Mutagenetix > Incidental Mutations

Incidental Mutation 'R2158:Hipk1'

234973

Institutional Source

Beutler Lab

Gene Symbol

Hipk1

Ensembl Gene

ENSMUSG00000008730

Gene Name

homeodomain interacting protein kinase 1

Synonyms

1110062K04Rik, Myak

MMRRC Submission

040161-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103739815-103791563 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103760538 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 571 (L571P)

Ref Sequence

ENSEMBL: ENSMUSP00000120396 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029438
AA Change: L571P

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

SMART Domains

Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: L571P

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: L571P

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

SMART Domains

Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: L571P

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 damaging
Transcript: ENSMUST00000118317
AA Change: L571P

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

SMART Domains

Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: L571P

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: ENSMUST00000135634

Predicted Effect

probably damaging
Transcript: ENSMUST00000137078
AA Change: L571P

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

SMART Domains

Protein: ENSMUSP00000120396
Gene: ENSMUSG00000008730
AA Change: L571P

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

Meta Mutation Damage Score

0.3635

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,716,608	V65A	possibly damaging	Het
4930402F06Rik	A	T	2: 35,385,668	S38T	possibly damaging	Het
Adam4	A	G	12: 81,421,763	L28S	probably damaging	Het
Agmo	T	A	12: 37,357,710	F198I	probably damaging	Het
Akap7	A	G	10: 25,171,164	V45A	probably damaging	Het
Amotl1	G	T	9: 14,575,169	N476K	probably benign	Het
Apcs	A	G	1: 172,894,533	L82P	probably damaging	Het
Armc3	C	A	2: 19,248,633	P195Q	probably damaging	Het
Astn2	A	T	4: 66,404,254	L36Q	unknown	Het
Atad2	A	T	15: 58,098,566	S870T	possibly damaging	Het
Bmp10	A	T	6: 87,434,080	D285V	probably benign	Het
Caskin1	T	C	17: 24,505,154	V972A	probably benign	Het
Ccdc141	T	A	2: 77,030,671	N921Y	probably damaging	Het
Cntnap5b	A	T	1: 100,390,572	D1019V	probably damaging	Het
Eml5	T	C	12: 98,843,946		probably benign	Het
Evi5l	T	C	8: 4,193,195	Y360H	probably damaging	Het
Ewsr1	A	G	11: 5,091,450		probably benign	Het
Fn3k	A	T	11: 121,448,886	N158I	probably damaging	Het
Galnt17	C	T	5: 130,906,702	R381Q	probably damaging	Het
Golga3	A	T	5: 110,187,361	K180N	probably damaging	Het
Hormad2	T	A	11: 4,424,808	K69*	probably null	Het
Hspg2	A	T	4: 137,517,604	D880V	probably damaging	Het
Ido2	T	A	8: 24,540,636	D226V	probably damaging	Het
Irs3	A	G	5: 137,644,699	F159S	probably damaging	Het
Itgb1bp1	T	C	12: 21,276,859	T38A	probably damaging	Het
Kif11	A	G	19: 37,410,614	I749V	probably benign	Het
Lrp1b	T	G	2: 40,879,555	M2811L	probably benign	Het
Lysmd3	A	G	13: 81,669,618	Y238C	probably damaging	Het
Mapk11	G	A	15: 89,146,372	T106M	probably damaging	Het
Mdga2	C	T	12: 66,689,381	V358I	possibly damaging	Het
Muc4	C	T	16: 32,754,563	T1479I	probably benign	Het
Myom1	T	C	17: 71,064,597	V578A	possibly damaging	Het
Nek10	T	G	14: 14,885,047		probably null	Het
Nid2	G	A	14: 19,778,043	G516S	probably benign	Het
Olfr328	T	A	11: 58,551,942	Q99L	probably damaging	Het
Olfr620	G	C	7: 103,612,236	T39R	possibly damaging	Het
Olfr645	T	G	7: 104,084,826	T85P	probably benign	Het
Olfr69	G	T	7: 103,767,961	C145*	probably null	Het
Olfr728	T	A	14: 50,140,123	N172I	probably damaging	Het
Olfr930	T	C	9: 38,930,579	M136T	probably damaging	Het
Pde4dip	A	T	3: 97,757,621	C333S	probably benign	Het
Pglyrp2	T	A	17: 32,418,248	I269F	probably benign	Het
Plch1	A	G	3: 63,721,234	V536A	probably benign	Het
Popdc2	T	A	16: 38,362,826	L57Q	probably damaging	Het
Pramef17	T	C	4: 143,994,315	R19G	possibly damaging	Het
Riox1	A	G	12: 83,950,935	K82E	probably benign	Het
Rnasel	G	A	1: 153,754,901	V388M	probably damaging	Het
Smc1b	A	G	15: 85,121,851		probably benign	Het
Snx25	A	G	8: 46,041,407	S814P	probably damaging	Het
Spta1	A	T	1: 174,229,258	H1859L	probably benign	Het
Strc	T	C	2: 121,365,862	I1562V	probably benign	Het
Taar5	T	A	10: 23,971,088	I128N	probably damaging	Het
Ttc28	C	T	5: 111,177,617		probably benign	Het
Vcan	A	T	13: 89,703,529	M1104K	possibly damaging	Het
Vnn1	C	T	10: 23,900,755	Q335*	probably null	Het
Zic1	T	C	9: 91,364,893	D42G	possibly damaging	Het

