Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Hipk1'

267523

Institutional Source

Beutler Lab

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 #

R3522 (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 103744114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1111 (V1111A)

Ref Sequence

ENSEMBL: ENSMUSP00000102458 (fasta)

Gene Model

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

AlphaFold

O88904

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029438
AA Change: V1156A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: V1156A

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: V1111A

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

SMART Domains

Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: V1111A

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

possibly damaging
Transcript: ENSMUST00000118317
AA Change: V1156A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: V1156A

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 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

Meta Mutation Damage Score

0.0701

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,549,626		probably null	Het
Ankrd35	A	G	3: 96,685,062	E888G	probably damaging	Het
Arhgef10	T	C	8: 14,954,918	F150S	probably damaging	Het
Atp10d	G	T	5: 72,239,157	R235L	probably benign	Het
Cacna1b	A	G	2: 24,763,043	V2A	possibly damaging	Het
Cand1	A	T	10: 119,239,197	L15Q	probably benign	Het
Cavin3	C	A	7: 105,481,143	G154V	probably benign	Het
Ccdc73	A	T	2: 104,991,485	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,250,410	K161E	probably damaging	Het
Chil4	A	T	3: 106,203,740	N279K	probably benign	Het
Chst13	T	G	6: 90,318,263	D56A	probably damaging	Het
Cnn1	C	A	9: 22,099,368	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,702,493	K88N	probably damaging	Het
Ctnnbl1	G	T	2: 157,871,193		probably null	Het
Dnah7a	A	C	1: 53,618,116	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,484,181	S182P	probably benign	Het
Fkbp5	T	C	17: 28,415,996	T180A	probably benign	Het
Flg2	T	A	3: 93,220,027	I2082N	unknown	Het
Gm4968	A	G	6: 127,233,762		noncoding transcript	Het
Gpc5	T	A	14: 116,524,335	H612Q	probably benign	Het
Gsg1	A	T	6: 135,241,253	V212D	probably damaging	Het
Hormad1	A	T	3: 95,576,285	Q136L	probably benign	Het
Ifi35	T	A	11: 101,457,685	S147R	probably benign	Het
Iqgap3	C	T	3: 88,090,782	A282V	probably null	Het
Jmy	T	C	13: 93,454,050	D515G	probably damaging	Het
Kctd10	G	A	5: 114,374,923	R64C	probably damaging	Het
Kidins220	T	C	12: 24,990,758	V121A	probably damaging	Het
Lcn3	G	A	2: 25,766,121	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,639,531	Y72F	probably benign	Het
Lrp1	T	C	10: 127,553,555	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,719,768	V222M	probably damaging	Het
Mst1	T	C	9: 108,081,503		probably benign	Het
Myo7b	C	A	18: 32,010,079	V189F	probably damaging	Het
Ndc1	T	C	4: 107,393,158	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,944,027	D164G	probably damaging	Het
Nol11	C	T	11: 107,173,628	C500Y	possibly damaging	Het
Nsd3	A	G	8: 25,706,614	N1208D	probably benign	Het
Nup155	C	T	15: 8,156,678		probably benign	Het
Olfr768	A	G	10: 129,093,842	I44T	possibly damaging	Het
Olfr911-ps1	A	G	9: 38,523,785	T18A	probably damaging	Het
Olfr921	A	T	9: 38,775,720	D155V	possibly damaging	Het
Olfr988	A	T	2: 85,353,003	C308S	probably benign	Het
Phf3	A	G	1: 30,805,603	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,448,906	Y777H	probably damaging	Het
Pld1	A	G	3: 28,031,247	E184G	probably damaging	Het
Plxna1	T	C	6: 89,337,353		probably null	Het
Ptgfrn	T	C	3: 101,043,402	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,589,854		probably benign	Het
Pygb	G	T	2: 150,828,553	V763F	probably benign	Het
Ros1	A	C	10: 52,090,995	Y1705*	probably null	Het
Sec61a2	A	G	2: 5,893,216	F5L	probably benign	Het
Skint5	A	G	4: 113,756,905		probably null	Het
Sntg2	A	G	12: 30,312,567	V60A	probably damaging	Het
Sppl2a	A	G	2: 126,920,322	C280R	possibly damaging	Het
Srrm4	A	C	5: 116,446,544	M1R	probably null	Het
Sult1c1	T	C	17: 53,972,015	E91G	probably damaging	Het
Themis2	C	G	4: 132,785,595	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,059	L232P	probably benign	Het
Trappc1	T	C	11: 69,324,422	F43L	probably damaging	Het
Trappc11	A	T	8: 47,498,673	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,627,405	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,663,075		probably null	Het
Vmn1r184	T	A	7: 26,267,583	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,099,374	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,747,865	V233F	probably benign	Het
Vps13a	A	C	19: 16,766,493		probably benign	Het
Vwa5b2	A	G	16: 20,601,608	S756G	probably damaging	Het
Wdr36	T	A	18: 32,861,485		probably null	Het
Wdr86	A	G	5: 24,718,307	V129A	probably benign	Het
Zfyve9	A	G	4: 108,719,743	L47S	probably benign	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
R2158:Hipk1	UTSW	3	103760538	missense	probably damaging	1.00
R2291:Hipk1	UTSW	3	103761610	missense	probably damaging	1.00
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
R8133:Hipk1	UTSW	3	103753394	missense	possibly damaging	0.83
R8154:Hipk1	UTSW	3	103749336	missense	probably damaging	1.00
R8166:Hipk1	UTSW	3	103778173	missense	possibly damaging	0.95
R8941:Hipk1	UTSW	3	103753427	missense	probably damaging	0.99
R8989:Hipk1	UTSW	3	103761644	missense	possibly damaging	0.80
R9236:Hipk1	UTSW	3	103764473	missense	probably damaging	1.00
R9302:Hipk1	UTSW	3	103777783	missense	probably benign	0.01
R9383:Hipk1	UTSW	3	103777567	missense	probably damaging	0.99
R9401:Hipk1	UTSW	3	103777979	missense	probably benign
R9729:Hipk1	UTSW	3	103761574	missense	probably damaging	1.00
R9798:Hipk1	UTSW	3	103744115	missense	possibly damaging	0.88
Z1088:Hipk1	UTSW	3	103764544	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCGTGCTCATCAACTACAAGTAAG -3'
(R):5'- AGACAGCAGGCATTTGTGGC -3'

Sequencing Primer
(F):5'- GAATACTGACTGATCTTGGTAGGAC -3'
(R):5'- TACGCCTTCCAGCATGGCAG -3'

Posted On

2015-02-18