Mutagenetix > Incidental Mutation

Incidental Mutation 'R9324:Hipk4'

706381

Institutional Source

Beutler Lab

Gene Symbol

Hipk4

Ensembl Gene

ENSMUSG00000040424

Gene Name

homeodomain interacting protein kinase 4

Synonyms

LOC233020

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27222692-27230600 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27228834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 428 (D428G)

Ref Sequence

ENSEMBL: ENSMUSP00000103990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037134] [ENSMUST00000108353] [ENSMUST00000117095] [ENSMUST00000117611]

AlphaFold

Q3V016

Predicted Effect

probably damaging
Transcript: ENSMUST00000037134
AA Change: D224G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043175
Gene: ENSMUSG00000040424
AA Change: D224G

Domain	Start	End	E-Value	Type
SCOP:d1howa_	1	142	8e-12	SMART
Blast:S_TKc	1	143	8e-99	BLAST
PDB:3ANR\|D	1	155	1e-12	PDB
low complexity region	192	206	N/A	INTRINSIC
low complexity region	389	399	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108353
AA Change: D428G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103990
Gene: ENSMUSG00000040424
AA Change: D428G

Domain	Start	End	E-Value	Type
S_TKc	11	347	9.31e-74	SMART
low complexity region	396	410	N/A	INTRINSIC
low complexity region	593	603	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117095

SMART Domains

Protein: ENSMUSP00000113820
Gene: ENSMUSG00000003363

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
PLDc	194	221	9.25e-10	SMART
Pfam:PLDc_3	224	401	1.6e-43	PFAM
PLDc	409	435	1.19e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117611

SMART Domains

Protein: ENSMUSP00000112942
Gene: ENSMUSG00000003363

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
PLDc	194	221	9.25e-10	SMART
low complexity region	285	297	N/A	INTRINSIC
PLDc	409	435	1.19e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homeodomain interacting protein kinase (HIPK) family of proteins. While other members of this family are found throughout vertebrates, this member is present only in mammals. Compared to other members of this family, the encoded protein lacks a nuclear localization signal and a C-terminal autoinhibitory domain. The encoded protein exhibits kinase activity and may phosphorylate the tumor suppressor protein p53. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,179,856 (GRCm39)	H358R	probably benign	Het
Arid3c	A	G	4: 41,730,138 (GRCm39)	L19S	possibly damaging	Het
Arpp21	T	A	9: 111,986,765 (GRCm39)	D262V	probably damaging	Het
Atp4a	A	C	7: 30,415,207 (GRCm39)	I276L	probably benign	Het
Axl	C	G	7: 25,460,982 (GRCm39)	E676Q	probably damaging	Het
Ces1g	T	C	8: 94,055,118 (GRCm39)	D193G	probably damaging	Het
Crym	A	G	7: 119,789,005 (GRCm39)	V274A	probably damaging	Het
Efcab5	T	A	11: 77,004,546 (GRCm39)	H924L	possibly damaging	Het
Eif1ad7	T	A	12: 88,238,709 (GRCm39)	N17I	unknown	Het
Eif3l	T	A	15: 78,978,423 (GRCm39)	M560K	probably benign	Het
Fam234b	C	A	6: 135,202,793 (GRCm39)	Y382*	probably null	Het
Fbxw19	T	C	9: 109,313,440 (GRCm39)	K253E	possibly damaging	Het
Fhip1a	T	C	3: 85,638,053 (GRCm39)	D82G	probably benign	Het
Flt3	A	G	5: 147,313,790 (GRCm39)	S87P	probably benign	Het
Garin3	A	T	11: 46,295,810 (GRCm39)	I61F		Het
Ggnbp2	A	G	11: 84,725,174 (GRCm39)	L627S	probably damaging	Het
Gm26661	T	G	14: 7,791,765 (GRCm38)	V60G	unknown	Het
Golt1a	T	C	1: 133,247,094 (GRCm39)	L34P	probably damaging	Het
Gp5	T	C	16: 30,127,808 (GRCm39)	M289V	possibly damaging	Het
Gpr63	C	G	4: 25,008,432 (GRCm39)	H385Q	possibly damaging	Het
Hcn1	G	A	13: 118,111,901 (GRCm39)	V622I	unknown	Het
Hs3st1	T	C	5: 39,772,145 (GRCm39)	Y166C	probably damaging	Het
Hsd17b3	A	G	13: 64,206,459 (GRCm39)	F281S	possibly damaging	Het
Ifih1	T	C	2: 62,475,950 (GRCm39)	T109A	probably benign	Het
Ighv1-64	T	A	12: 115,471,645 (GRCm39)		probably benign	Het
Ina	T	C	19: 47,003,816 (GRCm39)	L208P		Het
Iqcn	C	T	8: 71,161,794 (GRCm39)	T329I	possibly damaging	Het
Irak2	T	C	6: 113,615,604 (GRCm39)		probably null	Het
Klhl10	G	A	11: 100,338,481 (GRCm39)	E407K	probably benign	Het
Krt81	A	G	15: 101,361,335 (GRCm39)	S82P	probably damaging	Het
Ktn1	C	A	14: 47,948,353 (GRCm39)	Q963K	probably benign	Het
Lgalsl2	G	A	7: 5,362,527 (GRCm39)	V53I	possibly damaging	Het
Lrrc42	A	T	4: 107,104,913 (GRCm39)	Y17*	probably null	Het
Lrrc9	A	C	12: 72,496,171 (GRCm39)	E15D	probably damaging	Het
Mak	G	A	13: 41,202,839 (GRCm39)	T203I	probably benign	Het
Masp2	T	C	4: 148,692,485 (GRCm39)	V326A	possibly damaging	Het
Mdc1	T	C	17: 36,164,258 (GRCm39)	S1269P	probably benign	Het
Mink1	G	A	11: 70,502,477 (GRCm39)	V1027M	probably damaging	Het
Mrps10	C	A	17: 47,686,903 (GRCm39)	S123*	probably null	Het
Myl10	C	T	5: 136,729,787 (GRCm39)	H142Y	probably damaging	Het
Ncan	T	C	8: 70,560,648 (GRCm39)	Q773R	possibly damaging	Het
Nlrp3	T	A	11: 59,434,141 (GRCm39)	M68K	probably damaging	Het
Ntrk1	C	T	3: 87,698,745 (GRCm39)	V99M	possibly damaging	Het
Odad3	T	C	9: 21,903,207 (GRCm39)	E402G	probably damaging	Het
Or4p22	C	T	2: 88,317,787 (GRCm39)	T237I	probably damaging	Het
Or5an1	A	G	19: 12,260,939 (GRCm39)	R176G	probably benign	Het
Or8c8	A	G	9: 38,164,962 (GRCm39)	K80R	probably benign	Het
Phldb2	A	G	16: 45,595,437 (GRCm39)	V830A	probably damaging	Het
Phospho2	T	C	2: 69,625,913 (GRCm39)	V23A	probably damaging	Het
Plxnc1	G	A	10: 94,780,685 (GRCm39)		probably benign	Het
Ppcdc	T	C	9: 57,342,280 (GRCm39)	E14G	probably benign	Het
Ralgapa2	T	C	2: 146,302,645 (GRCm39)	Y106C	probably damaging	Het
Rgs22	T	C	15: 36,087,544 (GRCm39)	Q582R	probably benign	Het
Rngtt	T	A	4: 33,320,613 (GRCm39)	Y53*	probably null	Het
Slc12a3	T	G	8: 95,083,028 (GRCm39)		probably null	Het
Slc26a11	A	G	11: 119,267,730 (GRCm39)	T456A	probably benign	Het
Slc26a5	G	T	5: 22,018,334 (GRCm39)	A677E	possibly damaging	Het
Smurf1	T	C	5: 144,817,463 (GRCm39)	T690A	probably benign	Het
Spata24	A	T	18: 35,790,064 (GRCm39)	N142K	probably damaging	Het
Ubqlnl	A	T	7: 103,798,962 (GRCm39)	N178K	possibly damaging	Het
Uggt2	A	G	14: 119,312,741 (GRCm39)		probably null	Het
Vmn1r2	C	A	4: 3,172,678 (GRCm39)	A199D	probably damaging	Het
Vmn2r39	T	C	7: 9,030,684 (GRCm39)	N128S	probably damaging	Het
Vmn2r61	G	T	7: 41,916,619 (GRCm39)	V411F	probably benign	Het
Vmn2r-ps117	T	A	17: 19,042,911 (GRCm39)	F106L	probably benign	Het
Zfp503	A	T	14: 22,035,353 (GRCm39)	I521N	possibly damaging	Het
Zfp831	T	C	2: 174,547,113 (GRCm39)	V1432A	probably benign	Het
Zfp981	T	A	4: 146,619,884 (GRCm39)	L13I	possibly damaging	Het

