incidental Mutation 'R5966:Hdac7'
ID 472126
Institutional Source Beutler Lab
Gene Symbol Hdac7
Ensembl Gene ENSMUSG00000022475
Gene Name histone deacetylase 7
Synonyms Hdac7a, 5830434K02Rik
MMRRC Submission 044151-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5966 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 97690545-97742383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 97700372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 572 (H572Q)
Ref Sequence ENSEMBL: ENSMUSP00000120576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079838] [ENSMUST00000088402] [ENSMUST00000116408] [ENSMUST00000116409] [ENSMUST00000118294] [ENSMUST00000119670] [ENSMUST00000120683] [ENSMUST00000121514] [ENSMUST00000156045]
AlphaFold Q8C2B3
Predicted Effect probably damaging
Transcript: ENSMUST00000079838
AA Change: H578Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078766
Gene: ENSMUSG00000022475
AA Change: H578Q

DomainStartEndE-ValueType
low complexity region 79 93 N/A INTRINSIC
low complexity region 97 113 N/A INTRINSIC
low complexity region 196 211 N/A INTRINSIC
low complexity region 357 375 N/A INTRINSIC
low complexity region 426 438 N/A INTRINSIC
low complexity region 442 454 N/A INTRINSIC
low complexity region 485 498 N/A INTRINSIC
Pfam:Hist_deacetyl 523 853 2.5e-91 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000088402
AA Change: H572Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085744
Gene: ENSMUSG00000022475
AA Change: H572Q

DomainStartEndE-ValueType
low complexity region 79 93 N/A INTRINSIC
low complexity region 97 113 N/A INTRINSIC
low complexity region 151 169 N/A INTRINSIC
low complexity region 220 235 N/A INTRINSIC
low complexity region 344 362 N/A INTRINSIC
low complexity region 420 432 N/A INTRINSIC
low complexity region 436 448 N/A INTRINSIC
low complexity region 479 492 N/A INTRINSIC
Pfam:Hist_deacetyl 517 847 2.5e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116408
AA Change: H550Q

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000112109
Gene: ENSMUSG00000022475
AA Change: H550Q

DomainStartEndE-ValueType
low complexity region 57 71 N/A INTRINSIC
low complexity region 75 91 N/A INTRINSIC
low complexity region 129 147 N/A INTRINSIC
low complexity region 198 213 N/A INTRINSIC
low complexity region 322 340 N/A INTRINSIC
low complexity region 398 410 N/A INTRINSIC
low complexity region 414 426 N/A INTRINSIC
low complexity region 457 470 N/A INTRINSIC
Pfam:Hist_deacetyl 495 825 2.3e-91 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000116409
AA Change: H587Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112110
Gene: ENSMUSG00000022475
AA Change: H587Q

DomainStartEndE-ValueType
low complexity region 57 71 N/A INTRINSIC
low complexity region 75 91 N/A INTRINSIC
low complexity region 129 147 N/A INTRINSIC
low complexity region 198 213 N/A INTRINSIC
low complexity region 359 377 N/A INTRINSIC
low complexity region 435 447 N/A INTRINSIC
low complexity region 451 463 N/A INTRINSIC
low complexity region 494 507 N/A INTRINSIC
Pfam:Hist_deacetyl 532 862 9.1e-83 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118294
AA Change: H580Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113380
Gene: ENSMUSG00000022475
AA Change: H580Q

DomainStartEndE-ValueType
low complexity region 57 71 N/A INTRINSIC
low complexity region 75 91 N/A INTRINSIC
low complexity region 129 147 N/A INTRINSIC
low complexity region 198 213 N/A INTRINSIC
low complexity region 359 377 N/A INTRINSIC
low complexity region 428 440 N/A INTRINSIC
low complexity region 444 456 N/A INTRINSIC
low complexity region 487 500 N/A INTRINSIC
Pfam:Hist_deacetyl 525 855 2.6e-91 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119670
AA Change: H526Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112459
Gene: ENSMUSG00000022475
AA Change: H526Q

