Mutagenetix > Incidental Mutation

Incidental Mutation 'R8882:Hinfp'

676987

Institutional Source

Beutler Lab

Gene Symbol

Hinfp

Ensembl Gene

ENSMUSG00000032119

Gene Name

histone H4 transcription factor

Synonyms

Mizf, DKFZp434F162

MMRRC Submission

068750-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8882 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44203737-44216968 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 44209629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149879 (fasta)

Gene Model

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

AlphaFold

Q8K1K9

Predicted Effect

probably benign
Transcript: ENSMUST00000034629

SMART Domains

Protein: ENSMUSP00000034629
Gene: ENSMUSG00000032119

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 null
Transcript: ENSMUST00000216508

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	A	T	13: 111,392,033 (GRCm39)	I123L	probably benign	Het
Adam18	T	C	8: 25,136,438 (GRCm39)	D361G	probably benign	Het
Adcyap1r1	G	A	6: 55,468,219 (GRCm39)	V352M	possibly damaging	Het
Ahnak	T	C	19: 8,978,106 (GRCm39)	L75P	probably damaging	Het
Arhgap23	T	C	11: 97,355,949 (GRCm39)	S856P	probably benign	Het
Asprv1	G	T	6: 86,605,349 (GRCm39)	C65F	probably benign	Het
Atp2b4	A	T	1: 133,654,193 (GRCm39)		probably null	Het
Cd55	A	G	1: 130,387,501 (GRCm39)	V99A	probably benign	Het
Cit	G	A	5: 116,001,089 (GRCm39)	A163T	probably benign	Het
Dnah6	A	T	6: 73,155,481 (GRCm39)	D711E	probably benign	Het
Dnajc15	A	T	14: 78,094,411 (GRCm39)	V41E	probably damaging	Het
Dock2	GCACACACACA	GCACACACACACA	11: 34,595,436 (GRCm39)	453	probably null	Het
Dst	T	C	1: 34,240,005 (GRCm39)	S1785P	probably damaging	Het
Efhb	A	G	17: 53,769,712 (GRCm39)	V199A	probably damaging	Het
Esyt3	C	T	9: 99,202,909 (GRCm39)	G498D	probably damaging	Het
Fbxo11	A	G	17: 88,304,957 (GRCm39)	I562T		Het
Fh1	C	T	1: 175,437,353 (GRCm39)	V249I	possibly damaging	Het
Gdpgp1	T	C	7: 79,888,704 (GRCm39)	I245T	possibly damaging	Het
Hip1r	A	G	5: 124,140,025 (GRCm39)	K1043E	probably damaging	Het
Htt	G	A	5: 34,979,061 (GRCm39)	V815I	probably benign	Het
Jrk	A	G	15: 74,579,004 (GRCm39)	Y94H	probably damaging	Het
Krit1	T	A	5: 3,886,864 (GRCm39)	N704K	possibly damaging	Het
Mmp17	A	G	5: 129,679,008 (GRCm39)	D331G	probably benign	Het
Nlrp9a	T	A	7: 26,257,703 (GRCm39)	Y440*	probably null	Het
Nphp3	A	G	9: 103,882,793 (GRCm39)	T216A	possibly damaging	Het
Or1e1f	T	G	11: 73,855,940 (GRCm39)	C169G	probably damaging	Het
Or4a79	G	T	2: 89,551,740 (GRCm39)	C238*	probably null	Het
Or5ae2	T	C	7: 84,505,681 (GRCm39)	Y37H	probably damaging	Het
Or7e176	T	C	9: 20,171,256 (GRCm39)	F40S	probably benign	Het
Or8c15	T	A	9: 38,120,461 (GRCm39)	Y35*	probably null	Het
Parva	T	C	7: 112,027,211 (GRCm39)	S14P	probably benign	Het
Pax6	A	C	2: 105,521,963 (GRCm39)	N207H	possibly damaging	Het
Pde6a	A	G	18: 61,378,619 (GRCm39)	N314S		Het
Phlpp1	T	A	1: 106,320,372 (GRCm39)	S1456T	probably benign	Het
Plxnc1	A	G	10: 94,677,428 (GRCm39)	V933A	probably damaging	Het
Rasgef1b	A	G	5: 99,524,860 (GRCm39)	S100P	probably benign	Het
Rpn2	A	G	2: 157,136,102 (GRCm39)	H170R	probably benign	Het
Sbds	A	G	5: 130,282,778 (GRCm39)		probably null	Het
Scube2	G	C	7: 109,451,680 (GRCm39)	L158V	probably damaging	Het
Slc16a12	C	A	19: 34,649,854 (GRCm39)	V394L	probably benign	Het
Slc23a2	A	T	2: 131,933,159 (GRCm39)	Y100N	possibly damaging	Het
Slc30a9	G	T	5: 67,473,044 (GRCm39)	E43*	probably null	Het
Specc1l	A	T	10: 75,065,689 (GRCm39)	M1L	unknown	Het
Sspo	T	A	6: 48,452,390 (GRCm39)	C2785S	probably damaging	Het
Star	T	C	8: 26,302,897 (GRCm39)	S280P	probably benign	Het
Strip1	A	T	3: 107,534,341 (GRCm39)	M127K	probably benign	Het
Tbx19	C	T	1: 164,966,780 (GRCm39)	V365M	probably benign	Het
Tex2	T	C	11: 106,435,062 (GRCm39)	D788G	unknown	Het
Tspyl1	A	G	10: 34,158,494 (GRCm39)	E73G	possibly damaging	Het
Ulk2	C	T	11: 61,698,887 (GRCm39)		probably null	Het
Vmn2r120	A	T	17: 57,852,229 (GRCm39)	M29K	probably benign	Het
Vmn2r60	C	A	7: 41,790,518 (GRCm39)	Q502K	probably benign	Het
Xpo5	A	G	17: 46,538,666 (GRCm39)	D624G	possibly damaging	Het
Zfp119b	T	C	17: 56,246,923 (GRCm39)	R88G	possibly damaging	Het
Zfp879	C	A	11: 50,724,763 (GRCm39)	E98*	probably null	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
R8086:Hinfp	UTSW	9	44,210,286 (GRCm39)	missense	probably damaging	1.00
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'- CTGTGTCGAAAGCGCATGTG -3'
(R):5'- AGGCACTTCCTAGCTTTCAC -3'

Sequencing Primer
(F):5'- TCGAAAGCGCATGTGATTCC -3'
(R):5'- TTAACTCAGGTGGACTCCAGATC -3'

Posted On

2021-07-15