Mutagenetix > Incidental Mutation

Incidental Mutation 'R0836:Hipk1'

77886

Institutional Source

Beutler Lab

Gene Symbol

Hipk1

Ensembl Gene

ENSMUSG00000008730

Gene Name

homeodomain interacting protein kinase 1

Synonyms

1110062K04Rik, Myak

MMRRC Submission

039015-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0836 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

103647131-103698879 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103661612 bp (GRCm39)

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: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.2%

Validation Efficiency

100% (102/102)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	A	G	5: 139,349,875 (GRCm39)	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 54,031,374 (GRCm39)		noncoding transcript	Het
A930003A15Rik	T	C	16: 19,702,622 (GRCm39)		noncoding transcript	Het
Abca8a	A	T	11: 109,931,390 (GRCm39)	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,376,323 (GRCm39)	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,237,135 (GRCm39)	D92G	possibly damaging	Het
Aldh9a1	G	A	1: 167,177,824 (GRCm39)	G7D	probably benign	Het
Alg14	A	G	3: 121,092,259 (GRCm39)	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,307,772 (GRCm39)	N337S	probably damaging	Het
Apoa2	T	A	1: 171,052,948 (GRCm39)		probably benign	Het
Asphd2	A	T	5: 112,539,635 (GRCm39)	L66H	probably damaging	Het
Astl	T	C	2: 127,184,339 (GRCm39)	F21L	probably benign	Het
Bptf	C	A	11: 107,001,638 (GRCm39)		probably null	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cadps2	T	C	6: 23,328,775 (GRCm39)		probably benign	Het
Camk4	G	T	18: 33,072,507 (GRCm39)	S20I	unknown	Het
Ccdc85a	T	A	11: 28,533,296 (GRCm39)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,730,131 (GRCm39)	M336K	probably benign	Het
Cd209e	G	T	8: 3,903,205 (GRCm39)	D62E	probably benign	Het
Ceacam23	C	A	7: 17,638,906 (GRCm39)	A301E	possibly damaging	Het
Ces1f	A	T	8: 93,996,652 (GRCm39)	S214T	probably damaging	Het
Cfap43	C	A	19: 47,804,285 (GRCm39)	V304L	probably benign	Het
Col26a1	A	G	5: 136,794,154 (GRCm39)		probably null	Het
Cpa5	T	C	6: 30,623,210 (GRCm39)	S124P	probably damaging	Het
Crtc1	A	G	8: 70,845,663 (GRCm39)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 25,047,563 (GRCm39)		probably benign	Het
D17H6S53E	A	T	17: 35,346,385 (GRCm39)		probably null	Het
Dmxl1	T	C	18: 49,966,215 (GRCm39)	V20A	probably damaging	Het
Dnah11	G	A	12: 118,160,397 (GRCm39)	A111V	probably benign	Het
Dyrk2	T	C	10: 118,697,027 (GRCm39)	H77R	probably benign	Het
Epha3	A	G	16: 63,423,882 (GRCm39)		probably benign	Het
Epn2	T	C	11: 61,410,317 (GRCm39)	N611S	probably benign	Het
Erich6	A	C	3: 58,526,365 (GRCm39)		probably benign	Het
Fam217b	T	C	2: 178,062,782 (GRCm39)	S249P	probably benign	Het
Fezf1	T	C	6: 23,246,998 (GRCm39)	H278R	probably benign	Het
Fhod3	T	A	18: 25,199,275 (GRCm39)	Y649N	probably damaging	Het
Ftdc2	G	A	16: 58,455,886 (GRCm39)	S129L	probably damaging	Het
Grap	T	A	11: 61,551,065 (GRCm39)	D32E	possibly damaging	Het
Iho1	A	T	9: 108,282,000 (GRCm39)	C563S	probably benign	Het
Ilrun	A	T	17: 28,005,112 (GRCm39)	S148R	probably damaging	Het