DomainStartEndE-ValueType
low complexity region 57 71 N/A INTRINSIC
low complexity region 75 91 N/A INTRINSIC
low complexity region 174 189 N/A INTRINSIC
low complexity region 298 316 N/A INTRINSIC
low complexity region 374 386 N/A INTRINSIC
low complexity region 390 402 N/A INTRINSIC
low complexity region 433 446 N/A INTRINSIC
Pfam:Hist_deacetyl 471 801 2.3e-91 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000134258
AA Change: H203Q
SMART Domains Protein: ENSMUSP00000118599
Gene: ENSMUSG00000022475
AA Change: H203Q

DomainStartEndE-ValueType
low complexity region 52 64 N/A INTRINSIC
low complexity region 68 80 N/A INTRINSIC
low complexity region 111 124 N/A INTRINSIC
PDB:3ZNS|C 127 241 5e-70 PDB
SCOP:d1c3pa_ 139 219 2e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120683
AA Change: H550Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112446
Gene: ENSMUSG00000022475
AA Change: H550Q

DomainStartEndE-ValueType
low complexity region 57 71 N/A INTRINSIC
low complexity region 75 91 N/A INTRINSIC
low complexity region 129 147 N/A INTRINSIC
low complexity region 198 213 N/A INTRINSIC
low complexity region 322 340 N/A INTRINSIC
low complexity region 398 410 N/A INTRINSIC
low complexity region 414 426 N/A INTRINSIC
low complexity region 457 470 N/A INTRINSIC
Pfam:Hist_deacetyl 495 623 7.9e-9 PFAM
Pfam:Hist_deacetyl 623 777 3.5e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121514
AA Change: H485Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112641
Gene: ENSMUSG00000022475
AA Change: H485Q

DomainStartEndE-ValueType
low complexity region 57 71 N/A INTRINSIC
low complexity region 75 91 N/A INTRINSIC
low complexity region 129 147 N/A INTRINSIC
low complexity region 198 213 N/A INTRINSIC
low complexity region 322 340 N/A INTRINSIC
low complexity region 392 405 N/A INTRINSIC
Pfam:Hist_deacetyl 430 760 9e-92 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000156045
AA Change: H572Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120576
Gene: ENSMUSG00000022475
AA Change: H572Q

DomainStartEndE-ValueType
low complexity region 79 93 N/A INTRINSIC
low complexity region 97 113 N/A INTRINSIC
low complexity region 151 169 N/A INTRINSIC
low complexity region 220 235 N/A INTRINSIC
low complexity region 344 362 N/A INTRINSIC
low complexity region 420 432 N/A INTRINSIC
low complexity region 436 448 N/A INTRINSIC
low complexity region 479 492 N/A INTRINSIC
PDB:3ZNS|C 495 602 2e-60 PDB
SCOP:d1c3pa_ 507 587 6e-16 SMART
low complexity region 603 621 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000135651
AA Change: H145Q
SMART Domains Protein: ENSMUSP00000119970
Gene: ENSMUSG00000022475
AA Change: H145Q

