Mutagenetix > Incidental Mutation

Incidental Mutation 'R6726:Hdac1-ps'

529886

Institutional Source

Beutler Lab

Gene Symbol

Hdac1-ps

Ensembl Gene

ENSMUSG00000061062

Gene Name

histone deacetylase 1, pseudogene

Synonyms

EG15181, Gm10093

MMRRC Submission

044844-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R6726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78799011-78800454 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78800287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 426 (E426G)

Ref Sequence

ENSEMBL: ENSMUSP00000078339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079363]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000079363
AA Change: E426G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078339
Gene: ENSMUSG00000061062
AA Change: E426G

Domain	Start	End	E-Value	Type
Pfam:Hist_deacetyl	18	320	3.2e-84	PFAM
low complexity region	390	402	N/A	INTRINSIC
low complexity region	417	430	N/A	INTRINSIC
low complexity region	443	471	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Arfgef2	T	A	2: 166,735,540 (GRCm39)		probably null	Het
Arsk	T	C	13: 76,222,907 (GRCm39)	Y230C	probably damaging	Het
Atf7ip	G	A	6: 136,559,389 (GRCm39)	V737M	probably damaging	Het
Atp6v1e1	A	T	6: 120,781,011 (GRCm39)		probably null	Het
Bbs9	T	C	9: 22,557,260 (GRCm39)	V3A	probably benign	Het
Brap	T	C	5: 121,813,365 (GRCm39)	S243P	probably damaging	Het
Camkmt	T	A	17: 85,702,037 (GRCm39)	I167N	probably damaging	Het
Ckap2l	C	A	2: 129,111,114 (GRCm39)	E694D	probably damaging	Het
Crmp1	G	A	5: 37,441,408 (GRCm39)	V497I	probably benign	Het
Dbx2	A	G	15: 95,522,741 (GRCm39)	V322A	possibly damaging	Het
Dll1	C	A	17: 15,590,513 (GRCm39)	C401F	probably damaging	Het
Dock10	T	C	1: 80,490,147 (GRCm39)	T1991A	probably damaging	Het
Dock3	C	T	9: 107,036,651 (GRCm39)	W42*	probably null	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Insrr	C	T	3: 87,720,873 (GRCm39)	R1044C	probably damaging	Het
Irs2	T	C	8: 11,054,961 (GRCm39)	N1157S	possibly damaging	Het
Kndc1	T	C	7: 139,502,667 (GRCm39)		probably null	Het
Map3k19	T	C	1: 127,748,185 (GRCm39)	N1241S	probably benign	Het
Or9g4b	T	C	2: 85,615,906 (GRCm39)	F17S	possibly damaging	Het
Paqr5	C	T	9: 61,871,065 (GRCm39)	R171Q	probably damaging	Het
Pcdh17	T	A	14: 84,683,657 (GRCm39)	D41E	probably damaging	Het
Plg	T	G	17: 12,597,595 (GRCm39)	L14R	probably damaging	Het
Prkab1	A	G	5: 116,158,092 (GRCm39)	V168A	probably benign	Het
Prr35	G	C	17: 26,166,689 (GRCm39)	P283A	probably benign	Het
Ptdss1	C	T	13: 67,101,595 (GRCm39)	R95*	probably null	Het
Rab3gap2	T	G	1: 184,980,062 (GRCm39)	S327A	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Homo
Sdr42e2	T	C	7: 120,425,332 (GRCm39)	S308P	probably damaging	Het
Senp8	C	A	9: 59,644,473 (GRCm39)	V228L	probably benign	Het
Serpina10	A	T	12: 103,594,628 (GRCm39)	I197K	probably benign	Het
Serpinb6d	A	G	13: 33,854,718 (GRCm39)	N231S	probably benign	Het
Sez6l2	T	C	7: 126,567,177 (GRCm39)	V869A	probably damaging	Het
Sgo2b	T	A	8: 64,380,769 (GRCm39)	K688*	probably null	Het
Sh3kbp1	A	T	X: 158,624,176 (GRCm39)	E39D	probably benign	Homo
Ufsp2	T	C	8: 46,438,504 (GRCm39)	M194T	probably benign	Het
Ush2a	T	C	1: 188,485,881 (GRCm39)	I2997T	possibly damaging	Het
Vmn2r107	G	A	17: 20,595,637 (GRCm39)	G730D	probably damaging	Het
Wdr72	T	C	9: 74,059,822 (GRCm39)	Y411H	possibly damaging	Het
Xirp2	T	C	2: 67,343,212 (GRCm39)	S1818P	possibly damaging	Het

