Mutagenetix > Incidental Mutation

Incidental Mutation 'R8086:Hinfp'

629659

Institutional Source

Beutler Lab

Gene Symbol

Hinfp

Ensembl Gene

ENSMUSG00000032119

Gene Name

histone H4 transcription factor

Synonyms

Mizf, DKFZp434F162

MMRRC Submission

067519-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44203737-44216968 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44210286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 183 (R183Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034629] [ENSMUST00000214660] [ENSMUST00000216508]

AlphaFold

Q8K1K9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034629
AA Change: R183Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034629
Gene: ENSMUSG00000032119
AA Change: R183Q

Domain	Start	End	E-Value	Type
ZnF_C2H2	15	39	8.09e-1	SMART
low complexity region	49	59	N/A	INTRINSIC
ZnF_C2H2	60	85	2.82e1	SMART
ZnF_C2H2	125	149	1.16e1	SMART
ZnF_C2H2	165	189	5.42e-2	SMART
ZnF_C2H2	195	215	9.81e1	SMART
ZnF_C2H2	225	247	3.69e-4	SMART
ZnF_C2H2	251	274	1.4e-4	SMART
ZnF_C2H2	280	302	1.67e-2	SMART
ZnF_C2H2	308	333	5.06e-2	SMART
ZnF_C2H2	341	364	2.75e-3	SMART
low complexity region	399	406	N/A	INTRINSIC
low complexity region	425	448	N/A	INTRINSIC
low complexity region	482	489	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214660

Predicted Effect

probably damaging
Transcript: ENSMUST00000216508
AA Change: R183Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.9%
20x: 96.4%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that interacts with methyl-CpG-binding protein-2 (MBD2), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a role in DNA methylation and transcription repression. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality associated with delayed hatching and failure of the blastocyst to expand. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,055,808 (GRCm39)	H372L		Het
Abcb1a	A	T	5: 8,724,833 (GRCm39)	T89S	probably benign	Het
Ago1	A	G	4: 126,354,774 (GRCm39)	V146A	probably benign	Het
App	T	C	16: 84,917,428 (GRCm39)	Y72C	unknown	Het
Arhgap20	T	C	9: 51,760,563 (GRCm39)	S805P	probably benign	Het
Bak1	T	A	17: 27,239,911 (GRCm39)	R208S	probably benign	Het
Btnl4	A	C	17: 34,692,976 (GRCm39)		probably null	Het
Cacng7	T	C	7: 3,387,518 (GRCm39)	S134P	probably benign	Het
Capn9	A	T	8: 125,334,692 (GRCm39)		probably null	Het
Cox4i1	T	A	8: 121,400,779 (GRCm39)	M148K	probably damaging	Het
Ctnna1	A	G	18: 35,285,713 (GRCm39)	I20V	possibly damaging	Het
Dennd2c	T	A	3: 103,040,661 (GRCm39)	Y309N	possibly damaging	Het
Dnah14	C	A	1: 181,593,797 (GRCm39)	T3380K	probably damaging	Het
Dnajc3	G	T	14: 119,208,192 (GRCm39)	E276*	probably null	Het
Dock10	C	A	1: 80,481,707 (GRCm39)	C1772F	probably benign	Het
Fank1	A	T	7: 133,454,959 (GRCm39)	E26D	possibly damaging	Het
Fcgbp	G	T	7: 27,813,389 (GRCm39)	C2308F	probably damaging	Het
Fyco1	A	T	9: 123,659,471 (GRCm39)	M235K	probably damaging	Het
Gm7361	C	T	5: 26,465,446 (GRCm39)	R148C	probably damaging	Het
Hpd	T	C	5: 123,314,252 (GRCm39)	Y221C	probably benign	Het
Hrnr	A	T	3: 93,230,728 (GRCm39)	H322L	unknown	Het
Il6st	T	A	13: 112,631,094 (GRCm39)		probably null	Het
Impa1	T	C	3: 10,387,988 (GRCm39)	K145E	probably benign	Het
Itga9	A	T	9: 118,679,869 (GRCm39)	M847L	probably benign	Het
Itgb6	A	G	2: 60,480,376 (GRCm39)	V320A	probably damaging	Het
Lrrfip1	T	A	1: 91,043,630 (GRCm39)	H678Q	probably benign	Het
Mettl16	A	G	11: 74,696,091 (GRCm39)	T311A	probably benign	Het
Nefl	T	C	14: 68,323,480 (GRCm39)	Y369H	probably damaging	Het
Or1d2	C	A	11: 74,255,780 (GRCm39)	P95Q	probably benign	Het
Pkd1	A	G	17: 24,800,188 (GRCm39)	Y2983C	probably damaging	Het
Potegl	A	G	2: 23,130,934 (GRCm39)		probably null	Het
Prr5l	C	T	2: 101,571,709 (GRCm39)	E123K	probably benign	Het
Ptprq	A	T	10: 107,482,500 (GRCm39)	Y1024*	probably null	Het
Ramp2	T	A	11: 101,138,762 (GRCm39)	L147Q	probably damaging	Het
Rassf1	C	T	9: 107,435,173 (GRCm39)	R223C	probably benign	Het
Rcbtb2	T	C	14: 73,411,305 (GRCm39)	F357L	probably damaging	Het
Rnf24	A	G	2: 131,145,468 (GRCm39)	V114A	probably benign	Het
Slc7a1	T	G	5: 148,288,899 (GRCm39)	N116T	probably damaging	Het
Sstr2	T	C	11: 113,515,998 (GRCm39)	C306R	probably damaging	Het
Tatdn2	T	C	6: 113,686,482 (GRCm39)	S697P	probably damaging	Het
Tmem67	T	A	4: 12,040,738 (GRCm39)	N935I	probably damaging	Het
Trp73	G	A	4: 154,201,052 (GRCm39)	P4S	unknown	Het
Vmn1r237	T	G	17: 21,534,509 (GRCm39)	D77E	possibly damaging	Het
Vmn1r238	C	T	18: 3,123,250 (GRCm39)	A55T	probably damaging	Het
Vsig10l	C	A	7: 43,114,876 (GRCm39)	A359E	possibly damaging	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Zbtb25	A	G	12: 76,395,923 (GRCm39)	V433A	probably benign	Het
Zfp180	C	A	7: 23,805,535 (GRCm39)	D651E	probably benign	Het
Zfp979	T	C	4: 147,698,004 (GRCm39)	D235G	probably damaging	Het