DomainStartEndE-ValueType
low complexity region 10 22 N/A INTRINSIC
low complexity region 53 66 N/A INTRINSIC
Pfam:Hist_deacetyl 166 213 8.8e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228466
Meta Mutation Damage Score 0.9263 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 94% (79/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Deletion of this gene result in embryonic lethality by E11, due to vascular defects which are due to endothelial cell adhesion defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A T 10: 115,415,717 (GRCm39) probably benign Het
Acaa2 T C 18: 74,937,223 (GRCm39) L369S probably damaging Het
Akna A G 4: 63,313,140 (GRCm39) S328P probably damaging Het
Albfm1 A G 5: 90,719,546 (GRCm39) Y214C probably damaging Het
Apc A G 18: 34,354,140 (GRCm39) probably benign Het
Brca2 C T 5: 150,466,716 (GRCm39) T2160I probably damaging Het
Camsap2 A G 1: 136,204,330 (GRCm39) S1251P probably damaging Het
Ccdc110 A G 8: 46,395,573 (GRCm39) E488G probably damaging Het
Ccdc158 T A 5: 92,797,908 (GRCm39) I411F probably damaging Het
Cd163 C T 6: 124,297,595 (GRCm39) Q914* probably null Het
Cd22 T C 7: 30,566,083 (GRCm39) D827G probably damaging Het
Ces1e A G 8: 93,946,001 (GRCm39) probably null Het
Col14a1 T C 15: 55,315,779 (GRCm39) probably null Het
Csmd3 T A 15: 47,713,135 (GRCm39) D1509V probably damaging Het
Ddx51 A G 5: 110,804,717 (GRCm39) D543G probably damaging Het
Diaph3 T A 14: 87,222,261 (GRCm39) I408F probably damaging Het
Dld G A 12: 31,390,325 (GRCm39) P213L probably damaging Het
Dnah6 T C 6: 73,037,262 (GRCm39) T3327A probably benign Het
Dnttip2 T A 3: 122,078,817 (GRCm39) probably benign Het
Dock10 T C 1: 80,546,225 (GRCm39) E791G possibly damaging Het
Ehd3 G T 17: 74,134,356 (GRCm39) W238C probably damaging Het
Ehd3 T G 17: 74,134,361 (GRCm39) L240R probably damaging Het
Ep400 A G 5: 110,824,766 (GRCm39) V2357A unknown Het
Fam20c T C 5: 138,741,932 (GRCm39) V181A probably damaging Het
Gm4781 T C 10: 100,232,814 (GRCm39) noncoding transcript Het
Gpatch8 A T 11: 102,371,058 (GRCm39) S827T unknown Het
Grm3 A T 5: 9,561,930 (GRCm39) I640N probably damaging Het
Gstm7 A G 3: 107,838,747 (GRCm39) probably benign Het
Ift140 C T 17: 25,313,735 (GRCm39) Q1389* probably null Het
Igfn1 A G 1: 135,893,152 (GRCm39) V2099A probably damaging Het
Ik A G 18: 36,888,531 (GRCm39) N443S possibly damaging Het
Impact A G 18: 13,123,601 (GRCm39) K315E probably benign Het
Insr C A 8: 3,308,697 (GRCm39) R113L probably benign Het
Jak2 T A 19: 29,260,954 (GRCm39) Y317N possibly damaging Het
Kif18a T A 2: 109,122,411 (GRCm39) V162E probably damaging Het
L3mbtl3 A G 10: 26,207,762 (GRCm39) V319A unknown Het
Lepr T C 4: 101,649,324 (GRCm39) probably benign Het
Lmo7 C T 14: 102,137,938 (GRCm39) T647I possibly damaging Het
Mindy3 C T 2: 12,405,854 (GRCm39) R147Q probably benign Het
Mtr T C 13: 12,230,453 (GRCm39) probably null Het
