Incidental Mutation 'R1976:Hdac7'
ID 221776
Institutional Source Beutler Lab
Gene Symbol Hdac7
Ensembl Gene ENSMUSG00000022475
Gene Name histone deacetylase 7
Synonyms Hdac7a, 5830434K02Rik
MMRRC Submission 039989-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1976 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 97690545-97742383 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 97704386 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 495 (Q495*)
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
AA Change: Q501*
SMART Domains Protein: ENSMUSP00000078766
Gene: ENSMUSG00000022475
AA Change: Q501*

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
AA Change: Q495*
SMART Domains Protein: ENSMUSP00000085744
Gene: ENSMUSG00000022475
AA Change: Q495*

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
AA Change: Q473*
SMART Domains Protein: ENSMUSP00000112109
Gene: ENSMUSG00000022475
AA Change: Q473*

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: Q510*
SMART Domains Protein: ENSMUSP00000112110
Gene: ENSMUSG00000022475
AA Change: Q510*

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
AA Change: Q503*
SMART Domains Protein: ENSMUSP00000113380
Gene: ENSMUSG00000022475
AA Change: Q503*

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
AA Change: Q449*
SMART Domains Protein: ENSMUSP00000112459
Gene: ENSMUSG00000022475
AA Change: Q449*

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
AA Change: Q473*
SMART Domains Protein: ENSMUSP00000112446
Gene: ENSMUSG00000022475
AA Change: Q473*

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: ENSMUST00000134258
AA Change: Q126*
SMART Domains Protein: ENSMUSP00000118599
Gene: ENSMUSG00000022475
AA Change: Q126*

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 null
Transcript: ENSMUST00000121514
AA Change: Q408*
SMART Domains Protein: ENSMUSP00000112641
Gene: ENSMUSG00000022475
AA Change: Q408*

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
AA Change: Q495*
SMART Domains Protein: ENSMUSP00000120576
Gene: ENSMUSG00000022475
AA Change: Q495*

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 null
Transcript: ENSMUST00000135651
AA Change: Q68*
SMART Domains Protein: ENSMUSP00000119970
Gene: ENSMUSG00000022475
AA Change: Q68*

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 0.9711 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 98% (65/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,347,815 (GRCm39) V3556A probably damaging Het
Abcb5 T C 12: 118,854,417 (GRCm39) I833V probably benign Het
Adgrd1 A T 5: 129,217,861 (GRCm39) H432L probably benign Het
Alppl2 T A 1: 87,016,463 (GRCm39) I204F probably damaging Het
Ascc3 T A 10: 50,525,262 (GRCm39) F486I probably damaging Het
Bcl9l T A 9: 44,417,449 (GRCm39) L429Q possibly damaging Het
Ccdc33 A T 9: 58,024,445 (GRCm39) Y227* probably null Het
Cd101 A G 3: 100,915,377 (GRCm39) V730A probably damaging Het
Cdadc1 A T 14: 59,811,217 (GRCm39) V431E probably damaging Het
Dazap1 T A 10: 80,110,454 (GRCm39) probably null Het
Dbpht2 T A 12: 74,342,635 (GRCm39) noncoding transcript Het
Dennd4b A T 3: 90,180,362 (GRCm39) T742S probably damaging Het
Dhtkd1 T C 2: 5,907,202 (GRCm39) E838G possibly damaging Het
Dync2h1 A T 9: 7,129,045 (GRCm39) D1823E probably benign Het
Enox1 T A 14: 77,906,233 (GRCm39) N556K probably benign Het
Fam227a T C 15: 79,510,477 (GRCm39) I392M possibly damaging Het
Fnip2 A T 3: 79,388,238 (GRCm39) M831K probably benign Het
Foxn1 T C 11: 78,256,763 (GRCm39) probably benign Het
Garre1 A C 7: 33,956,805 (GRCm39) N353K probably damaging Het
Glis3 T C 19: 28,240,077 (GRCm39) 936 probably benign Het
Gm4953 T A 1: 158,995,923 (GRCm39) noncoding transcript Het
Gsr T G 8: 34,170,288 (GRCm39) probably null Het
Habp4 G T 13: 64,332,420 (GRCm39) V344F probably benign Het
Helb T C 10: 119,930,168 (GRCm39) D737G possibly damaging Het
Hltf A G 3: 20,160,610 (GRCm39) D759G probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Itsn2 A G 12: 4,722,733 (GRCm39) probably benign Het
Kank2 A T 9: 21,705,857 (GRCm39) V387E probably damaging Het
Lefty1 T C 1: 180,765,389 (GRCm39) V319A probably benign Het
Lonp1 T C 17: 56,922,068 (GRCm39) T771A possibly damaging Het
Lpcat2b A T 5: 107,581,716 (GRCm39) K348N possibly damaging Het
Lsamp T C 16: 41,709,430 (GRCm39) V103A probably damaging Het
Ltbp4 A T 7: 27,026,195 (GRCm39) C538S probably damaging Het
Micu1 T C 10: 59,604,035 (GRCm39) S174P probably damaging Het
Mta1 A G 12: 113,099,926 (GRCm39) N607S probably damaging Het
Muc5b C T 7: 141,416,891 (GRCm39) S3279L probably benign Het
Naalad2 T C 9: 18,289,995 (GRCm39) E211G probably damaging Het
Nup155 T A 15: 8,165,311 (GRCm39) M649K probably benign Het
Pan2 T C 10: 128,156,282 (GRCm39) V1171A probably damaging Het
Pisd A G 5: 32,896,209 (GRCm39) V372A probably damaging Het
Prim1 T A 10: 127,859,668 (GRCm39) C288S probably benign Het
Rab23 T A 1: 33,763,019 (GRCm39) C30S probably damaging Het
Sacs A G 14: 61,440,344 (GRCm39) T797A probably benign Het
Sall3 T C 18: 81,015,108 (GRCm39) D940G probably benign Het
Scn1a T C 2: 66,161,615 (GRCm39) E311G probably benign Het
Sdk1 T A 5: 142,129,573 (GRCm39) I1598N probably damaging Het
Slc22a17 A T 14: 55,145,957 (GRCm39) probably null Het
Slc36a4 T A 9: 15,645,506 (GRCm39) V311D probably damaging Het
Sprr3 T A 3: 92,364,253 (GRCm39) Q197L possibly damaging Het
Stab2 A C 10: 86,732,360 (GRCm39) probably null Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Tas2r123 T A 6: 132,824,295 (GRCm39) V64D probably damaging Het
Trhde T G 10: 114,424,336 (GRCm39) N483T possibly damaging Het
Trp53 C T 11: 69,479,323 (GRCm39) T167M probably damaging Het
Tspan8 A G 10: 115,680,035 (GRCm39) I217V probably benign Het
Tut4 T C 4: 108,336,720 (GRCm39) L148P probably benign Het
Usp17la A G 7: 104,509,527 (GRCm39) E44G possibly damaging Het
Usp40 T G 1: 87,906,258 (GRCm39) Q659P probably benign Het
Vmn1r4 T C 6: 56,933,723 (GRCm39) C76R probably damaging Het
Vmn2r118 C T 17: 55,899,925 (GRCm39) G660R probably damaging Het
Zfp786 T A 6: 47,796,691 (GRCm39) H749L 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
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
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'- AAGTCCCGAAGAATCTGCC -3'
(R):5'- GTCATGTTTCCCTCAGGTGC -3'

Sequencing Primer
(F):5'- GAATCTGCCGGCTTCACAAG -3'
(R):5'- AGGTGCCACCCTGGGAG -3'
Posted On 2014-08-25