Mutagenetix > Incidental Mutation

Incidental Mutation 'R1623:Hdac7'

174826

Institutional Source

Beutler Lab

Gene Symbol

Hdac7

Ensembl Gene

ENSMUSG00000022475

Gene Name

histone deacetylase 7

Synonyms

Hdac7a, 5830434K02Rik

MMRRC Submission

039660-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1623 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97690545-97742383 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 97706285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 293 (Q293*)

Ref Sequence

ENSEMBL: ENSMUSP00000120576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079838] [ENSMUST00000088402] [ENSMUST00000116408] [ENSMUST00000116409] [ENSMUST00000118294] [ENSMUST00000119670] [ENSMUST00000120683] [ENSMUST00000156045] [ENSMUST00000121514]

AlphaFold

Q8C2B3

Predicted Effect

probably null
Transcript: ENSMUST00000079838
AA Change: Q306*

SMART Domains

Protein: ENSMUSP00000078766
Gene: ENSMUSG00000022475
AA Change: Q306*

Domain	Start	End	E-Value	Type
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: Q293*

SMART Domains

Protein: ENSMUSP00000085744
Gene: ENSMUSG00000022475
AA Change: Q293*

Domain	Start	End	E-Value	Type
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: Q271*

SMART Domains

Protein: ENSMUSP00000112109
Gene: ENSMUSG00000022475
AA Change: Q271*

Domain	Start	End	E-Value	Type
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: Q308*

SMART Domains

Protein: ENSMUSP00000112110
Gene: ENSMUSG00000022475
AA Change: Q308*

Domain	Start	End	E-Value	Type
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: Q308*

SMART Domains

Protein: ENSMUSP00000113380
Gene: ENSMUSG00000022475
AA Change: Q308*

Domain	Start	End	E-Value	Type
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: Q247*

SMART Domains

Protein: ENSMUSP00000112459
Gene: ENSMUSG00000022475
AA Change: Q247*

Domain	Start	End	E-Value	Type
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: Q271*

SMART Domains

Protein: ENSMUSP00000112446
Gene: ENSMUSG00000022475
AA Change: Q271*

Domain	Start	End	E-Value	Type
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: ENSMUST00000156045
AA Change: Q293*

SMART Domains

Protein: ENSMUSP00000120576
Gene: ENSMUSG00000022475
AA Change: Q293*

Domain	Start	End	E-Value	Type
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: ENSMUST00000121514
AA Change: Q271*

