Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02603:Hipk1'

300154

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hipk1

Ensembl Gene

ENSMUSG00000008730

Gene Name

homeodomain interacting protein kinase 1

Synonyms

1110062K04Rik, Myak

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02603

Quality Score

Status

Chromosome

Chromosomal Location

103647131-103698879 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103657588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 832 (V832A)

Ref Sequence

ENSEMBL: ENSMUSP00000113998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029438] [ENSMUST00000106845] [ENSMUST00000106852] [ENSMUST00000118317] [ENSMUST00000137078]

AlphaFold

O88904

Predicted Effect

probably damaging
Transcript: ENSMUST00000029438
AA Change: V832A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: V832A

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
low complexity region	87	99	N/A	INTRINSIC
low complexity region	151	170	N/A	INTRINSIC
S_TKc	190	518	3.39e-76	SMART
low complexity region	586	603	N/A	INTRINSIC
low complexity region	679	695	N/A	INTRINSIC
low complexity region	941	959	N/A	INTRINSIC
low complexity region	1047	1063	N/A	INTRINSIC
low complexity region	1095	1111	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106845
AA Change: V787A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: V787A

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
low complexity region	87	99	N/A	INTRINSIC
low complexity region	151	170	N/A	INTRINSIC
S_TKc	190	518	3.39e-76	SMART
low complexity region	586	603	N/A	INTRINSIC
low complexity region	679	695	N/A	INTRINSIC
low complexity region	896	914	N/A	INTRINSIC
low complexity region	1002	1018	N/A	INTRINSIC
low complexity region	1050	1066	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106852

Predicted Effect

probably damaging
Transcript: ENSMUST00000118317
AA Change: V832A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: V832A

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
low complexity region	87	99	N/A	INTRINSIC
low complexity region	151	170	N/A	INTRINSIC
S_TKc	190	518	3.39e-76	SMART
low complexity region	586	603	N/A	INTRINSIC
low complexity region	679	695	N/A	INTRINSIC
low complexity region	941	959	N/A	INTRINSIC
low complexity region	1047	1063	N/A	INTRINSIC
low complexity region	1095	1111	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135634

Predicted Effect

probably benign
Transcript: ENSMUST00000137078

SMART Domains

Protein: ENSMUSP00000120396
Gene: ENSMUSG00000008730

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
low complexity region	87	99	N/A	INTRINSIC
low complexity region	151	170	N/A	INTRINSIC
S_TKc	190	518	3.39e-76	SMART
low complexity region	586	603	N/A	INTRINSIC
low complexity region	672	695	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200071

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile, do not develop spontaneous tumors, and are resistant to DMBA-induced skin tumor formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,637,071 (GRCm39)	S3457P	possibly damaging	Het
Aipl1	A	G	11: 71,927,526 (GRCm39)	I63T	possibly damaging	Het
Atp7b	C	T	8: 22,484,792 (GRCm39)	V1307M	possibly damaging	Het
Cdc20b	T	C	13: 113,215,289 (GRCm39)	S286P	possibly damaging	Het
Eif2ak4	G	A	2: 118,280,807 (GRCm39)	R946H	probably damaging	Het
Fam98c	A	G	7: 28,853,873 (GRCm39)	S232P	probably damaging	Het
Glt1d1	G	T	5: 127,709,409 (GRCm39)	R21L	probably damaging	Het
Gm5422	A	G	10: 31,125,436 (GRCm39)		noncoding transcript	Het
Haao	T	A	17: 84,142,970 (GRCm39)	D125V	probably benign	Het
Lrrtm4	C	A	6: 79,999,967 (GRCm39)	Q460K	possibly damaging	Het
Lyar	A	G	5: 38,391,405 (GRCm39)	N368S	probably damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Lztr1	C	A	16: 17,327,550 (GRCm39)	N84K	possibly damaging	Het
Ndufa8	C	A	2: 35,934,470 (GRCm39)	C36F	probably damaging	Het
Or11g24	T	A	14: 50,662,657 (GRCm39)	V227E	probably damaging	Het
Or2n1d	T	A	17: 38,646,404 (GRCm39)	S119T	probably damaging	Het
Psg19	A	G	7: 18,526,693 (GRCm39)	S146P	probably benign	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Spopfm3	A	T	3: 94,105,744 (GRCm39)	T21S	possibly damaging	Het

