Incidental Mutation 'R7753:Hdac7'
ID 597398
Institutional Source Beutler Lab
Gene Symbol Hdac7
Ensembl Gene ENSMUSG00000022475
Gene Name histone deacetylase 7
Synonyms Hdac7a, 5830434K02Rik
MMRRC Submission 045809-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7753 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 97690545-97742383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97698642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 638 (N638K)
Ref Sequence ENSEMBL: ENSMUSP00000112110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079838] [ENSMUST00000088402] [ENSMUST00000116408] [ENSMUST00000116409] [ENSMUST00000118294] [ENSMUST00000119670] [ENSMUST00000120683] [ENSMUST00000121514] [ENSMUST00000156045]
AlphaFold Q8C2B3
Predicted Effect possibly damaging
Transcript: ENSMUST00000079838
AA Change: N629K

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078766
Gene: ENSMUSG00000022475
AA Change: N629K

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 possibly damaging
Transcript: ENSMUST00000088402
AA Change: N623K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000085744
Gene: ENSMUSG00000022475
AA Change: N623K

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 possibly damaging
Transcript: ENSMUST00000116408
AA Change: N601K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112109
Gene: ENSMUSG00000022475
AA Change: N601K

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 possibly damaging
Transcript: ENSMUST00000116409
AA Change: N638K

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112110
Gene: ENSMUSG00000022475
AA Change: N638K

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 possibly damaging
Transcript: ENSMUST00000118294
AA Change: N631K

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113380
Gene: ENSMUSG00000022475
AA Change: N631K

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 possibly damaging
Transcript: ENSMUST00000119670
AA Change: N577K

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112459
Gene: ENSMUSG00000022475
AA Change: N577K

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
AA Change: N601K

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112446
Gene: ENSMUSG00000022475
AA Change: N601K

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: N536K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112641
Gene: ENSMUSG00000022475
AA Change: N536K

