Mutagenetix > Incidental Mutation

Incidental Mutation 'R6142:Hipk4'

488626

Institutional Source

Beutler Lab

Gene Symbol

Hipk4

Ensembl Gene

ENSMUSG00000040424

Gene Name

homeodomain interacting protein kinase 4

Synonyms

LOC233020

MMRRC Submission

044289-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6142 (G1)

Quality Score

161.009

Status

Validated

Chromosome

Chromosomal Location

27222692-27230600 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27228590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 347 (V347M)

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: V143M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043175
Gene: ENSMUSG00000040424
AA Change: V143M

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: V347M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103990
Gene: ENSMUSG00000040424
AA Change: V347M

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: ENSMUST00000142981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155287

Meta Mutation Damage Score

0.1302

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.2%

Validation Efficiency

100% (48/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	T	C	15: 98,496,303 (GRCm39)	M579V	probably benign	Het
Agtr1b	T	C	3: 20,370,558 (GRCm39)	D16G	probably benign	Het
Akap12	C	A	10: 4,263,740 (GRCm39)		probably null	Het
Alpk2	T	C	18: 65,438,456 (GRCm39)	E979G	possibly damaging	Het
Arfgap3	T	C	15: 83,234,328 (GRCm39)	D8G	probably damaging	Het
AW551984	G	T	9: 39,508,410 (GRCm39)	L369I	probably benign	Het
Bmp8b	A	T	4: 123,009,043 (GRCm39)	H207L	probably benign	Het
Cc2d2a	G	T	5: 43,860,540 (GRCm39)	V490F	probably damaging	Het
Cnot6l	C	T	5: 96,230,837 (GRCm39)	V377I	probably benign	Het
Col25a1	T	A	3: 130,376,978 (GRCm39)		probably benign	Het
Crocc2	C	G	1: 93,118,201 (GRCm39)	Q375E	possibly damaging	Het
Ganc	T	C	2: 120,261,218 (GRCm39)		probably null	Het
Gm28168	C	A	1: 117,875,678 (GRCm39)	D102E	probably benign	Het
Gm8212	T	C	14: 44,438,684 (GRCm39)		probably null	Het
Gria2	T	C	3: 80,709,024 (GRCm39)	T53A	probably benign	Het
Hmgxb3	T	C	18: 61,269,309 (GRCm39)	E991G	probably benign	Het
Hyal1	G	A	9: 107,456,573 (GRCm39)	R420H	probably benign	Het
Il5	G	A	11: 53,611,805 (GRCm39)		probably null	Het
Kcnh7	T	C	2: 62,569,704 (GRCm39)	I731V	possibly damaging	Het
Lamb2	A	T	9: 108,362,817 (GRCm39)	K759*	probably null	Het
Lnpep	A	G	17: 17,786,943 (GRCm39)		probably null	Het
Lrch1	T	C	14: 75,184,940 (GRCm39)	E54G	probably damaging	Het
Msl3l2	A	G	10: 55,991,461 (GRCm39)	D62G	possibly damaging	Het
Mslnl	T	C	17: 25,963,531 (GRCm39)	L339P	probably damaging	Het
Nfe2l2	T	C	2: 75,509,761 (GRCm39)	I20V	probably damaging	Het
Pgm5	A	C	19: 24,801,772 (GRCm39)	I152S	probably damaging	Het
Plcg2	C	A	8: 118,312,010 (GRCm39)	T434K	probably benign	Het
Prrc2c	T	C	1: 162,537,956 (GRCm39)	E558G	unknown	Het
Ranbp3	T	C	17: 56,993,018 (GRCm39)	V12A	probably benign	Het
Rgsl1	A	G	1: 153,687,984 (GRCm39)	V635A	probably benign	Het
Rpap2	T	C	5: 107,746,164 (GRCm39)	V14A	probably benign	Het
Rxrg	G	T	1: 167,460,191 (GRCm39)	A341S	possibly damaging	Het
Sbf2	A	G	7: 109,948,182 (GRCm39)	S1177P	probably damaging	Het
Sema6a	T	C	18: 47,414,266 (GRCm39)	T498A	probably benign	Het
Slc13a4	G	A	6: 35,278,718 (GRCm39)	A57V	probably damaging	Het
Slc6a3	A	T	13: 73,692,902 (GRCm39)	D174V	probably benign	Het
Spart	T	G	3: 55,024,669 (GRCm39)	V88G	probably damaging	Het
Tanc1	A	T	2: 59,663,566 (GRCm39)	R1108*	probably null	Het
Tas2r140	C	T	6: 133,032,698 (GRCm39)	G20E	probably damaging	Het
Tdrd6	A	G	17: 43,940,373 (GRCm39)	V225A	probably benign	Het
Tmem168	C	A	6: 13,591,368 (GRCm39)	A99S	probably benign	Het
Tnk2	T	A	16: 32,488,917 (GRCm39)	D252E	probably damaging	Het
Tpsg1	A	T	17: 25,591,460 (GRCm39)	H20L	probably benign	Het
Tram1l1	T	C	3: 124,115,092 (GRCm39)	F84S	probably damaging	Het
Vmn2r12	T	A	5: 109,240,763 (GRCm39)	I117L	probably benign	Het
Zfp148	T	C	16: 33,315,829 (GRCm39)	L219S	possibly damaging	Het
Zfp40	C	A	17: 23,395,311 (GRCm39)	E425D	probably benign	Het
Zfp773	T	C	7: 7,135,481 (GRCm39)	T372A	probably benign	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
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'- AATCCTTGGACCAGATTGAGACAG -3'
(R):5'- CTTGTCCTCCCTGAAGAAGG -3'

Sequencing Primer
(F):5'- CTTGGACCAGATTGAGACAGTGAATG -3'
(R):5'- TGAAGAAGGACCCACTGCCTG -3'

Posted On

2017-10-10