Mutagenetix > Incidental Mutation

Incidental Mutation 'R9516:Hdac5'

718598

Institutional Source

Beutler Lab

Gene Symbol

Hdac5

Ensembl Gene

ENSMUSG00000008855

Gene Name

histone deacetylase 5

Synonyms

mHDA1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102085244-102120968 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102093522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 493 (T493A)

Ref Sequence

ENSEMBL: ENSMUSP00000008999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008999] [ENSMUST00000107150] [ENSMUST00000107151] [ENSMUST00000107152] [ENSMUST00000124077] [ENSMUST00000131254] [ENSMUST00000156337]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000008999
AA Change: T493A

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855
AA Change: T493A

Domain	Start	End	E-Value	Type
low complexity region	58	75	N/A	INTRINSIC
Pfam:HDAC4_Gln	86	174	1e-30	PFAM
low complexity region	233	247	N/A	INTRINSIC
low complexity region	322	337	N/A	INTRINSIC
low complexity region	502	541	N/A	INTRINSIC
low complexity region	560	577	N/A	INTRINSIC
coiled coil region	583	617	N/A	INTRINSIC
Pfam:Hist_deacetyl	704	1034	1.4e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107150
AA Change: T474A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
AA Change: T474A

Domain	Start	End	E-Value	Type
low complexity region	39	56	N/A	INTRINSIC
Pfam:HDAC4_Gln	66	155	5.1e-37	PFAM
low complexity region	214	228	N/A	INTRINSIC
low complexity region	303	318	N/A	INTRINSIC
low complexity region	483	522	N/A	INTRINSIC
low complexity region	541	558	N/A	INTRINSIC
coiled coil region	564	598	N/A	INTRINSIC
Pfam:Hist_deacetyl	685	1015	9.4e-91	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107151
AA Change: T475A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
AA Change: T475A

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
Pfam:HDAC4_Gln	67	156	1.1e-37	PFAM
low complexity region	215	229	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
low complexity region	484	523	N/A	INTRINSIC
low complexity region	542	559	N/A	INTRINSIC
coiled coil region	565	599	N/A	INTRINSIC
Pfam:Hist_deacetyl	618	931	1.2e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107152
AA Change: T475A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
AA Change: T475A

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
Pfam:HDAC4_Gln	67	156	3.7e-37	PFAM
low complexity region	215	229	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
low complexity region	484	523	N/A	INTRINSIC
low complexity region	542	559	N/A	INTRINSIC
coiled coil region	565	599	N/A	INTRINSIC
Pfam:Hist_deacetyl	686	1016	6.4e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124077

SMART Domains

Protein: ENSMUSP00000116672
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
low complexity region	37	50	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131254

SMART Domains

Protein: ENSMUSP00000118108
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
low complexity region	30	47	N/A	INTRINSIC
Pfam:HDAC4_Gln	57	146	1.5e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156337

