Incidental Mutation 'R6270:Hdac7'
ID 507297
Institutional Source Beutler Lab
Gene Symbol Hdac7
Ensembl Gene ENSMUSG00000022475
Gene Name histone deacetylase 7
Synonyms Hdac7a, 5830434K02Rik
MMRRC Submission 044441-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6270 (G1)
Quality Score 201.468
Status Validated
Chromosome 15
Chromosomal Location 97690545-97742383 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) AGGG to AGGGG at 97706376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000079838
SMART Domains Protein: ENSMUSP00000078766
Gene: ENSMUSG00000022475

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 null
Transcript: ENSMUST00000088402
SMART Domains Protein: ENSMUSP00000085744
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
Pfam:Hist_deacetyl 517 847 2.5e-91 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000116408
SMART Domains Protein: ENSMUSP00000112109
Gene: ENSMUSG00000022475

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 null
Transcript: ENSMUST00000116409
AA Change: 277
SMART Domains Protein: ENSMUSP00000112110
Gene: ENSMUSG00000022475
AA Change: 277

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 null
Transcript: ENSMUST00000118294
SMART Domains Protein: ENSMUSP00000113380
Gene: ENSMUSG00000022475

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 null
Transcript: ENSMUST00000119670
SMART Domains Protein: ENSMUSP00000112459
Gene: ENSMUSG00000022475

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 null
Transcript: ENSMUST00000120683
SMART Domains Protein: ENSMUSP00000112446
Gene: ENSMUSG00000022475

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 null
Transcript: ENSMUST00000121514
SMART Domains Protein: ENSMUSP00000112641
Gene: ENSMUSG00000022475

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 null
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 noncoding transcript
Transcript: ENSMUST00000228466
Predicted Effect probably benign
Transcript: ENSMUST00000134258
SMART Domains Protein: ENSMUSP00000118599
Gene: ENSMUSG00000022475

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 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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 98% (51/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,242,933 (GRCm39) E648G probably benign Het
Ak7 A G 12: 105,734,960 (GRCm39) H642R probably benign Het
Akap11 T C 14: 78,756,239 (GRCm39) E53G probably damaging Het
Ark2n T C 18: 77,762,117 (GRCm39) D65G probably damaging Het
Ddr2 T G 1: 169,816,109 (GRCm39) T533P probably benign Het
Dhx40 A G 11: 86,690,431 (GRCm39) S197P possibly damaging Het
Dolpp1 C A 2: 30,282,281 (GRCm39) probably benign Het
Eng A G 2: 32,563,655 (GRCm39) D347G probably benign Het
Esrra C T 19: 6,891,488 (GRCm39) probably null Het
Fap T C 2: 62,378,132 (GRCm39) I159V probably damaging Het
Fn1 C T 1: 71,676,434 (GRCm39) C599Y probably damaging Het
Fnbp4 T C 2: 90,587,807 (GRCm39) V395A probably damaging Het
Foxn3 T C 12: 99,354,676 (GRCm39) R163G probably damaging Het
Gphn T G 12: 78,569,724 (GRCm39) L306R probably benign Het
Gse1 T C 8: 121,295,902 (GRCm39) probably benign Het
Habp2 A G 19: 56,295,295 (GRCm39) D62G possibly damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Kit A G 5: 75,770,169 (GRCm39) T194A probably benign Het
Krt16 C A 11: 100,138,029 (GRCm39) A316S possibly damaging Het
Krt7 A G 15: 101,317,439 (GRCm39) D244G probably damaging Het
Lhfpl3 T A 5: 23,478,349 (GRCm39) Y77* probably null Het
Lrrc18 A T 14: 32,731,078 (GRCm39) M206L probably benign Het
Magel2 C A 7: 62,030,406 (GRCm39) C1103* probably null Het
Mcf2l T C 8: 13,068,701 (GRCm39) V1058A probably damaging Het
Nbas G A 12: 13,374,294 (GRCm39) A541T probably damaging Het
Nrap C T 19: 56,308,630 (GRCm39) M1485I probably benign Het
Nudt18 T C 14: 70,816,830 (GRCm39) Y145H probably benign Het
Or51b6b T C 7: 103,309,620 (GRCm39) Y279C possibly damaging Het
Or51f1d T C 7: 102,700,538 (GRCm39) L11P probably benign Het
Or5k8 A T 16: 58,644,782 (GRCm39) C97S probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb12 A T 18: 37,569,838 (GRCm39) Q328L possibly damaging Het
Pde6c T C 19: 38,146,884 (GRCm39) W431R probably damaging Het
Pga5 T C 19: 10,652,225 (GRCm39) E139G probably benign Het
Pkdrej G T 15: 85,705,306 (GRCm39) S210* probably null Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Sema3d A T 5: 12,498,074 (GRCm39) M27L probably benign Het
Serinc5 T C 13: 92,825,170 (GRCm39) S200P probably damaging Het
Sf3b3 T C 8: 111,568,452 (GRCm39) D174G probably damaging Het
Sult1b1 A T 5: 87,665,413 (GRCm39) probably null Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcaf3 T C 6: 42,570,725 (GRCm39) I342M probably benign Het
Tenm3 G A 8: 48,820,429 (GRCm39) T136M probably damaging Het
Tet3 T C 6: 83,352,773 (GRCm39) T1008A possibly damaging Het
Tgif1 T C 17: 71,151,861 (GRCm39) probably null Het
Trav15-2-dv6-2 A G 14: 53,887,323 (GRCm39) D81G probably benign Het
Trpv5 T A 6: 41,651,293 (GRCm39) H251L possibly damaging Het
Ttc14 C A 3: 33,854,537 (GRCm39) T37K possibly damaging Het
Vmn2r80 A T 10: 79,030,159 (GRCm39) I662L probably benign Het
Vmn2r81 A G 10: 79,129,649 (GRCm39) I847V probably benign Het
Zfp474 A G 18: 52,771,436 (GRCm39) T30A probably benign Het
Zswim4 C T 8: 84,957,580 (GRCm39) V163M 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
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
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'- AAATCCTGCCTATTCTGGGAGAAG -3'
(R):5'- TTTGCCGACAGTGTCCTTG -3'

Sequencing Primer
(F):5'- CTATTCTGGGAGAAGCGGCAAG -3'
(R):5'- AATCACACTGGGGCTGC -3'
Posted On 2018-03-15