Other mutations in Hipk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Hipk1	APN	3	103778160	missense	possibly damaging	0.49
IGL01024:Hipk1	APN	3	103760636	missense	probably benign	0.31
IGL01069:Hipk1	APN	3	103777699	missense	possibly damaging	0.95
IGL01798:Hipk1	APN	3	103761559	missense	probably damaging	0.99
IGL01937:Hipk1	APN	3	103744004	missense	possibly damaging	0.71
IGL01945:Hipk1	APN	3	103744004	missense	possibly damaging	0.71
IGL02184:Hipk1	APN	3	103758750	missense	possibly damaging	0.96
IGL02430:Hipk1	APN	3	103760655	missense	probably damaging	1.00
IGL02603:Hipk1	APN	3	103750272	missense	probably damaging	0.97
IGL02632:Hipk1	APN	3	103760545	missense	probably benign	0.14
IGL02686:Hipk1	APN	3	103778017	missense	possibly damaging	0.82
IGL03293:Hipk1	APN	3	103777259	missense	possibly damaging	0.83
effluvient	UTSW	3	103754325	splice site	probably null
R0012:Hipk1	UTSW	3	103763680	missense	probably damaging	0.98
R0012:Hipk1	UTSW	3	103763680	missense	probably damaging	0.98
R0512:Hipk1	UTSW	3	103760574	missense	possibly damaging	0.95
R0741:Hipk1	UTSW	3	103746812	missense	probably benign	0.17
R0785:Hipk1	UTSW	3	103754325	splice site	probably null
R0786:Hipk1	UTSW	3	103744304	missense	probably benign
R0833:Hipk1	UTSW	3	103754296	missense	probably damaging	0.98
R0836:Hipk1	UTSW	3	103754296	missense	probably damaging	0.98
R1165:Hipk1	UTSW	3	103761524	missense	possibly damaging	0.62
R1322:Hipk1	UTSW	3	103743981	missense	probably damaging	1.00
R1384:Hipk1	UTSW	3	103758774	splice site	probably benign
R1521:Hipk1	UTSW	3	103777782	missense	probably benign	0.16
R1543:Hipk1	UTSW	3	103778164	missense	probably benign	0.00
R2085:Hipk1	UTSW	3	103750354	missense	probably benign	0.00
R2291:Hipk1	UTSW	3	103761610	missense	probably damaging	1.00
R3522:Hipk1	UTSW	3	103744114	missense	probably damaging	0.96
R4516:Hipk1	UTSW	3	103750372	missense	probably damaging	0.98
R4518:Hipk1	UTSW	3	103750372	missense	probably damaging	0.98
R4884:Hipk1	UTSW	3	103744022	missense	possibly damaging	0.47
R5023:Hipk1	UTSW	3	103777507	missense	probably damaging	1.00
R6045:Hipk1	UTSW	3	103746902	missense	probably benign	0.45
R6641:Hipk1	UTSW	3	103753405	missense	probably damaging	0.99
R6904:Hipk1	UTSW	3	103777512	missense	possibly damaging	0.90
R6925:Hipk1	UTSW	3	103778245	missense	unknown
R7169:Hipk1	UTSW	3	103744217	missense	probably benign
R7212:Hipk1	UTSW	3	103777610	nonsense	probably null
R7313:Hipk1	UTSW	3	103778258	missense	unknown
R7678:Hipk1	UTSW	3	103760550	missense	probably damaging	0.98
Z1088:Hipk1	UTSW	3	103764544	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGGCCTGCATTATTATCACACATG -3'
(R):5'- CTTGTTAGAACAACCCTTGGTTC -3'

Sequencing Primer
(F):5'- TGCACGGCAAGGACTTTTAC -3'
(R):5'- GAACAACCCTTGGTTCTTCTTTCTG -3'

Posted On

2014-10-01