Mutagenetix > Incidental Mutation

Incidental Mutation 'R8343:Hipk4'

645014

Institutional Source

Beutler Lab

Gene Symbol

Hipk4

Ensembl Gene

ENSMUSG00000040424

Gene Name

homeodomain interacting protein kinase 4

Synonyms

LOC233020

MMRRC Submission

067866-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8343 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27222692-27230600 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 27223033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 31 (R31L)

Ref Sequence

ENSEMBL: ENSMUSP00000103990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037134] [ENSMUST00000065487] [ENSMUST00000098644] [ENSMUST00000108353] [ENSMUST00000108355] [ENSMUST00000125990]

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 benign
Transcript: ENSMUST00000065487

SMART Domains

Protein: ENSMUSP00000066110
Gene: ENSMUSG00000053198

Domain	Start	End	E-Value	Type
PDZ	28	100	6.83e-8	SMART
low complexity region	179	232	N/A	INTRINSIC
low complexity region	267	289	N/A	INTRINSIC
low complexity region	297	310	N/A	INTRINSIC
internal_repeat_3	316	419	9.05e-5	PROSPERO
internal_repeat_2	317	428	7.28e-6	PROSPERO
internal_repeat_1	321	508	8.09e-9	PROSPERO
internal_repeat_1	503	779	8.09e-9	PROSPERO
internal_repeat_2	840	974	7.28e-6	PROSPERO
internal_repeat_3	1176	1268	9.05e-5	PROSPERO
low complexity region	1275	1314	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098644

SMART Domains

Protein: ENSMUSP00000096241
Gene: ENSMUSG00000053198

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
PDZ	28	100	6.83e-8	SMART
low complexity region	179	232	N/A	INTRINSIC
low complexity region	267	289	N/A	INTRINSIC
low complexity region	297	310	N/A	INTRINSIC
internal_repeat_3	316	419	5.13e-5	PROSPERO
internal_repeat_2	317	428	3.79e-6	PROSPERO
internal_repeat_1	321	508	3.34e-9	PROSPERO
internal_repeat_1	503	779	3.34e-9	PROSPERO
internal_repeat_2	840	974	3.79e-6	PROSPERO
internal_repeat_3	1176	1268	5.13e-5	PROSPERO
low complexity region	1275	1314	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108353
AA Change: R31L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103990
Gene: ENSMUSG00000040424
AA Change: R31L

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: ENSMUST00000108355

SMART Domains

Protein: ENSMUSP00000103992
Gene: ENSMUSG00000053198

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
PDZ	28	100	6.83e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125990

