Mutagenetix > Incidental Mutation

Incidental Mutation 'R7637:Hipk4'

590011

Institutional Source

Beutler Lab

Gene Symbol

Hipk4

Ensembl Gene

ENSMUSG00000040424

Gene Name

homeodomain interacting protein kinase 4

Synonyms

LOC233020

MMRRC Submission

045695-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7637 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27222692-27230600 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27222973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 11 (Y11C)

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: Y11C

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

SMART Domains

Protein: ENSMUSP00000103990
Gene: ENSMUSG00000040424
AA Change: Y11C

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

Meta Mutation Damage Score

0.8365

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,109,778 (GRCm39)	Q651L	probably benign	Het
Adam8	C	T	7: 139,565,343 (GRCm39)	V624I	probably damaging	Het
Cltc	T	C	11: 86,621,158 (GRCm39)	H287R	probably damaging	Het
Cmya5	T	C	13: 93,219,720 (GRCm39)	K3243R	possibly damaging	Het
Dock5	G	A	14: 68,023,789 (GRCm39)	T1124M	possibly damaging	Het
Fam8a1	A	T	13: 46,824,723 (GRCm39)	M237L	probably benign	Het
Fars2	G	T	13: 36,388,758 (GRCm39)	K82N	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gm57858	T	A	3: 36,101,025 (GRCm39)	Q49L	probably damaging	Het
Gnat3	A	G	5: 18,208,770 (GRCm39)	D158G		Het
Grhl2	A	C	15: 37,328,574 (GRCm39)	N400T	probably damaging	Het
Grin2c	A	T	11: 115,147,085 (GRCm39)		probably null	Het
Hspa9	G	T	18: 35,071,740 (GRCm39)	A620E	not run	Het
Igkv12-89	A	G	6: 68,812,083 (GRCm39)	S29P	probably benign	Het
Itga8	A	T	2: 12,113,998 (GRCm39)	D1039E	probably damaging	Het
Itgae	A	T	11: 73,004,457 (GRCm39)	D248V	probably damaging	Het
Kmt2c	T	C	5: 25,520,093 (GRCm39)	K2006E	probably damaging	Het
Litafd	C	T	16: 8,501,510 (GRCm39)	P59L	unknown	Het
Mdga1	C	T	17: 30,051,353 (GRCm39)	G934R	probably benign	Het
Mov10	T	C	3: 104,703,201 (GRCm39)	N896S	probably benign	Het
Ndufb6	A	T	4: 40,273,080 (GRCm39)		probably null	Het
Nlk	T	C	11: 78,481,831 (GRCm39)		probably null	Het
Notch2	T	A	3: 98,053,939 (GRCm39)	S2201T	probably damaging	Het
Or5i1	A	T	2: 87,613,778 (GRCm39)	D298V	probably damaging	Het
Pank1	A	C	19: 34,799,388 (GRCm39)		probably null	Het
Pdlim3	T	C	8: 46,362,102 (GRCm39)	F126S	probably damaging	Het
Pds5a	C	A	5: 65,795,947 (GRCm39)	G648C	probably benign	Het
Plekhh3	T	C	11: 101,055,153 (GRCm39)	I567V	unknown	Het
Ppfia2	T	C	10: 106,701,264 (GRCm39)		probably null	Het
Prl3d1	A	G	13: 27,284,052 (GRCm39)	D207G	probably damaging	Het
Prss23	T	A	7: 89,159,454 (GRCm39)	D205V	probably benign	Het
Pygl	C	T	12: 70,244,569 (GRCm39)		probably null	Het
Qsox2	A	G	2: 26,111,032 (GRCm39)	F111S	probably damaging	Het
Sart3	T	C	5: 113,909,413 (GRCm39)	N95S	probably benign	Het
Scpep1	A	G	11: 88,820,046 (GRCm39)	F414S	probably damaging	Het
Selenbp1	C	A	3: 94,844,659 (GRCm39)	Y105*	probably null	Het
Sirpa	A	G	2: 129,458,365 (GRCm39)	D327G	probably benign	Het
Sowahc	G	A	10: 59,058,005 (GRCm39)	R47H	probably damaging	Het
Szt2	T	C	4: 118,251,025 (GRCm39)	Y361C	probably damaging	Het
Taf3	A	G	2: 9,945,804 (GRCm39)	V600A	probably benign	Het
Tie1	T	C	4: 118,330,175 (GRCm39)	I1042M	probably damaging	Het
Tmem132e	T	A	11: 82,325,342 (GRCm39)	L114Q	probably damaging	Het
Tmx3	A	G	18: 90,555,233 (GRCm39)	T317A	probably damaging	Het
Tppp3	A	G	8: 106,194,924 (GRCm39)	V69A	probably benign	Het
Tpr	T	C	1: 150,299,267 (GRCm39)	Y1156H	probably damaging	Het
Trank1	A	C	9: 111,194,364 (GRCm39)	D796A	possibly damaging	Het
Tsc2	G	A	17: 24,826,466 (GRCm39)	P928S	probably benign	Het
Unc80	G	T	1: 66,711,843 (GRCm39)	V2722F	possibly damaging	Het
Vmn1r199	G	T	13: 22,566,845 (GRCm39)	L46F	probably benign	Het
Vps13a	A	T	19: 16,727,513 (GRCm39)	H196Q	probably benign	Het
Wnt10a	T	A	1: 74,832,633 (GRCm39)	C75*	probably null	Het
Zfp335	A	G	2: 164,734,459 (GRCm39)		probably null	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
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'- CAGGGGCTGAACTCATATAAGG -3'
(R):5'- TAGAACTTGAGGGCATCGTGG -3'

Sequencing Primer
(F):5'- GCTGAACTCATATAAGGAGAGACAC -3'
(R):5'- ATAACGTGGGCCTCGTCAG -3'

Posted On

2019-10-24