Muc4 A T 16: 32,576,652 (GRCm39) probably benign Het
Nrip1 G A 16: 76,090,471 (GRCm39) T362M possibly damaging Het
Or1j17 G T 2: 36,578,074 (GRCm39) R20L probably null Het
Or1q1 T C 2: 36,886,957 (GRCm39) I45T possibly damaging Het
Or5d45 A G 2: 88,153,222 (GRCm39) S276P probably benign Het
Ovol1 G A 19: 5,601,630 (GRCm39) R131C probably damaging Het
Pcca T C 14: 122,905,998 (GRCm39) V323A probably damaging Het
Pcdhb14 A T 18: 37,581,295 (GRCm39) M134L probably benign Het
Pecam1 G A 11: 106,581,887 (GRCm39) T252M probably benign Het
Rnd3 T A 2: 51,022,536 (GRCm39) I169F probably damaging Het
Rnmt T A 18: 68,444,689 (GRCm39) D219E probably benign Het
Rufy1 A T 11: 50,292,315 (GRCm39) F491L probably benign Het
Ryr2 G T 13: 11,677,124 (GRCm39) C3242* probably null Het
Smurf2 G T 11: 106,766,727 (GRCm39) R31S possibly damaging Het
Sptbn1 A G 11: 30,074,873 (GRCm39) I1333T probably damaging Het
Stard9 G A 2: 120,527,580 (GRCm39) C1279Y probably damaging Het
Sugp2 T C 8: 70,704,753 (GRCm39) probably null Het
Sulf1 A T 1: 12,929,636 (GRCm39) D301V probably benign Het
Tbcd G T 11: 121,492,737 (GRCm39) probably benign Het
Tlr11 T C 14: 50,599,712 (GRCm39) I566T probably benign Het
Tm9sf2 T A 14: 122,374,921 (GRCm39) probably benign Het
Tnfaip8l1 T C 17: 56,478,799 (GRCm39) F30L probably benign Het
Trav15-2-dv6-2 T A 14: 53,887,433 (GRCm39) C118S probably damaging Het
Ttc13 A G 8: 125,408,959 (GRCm39) probably benign Het
Ubqln3 A T 7: 103,790,906 (GRCm39) S395T probably benign Het
Urb2 A G 8: 124,754,827 (GRCm39) D178G probably benign Het
Usf3 A G 16: 44,041,222 (GRCm39) I1901V probably benign Het
Vmn1r173 A T 7: 23,402,112 (GRCm39) I116F probably benign Het
Vmn1r69 T A 7: 10,314,717 (GRCm39) T5S probably benign Het
Wbp1l C T 19: 46,642,619 (GRCm39) R191* probably null Het
Wfikkn2 C T 11: 94,129,688 (GRCm39) R151H probably damaging Het
Other mutations in Hdac7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Hdac7 APN 15 97,707,376 (GRCm39) missense probably damaging 0.98
IGL01011:Hdac7 APN 15 97,691,816 (GRCm39) missense possibly damaging 0.83
IGL01361:Hdac7 APN 15 97,709,323 (GRCm39) missense possibly damaging 0.85
IGL01474:Hdac7 APN 15 97,695,820 (GRCm39) critical splice donor site probably null
IGL02314:Hdac7 APN 15 97,706,885 (GRCm39) missense probably damaging 1.00
IGL02379:Hdac7 APN 15 97,706,266 (GRCm39) missense probably damaging 0.99
IGL02665:Hdac7 APN 15 97,694,838 (GRCm39) unclassified probably benign
IGL03010:Hdac7 APN 15 97,691,810 (GRCm39) critical splice donor site probably null
IGL03023:Hdac7 APN 15 97,695,838 (GRCm39) missense probably damaging 1.00
IGL03081:Hdac7 APN 15 97,696,187 (GRCm39) missense probably damaging 1.00
Cairn UTSW 15 97,706,376 (GRCm39) frame shift probably null
Signpost UTSW 15 97,700,628 (GRCm39) missense probably damaging 1.00
R0285:Hdac7 UTSW 15 97,696,103 (GRCm39) critical splice donor site probably null
R0518:Hdac7 UTSW 15 97,704,380 (GRCm39) nonsense probably null