Other mutations in Hdac1-ps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01936:Hdac1-ps	APN	17	78,799,558 (GRCm39)	missense	probably damaging	1.00
IGL01983:Hdac1-ps	APN	17	78,800,282 (GRCm39)	missense	probably benign
IGL02543:Hdac1-ps	APN	17	78,799,303 (GRCm39)	missense	probably damaging	0.97
buttress	UTSW	17	78,800,343 (GRCm39)	missense	possibly damaging	0.91
Chartre	UTSW	17	78,799,969 (GRCm39)	missense	probably damaging	0.99
R1174:Hdac1-ps	UTSW	17	78,799,507 (GRCm39)	missense	probably benign	0.01
R1605:Hdac1-ps	UTSW	17	78,799,537 (GRCm39)	missense	probably damaging	0.98
R2416:Hdac1-ps	UTSW	17	78,799,945 (GRCm39)	missense	probably damaging	1.00
R2919:Hdac1-ps	UTSW	17	78,800,275 (GRCm39)	missense	probably damaging	0.98
R2920:Hdac1-ps	UTSW	17	78,800,275 (GRCm39)	missense	probably damaging	0.98
R3846:Hdac1-ps	UTSW	17	78,800,401 (GRCm39)	missense	possibly damaging	0.91
R4544:Hdac1-ps	UTSW	17	78,800,388 (GRCm39)	missense	probably benign	0.02
R4546:Hdac1-ps	UTSW	17	78,800,388 (GRCm39)	missense	probably benign	0.02
R5223:Hdac1-ps	UTSW	17	78,799,867 (GRCm39)	missense	probably benign	0.02
R5297:Hdac1-ps	UTSW	17	78,800,187 (GRCm39)	missense	probably benign
R6164:Hdac1-ps	UTSW	17	78,799,716 (GRCm39)	missense	probably damaging	0.99
R6568:Hdac1-ps	UTSW	17	78,800,017 (GRCm39)	missense	probably damaging	1.00
R6901:Hdac1-ps	UTSW	17	78,800,089 (GRCm39)	missense	probably benign	0.07
R6923:Hdac1-ps	UTSW	17	78,800,343 (GRCm39)	missense	possibly damaging	0.91
R7838:Hdac1-ps	UTSW	17	78,799,447 (GRCm39)	missense	probably damaging	1.00
R8002:Hdac1-ps	UTSW	17	78,799,716 (GRCm39)	missense	probably damaging	0.99
R8728:Hdac1-ps	UTSW	17	78,800,332 (GRCm39)	missense	probably benign	0.01
R8821:Hdac1-ps	UTSW	17	78,799,969 (GRCm39)	missense	probably damaging	0.99
R8920:Hdac1-ps	UTSW	17	78,799,171 (GRCm39)	missense	probably benign	0.37
R9618:Hdac1-ps	UTSW	17	78,799,114 (GRCm39)	missense	probably damaging	1.00
R9649:Hdac1-ps	UTSW	17	78,799,075 (GRCm39)	missense	probably benign	0.03
X0060:Hdac1-ps	UTSW	17	78,799,557 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGCTTCACATCAGCCCTTC -3'
(R):5'- CAGGCCAACTTGACCTCTTC -3'

Sequencing Primer
(F):5'- AGCAGCGTCTCTTTGAGAAC -3'
(R):5'- GGCCAACTTGACCTCTTCTTTGAC -3'

Posted On

2018-08-01