Other mutations in Hinfp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Hinfp	APN	9	44,209,063 (GRCm39)	missense	probably damaging	1.00
IGL00973:Hinfp	APN	9	44,209,436 (GRCm39)	missense	probably benign	0.43
R0131:Hinfp	UTSW	9	44,211,060 (GRCm39)	missense	probably damaging	1.00
R0131:Hinfp	UTSW	9	44,211,060 (GRCm39)	missense	probably damaging	1.00
R0132:Hinfp	UTSW	9	44,211,060 (GRCm39)	missense	probably damaging	1.00
R0207:Hinfp	UTSW	9	44,207,624 (GRCm39)	missense	possibly damaging	0.84
R0254:Hinfp	UTSW	9	44,209,536 (GRCm39)	missense	probably damaging	1.00
R0390:Hinfp	UTSW	9	44,210,245 (GRCm39)	missense	probably damaging	1.00
R2116:Hinfp	UTSW	9	44,210,912 (GRCm39)	missense	probably damaging	1.00
R3613:Hinfp	UTSW	9	44,209,041 (GRCm39)	missense	probably damaging	1.00
R3742:Hinfp	UTSW	9	44,213,812 (GRCm39)	missense	probably damaging	1.00
R5199:Hinfp	UTSW	9	44,207,689 (GRCm39)	missense	probably benign	0.00
R5773:Hinfp	UTSW	9	44,210,533 (GRCm39)	missense	probably benign	0.09
R5788:Hinfp	UTSW	9	44,209,105 (GRCm39)	missense	possibly damaging	0.89
R6210:Hinfp	UTSW	9	44,210,169 (GRCm39)	critical splice donor site	probably null
R6968:Hinfp	UTSW	9	44,209,282 (GRCm39)	missense	probably benign	0.00
R7294:Hinfp	UTSW	9	44,210,567 (GRCm39)	missense	probably damaging	0.97
R7402:Hinfp	UTSW	9	44,209,314 (GRCm39)	missense	probably damaging	1.00
R7693:Hinfp	UTSW	9	44,209,642 (GRCm39)	missense	probably damaging	0.98
R8882:Hinfp	UTSW	9	44,209,629 (GRCm39)	critical splice donor site	probably null
R8916:Hinfp	UTSW	9	44,209,673 (GRCm39)	missense	probably damaging	0.99
R9129:Hinfp	UTSW	9	44,209,062 (GRCm39)	missense	probably damaging	1.00
R9265:Hinfp	UTSW	9	44,209,083 (GRCm39)	missense	possibly damaging	0.94
R9272:Hinfp	UTSW	9	44,213,872 (GRCm39)	missense	probably benign
R9372:Hinfp	UTSW	9	44,209,083 (GRCm39)	missense	probably damaging	0.99
R9436:Hinfp	UTSW	9	44,209,276 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAGTGCCTGATCCCAAAG -3'
(R):5'- CCCTGGAGGTGTAAAGGTCTAG -3'

Sequencing Primer
(F):5'- TGCAGGGCACAGATCTCAG -3'
(R):5'- GTGTAAAGGTCTAGAGGAGCC -3'

Posted On

2020-06-30