Mutagenetix > Incidental Mutation

Incidental Mutation 'R0833:Hipk1'

77614

Institutional Source

Beutler Lab

Gene Symbol

Hipk1

Ensembl Gene

ENSMUSG00000008730

Gene Name

homeodomain interacting protein kinase 1

Synonyms

1110062K04Rik, Myak

MMRRC Submission

039012-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0833 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

103739815-103791563 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103754296 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 670 (S670P)

Ref Sequence

ENSEMBL: ENSMUSP00000113998 (fasta)

Gene Model

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

AlphaFold

O88904

Predicted Effect

probably damaging
Transcript: ENSMUST00000029438
AA Change: S670P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029438
Gene: ENSMUSG00000008730
AA Change: S670P

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: S670P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102458
Gene: ENSMUSG00000008730
AA Change: S670P

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: S670P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730
AA Change: S670P

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

unknown
Transcript: ENSMUST00000137078
AA Change: F712S

SMART Domains

Protein: ENSMUSP00000120396
Gene: ENSMUSG00000008730
AA Change: F712S

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

0.0921

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.6%

Validation Efficiency

100% (97/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,165,069	L41P	probably damaging	Het
3110082I17Rik	A	G	5: 139,364,120	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 53,724,346		noncoding transcript	Het
Aldh1a7	C	T	19: 20,702,243	V390M	probably damaging	Het
Alg14	A	G	3: 121,298,610	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,608,347	N337S	probably damaging	Het
Apoa2	T	A	1: 171,225,379		probably benign	Het
Arl2	T	G	19: 6,136,022	K126T	probably damaging	Het
Ascc3	T	C	10: 50,845,666	W2072R	probably benign	Het
Astl	T	C	2: 127,342,419	F21L	probably benign	Het
Asxl3	A	G	18: 22,516,040	D362G	probably damaging	Het
Bdp1	A	T	13: 100,035,825	H2094Q	probably benign	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cbwd1	A	G	19: 24,940,839		probably benign	Het
Ccdc144b	A	G	3: 36,020,213		probably benign	Het
Ccdc85a	T	A	11: 28,583,296	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394	M336K	probably benign	Het
Cd226	A	C	18: 89,207,020		probably benign	Het
Ces1f	A	T	8: 93,270,024	S214T	probably damaging	Het
Clip1	T	C	5: 123,630,721	D605G	probably benign	Het
Col26a1	A	G	5: 136,765,300		probably null	Het
Crtc1	A	G	8: 70,393,013	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580		probably benign	Het
D17H6S53E	A	T	17: 35,127,409		probably null	Het
D17Wsu92e	A	T	17: 27,786,138	S148R	probably damaging	Het
Dnah11	G	A	12: 118,196,662	A111V	probably benign	Het
Dyrk2	T	C	10: 118,861,122	H77R	probably benign	Het
E330017A01Rik	G	A	16: 58,635,523	S129L	probably damaging	Het
Epha3	A	G	16: 63,603,519		probably benign	Het
Epn2	T	C	11: 61,519,491	N611S	probably benign	Het
Erich6	A	C	3: 58,618,944		probably benign	Het
Fam217b	T	C	2: 178,420,989	S249P	probably benign	Het
Fam219b	A	G	9: 57,538,016		probably benign	Het
Fryl	A	T	5: 73,089,081		probably benign	Het
Gm12800	G	A	4: 101,910,097	C181Y	probably damaging	Het