Coding Region Coverage

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

Validation Efficiency

97% (64/66)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,767,361 (GRCm39)	W156R	probably damaging	Het
Acvr1	T	A	2: 58,364,286 (GRCm39)		probably null	Het
Adamts2	G	T	11: 50,494,315 (GRCm39)	V130L	probably damaging	Het
Adcy4	C	T	14: 56,012,697 (GRCm39)	V541I	probably benign	Het
Adgrl2	C	T	3: 148,552,542 (GRCm39)	V654I	probably damaging	Het
Ago3	T	A	4: 126,270,721 (GRCm39)	K258*	probably null	Het
Akap11	A	T	14: 78,749,929 (GRCm39)	S819R		Het
Alox5ap	T	C	5: 149,224,419 (GRCm39)	F121L	probably damaging	Het
Baz2b	A	T	2: 59,731,858 (GRCm39)	M2060K	probably damaging	Het
Bltp3b	T	C	10: 89,627,281 (GRCm39)	S449P	probably benign	Het
C030005K15Rik	T	C	10: 97,561,414 (GRCm39)	I106V	unknown	Het
Carmil2	T	A	8: 106,417,716 (GRCm39)	S604T	probably benign	Het
Ccdc121rt2	C	T	5: 112,598,653 (GRCm39)	T400I	probably benign	Het
Cdhr1	T	C	14: 36,813,935 (GRCm39)	T164A	probably benign	Het
Dhx30	T	C	9: 109,914,569 (GRCm39)	E976G	possibly damaging	Het
Dnah17	C	T	11: 118,005,021 (GRCm39)	G788R	probably benign	Het
Dus2	T	C	8: 106,722,645 (GRCm39)		probably benign	Het
Etv6	T	C	6: 134,225,717 (GRCm39)	V316A	possibly damaging	Het
Fabp9	T	G	3: 10,259,085 (GRCm39)	K107T	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gapdh	A	G	6: 125,140,226 (GRCm39)	V92A	probably benign	Het
Gfy	A	G	7: 44,826,019 (GRCm39)	L453P	probably damaging	Het
Gp2	C	T	7: 119,042,010 (GRCm39)	C505Y	probably benign	Het
Gtpbp8	T	C	16: 44,566,676 (GRCm39)	R9G	probably benign	Het
Htt	T	A	5: 35,063,068 (GRCm39)	M2900K	probably damaging	Het
Ighv1-20	T	C	12: 114,687,810 (GRCm39)	I6V	probably benign	Het
Il17d	C	T	14: 57,779,937 (GRCm39)	T153I	probably damaging	Het
Izumo3	T	A	4: 92,034,581 (GRCm39)	N117I	probably damaging	Het
Kcnh7	T	C	2: 62,680,879 (GRCm39)	D236G	probably benign	Het
Kmt2d	T	C	15: 98,750,478 (GRCm39)	D2405G	unknown	Het
Map4k2	T	C	19: 6,396,596 (GRCm39)	W533R	probably damaging	Het
Matn1	C	A	4: 130,673,300 (GRCm39)	Y89*	probably null	Het
Mettl18	T	A	1: 163,824,509 (GRCm39)	Y277N	probably damaging	Het
Muc5b	G	A	7: 141,417,898 (GRCm39)	G3615S	probably benign	Het
Mycbp2	A	C	14: 103,398,111 (GRCm39)		probably null	Het
Myh4	T	A	11: 67,143,390 (GRCm39)	S1041T	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naaladl1	T	C	19: 6,159,703 (GRCm39)	V378A	possibly damaging	Het
Nars1	T	C	18: 64,637,458 (GRCm39)	D374G	probably benign	Het
Neb	C	T	2: 52,198,283 (GRCm39)		probably null	Het
Neurl1b	A	G	17: 26,650,965 (GRCm39)	Y79C	probably damaging	Het
Nynrin	A	G	14: 56,101,248 (GRCm39)	T306A	probably benign	Het
Ola1	G	T	2: 73,029,745 (GRCm39)	R125S	probably damaging	Het
Or12d15	T	A	17: 37,694,122 (GRCm39)	F221L	probably benign	Het
Or51a43	A	T	7: 103,717,383 (GRCm39)	V285D	probably damaging	Het
Pak1ip1	C	A	13: 41,158,214 (GRCm39)	T29K	probably benign	Het
Podnl1	T	A	8: 84,857,402 (GRCm39)	L337H		Het
Rictor	T	G	15: 6,807,800 (GRCm39)		probably null	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sel1l2	T	C	2: 140,072,753 (GRCm39)	I627M	probably benign	Het
Sh3rf2	T	C	18: 42,244,493 (GRCm39)	S352P	probably damaging	Het
Slc6a6	G	A	6: 91,703,224 (GRCm39)	W199*	probably null	Het
Smc2	T	A	4: 52,450,965 (GRCm39)	V261E	probably benign	Het
Sorcs3	G	A	19: 48,692,808 (GRCm39)		probably null	Het
Spdye4a	T	A	5: 143,211,562 (GRCm39)	M1L	probably benign	Het
Stag1	T	C	9: 100,639,819 (GRCm39)	I125T	possibly damaging	Het
Stx8	T	A	11: 67,911,814 (GRCm39)	D177E	probably benign	Het
Sun2	T	C	15: 79,623,125 (GRCm39)	Y71C	probably damaging	Het
Tmed9	T	C	13: 55,742,617 (GRCm39)	F129L	probably benign	Het
Tmem216	T	A	19: 10,529,336 (GRCm39)	T17S	probably benign	Het
Tmpo	A	T	10: 90,997,974 (GRCm39)	N604K	probably benign	Het
Tmprss11f	T	A	5: 86,681,666 (GRCm39)	I196F	probably benign	Het
Tnks	A	G	8: 35,301,738 (GRCm39)	F1244L	probably benign	Het
Tspan2	T	C	3: 102,676,226 (GRCm39)	C212R	probably damaging	Het
Tspan4	A	G	7: 141,071,718 (GRCm39)	D155G	probably damaging	Het
Ttc6	T	C	12: 57,707,282 (GRCm39)	F730L	possibly damaging	Het
Txnrd2	G	A	16: 18,245,291 (GRCm39)	A33T	unknown	Het
Wnk1	C	T	6: 119,940,454 (GRCm39)	R761H	probably damaging	Het
Zfp217	T	C	2: 169,962,024 (GRCm39)	D101G	probably damaging	Het
Zfp281	T	C	1: 136,555,620 (GRCm39)	F866S	probably 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
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'- CAGGGGCTGAACTCATATAAGG -3'
(R):5'- GCTCGAAGACCAGGTAGAAC -3'

Sequencing Primer
(F):5'- GACTAGCTAGGGGCCATCATCAG -3'
(R):5'- CCAGGTAGAACTTGAGGGCATC -3'

Posted On

2020-09-02