SMART Domains

Protein: ENSMUSP00000116646
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC
Pfam:HDAC4_Gln	25	114	2e-38	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 belongs to the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and display cardiac hypertrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3300002I08Rik	T	C	2: 150,153,122 (GRCm39)	N88D	possibly damaging	Het
4933430I17Rik	A	G	4: 62,460,916 (GRCm39)	I264V	probably benign	Het
Abcc8	A	G	7: 45,787,429 (GRCm39)	F591L	probably benign	Het
Abr	G	T	11: 76,310,658 (GRCm39)	T810K	probably damaging	Het
Abracl	T	C	10: 17,894,631 (GRCm39)	E6G	unknown	Het
Adamts3	A	T	5: 89,834,750 (GRCm39)	Y871N	probably damaging	Het
Akap13	T	C	7: 75,354,275 (GRCm39)	Y80H	probably benign	Het
Alas1	A	G	9: 106,115,840 (GRCm39)		probably null	Het
Anapc1	A	C	2: 128,517,633 (GRCm39)	L337R	possibly damaging	Het
Apaf1	T	C	10: 90,915,816 (GRCm39)	Y24C	probably damaging	Het
Arhgef16	A	G	4: 154,365,432 (GRCm39)	V561A	possibly damaging	Het
Atp10b	T	A	11: 43,121,224 (GRCm39)	H962Q	probably benign	Het
Brsk2	A	G	7: 141,546,852 (GRCm39)	T432A	probably benign	Het
C1rl	T	A	6: 124,485,802 (GRCm39)	V391E	probably damaging	Het
Caps2	A	T	10: 112,036,637 (GRCm39)	H399L	probably benign	Het
Ccdc43	C	A	11: 102,577,207 (GRCm39)	K199N	probably benign	Het
Ccdc7a	G	T	8: 129,555,774 (GRCm39)	P1198T	unknown	Het
Cct7	A	G	6: 85,444,625 (GRCm39)	Y423C	possibly damaging	Het
Cep112	A	G	11: 108,648,514 (GRCm39)	T783A	probably damaging	Het
Cep250	A	G	2: 155,833,459 (GRCm39)	T1795A	probably benign	Het
Clasp1	T	G	1: 118,431,560 (GRCm39)	S397A	possibly damaging	Het
Clock	A	C	5: 76,377,227 (GRCm39)	F691V	possibly damaging	Het
Cmklr1	A	G	5: 113,752,341 (GRCm39)	V220A	probably benign	Het
Coro2b	A	T	9: 62,335,291 (GRCm39)	Y298*	probably null	Het
Cspg4b	A	T	13: 113,455,649 (GRCm39)	N565I		Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dlk2	G	A	17: 46,613,432 (GRCm39)	G186D	probably damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Dok3	A	G	13: 55,672,186 (GRCm39)	I164T	probably benign	Het
Ercc5	T	A	1: 44,207,041 (GRCm39)	D651E	probably damaging	Het
Erp27	T	C	6: 136,885,066 (GRCm39)	K244R	probably benign	Het
Fhip1a	G	A	3: 85,580,559 (GRCm39)	Q549*	probably null	Het
Flvcr2	T	C	12: 85,793,954 (GRCm39)	V110A	possibly damaging	Het
Gsta3	T	C	1: 21,320,060 (GRCm39)	L22P	probably damaging	Het
Hivep2	T	A	10: 14,005,523 (GRCm39)	I707N	probably benign	Het
Hmox1	A	G	8: 75,823,544 (GRCm39)	N71D	probably benign	Het
Hnrnpr	G	T	4: 136,063,615 (GRCm39)	V342F	probably damaging	Het
Ifi44	T	C	3: 151,438,108 (GRCm39)	D393G	probably damaging	Het
Ighv1-82	A	T	12: 115,916,566 (GRCm39)	F9I	probably damaging	Het
Kalrn	A	G	16: 33,854,864 (GRCm39)	S1999P	probably damaging	Het
Kcnq2	A	G	2: 180,776,753 (GRCm39)	S45P	probably benign	Het
Krt77	A	T	15: 101,769,779 (GRCm39)	Y364N	probably damaging	Het
Kti12	T	C	4: 108,705,476 (GRCm39)	V130A	probably benign	Het
Lama2	T	C	10: 27,100,015 (GRCm39)	E830G	probably benign	Het
Lrrn1	T	A	6: 107,545,505 (GRCm39)	H434Q	probably benign	Het
Med13	A	T	11: 86,179,801 (GRCm39)	N1382K	probably benign	Het
Mrpl42	A	G	10: 95,332,684 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,569,103 (GRCm39)	D1140G	probably benign	Het
Mtrr	A	G	13: 68,720,755 (GRCm39)	I280T	probably benign	Het