Gm13089	A	T	4: 143,698,486	M129K	probably benign	Het
Gm14496	T	C	2: 181,996,266	W378R	probably damaging	Het
Gm5155	C	A	7: 17,904,981	A301E	possibly damaging	Het
Gm8674	A	T	13: 49,904,575		noncoding transcript	Het
Grap	T	A	11: 61,660,239	D32E	possibly damaging	Het
Grk2	C	A	19: 4,289,357	L428F	probably damaging	Het
Grm8	T	A	6: 27,363,179	E779V	probably damaging	Het
Itgae	A	T	11: 73,129,206	M845L	probably benign	Het
Itih1	A	T	14: 30,941,555	V164E	probably damaging	Het
Itpka	T	A	2: 119,750,831	N448K	probably damaging	Het
Jak3	A	C	8: 71,683,978	N643T	probably damaging	Het
Lrfn5	A	C	12: 61,839,668	T81P	probably damaging	Het
Lrrc45	T	A	11: 120,718,193		probably null	Het
March6	T	C	15: 31,480,291	Y562C	probably benign	Het
Mcrs1	T	C	15: 99,243,449		probably benign	Het
Meis1	G	A	11: 18,881,767	H424Y	possibly damaging	Het
Mst1r	G	A	9: 107,913,167	V660I	probably benign	Het
Mst1r	A	G	9: 107,914,776	N837S	probably benign	Het
Mthfd2l	T	C	5: 90,946,942	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,087,937	I312F	probably benign	Het
Olfr1513	T	C	14: 52,349,378	I223V	probably benign	Het
Olfr578	C	A	7: 102,984,836	L109F	possibly damaging	Het
Olfr875	T	C	9: 37,773,076	V139A	probably benign	Het
Otog	C	T	7: 46,269,362	T954I	possibly damaging	Het
Pdcd6	A	G	13: 74,316,324		probably benign	Het
Phlpp2	A	G	8: 109,937,106	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,181,907		probably benign	Het
Plekha5	T	A	6: 140,589,634		probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Rab27b	T	C	18: 69,987,041		probably benign	Het
Rapsn	T	C	2: 91,036,808	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,964,553	F85I	probably damaging	Het
Rgs1	A	T	1: 144,247,933	S85T	probably damaging	Het
Samd9l	T	C	6: 3,372,725	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,279,184	A127T	probably benign	Het
Shc1	A	G	3: 89,422,969	D70G	probably damaging	Het
Slc26a1	T	A	5: 108,673,523	T167S	probably benign	Het
Slc26a7	A	T	4: 14,593,873	Y81N	probably damaging	Het
Slc2a12	T	C	10: 22,702,016		probably benign	Het
Slc30a7	T	A	3: 115,990,140		probably null	Het
Slc44a5	T	C	3: 154,265,474	S654P	probably damaging	Het
Stard9	T	G	2: 120,696,999	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,865,099	S116R	probably damaging	Het
Syvn1	C	T	19: 6,052,453	P517L	probably benign	Het
Tas2r105	T	C	6: 131,687,430	I12V	probably benign	Het
Tas2r121	A	G	6: 132,700,362	S216P	probably damaging	Het
Tcof1	T	C	18: 60,845,832	D48G	probably damaging	Het
Tgm3	C	T	2: 130,026,682		probably benign	Het
Tle2	T	C	10: 81,588,947	F667L	probably damaging	Het
Tnfaip3	C	A	10: 19,002,949	A704S	probably benign	Het
Trabd2b	A	G	4: 114,580,322	Q232R	probably benign	Het
Ttc28	T	A	5: 111,231,081	I1144N	probably damaging	Het
Ucp3	T	A	7: 100,479,541	C25*	probably null	Het
Ugt3a2	A	G	15: 9,370,150	D460G	probably damaging	Het
Urb1	T	C	16: 90,795,448	D308G	possibly damaging	Het
Ush1g	G	T	11: 115,318,868	R167S	possibly damaging	Het
Vav3	A	G	3: 109,647,679	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,471,459	D267E	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
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
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
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'- GTACAGAGCGCCATCTCTACAAGTC -3'
(R):5'- CCATTCCCCTAGTGAACTGCAAGG -3'

Sequencing Primer
(F):5'- CTCTACAAGTCTAAAGAGACAATGG -3'
(R):5'- TAACTTGAAGGGAATAGCCTCC -3'

Posted On

2013-10-16