Incidental Mutation 'R8523:Hdac7'
ID 658682
Institutional Source Beutler Lab
Gene Symbol Hdac7
Ensembl Gene ENSMUSG00000022475
Gene Name histone deacetylase 7
Synonyms Hdac7a, 5830434K02Rik
MMRRC Submission 067948-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8523 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 97690545-97742383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97706251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 304 (H304L)
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: H317L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078766
Gene: ENSMUSG00000022475
AA Change: H317L

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: H304L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085744
Gene: ENSMUSG00000022475
AA Change: H304L

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: H282L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112109
Gene: ENSMUSG00000022475
AA Change: H282L

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: H319L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112110
Gene: ENSMUSG00000022475
AA Change: H319L

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: H319L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113380
Gene: ENSMUSG00000022475
AA Change: H319L

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: H258L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112459
Gene: ENSMUSG00000022475
AA Change: H258L

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: H282L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112446
Gene: ENSMUSG00000022475
AA Change: H282L

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: H282L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112641
Gene: ENSMUSG00000022475
AA Change: H282L

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: 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
Predicted Effect probably damaging
Transcript: ENSMUST00000156045
AA Change: H304L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120576
Gene: ENSMUSG00000022475
AA Change: H304L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Ammecr1l T C 18: 31,905,152 (GRCm39) F131S probably damaging Het
Apbb1ip A C 2: 22,709,648 (GRCm39) D35A unknown Het
Arhgap12 A T 18: 6,111,976 (GRCm39) D129E probably benign Het
Arpc1b A G 5: 145,061,492 (GRCm39) D163G probably damaging Het
Atxn7l1 A T 12: 33,396,023 (GRCm39) T251S probably benign Het
Best1 T C 19: 9,969,027 (GRCm39) I230V possibly damaging Het
Brca2 A G 5: 150,483,613 (GRCm39) T2888A possibly damaging Het
Cad T C 5: 31,215,450 (GRCm39) V87A probably damaging Het
Ccdc168 A T 1: 44,099,994 (GRCm39) I368K possibly damaging Het
Ccdc39 C T 3: 33,869,560 (GRCm39) probably null Het
Clcn1 T A 6: 42,284,523 (GRCm39) C548* probably null Het
Col18a1 A G 10: 76,890,068 (GRCm39) S1678P probably damaging Het
Col6a6 T C 9: 105,651,987 (GRCm39) N1008S possibly damaging Het
Defb41 A T 1: 18,321,519 (GRCm39) C32S possibly damaging Het
Dnah6 T C 6: 73,072,171 (GRCm39) N2437S probably damaging Het
Drosha T C 15: 12,834,408 (GRCm39) Y171H unknown Het
Ehd1 T C 19: 6,344,613 (GRCm39) L291P probably damaging Het
Eif3c A T 7: 126,147,069 (GRCm39) H734Q possibly damaging Het
Erich5 A T 15: 34,471,502 (GRCm39) T244S probably benign Het
Fam186b T A 15: 99,177,613 (GRCm39) H571L probably benign Het
Fer1l5 A G 1: 36,426,271 (GRCm39) K360E probably benign Het
Fga A T 3: 82,938,158 (GRCm39) I178F probably damaging Het
Gale A T 4: 135,694,987 (GRCm39) T320S probably benign Het
Gm11232 A T 4: 71,675,465 (GRCm39) S99T probably benign Het
Gpr137 C T 19: 6,917,803 (GRCm39) W94* probably null Het