SMART Domains

Protein: ENSMUSP00000112641
Gene: ENSMUSG00000022475
AA Change: Q271*

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000228466

Predicted Effect

probably benign
Transcript: ENSMUST00000134258

SMART Domains

Protein: ENSMUSP00000118599
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 94.9%
20x: 87.6%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	A	T	2: 22,984,356 (GRCm39)	D294V	probably damaging	Het
Actn2	A	T	13: 12,355,320 (GRCm39)	I21N	probably benign	Het
Adamts2	C	A	11: 50,558,942 (GRCm39)	P219H	possibly damaging	Het
Atg16l2	A	G	7: 100,939,113 (GRCm39)	F584L	probably benign	Het
Ccdc81	C	T	7: 89,535,390 (GRCm39)	R282Q	probably benign	Het
Ccn4	G	T	15: 66,763,448 (GRCm39)	V12L	possibly damaging	Het
Cd200r3	G	A	16: 44,771,811 (GRCm39)	C25Y	possibly damaging	Het
Cdkl4	C	T	17: 80,863,731 (GRCm39)		probably null	Het
Chrne	T	C	11: 70,509,254 (GRCm39)	E109G	possibly damaging	Het
Clmp	A	G	9: 40,693,856 (GRCm39)	T358A	probably benign	Het
Cmtr1	G	T	17: 29,906,021 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,343,699 (GRCm39)	E389G	probably damaging	Het
Ctc1	C	T	11: 68,911,968 (GRCm39)	T49M	probably damaging	Het
Cyth3	T	A	5: 143,687,127 (GRCm39)	M120K	probably damaging	Het
D430041D05Rik	T	A	2: 103,983,308 (GRCm39)	E1996V	probably damaging	Het
Dnah9	T	C	11: 65,928,463 (GRCm39)	M2069V	probably damaging	Het
Dsg1c	T	C	18: 20,408,234 (GRCm39)	Y428H	probably damaging	Het
Exosc8	T	A	3: 54,641,752 (GRCm39)	T7S	probably damaging	Het
F5	A	G	1: 164,023,191 (GRCm39)	Y1583C	probably damaging	Het
Fam178b	A	G	1: 36,683,405 (GRCm39)	I105T	probably damaging	Het
Fam181a	T	A	12: 103,282,591 (GRCm39)	Y165*	probably null	Het
Fbn2	G	T	18: 58,181,620 (GRCm39)	N1880K	possibly damaging	Het
Gbgt1	A	T	2: 28,394,988 (GRCm39)	M209L	probably benign	Het
Gkn2	C	A	6: 87,355,152 (GRCm39)	Y120*	probably null	Het
Gm14295	T	A	2: 176,499,157 (GRCm39)	D1E	probably damaging	Het
Gpr141	A	T	13: 19,936,082 (GRCm39)		probably null	Het
Gramd2b	C	A	18: 56,565,423 (GRCm39)	P26Q	probably benign	Het
Greb1	A	G	12: 16,724,771 (GRCm39)	I1801T	probably damaging	Het
Gstm3	T	A	3: 107,875,151 (GRCm39)	I64F	possibly damaging	Het
Gtse1	A	G	15: 85,751,779 (GRCm39)	Y324C	probably benign	Het
Hal	C	G	10: 93,352,159 (GRCm39)	T650R	probably benign	Het
Hdlbp	A	T	1: 93,351,591 (GRCm39)	N437K	probably damaging	Het
Hif1an	A	G	19: 44,557,862 (GRCm39)	D248G	probably damaging	Het
Hivep3	T	C	4: 119,952,901 (GRCm39)	S406P	possibly damaging	Het
Hmcn2	A	T	2: 31,348,051 (GRCm39)	D4899V	possibly damaging	Het
Ikzf3	C	T	11: 98,381,157 (GRCm39)		probably null	Het
Inka2	G	A	3: 105,624,136 (GRCm39)	G151D	probably damaging	Het
Itgb4	C	A	11: 115,882,142 (GRCm39)	Y819*	probably null	Het
Itpripl1	T	C	2: 126,983,555 (GRCm39)	D189G	possibly damaging	Het
Kmt2e	A	G	5: 23,687,500 (GRCm39)	Y450C	probably damaging	Het
Mc4r	A	G	18: 66,993,068 (GRCm39)	L15P	probably benign	Het
Mical1	T	G	10: 41,357,389 (GRCm39)		probably null	Het
Mical3	C	T	6: 121,001,768 (GRCm39)	V575M	probably damaging	Het
Mki67	A	T	7: 135,310,547 (GRCm39)		probably null	Het
Mocs2	G	A	13: 114,961,158 (GRCm39)	E52K	probably benign	Het
Myo7b	T	C	18: 32,133,104 (GRCm39)	N415S	probably damaging	Het
Notch1	G	A	2: 26,368,624 (GRCm39)	T555I	possibly damaging	Het
Notch3	T	C	17: 32,358,165 (GRCm39)	D1686G	probably benign	Het
Oit3	A	G	10: 59,264,061 (GRCm39)	F358L	probably damaging	Het
Or10x1	A	C	1: 174,196,515 (GRCm39)	I11L	probably benign	Het
Or6k4	A	T	1: 173,964,883 (GRCm39)	D191V	probably damaging	Het
Orai1	T	A	5: 123,167,265 (GRCm39)	I146N	probably damaging	Het
Pck1	A	G	2: 172,996,511 (GRCm39)	I142V	probably benign	Het
Pdap1	C	T	5: 145,069,739 (GRCm39)	V89M	possibly damaging	Het
Phf11a	T	C	14: 59,525,000 (GRCm39)	D68G	possibly damaging	Het
Pilrb2	T	C	5: 137,869,510 (GRCm39)	N30S	probably damaging	Het
Pkd1	G	A	17: 24,797,243 (GRCm39)	V2551I	probably damaging	Het
Pnpla7	T	C	2: 24,942,611 (GRCm39)	V132A	probably damaging	Het
Prr35	G	A	17: 26,166,508 (GRCm39)	P343L	probably benign	Het
Rad18	C	T	6: 112,605,480 (GRCm39)	S398N	probably damaging	Het
Rdh16f1	C	A	10: 127,626,722 (GRCm39)	N258K	probably benign	Het
Riox2	A	G	16: 59,303,405 (GRCm39)	H240R	probably damaging	Het
Ruvbl1	C	T	6: 88,462,752 (GRCm39)	A292V	probably damaging	Het
Ryr1	C	T	7: 28,794,915 (GRCm39)	G1151S	probably damaging	Het
Serpinb9b	T	C	13: 33,213,548 (GRCm39)	I35T	possibly damaging	Het
Slc1a1	T	A	19: 28,882,122 (GRCm39)	M328K	probably benign	Het
Slc7a13	A	T	4: 19,824,031 (GRCm39)	T267S	possibly damaging	Het
Speer3	G	T	5: 13,846,335 (GRCm39)	M218I	probably benign	Het
Sptan1	A	G	2: 29,876,432 (GRCm39)	I271V	probably damaging	Het
Swap70	A	G	7: 109,863,255 (GRCm39)	T195A	probably benign	Het
Tgs1	T	A	4: 3,585,964 (GRCm39)	N280K	probably benign	Het
Tonsl	A	G	15: 76,522,709 (GRCm39)	C181R	probably damaging	Het
Trdn	A	G	10: 33,134,098 (GRCm39)	K333R	possibly damaging	Het
Trpc4	T	A	3: 54,206,600 (GRCm39)	M600K	probably damaging	Het
Ubr3	C	T	2: 69,808,067 (GRCm39)	Q1183*	probably null	Het
Ubxn4	T	A	1: 128,200,588 (GRCm39)	L360I	possibly damaging	Het
Ugt2b1	T	A	5: 87,074,267 (GRCm39)	T31S	probably benign	Het
Uspl1	T	C	5: 149,152,009 (GRCm39)	S1056P	probably damaging	Het
Vmn2r60	A	T	7: 41,785,279 (GRCm39)	K164*	probably null	Het
Vwce	T	A	19: 10,624,108 (GRCm39)	L333*	probably null	Het
Wdr95	T	A	5: 149,497,581 (GRCm39)	L253Q	probably damaging	Het
Zfp113	T	C	5: 138,143,930 (GRCm39)	M107V	probably benign	Het
Zfp142	T	C	1: 74,610,934 (GRCm39)	T851A	possibly damaging	Het

Other mutations in Hdac7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CAAGGCTTGGCAAGGAGTTACAAAC -3'
(R):5'- ATACCAGGGGTAGTGTTCCAGGACTG -3'

Sequencing Primer
(F):5'- TTACAAACAGTGAGGGACTGG -3'
(R):5'- TGCAGGAGACTTCTCTGGC -3'

Posted On

2014-04-24