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,074,933 (GRCm39) T1377A probably damaging Het
AI661453 G T 17: 47,778,439 (GRCm39) E722* probably null Het
Ap2b1 A T 11: 83,258,733 (GRCm39) K735* probably null Het
Aqp4 T C 18: 15,533,033 (GRCm39) E20G probably benign Het
Atp6v1b1 G T 6: 83,729,440 (GRCm39) V117L probably benign Het
C1rb A G 6: 124,557,390 (GRCm39) N509S probably benign Het
Cep44 A G 8: 56,985,842 (GRCm39) V350A probably benign Het
Cmya5 T C 13: 93,234,680 (GRCm39) Q136R probably benign Het
Cntrl T C 2: 35,001,691 (GRCm39) S32P probably damaging Het
Cyp2d12 A T 15: 82,441,164 (GRCm39) E201V possibly damaging Het
Cyp4a14 G T 4: 115,350,861 (GRCm39) Q138K probably damaging Het
Dapk1 T C 13: 60,899,007 (GRCm39) Y826H possibly damaging Het
Dbh A G 2: 27,061,448 (GRCm39) D294G probably benign Het
Ddx10 A T 9: 53,136,904 (GRCm39) L336Q probably damaging Het
Dop1a A G 9: 86,371,755 (GRCm39) T149A possibly damaging Het
Epg5 A G 18: 77,991,560 (GRCm39) T86A possibly damaging Het
Fam171a1 A T 2: 3,179,354 (GRCm39) Q60L probably damaging Het
Farsb T A 1: 78,456,740 (GRCm39) E41D probably benign Het
Frem1 T C 4: 82,832,217 (GRCm39) D1956G probably benign Het
Fzd4 T A 7: 89,056,992 (GRCm39) Y346* probably null Het
Fzd7 A T 1: 59,522,641 (GRCm39) S175C probably benign Het
Gdi2 A G 13: 3,598,956 (GRCm39) T47A probably benign Het
Gpr155 A T 2: 73,212,550 (GRCm39) H24Q probably benign Het
Hnrnpul2 T C 19: 8,802,336 (GRCm39) V401A probably damaging Het
Ifi27l2b T A 12: 103,417,519 (GRCm39) R223* probably null Het
Igkv4-91 T G 6: 68,745,761 (GRCm39) S46R probably benign Het
Itk T A 11: 46,222,722 (GRCm39) L582F probably damaging Het
Kcnab2 T C 4: 152,481,218 (GRCm39) I181V probably benign Het
Krtap5-2 GCCACAGCCTCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCTCC GCCACAGCCTCC 7: 141,729,136 (GRCm39) probably benign Het
Lce1m C A 3: 92,925,815 (GRCm39) G41W unknown Het
Mapk10 T A 5: 103,186,419 (GRCm39) K98* probably null Het
Mapk8ip2 A G 15: 89,345,856 (GRCm39) E812G probably damaging Het
Mlh1 C A 9: 111,081,931 (GRCm39) probably null Het
Mroh1 A G 15: 76,317,475 (GRCm39) D784G possibly damaging Het
Neo1 A T 9: 58,863,288 (GRCm39) D426E probably benign Het
Nol4 T A 18: 23,171,659 (GRCm39) M1L probably benign Het
Nr1h3 A G 2: 91,015,370 (GRCm39) F338S probably damaging Het
Oasl2 A G 5: 115,043,118 (GRCm39) K297E probably benign Het
Or10ag59 A G 2: 87,406,141 (GRCm39) T238A probably benign Het
Or10z1 C T 1: 174,078,236 (GRCm39) V86I probably benign Het
Or4f14 A G 2: 111,742,927 (GRCm39) I116T probably benign Het
Or56a5 T C 7: 104,793,007 (GRCm39) I164M probably benign Het
Or5m5 A G 2: 85,815,060 (GRCm39) N292S possibly damaging Het
Osbpl9 T C 4: 108,990,970 (GRCm39) T97A possibly damaging Het
P3h2 A T 16: 25,789,687 (GRCm39) Y527N probably damaging Het
Papss2 A T 19: 32,597,579 (GRCm39) H9L probably benign Het
Pcdha4 C A 18: 37,086,354 (GRCm39) S179Y possibly damaging Het
Ppt1 A T 4: 122,730,131 (GRCm39) D28V possibly damaging Het
Prkcz T A 4: 155,357,425 (GRCm39) Q345L possibly damaging Het
Prr14l G T 5: 32,984,597 (GRCm39) L1633I probably damaging Het
Prss51 T A 14: 64,333,376 (GRCm39) V13D possibly damaging Het
Qrich2 TTGCAACACACCAGGCTGAACTGGACCTTGCTG TTG 11: 116,347,868 (GRCm39) probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Slc2a7 T C 4: 150,239,141 (GRCm39) I122T possibly damaging Het
Spata31e4 A T 13: 50,855,817 (GRCm39) D485V probably damaging Het
Sprr3 G A 3: 92,364,415 (GRCm39) P143L probably benign Het
Sugct A T 13: 17,752,104 (GRCm39) S181T possibly damaging Het
Syne2 G A 12: 76,085,697 (GRCm39) R141Q probably benign Het
Taok1 T C 11: 77,428,725 (GRCm39) I992V probably benign Het
Tbc1d21 A C 9: 58,269,306 (GRCm39) probably null Het
Thada T C 17: 84,559,818 (GRCm39) D1453G probably damaging Het
Thoc5 T C 11: 4,852,156 (GRCm39) L104S probably damaging Het
Tln2 T G 9: 67,302,755 (GRCm39) Y72S probably damaging Het
Tmem98 A G 11: 80,705,137 (GRCm39) E75G probably damaging Het
Tox3 A G 8: 90,975,560 (GRCm39) L357P probably damaging Het
Ubr4 T C 4: 139,197,603 (GRCm39) V4492A unknown Het
Ulk4 A G 9: 121,095,578 (GRCm39) probably null Het
Ush2a A G 1: 188,175,603 (GRCm39) T1234A probably benign Het
Usp53 G A 3: 122,742,887 (GRCm39) T683I probably damaging Het
Vcan T A 13: 89,837,442 (GRCm39) I2701F probably damaging Het
Vmn2r72 G A 7: 85,399,834 (GRCm39) A405V probably damaging Het
Vmn2r96 A T 17: 18,806,663 (GRCm39) T537S possibly damaging Het
Vstm2a G T 11: 16,213,040 (GRCm39) A142S probably damaging Het
Zbtb41 A G 1: 139,374,895 (GRCm39) D785G probably benign Het
Zfp397 A T 18: 24,090,129 (GRCm39) Q144H probably benign Het
Zfp518a A T 19: 40,904,249 (GRCm39) T1393S possibly 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
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'- TCCACACGGAATAAGAAGGC -3'
(R):5'- ACACTGGGAAGAAGTTCTCCCG -3'

Sequencing Primer
(F):5'- CTAAAGGCTGGGACTTGGACTCAC -3'
(R):5'- AAGAAGTTCTCCCGGGACTG -3'
Posted On 2019-11-26