Incidental Mutation 'R1543:Hdac7'
ID 171956
Institutional Source Beutler Lab
Gene Symbol Hdac7
Ensembl Gene ENSMUSG00000022475
Gene Name histone deacetylase 7
Synonyms Hdac7a, 5830434K02Rik
MMRRC Submission 039582-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1543 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 97690545-97742383 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 97707410 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 benign
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 benign
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 benign
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 benign
Transcript: ENSMUST00000116409
SMART Domains Protein: ENSMUSP00000112110
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 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: 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 benign
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 benign
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 benign
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 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 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 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.2%
Validation Efficiency 95% (77/81)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik G A 6: 40,945,138 (GRCm39) V206I probably damaging Het
Abca8b A C 11: 109,865,500 (GRCm39) M319R probably damaging Het
Abcc6 T C 7: 45,665,928 (GRCm39) R231G probably benign Het
Acadm A G 3: 153,635,209 (GRCm39) Y302H probably damaging Het
Acox3 C A 5: 35,760,352 (GRCm39) R423S probably damaging Het
Adam7 T A 14: 68,759,371 (GRCm39) probably benign Het
Adgrb3 A C 1: 25,527,169 (GRCm39) M589R probably benign Het
Adgrl2 A C 3: 148,564,909 (GRCm39) F224V probably damaging Het
Adm2 G C 15: 89,208,282 (GRCm39) G74A probably damaging Het
Aen T A 7: 78,552,370 (GRCm39) V15E probably damaging Het
Ankzf1 T A 1: 75,169,160 (GRCm39) V22D possibly damaging Het
Arap2 T A 5: 62,763,498 (GRCm39) K1549* probably null Het
Arhgef11 G A 3: 87,620,324 (GRCm39) R430H probably benign Het
Asb17 T G 3: 153,550,148 (GRCm39) L60W probably damaging Het
BC035044 T C 6: 128,867,948 (GRCm39) probably benign Het
Bltp2 A G 11: 78,166,000 (GRCm39) T1422A probably benign Het
Cacna2d1 A T 5: 16,471,716 (GRCm39) M254L possibly damaging Het
Celf6 T C 9: 59,511,160 (GRCm39) probably benign Het
Cemip2 G T 19: 21,789,937 (GRCm39) A668S probably benign Het
Coro2b C T 9: 62,333,123 (GRCm39) V120I probably benign Het
Cyp20a1 C A 1: 60,415,353 (GRCm39) probably benign Het
Cyp2c67 C A 19: 39,631,708 (GRCm39) probably benign Het
Dclk3 A G 9: 111,297,122 (GRCm39) H222R probably benign Het
Deaf1 A G 7: 140,904,060 (GRCm39) S109P possibly damaging Het
Dlg5 T A 14: 24,194,516 (GRCm39) D1675V probably damaging Het
Dsg2 T A 18: 20,727,268 (GRCm39) V605E probably benign Het
Dync2i1 T C 12: 116,195,404 (GRCm39) probably benign Het
Frem2 A T 3: 53,479,876 (GRCm39) I1939N possibly damaging Het
Fsip2 A T 2: 82,811,931 (GRCm39) Y2750F possibly damaging Het
Gpr39 T A 1: 125,800,161 (GRCm39) I304N probably damaging Het
Hipk1 T C 3: 103,685,480 (GRCm39) H45R probably benign Het
Hyal2 T C 9: 107,447,386 (GRCm39) L13P probably damaging Het
Kdm1b C T 13: 47,221,997 (GRCm39) R479W probably damaging Het
Lilrb4b A G 10: 51,357,517 (GRCm39) T118A probably damaging Het
Lin7a C A 10: 107,247,930 (GRCm39) F78L possibly damaging Het
Lpin3 A G 2: 160,737,310 (GRCm39) D119G possibly damaging Het
Lrp2 G A 2: 69,331,074 (GRCm39) R1661C probably damaging Het
Lrrc45 A G 11: 120,610,844 (GRCm39) K527E probably benign Het
Map10 C T 8: 126,397,611 (GRCm39) P335S probably benign Het
Mast3 A G 8: 71,244,955 (GRCm39) S2P possibly damaging Het
Mbtps1 A G 8: 120,268,808 (GRCm39) probably benign Het
Mms22l T A 4: 24,591,084 (GRCm39) N1018K probably benign Het
Nckipsd C A 9: 108,689,571 (GRCm39) A244D possibly damaging Het
Nt5el A T 13: 105,248,877 (GRCm39) R364* probably null Het
Or12k5 C A 2: 36,895,139 (GRCm39) L162F probably damaging Het
Or1j1 A T 2: 36,703,069 (GRCm39) F12I probably damaging Het
Or4k44 A G 2: 111,368,142 (GRCm39) V164A probably benign Het
Or52j3 T A 7: 102,836,421 (GRCm39) F204L probably benign Het
Or8b12c T A 9: 37,715,243 (GRCm39) I12N possibly damaging Het
Pcx A T 19: 4,652,251 (GRCm39) D112V probably damaging Het
Phf14 G A 6: 11,987,682 (GRCm39) probably null Het
Pkd1l1 A G 11: 8,851,200 (GRCm39) I744T probably damaging Het
Ppip5k2 A G 1: 97,668,607 (GRCm39) L560P probably damaging Het
Psmd14 A T 2: 61,615,874 (GRCm39) M248L probably benign Het
Ryr1 T G 7: 28,782,962 (GRCm39) E1884A possibly damaging Het
Scn4b T A 9: 45,061,727 (GRCm39) S204R probably damaging Het
Slc12a1 A T 2: 125,026,777 (GRCm39) M471L possibly damaging Het
Slc17a5 A G 9: 78,468,082 (GRCm39) V236A probably benign Het
Sobp T C 10: 42,897,720 (GRCm39) T622A probably damaging Het
Spata31d1a G T 13: 59,850,056 (GRCm39) R691S probably benign Het
Speg A G 1: 75,398,595 (GRCm39) E2014G probably damaging Het
Steap4 A G 5: 8,025,902 (GRCm39) probably benign Het
Tas2r144 G A 6: 42,192,537 (GRCm39) M92I probably benign Het
Tbc1d5 T C 17: 51,242,560 (GRCm39) Q179R probably benign Het
Tcf25 T C 8: 124,115,326 (GRCm39) Y188H probably benign Het
Tmem200a G A 10: 25,954,518 (GRCm39) probably benign Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Tssk5 T C 15: 76,256,409 (GRCm39) T337A probably benign Het
Ttc23 T C 7: 67,328,743 (GRCm39) V228A probably benign Het
Tulp1 A T 17: 28,581,645 (GRCm39) probably benign Het
Uqcc3 A G 19: 8,858,117 (GRCm39) F25L probably damaging Het
Vmn2r1 G A 3: 63,996,994 (GRCm39) G217S probably damaging Het
Vmn2r120 C T 17: 57,829,374 (GRCm39) E508K probably benign Het
Wdfy3 C A 5: 101,991,947 (GRCm39) V3451L probably benign Het
Wdr19 G A 5: 65,382,033 (GRCm39) V418I probably benign Het
Xirp2 C T 2: 67,338,383 (GRCm39) T208I probably benign Het
Xpnpep1 A G 19: 52,980,107 (GRCm39) V639A 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
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
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'- AATGTCAGCTCAGGAGACTCAGCG -3'
(R):5'- GGTGGATTGGGACAGTTAGCACAC -3'

Sequencing Primer
(F):5'- AGTCCCACGTTGGAGGAAC -3'
(R):5'- cacacacacacacacacatac -3'
Posted On 2014-04-13