Grm7 T A 6: 111,223,280 (GRCm39) M440K possibly damaging Het
Hacd4 A G 4: 88,353,286 (GRCm39) F69L probably damaging Het
Herc1 T A 9: 66,358,224 (GRCm39) I2435N probably benign Het
Itgb7 G A 15: 102,124,957 (GRCm39) R755W probably damaging Het
Kdm3b G T 18: 34,926,129 (GRCm39) A90S probably benign Het
Mcmdc2 G A 1: 9,981,946 (GRCm39) M1I probably null Het
Mitd1 A G 1: 37,918,639 (GRCm39) probably null Het
Myh10 A T 11: 68,688,235 (GRCm39) Q1232L probably benign Het
Myo1a C A 10: 127,547,027 (GRCm39) N362K probably damaging Het
N4bp1 G A 8: 87,579,789 (GRCm39) T671I probably damaging Het
Nav3 A T 10: 109,659,138 (GRCm39) D826E probably damaging Het
Negr1 C T 3: 156,866,297 (GRCm39) T282M probably damaging Het
Notch1 G A 2: 26,354,917 (GRCm39) H1837Y possibly damaging Het
Or2m12 A T 16: 19,104,851 (GRCm39) V214E probably benign Het
Or52e19b A T 7: 103,032,413 (GRCm39) F265L probably benign Het
Or5m13 T A 2: 85,748,407 (GRCm39) I46N probably damaging Het
Or7e177 A G 9: 20,212,093 (GRCm39) N200S probably benign Het
Pard6a T C 8: 106,428,881 (GRCm39) C47R probably benign Het
Parp2 T C 14: 51,057,247 (GRCm39) probably null Het
Pck1 C A 2: 172,999,064 (GRCm39) A410D probably damaging Het
Pdzph1 G A 17: 59,191,008 (GRCm39) L85F probably damaging Het
Piezo2 A G 18: 63,279,873 (GRCm39) S1P probably damaging Het
Pld1 T A 3: 28,140,025 (GRCm39) V615D probably damaging Het
Plekha7 T G 7: 115,907,164 (GRCm39) I23L probably benign Het
Prkcz T G 4: 155,346,968 (GRCm39) D388A probably damaging Het
Rab36 A G 10: 74,888,335 (GRCm39) R260G probably benign Het
Reln C A 5: 22,209,229 (GRCm39) R1116S probably damaging Het
Rskr A T 11: 78,184,210 (GRCm39) M225L probably benign Het
Rundc3b T G 5: 8,619,505 (GRCm39) K151Q probably damaging Het
Scaf11 A G 15: 96,316,988 (GRCm39) S859P probably damaging Het
Slc25a32 C T 15: 38,963,281 (GRCm39) R180H probably benign Het
Slc4a9 G A 18: 36,665,196 (GRCm39) G443E possibly damaging Het
Slmap T A 14: 26,150,965 (GRCm39) K534N probably damaging Het
Sncaip G A 18: 52,971,088 (GRCm39) A3T probably damaging Het
Spata31d1c G T 13: 65,180,991 (GRCm39) S30I probably damaging Het
Srrm1 A T 4: 135,051,313 (GRCm39) V789E unknown Het
Srrm2 A T 17: 24,027,489 (GRCm39) probably benign Het
St7l T C 3: 104,775,373 (GRCm39) F83S probably damaging Het
Taf15 C T 11: 83,375,678 (GRCm39) Q48* probably null Het
Tek A T 4: 94,687,403 (GRCm39) D172V probably benign Het
Tmem232 T C 17: 65,785,366 (GRCm39) Y198C probably damaging Het
Tns3 A T 11: 8,398,779 (GRCm39) V1191E probably damaging Het
Togaram1 A G 12: 65,067,088 (GRCm39) D1710G probably damaging Het
Trav16d-dv11 T C 14: 53,285,122 (GRCm39) I66T probably benign Het
Ttn T A 2: 76,577,289 (GRCm39) T24535S possibly damaging Het
Ttn A T 2: 76,730,087 (GRCm39) L911* probably null Het
Ube4a A G 9: 44,861,130 (GRCm39) S227P probably damaging Het
Ubqln1 T C 13: 58,339,569 (GRCm39) T352A probably benign Het
Vmn1r174 C T 7: 23,454,182 (GRCm39) P283S probably damaging Het
Vmn1r59 T C 7: 5,457,053 (GRCm39) T236A probably damaging Het
Vmn2r3 T C 3: 64,182,311 (GRCm39) I463V probably benign Het
Wdr95 A G 5: 149,497,461 (GRCm39) D213G probably damaging Het
Zbtb49 T A 5: 38,370,669 (GRCm39) H404L probably damaging Het
Zfp879 A G 11: 50,728,757 (GRCm39) M79T probably benign Het
Zmiz2 G A 11: 6,352,441 (GRCm39) C600Y 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
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
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'- TTAAGTGGTCGATGGAGGCC -3'
(R):5'- TCTTCCAGGCTGATGGTGAC -3'

Sequencing Primer
(F):5'- CGCTCGGTGGTCAGTAAG -3'
(R):5'- AGGCTGATGGTGACCGCAG -3'
Posted On 2021-01-18