Mutagenetix > Incidental Mutation

Incidental Mutation 'R5199:Hinfp'

400602

Institutional Source

Beutler Lab

Gene Symbol

Hinfp

Ensembl Gene

ENSMUSG00000032119

Gene Name

histone H4 transcription factor

Synonyms

Mizf, DKFZp434F162

MMRRC Submission

042775-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5199 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44203737-44216968 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44207689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 439 (E439G)

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

noncoding transcript
Transcript: ENSMUST00000215637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215665

Predicted Effect

probably benign
Transcript: ENSMUST00000216508
AA Change: E439G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217413

Meta Mutation Damage Score

0.0856

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (57/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	T	C	3: 59,843,906 (GRCm39)	L200P	probably damaging	Het
Adam1a	T	C	5: 121,659,215 (GRCm39)	E26G	probably benign	Het
Adar	T	A	3: 89,653,251 (GRCm39)	M797K	probably damaging	Het
Amdhd1	A	T	10: 93,361,847 (GRCm39)	C352S	probably damaging	Het
AW554918	C	A	18: 25,473,356 (GRCm39)	R387S	probably damaging	Het
Cabp1	A	G	5: 115,324,102 (GRCm39)	V5A	possibly damaging	Het
Carmil1	A	G	13: 24,295,853 (GRCm39)	L387P	probably damaging	Het
Cds2	T	A	2: 132,140,403 (GRCm39)	H200Q	probably damaging	Het
Cep170b	T	A	12: 112,710,581 (GRCm39)	L1470Q	probably damaging	Het
Cnnm1	A	G	19: 43,483,425 (GRCm39)	D956G	possibly damaging	Het
Cnot8	C	T	11: 58,006,100 (GRCm39)	Q210*	probably null	Het
Cpne8	G	A	15: 90,532,812 (GRCm39)	T65I	probably benign	Het
Crygn	A	G	5: 24,961,156 (GRCm39)	V50A	probably damaging	Het
Cxcr4	A	G	1: 128,517,283 (GRCm39)	V126A	probably damaging	Het
Cyp4f15	A	G	17: 32,921,346 (GRCm39)	D464G	probably benign	Het
Dapp1	C	T	3: 137,687,146 (GRCm39)	S12N	probably benign	Het
Dhps	G	A	8: 85,800,035 (GRCm39)	G162R	probably damaging	Het
Dsp	T	G	13: 38,376,878 (GRCm39)	Y1554*	probably null	Het
Etl4	G	T	2: 20,748,853 (GRCm39)	R397L	probably damaging	Het
Ezh2	C	T	6: 47,528,659 (GRCm39)	C291Y	probably benign	Het
Gbp9	T	C	5: 105,231,678 (GRCm39)	S303G	probably benign	Het
Gm11444	A	C	11: 85,738,845 (GRCm39)	S83A	unknown	Het
Gpat4	A	G	8: 23,672,712 (GRCm39)	V46A	possibly damaging	Het
Haus6	T	C	4: 86,501,222 (GRCm39)	D883G	possibly damaging	Het
Ifna14	T	A	4: 88,489,599 (GRCm39)	Y146F	probably damaging	Het
Igkv3-3	A	T	6: 70,664,488 (GRCm39)	Y110F	probably damaging	Het
Kansl2-ps	A	G	7: 72,322,942 (GRCm39)		noncoding transcript	Het
Klrh1	T	A	6: 129,752,781 (GRCm39)	Y8F	possibly damaging	Het
Mcmdc2	T	C	1: 9,990,660 (GRCm39)	V279A	probably benign	Het
Mug2	T	A	6: 122,017,619 (GRCm39)	V452D	probably benign	Het
Ndufb3	C	G	1: 58,630,281 (GRCm39)		probably benign	Het
Oas1d	G	T	5: 121,057,208 (GRCm39)	K271N	probably benign	Het
Or4c110	T	A	2: 88,832,107 (GRCm39)	H175L	possibly damaging	Het
Or5ac21	T	A	16: 59,124,103 (GRCm39)	F196I	probably benign	Het
Or9g3	A	G	2: 85,590,558 (GRCm39)	L54P	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcnt	T	A	10: 76,254,378 (GRCm39)	H817L	probably benign	Het
Per3	G	T	4: 151,097,352 (GRCm39)	S724R	probably benign	Het
Phlpp1	T	A	1: 106,101,124 (GRCm39)	V464E	probably damaging	Het
Psme4	A	G	11: 30,803,272 (GRCm39)	E38G	probably benign	Het
Qtrt2	T	C	16: 43,687,788 (GRCm39)	N264S	probably benign	Het
Ranbp2	G	A	10: 58,300,265 (GRCm39)	R557H	probably benign	Het
Rptor	T	A	11: 119,494,642 (GRCm39)	S3T	probably benign	Het
Saxo1	T	A	4: 86,406,019 (GRCm39)	Y60F	probably damaging	Het
St3gal1	A	G	15: 66,985,564 (GRCm39)	V30A	probably benign	Het
Tmem245	G	A	4: 56,925,149 (GRCm39)	S324L	probably benign	Het
Topbp1	A	G	9: 103,223,871 (GRCm39)		probably benign	Het
Urb1	T	C	16: 90,589,636 (GRCm39)	T382A	possibly damaging	Het
Vmn1r178	A	T	7: 23,593,814 (GRCm39)	L214F	probably benign	Het
Vmn2r82	G	A	10: 79,231,921 (GRCm39)	C640Y	probably damaging	Het
Vsx2	A	G	12: 84,639,984 (GRCm39)	D281G	probably benign	Het
Zfp804b	A	T	5: 6,820,013 (GRCm39)	C1017S	probably benign	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
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
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'- TTCAAGATGTGGAGCAGGAC -3'
(R):5'- AGATGGCTACATGCGACTGC -3'

Sequencing Primer
(F):5'- AGACTCTGCAGCCTCAGC -3'
(R):5'- ACTGCAGCTAGTTCGGTATGAGAG -3'

Posted On

2016-07-06