Myh4	A	T	11: 67,139,290 (GRCm39)	I536F	probably damaging	Het
Myh4	T	A	11: 67,141,129 (GRCm39)	N730K	probably damaging	Het
Nat10	A	C	2: 103,563,364 (GRCm39)	L545R	probably damaging	Het
Nav3	T	A	10: 109,520,015 (GRCm39)	D2356V	probably damaging	Het
Nbea	A	T	3: 55,937,366 (GRCm39)	S748R	probably damaging	Het
Nlrp1a	T	C	11: 70,998,488 (GRCm39)	T904A	probably benign	Het
Nod2	A	T	8: 89,397,050 (GRCm39)	N820I	probably damaging	Het
Nptx1	A	G	11: 119,433,381 (GRCm39)	V406A	probably damaging	Het
Nrdc	T	A	4: 108,901,863 (GRCm39)	I644K	probably benign	Het
Or4e1	T	C	14: 52,700,873 (GRCm39)	I198V	probably benign	Het
Ostf1	T	A	19: 18,573,735 (GRCm39)	I38F	probably benign	Het
Pacc1	G	A	1: 191,082,004 (GRCm39)	R337Q	probably damaging	Het
Pde4b	G	T	4: 102,462,183 (GRCm39)	D605Y	probably damaging	Het
Pde4d	A	G	13: 109,397,196 (GRCm39)	T3A		Het
Pknox1	A	G	17: 31,822,183 (GRCm39)	I317V	probably damaging	Het
Plekhh2	A	G	17: 84,918,240 (GRCm39)	N1283S	probably benign	Het
Ppp3cb	G	A	14: 20,573,868 (GRCm39)	A289V	probably damaging	Het
Prag1	A	G	8: 36,607,208 (GRCm39)	D983G	probably damaging	Het
Psmd13	C	T	7: 140,478,455 (GRCm39)	T62M		Het
Rab42	C	T	4: 132,029,890 (GRCm39)	V111I		Het
Rabl2	T	A	15: 89,474,631 (GRCm39)		probably null	Het
Rapgef6	T	A	11: 54,582,169 (GRCm39)	S1365R	probably damaging	Het
Rassf4	G	T	6: 116,617,265 (GRCm39)	H247N	possibly damaging	Het
Rbfox1	A	G	16: 7,227,573 (GRCm39)	T363A	probably benign	Het
Rbmyf9	T	A	Y: 3,774,888 (GRCm39)	F28L	probably damaging	Het
Sbf1	T	C	15: 89,184,742 (GRCm39)	D1091G	probably damaging	Het
Scaper	A	G	9: 55,593,275 (GRCm39)	V454A	probably benign	Het
Selenbp2	G	A	3: 94,607,352 (GRCm39)	D258N	probably benign	Het
Sirpa	A	T	2: 129,457,555 (GRCm39)	I210F	probably damaging	Het
Skint4	T	C	4: 112,015,236 (GRCm39)	S434P	probably benign	Het
Slc26a5	G	A	5: 22,016,337 (GRCm39)	Q682*	probably null	Het
Slco4a1	C	T	2: 180,115,943 (GRCm39)	S693F	possibly damaging	Het
Smpd3	A	G	8: 106,992,119 (GRCm39)	F145L	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Spata31d1c	A	T	13: 65,184,040 (GRCm39)	L527F	probably damaging	Het
Srd5a3	A	G	5: 76,297,794 (GRCm39)	N199D	probably benign	Het
Stard9	C	G	2: 120,534,564 (GRCm39)	P3607R	probably damaging	Het
Sytl1	A	G	4: 132,986,291 (GRCm39)		probably null	Het
Tas2r126	A	G	6: 42,412,307 (GRCm39)	H280R	probably null	Het
Tcf4	C	T	18: 69,652,944 (GRCm39)		probably benign	Het
Tlcd2	A	G	11: 75,359,112 (GRCm39)	T28A	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem119	A	G	5: 113,933,267 (GRCm39)	L178P	probably damaging	Het
Tmprss7	T	C	16: 45,484,564 (GRCm39)	D532G	probably benign	Het
Tnfaip8l3	A	G	9: 53,934,777 (GRCm39)	I66T	probably benign	Het
Tor1b	A	G	2: 30,843,185 (GRCm39)	Y50C	probably damaging	Het
Tpp2	T	A	1: 44,017,648 (GRCm39)	S751T	probably benign	Het
Tpra1	T	C	6: 88,887,221 (GRCm39)	V193A	probably benign	Het
Trip12	A	T	1: 84,735,215 (GRCm39)	V932E	probably damaging	Het
Ttn	T	A	2: 76,777,104 (GRCm39)	T1479S	unknown	Het
Unc13c	A	T	9: 73,392,220 (GRCm39)	V2044D	probably damaging	Het
Usp25	T	G	16: 76,852,076 (GRCm39)	V197G	probably damaging	Het
Vmn2r34	A	G	7: 7,675,366 (GRCm39)	V674A	probably benign	Het
Zfp7	T	C	15: 76,775,484 (GRCm39)	S509P	probably damaging	Het
Zfp821	A	G	8: 110,447,856 (GRCm39)	T66A	probably damaging	Het
Zfp97	T	A	17: 17,365,930 (GRCm39)	N476K	possibly damaging	Het

