Incidental Mutation 'R6869:Hdac7'
ID 536112
Institutional Source Beutler Lab
Gene Symbol Hdac7
Ensembl Gene ENSMUSG00000022475
Gene Name histone deacetylase 7
Synonyms Hdac7a, 5830434K02Rik
MMRRC Submission 044966-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6869 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 97690545-97742383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 97694057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 737 (L737F)
Ref Sequence ENSEMBL: ENSMUSP00000112641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079838] [ENSMUST00000088402] [ENSMUST00000116408] [ENSMUST00000116409] [ENSMUST00000117892] [ENSMUST00000118294] [ENSMUST00000119670] [ENSMUST00000120683] [ENSMUST00000121514] [ENSMUST00000156045]
AlphaFold Q8C2B3
Predicted Effect probably damaging
Transcript: ENSMUST00000079838
AA Change: L830F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078766
Gene: ENSMUSG00000022475
AA Change: L830F

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: L824F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085744
Gene: ENSMUSG00000022475
AA Change: L824F

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 damaging
Transcript: ENSMUST00000116408
AA Change: L802F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112109
Gene: ENSMUSG00000022475
AA Change: L802F

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: L839F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112110
Gene: ENSMUSG00000022475
AA Change: L839F

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 benign
Transcript: ENSMUST00000117892
SMART Domains Protein: ENSMUSP00000112644
Gene: ENSMUSG00000081534

DomainStartEndE-ValueType
Pfam:HRG 8 67 5.3e-11 PFAM
Pfam:HRG 71 122 3.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118294
AA Change: L832F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113380
Gene: ENSMUSG00000022475
AA Change: L832F

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: L778F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112459
Gene: ENSMUSG00000022475
AA Change: L778F

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 probably damaging
Transcript: ENSMUST00000120683
AA Change: L754F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112446
Gene: ENSMUSG00000022475
AA Change: L754F

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: L737F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112641
Gene: ENSMUSG00000022475
AA Change: L737F

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 benign
Transcript: ENSMUST00000135651
SMART Domains Protein: ENSMUSP00000119970
Gene: ENSMUSG00000022475

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 probably benign
Transcript: ENSMUST00000156045
SMART Domains Protein: ENSMUSP00000120576
Gene: ENSMUSG00000022475

