Mutagenetix > Incidental Mutation

Incidental Mutation 'R5738:Hipk4'

444623

Institutional Source

Beutler Lab

Gene Symbol

Hipk4

Ensembl Gene

ENSMUSG00000040424

Gene Name

homeodomain interacting protein kinase 4

Synonyms

LOC233020

MMRRC Submission

043350-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5738 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27222692-27230600 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27227841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 196 (V196M)

Ref Sequence

ENSEMBL: ENSMUSP00000103990 (fasta)

Gene Model

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

AlphaFold

Q3V016

Predicted Effect

probably benign
Transcript: ENSMUST00000037134

SMART Domains

Protein: ENSMUSP00000043175
Gene: ENSMUSG00000040424

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: V196M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103990
Gene: ENSMUSG00000040424
AA Change: V196M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155287

Meta Mutation Damage Score

0.6286

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (52/53)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,571,917 (GRCm39)	D4826V	probably damaging	Het
Acoxl	G	A	2: 127,719,686 (GRCm39)	C149Y	probably benign	Het
Adamts3	G	T	5: 89,856,527 (GRCm39)	H349N	probably damaging	Het
Ap2b1	A	G	11: 83,227,256 (GRCm39)		probably null	Het
Ap3m2	T	C	8: 23,293,877 (GRCm39)	S58G	possibly damaging	Het
Bhmt2	A	T	13: 93,799,798 (GRCm39)	W213R	probably benign	Het
Cacna1h	T	G	17: 25,606,023 (GRCm39)	D1092A	probably damaging	Het
Cbfb	A	C	8: 105,929,193 (GRCm39)	Q170P	probably damaging	Het
Ccdc73	A	C	2: 104,761,331 (GRCm39)	K110N	possibly damaging	Het
Cep350	C	A	1: 155,741,824 (GRCm39)	R2149L	probably damaging	Het
Cog2	A	G	8: 125,272,777 (GRCm39)	T525A	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fbxl5	A	G	5: 43,920,170 (GRCm39)	I251T	probably benign	Het
Fscn3	A	G	6: 28,430,030 (GRCm39)	K67E	possibly damaging	Het
Glmp	T	A	3: 88,233,445 (GRCm39)	N133K	probably benign	Het
Gpr179	T	C	11: 97,242,232 (GRCm39)	N204S	probably damaging	Het
Gtf2ird1	C	T	5: 134,412,672 (GRCm39)	R613Q	probably damaging	Het
Hepacam	A	G	9: 37,294,721 (GRCm39)	D285G	possibly damaging	Het
Hlx	A	T	1: 184,463,754 (GRCm39)		probably null	Het
Igf2r	A	T	17: 12,936,254 (GRCm39)	D597E	probably benign	Het
Ighm	T	C	12: 113,385,115 (GRCm39)	T282A	unknown	Het
Igsf9b	T	C	9: 27,239,826 (GRCm39)	C624R	probably damaging	Het
Ksr2	T	C	5: 117,886,864 (GRCm39)	V800A	probably damaging	Het
Lyn	A	T	4: 3,782,987 (GRCm39)	I386F	probably damaging	Het
Melk	A	G	4: 44,310,333 (GRCm39)	D102G	probably damaging	Het
Mettl1	G	T	10: 126,877,863 (GRCm39)	E4*	probably null	Het
Mybl2	C	T	2: 162,910,203 (GRCm39)	Q210*	probably null	Het
Naga	C	T	15: 82,219,054 (GRCm39)	W231*	probably null	Het
Or2y3	T	C	17: 38,393,347 (GRCm39)	Y174C	probably damaging	Het
Or4k2	C	T	14: 50,424,105 (GRCm39)	V190I	probably benign	Het
Or7g16	T	C	9: 18,727,125 (GRCm39)	N155S	possibly damaging	Het
Otud4	T	C	8: 80,400,090 (GRCm39)	S935P	probably benign	Het
P2rx7	C	T	5: 122,790,852 (GRCm39)	T63I	probably damaging	Het
Pga5	A	T	19: 10,647,024 (GRCm39)	N260K	probably benign	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Plch1	T	A	3: 63,681,076 (GRCm39)	R184W	probably damaging	Het
Ppm1b	T	C	17: 85,301,374 (GRCm39)	F85L	probably benign	Het
Prtg	T	A	9: 72,819,288 (GRCm39)	F1094I	probably benign	Het
Ralgds	G	A	2: 28,432,538 (GRCm39)		probably benign	Het
Rgs17	A	C	10: 5,783,140 (GRCm39)	V149G	probably damaging	Het
Rnf168	A	G	16: 32,101,192 (GRCm39)	E124G	probably damaging	Het
Sav1	T	C	12: 70,022,817 (GRCm39)	E245G	possibly damaging	Het
Slc25a19	T	C	11: 115,515,060 (GRCm39)	I33V	probably benign	Het
Sptbn1	T	C	11: 30,095,941 (GRCm39)	I318V	probably damaging	Het
Tas2r136	A	G	6: 132,754,707 (GRCm39)	L140P	probably damaging	Het
Tbc1d9	A	G	8: 83,997,655 (GRCm39)	I1071V	probably benign	Het
Tecta	G	T	9: 42,284,474 (GRCm39)	N870K	possibly damaging	Het
Tmem230	G	A	2: 132,086,048 (GRCm39)	P38L	possibly damaging	Het
Trpa1	G	T	1: 14,946,174 (GRCm39)	H986N	probably damaging	Het
Wdr41	A	T	13: 95,114,996 (GRCm39)	I24L	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
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
R9324:Hipk4	UTSW	7	27,228,834 (GRCm39)	missense	probably damaging	0.96
R9465:Hipk4	UTSW	7	27,229,160 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCAGACAGAGCCAGACCTG -3'
(R):5'- CGCTTGAAGAAGTGGTGAGC -3'

Sequencing Primer
(F):5'- AGGGGCCTATCCTGTCATC -3'
(R):5'- CTTGAAGAAGTGGTGAGCCTTGC -3'

Posted On

2016-11-21