Other mutations in Hdac5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Hdac5	APN	11	102,088,168 (GRCm39)	missense	probably damaging	1.00
IGL01614:Hdac5	APN	11	102,090,854 (GRCm39)	missense	probably benign	0.38
IGL01799:Hdac5	APN	11	102,090,911 (GRCm39)	missense	possibly damaging	0.71
IGL02839:Hdac5	APN	11	102,095,734 (GRCm39)	missense	probably damaging	1.00
E0354:Hdac5	UTSW	11	102,092,972 (GRCm39)	unclassified	probably benign
R0544:Hdac5	UTSW	11	102,086,922 (GRCm39)	missense	probably damaging	1.00
R0612:Hdac5	UTSW	11	102,087,078 (GRCm39)	missense	possibly damaging	0.92
R0632:Hdac5	UTSW	11	102,096,638 (GRCm39)	missense	probably damaging	1.00
R0659:Hdac5	UTSW	11	102,086,850 (GRCm39)	missense	probably damaging	1.00
R0930:Hdac5	UTSW	11	102,095,472 (GRCm39)	missense	probably benign	0.02
R1195:Hdac5	UTSW	11	102,096,332 (GRCm39)	missense	probably damaging	0.99
R1195:Hdac5	UTSW	11	102,096,332 (GRCm39)	missense	probably damaging	0.99
R1195:Hdac5	UTSW	11	102,096,332 (GRCm39)	missense	probably damaging	0.99
R1475:Hdac5	UTSW	11	102,093,012 (GRCm39)	missense	possibly damaging	0.94
R1491:Hdac5	UTSW	11	102,092,079 (GRCm39)	missense	probably benign
R1596:Hdac5	UTSW	11	102,095,482 (GRCm39)	splice site	probably null
R1673:Hdac5	UTSW	11	102,089,631 (GRCm39)	missense	probably damaging	1.00
R1783:Hdac5	UTSW	11	102,091,342 (GRCm39)	missense	probably benign
R1932:Hdac5	UTSW	11	102,086,698 (GRCm39)	splice site	probably benign
R2197:Hdac5	UTSW	11	102,095,340 (GRCm39)	missense	probably damaging	1.00
R2348:Hdac5	UTSW	11	102,090,840 (GRCm39)	missense	probably benign	0.44
R2518:Hdac5	UTSW	11	102,087,962 (GRCm39)	missense	probably damaging	1.00
R3081:Hdac5	UTSW	11	102,096,436 (GRCm39)	missense	probably damaging	1.00
R3622:Hdac5	UTSW	11	102,086,644 (GRCm39)	missense	probably benign	0.34
R4543:Hdac5	UTSW	11	102,104,770 (GRCm39)	intron	probably benign
R4559:Hdac5	UTSW	11	102,089,928 (GRCm39)	unclassified	probably benign
R4661:Hdac5	UTSW	11	102,096,675 (GRCm39)	missense	probably damaging	1.00
R4682:Hdac5	UTSW	11	102,097,456 (GRCm39)	missense	probably null	0.99
R4708:Hdac5	UTSW	11	102,093,019 (GRCm39)	missense	probably damaging	0.97
R4933:Hdac5	UTSW	11	102,091,389 (GRCm39)	unclassified	probably benign
R4957:Hdac5	UTSW	11	102,096,082 (GRCm39)	unclassified	probably benign
R4991:Hdac5	UTSW	11	102,096,450 (GRCm39)	missense	probably damaging	1.00
R5090:Hdac5	UTSW	11	102,088,539 (GRCm39)	missense	probably damaging	1.00
R5103:Hdac5	UTSW	11	102,087,109 (GRCm39)	missense	probably damaging	0.98
R5330:Hdac5	UTSW	11	102,088,180 (GRCm39)	missense	probably damaging	1.00
R5331:Hdac5	UTSW	11	102,088,180 (GRCm39)	missense	probably damaging	1.00
R5386:Hdac5	UTSW	11	102,092,967 (GRCm39)	missense	possibly damaging	0.71
R5449:Hdac5	UTSW	11	102,086,923 (GRCm39)	nonsense	probably null
R5682:Hdac5	UTSW	11	102,104,749 (GRCm39)	intron	probably benign
R6615:Hdac5	UTSW	11	102,087,882 (GRCm39)	splice site	probably null
R6705:Hdac5	UTSW	11	102,092,062 (GRCm39)	missense	probably damaging	0.99
R6875:Hdac5	UTSW	11	102,093,102 (GRCm39)	missense	probably damaging	1.00
R6952:Hdac5	UTSW	11	102,095,786 (GRCm39)	missense	probably benign
R7179:Hdac5	UTSW	11	102,095,385 (GRCm39)	missense	possibly damaging	0.74
R7368:Hdac5	UTSW	11	102,088,207 (GRCm39)	missense	probably null	1.00
R8140:Hdac5	UTSW	11	102,088,181 (GRCm39)	missense	probably damaging	1.00
R8151:Hdac5	UTSW	11	102,097,294 (GRCm39)	missense	probably benign	0.00
R8684:Hdac5	UTSW	11	102,096,147 (GRCm39)	missense	probably benign	0.01
R8719:Hdac5	UTSW	11	102,097,963 (GRCm39)	missense	probably benign	0.18
R8751:Hdac5	UTSW	11	102,109,280 (GRCm39)	missense	probably benign	0.19
R8893:Hdac5	UTSW	11	102,097,512 (GRCm39)	missense	possibly damaging	0.82
R9337:Hdac5	UTSW	11	102,096,178 (GRCm39)	missense	probably damaging	1.00
R9595:Hdac5	UTSW	11	102,096,129 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AGGAAAGCAACACCGTCTG -3'
(R):5'- GGCTCTGAGCTCACTGTTAAG -3'

Sequencing Primer
(F):5'- ACGATTCTACGTGCCGTG -3'
(R):5'- CTGAGCTCACTGTTAAGGTTATAAGG -3'

Posted On

2022-07-18