R0521:Hdac7 UTSW 15 97,704,380 (GRCm39) nonsense probably null
R0522:Hdac7 UTSW 15 97,704,560 (GRCm39) splice site probably null
R1543:Hdac7 UTSW 15 97,707,410 (GRCm39) splice site probably benign
R1623:Hdac7 UTSW 15 97,706,285 (GRCm39) nonsense probably null
R1665:Hdac7 UTSW 15 97,704,406 (GRCm39) missense probably damaging 1.00
R1844:Hdac7 UTSW 15 97,705,857 (GRCm39) missense probably damaging 0.98
R1895:Hdac7 UTSW 15 97,694,767 (GRCm39) missense probably damaging 1.00
R1975:Hdac7 UTSW 15 97,704,386 (GRCm39) nonsense probably null
R1976:Hdac7 UTSW 15 97,704,386 (GRCm39) nonsense probably null
R2038:Hdac7 UTSW 15 97,696,151 (GRCm39) missense probably damaging 1.00
R2155:Hdac7 UTSW 15 97,691,944 (GRCm39) missense probably benign 0.00
R2156:Hdac7 UTSW 15 97,691,944 (GRCm39) missense probably benign 0.00
R2263:Hdac7 UTSW 15 97,708,732 (GRCm39) critical splice donor site probably null
R3546:Hdac7 UTSW 15 97,705,890 (GRCm39) missense probably damaging 1.00
R4438:Hdac7 UTSW 15 97,705,596 (GRCm39) missense probably damaging 1.00
R4642:Hdac7 UTSW 15 97,704,397 (GRCm39) missense probably damaging 1.00
R4704:Hdac7 UTSW 15 97,694,097 (GRCm39) missense probably damaging 1.00
R4705:Hdac7 UTSW 15 97,709,468 (GRCm39) missense probably damaging 0.99
R5303:Hdac7 UTSW 15 97,695,899 (GRCm39) missense probably damaging 0.97
R5577:Hdac7 UTSW 15 97,709,336 (GRCm39) missense probably benign 0.09
R5974:Hdac7 UTSW 15 97,699,953 (GRCm39) splice site probably null
R6270:Hdac7 UTSW 15 97,706,376 (GRCm39) frame shift probably null
R6384:Hdac7 UTSW 15 97,709,387 (GRCm39) nonsense probably null
R6835:Hdac7 UTSW 15 97,700,628 (GRCm39) missense probably damaging 1.00
R6869:Hdac7 UTSW 15 97,694,057 (GRCm39) missense probably damaging 1.00
R7261:Hdac7 UTSW 15 97,704,415 (GRCm39) missense probably benign
R7338:Hdac7 UTSW 15 97,707,903 (GRCm39) missense probably benign 0.30
R7414:Hdac7 UTSW 15 97,706,392 (GRCm39) missense probably benign 0.00
R7753:Hdac7 UTSW 15 97,704,369 (GRCm39) missense probably benign 0.00
R7753:Hdac7 UTSW 15 97,698,642 (GRCm39) missense possibly damaging 0.93
R8523:Hdac7 UTSW 15 97,706,251 (GRCm39) missense probably damaging 1.00
R8911:Hdac7 UTSW 15 97,694,789 (GRCm39) missense possibly damaging 0.71
R9141:Hdac7 UTSW 15 97,697,649 (GRCm39) missense probably benign 0.12
R9354:Hdac7 UTSW 15 97,694,769 (GRCm39) missense probably damaging 1.00
R9443:Hdac7 UTSW 15 97,700,352 (GRCm39) missense probably benign 0.05
R9759:Hdac7 UTSW 15 97,699,989 (GRCm39) missense probably benign 0.00
R9792:Hdac7 UTSW 15 97,698,671 (GRCm39) missense possibly damaging 0.92
R9793:Hdac7 UTSW 15 97,698,671 (GRCm39) missense possibly damaging 0.92
X0028:Hdac7 UTSW 15 97,706,889 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTAGCATGGGAATATCCAGG -3'
(R):5'- CCTGTGGAGACAACAGCAAG -3'

Sequencing Primer
(F):5'- TATCCAGGAAGCTGGGTCAAG -3'
(R):5'- AGCATCCCGAGCATGCAG -3'
Posted On 2017-03-31