Other mutations in Hipk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Hipk1	APN	3	103,685,476 (GRCm39)	missense	possibly damaging	0.49
IGL01024:Hipk1	APN	3	103,667,952 (GRCm39)	missense	probably benign	0.31
IGL01069:Hipk1	APN	3	103,685,015 (GRCm39)	missense	possibly damaging	0.95
IGL01798:Hipk1	APN	3	103,668,875 (GRCm39)	missense	probably damaging	0.99
IGL01937:Hipk1	APN	3	103,651,320 (GRCm39)	missense	possibly damaging	0.71
IGL01945:Hipk1	APN	3	103,651,320 (GRCm39)	missense	possibly damaging	0.71
IGL02184:Hipk1	APN	3	103,666,066 (GRCm39)	missense	possibly damaging	0.96
IGL02430:Hipk1	APN	3	103,667,971 (GRCm39)	missense	probably damaging	1.00
IGL02632:Hipk1	APN	3	103,667,861 (GRCm39)	missense	probably benign	0.14
IGL02686:Hipk1	APN	3	103,685,333 (GRCm39)	missense	possibly damaging	0.82
IGL03293:Hipk1	APN	3	103,684,575 (GRCm39)	missense	possibly damaging	0.83
effluvient	UTSW	3	103,661,641 (GRCm39)	splice site	probably null
R0012:Hipk1	UTSW	3	103,670,996 (GRCm39)	missense	probably damaging	0.98
R0012:Hipk1	UTSW	3	103,670,996 (GRCm39)	missense	probably damaging	0.98
R0512:Hipk1	UTSW	3	103,667,890 (GRCm39)	missense	possibly damaging	0.95
R0741:Hipk1	UTSW	3	103,654,128 (GRCm39)	missense	probably benign	0.17
R0785:Hipk1	UTSW	3	103,661,641 (GRCm39)	splice site	probably null
R0786:Hipk1	UTSW	3	103,651,620 (GRCm39)	missense	probably benign
R0833:Hipk1	UTSW	3	103,661,612 (GRCm39)	missense	probably damaging	0.98
R0836:Hipk1	UTSW	3	103,661,612 (GRCm39)	missense	probably damaging	0.98
R1165:Hipk1	UTSW	3	103,668,840 (GRCm39)	missense	possibly damaging	0.62
R1322:Hipk1	UTSW	3	103,651,297 (GRCm39)	missense	probably damaging	1.00
R1384:Hipk1	UTSW	3	103,666,090 (GRCm39)	splice site	probably benign
R1521:Hipk1	UTSW	3	103,685,098 (GRCm39)	missense	probably benign	0.16
R1543:Hipk1	UTSW	3	103,685,480 (GRCm39)	missense	probably benign	0.00
R2085:Hipk1	UTSW	3	103,657,670 (GRCm39)	missense	probably benign	0.00
R2158:Hipk1	UTSW	3	103,667,854 (GRCm39)	missense	probably damaging	1.00
R2291:Hipk1	UTSW	3	103,668,926 (GRCm39)	missense	probably damaging	1.00
R3522:Hipk1	UTSW	3	103,651,430 (GRCm39)	missense	probably damaging	0.96
R4516:Hipk1	UTSW	3	103,657,688 (GRCm39)	missense	probably damaging	0.98
R4518:Hipk1	UTSW	3	103,657,688 (GRCm39)	missense	probably damaging	0.98
R4884:Hipk1	UTSW	3	103,651,338 (GRCm39)	missense	possibly damaging	0.47
R5023:Hipk1	UTSW	3	103,684,823 (GRCm39)	missense	probably damaging	1.00
R6045:Hipk1	UTSW	3	103,654,218 (GRCm39)	missense	probably benign	0.45
R6641:Hipk1	UTSW	3	103,660,721 (GRCm39)	missense	probably damaging	0.99
R6904:Hipk1	UTSW	3	103,684,828 (GRCm39)	missense	possibly damaging	0.90
R6925:Hipk1	UTSW	3	103,685,561 (GRCm39)	missense	unknown
R7169:Hipk1	UTSW	3	103,651,533 (GRCm39)	missense	probably benign
R7212:Hipk1	UTSW	3	103,684,926 (GRCm39)	nonsense	probably null
R7313:Hipk1	UTSW	3	103,685,574 (GRCm39)	missense	unknown
R7678:Hipk1	UTSW	3	103,667,866 (GRCm39)	missense	probably damaging	0.98
R8133:Hipk1	UTSW	3	103,660,710 (GRCm39)	missense	possibly damaging	0.83
R8154:Hipk1	UTSW	3	103,656,652 (GRCm39)	missense	probably damaging	1.00
R8166:Hipk1	UTSW	3	103,685,489 (GRCm39)	missense	possibly damaging	0.95
R8941:Hipk1	UTSW	3	103,660,743 (GRCm39)	missense	probably damaging	0.99
R8989:Hipk1	UTSW	3	103,668,960 (GRCm39)	missense	possibly damaging	0.80
R9236:Hipk1	UTSW	3	103,671,789 (GRCm39)	missense	probably damaging	1.00
R9302:Hipk1	UTSW	3	103,685,099 (GRCm39)	missense	probably benign	0.01
R9383:Hipk1	UTSW	3	103,684,883 (GRCm39)	missense	probably damaging	0.99
R9401:Hipk1	UTSW	3	103,685,295 (GRCm39)	missense	probably benign
R9729:Hipk1	UTSW	3	103,668,890 (GRCm39)	missense	probably damaging	1.00
R9798:Hipk1	UTSW	3	103,651,431 (GRCm39)	missense	possibly damaging	0.88
Z1088:Hipk1	UTSW	3	103,671,860 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16