Other mutations in Hipk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01756:Hipk4	APN	7	27,227,968 (GRCm39)	nonsense	probably null
IGL02712:Hipk4	APN	7	27,228,060 (GRCm39)	missense	probably damaging	1.00
R2018:Hipk4	UTSW	7	27,228,429 (GRCm39)	missense	probably damaging	1.00
R3813:Hipk4	UTSW	7	27,223,372 (GRCm39)	missense	probably damaging	1.00
R4796:Hipk4	UTSW	7	27,227,995 (GRCm39)	missense	probably benign	0.00
R5121:Hipk4	UTSW	7	27,228,917 (GRCm39)	missense	probably benign	0.02
R5738:Hipk4	UTSW	7	27,227,841 (GRCm39)	missense	probably damaging	1.00
R5776:Hipk4	UTSW	7	27,228,405 (GRCm39)	missense	probably damaging	1.00
R6142:Hipk4	UTSW	7	27,228,590 (GRCm39)	missense	probably damaging	1.00
R6578:Hipk4	UTSW	7	27,227,812 (GRCm39)	missense	probably damaging	1.00
R7637:Hipk4	UTSW	7	27,222,973 (GRCm39)	missense	probably damaging	1.00
R8160:Hipk4	UTSW	7	27,223,186 (GRCm39)	missense	possibly damaging	0.77
R8343:Hipk4	UTSW	7	27,223,033 (GRCm39)	missense	probably damaging	0.98
R9465:Hipk4	UTSW	7	27,229,160 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACTACCAGCTGTCGCTCAGAG -3'
(R):5'- AAGTTGGAGTCAGATTTGGAGC -3'

Sequencing Primer
(F):5'- TGTCGCTCAGAGGCTGTC -3'
(R):5'- CTTATGGCGGCCGGTCAATC -3'

Posted On

2022-04-18