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 probably benign
Transcript: ENSMUST00000229084
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (61/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A T 4: 144,507,042 (GRCm39) probably null Het
Ankdd1b A T 13: 96,580,799 (GRCm39) N166K possibly damaging Het
Arhgap30 G T 1: 171,236,623 (GRCm39) R999L probably damaging Het
Bnc2 T A 4: 84,211,733 (GRCm39) D212V probably damaging Het
Bpifb5 T C 2: 154,075,143 (GRCm39) I357T probably benign Het
Catsperb T C 12: 101,446,996 (GRCm39) F208S probably benign Het
Cc2d2b T A 19: 40,797,898 (GRCm39) H1105Q probably benign Het
Chchd6 T C 6: 89,572,478 (GRCm39) D17G probably damaging Het
Chd6 T C 2: 160,807,650 (GRCm39) S1855G probably benign Het
Cpe A G 8: 65,072,461 (GRCm39) V143A probably benign Het
Cyfip1 T A 7: 55,557,113 (GRCm39) V770D possibly damaging Het
Cyp1a1 A T 9: 57,610,067 (GRCm39) M494L probably benign Het
Dcstamp T C 15: 39,617,854 (GRCm39) S88P probably damaging Het
Dnah2 T A 11: 69,320,297 (GRCm39) N3924I probably damaging Het
F830045P16Rik T C 2: 129,316,481 (GRCm39) E76G probably damaging Het
Fam91a1 T A 15: 58,303,117 (GRCm39) V342E probably benign Het
Fastkd1 G A 2: 69,533,104 (GRCm39) A421V probably benign Het
Fgf20 T C 8: 40,734,189 (GRCm39) Y64C probably damaging Het
Gen1 A T 12: 11,291,442 (GRCm39) N847K probably benign Het
Gm4922 A T 10: 18,660,263 (GRCm39) I153K probably damaging Het
Gm6619 T C 6: 131,463,401 (GRCm39) I6T unknown Het
H2-Ab1 T C 17: 34,486,537 (GRCm39) Y199H probably damaging Het
Hells A G 19: 38,929,079 (GRCm39) N121D probably benign Het
Itga2 G A 13: 115,012,073 (GRCm39) probably null Het
Itgb1 A G 8: 129,446,516 (GRCm39) D391G probably benign Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lbx1 T A 19: 45,223,390 (GRCm39) S93C probably damaging Het
Lmod2 T C 6: 24,604,126 (GRCm39) M367T probably benign Het
Lrrc43 G A 5: 123,642,339 (GRCm39) probably null Het
Man2a2 C T 7: 80,012,693 (GRCm39) G574D probably benign Het
Mier2 T G 10: 79,378,503 (GRCm39) K343T probably damaging Het
Msh5 A T 17: 35,260,810 (GRCm39) probably null Het
Mtus1 T C 8: 41,535,691 (GRCm39) Q675R possibly damaging Het
Ncan A T 8: 70,560,557 (GRCm39) H803Q probably benign Het
Nckap5l A G 15: 99,324,334 (GRCm39) V723A probably damaging Het
Nectin3 G A 16: 46,215,506 (GRCm39) R79C probably damaging Het
Nlrc5 A G 8: 95,248,583 (GRCm39) E1735G probably benign Het
Nrros A G 16: 31,963,249 (GRCm39) L220S probably damaging Het
Or52r1c G A 7: 102,735,075 (GRCm39) V112M possibly damaging Het
Or5aq1b T A 2: 86,902,017 (GRCm39) I154F probably benign Het
Oxa1l C T 14: 54,604,195 (GRCm39) P152S probably damaging Het
Pdcd6ip A G 9: 113,484,174 (GRCm39) Y818H unknown Het
Pik3cb A T 9: 98,942,312 (GRCm39) S682T probably benign Het
Ppp1r3a A C 6: 14,754,825 (GRCm39) S141A probably benign Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Ptprk T C 10: 28,349,055 (GRCm39) probably null Het
Ranbp17 T C 11: 33,463,074 (GRCm39) probably benign Het
Rcbtb1 T C 14: 59,455,051 (GRCm39) V95A probably benign Het
Retreg3 G A 11: 101,010,644 (GRCm39) probably benign Het
Rhobtb1 T C 10: 69,106,056 (GRCm39) L207P probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Sh3bgr A G 16: 96,007,860 (GRCm39) Y75C probably damaging Het
Strip1 T C 3: 107,520,761 (GRCm39) D763G probably damaging Het
Stxbp5l A T 16: 37,024,810 (GRCm39) V596E possibly damaging Het
Tas2r138 A G 6: 40,589,355 (GRCm39) I297T probably damaging Het
Topors A C 4: 40,261,201 (GRCm39) N694K unknown Het
Tymp T C 15: 89,260,894 (GRCm39) R20G probably benign Het
Ubr4 A G 4: 139,194,538 (GRCm39) T1144A possibly damaging Het
Unc79 A T 12: 103,079,331 (GRCm39) Q1636L probably benign Het
Vmn1r78 A G 7: 11,886,676 (GRCm39) M96V probably benign Het
Wfdc8 C T 2: 164,441,012 (GRCm39) D244N possibly damaging Het
Zbtb49 G T 5: 38,371,694 (GRCm39) N62K probably damaging Het
Zfp579 G T 7: 4,997,460 (GRCm39) D150E probably benign 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
R5966:Hdac7 UTSW 15 97,700,372 (GRCm39) missense probably damaging 1.00
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
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'- TCTGCGACATCAGAAGACGC -3'
(R):5'- TGGACAGGTGTTGCACTAGG -3'

Sequencing Primer
(F):5'- ATCAGAAGACGCTGGCCCTAG -3'
(R):5'- GCACTAGGGTCTAGTCTTTAAGAC -3'
Posted On 2018-10-18