Itga2	A	G	13: 114,993,215 (GRCm39)	V800A	probably damaging	Het
Itgae	A	T	11: 73,020,032 (GRCm39)	M845L	probably benign	Het
Itgb5	A	G	16: 33,720,953 (GRCm39)	K339R	probably damaging	Het
Itpka	T	A	2: 119,581,312 (GRCm39)	N448K	probably damaging	Het
Jak3	A	C	8: 72,136,622 (GRCm39)	N643T	probably damaging	Het
Kcnd2	T	A	6: 21,727,328 (GRCm39)	V627E	probably damaging	Het
Kcnd2	T	C	6: 21,726,238 (GRCm39)		probably benign	Het
Ktn1	A	G	14: 47,938,519 (GRCm39)		probably null	Het
Lamp1	T	A	8: 13,222,654 (GRCm39)	F279L	probably damaging	Het
Macf1	A	G	4: 123,388,675 (GRCm39)		probably null	Het
Mark2	A	G	19: 7,263,189 (GRCm39)	Y193H	probably damaging	Het
Mcrs1	T	C	15: 99,141,330 (GRCm39)		probably benign	Het
Mtnr1a	A	T	8: 45,540,974 (GRCm39)	I312F	probably benign	Het
Myom2	A	T	8: 15,182,924 (GRCm39)	K1454*	probably null	Het
Nfkbia	C	A	12: 55,537,561 (GRCm39)	A211S	probably damaging	Het
Or52ae9	T	C	7: 103,390,132 (GRCm39)	H105R	probably damaging	Het
Or56b1b	T	C	7: 108,164,205 (GRCm39)	T266A	possibly damaging	Het
Or8b1c	A	T	9: 38,384,081 (GRCm39)	I13F	probably benign	Het
Otog	C	T	7: 45,918,786 (GRCm39)	T954I	possibly damaging	Het
Phlpp2	A	G	8: 110,663,738 (GRCm39)	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,066,107 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,535,360 (GRCm39)		probably benign	Het
Pmch	A	G	10: 87,927,086 (GRCm39)	I30V	probably benign	Het
Ppat	A	C	5: 77,070,348 (GRCm39)	Y157D	probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Rab27b	T	C	18: 70,120,112 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,867,153 (GRCm39)	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,855,379 (GRCm39)	F85I	probably damaging	Het
Rbp3	T	G	14: 33,678,595 (GRCm39)	S848A	possibly damaging	Het
Rgs1	A	T	1: 144,123,671 (GRCm39)	S85T	probably damaging	Het
Rictor	A	G	15: 6,793,759 (GRCm39)		probably null	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	Het
Shc1	A	G	3: 89,330,276 (GRCm39)	D70G	probably damaging	Het
Slc22a28	T	C	19: 8,094,197 (GRCm39)	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,745,300 (GRCm39)	H78L	probably benign	Het
Slc30a7	T	A	3: 115,783,789 (GRCm39)		probably null	Het
Slc34a2	A	G	5: 53,225,049 (GRCm39)	T397A	probably benign	Het
Slc51a	T	A	16: 32,294,667 (GRCm39)	T306S	probably benign	Het
Sorcs3	G	A	19: 48,475,833 (GRCm39)	V231I	probably benign	Het
Sp100	A	T	1: 85,627,465 (GRCm39)	I86L	probably damaging	Het
Spata31e5	A	G	1: 28,816,902 (GRCm39)	S377P	possibly damaging	Het
Stard9	T	G	2: 120,527,480 (GRCm39)	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,740,843 (GRCm39)	S116R	probably damaging	Het
Tas2r105	T	C	6: 131,664,393 (GRCm39)	I12V	probably benign	Het
Tas2r121	A	G	6: 132,677,325 (GRCm39)	S216P	probably damaging	Het
Tax1bp1	C	T	6: 52,718,925 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,978,904 (GRCm39)	D48G	probably damaging	Het
Tex24	A	T	8: 27,834,748 (GRCm39)	H92L	possibly damaging	Het
Tgm3	C	T	2: 129,868,602 (GRCm39)		probably benign	Het
Thbs4	T	G	13: 92,894,546 (GRCm39)	D659A	probably damaging	Het
Tmed11	A	T	5: 108,943,175 (GRCm39)	M1K	probably null	Het
Tmpo	A	T	10: 90,997,815 (GRCm39)	C657*	probably null	Het
Unc5a	C	A	13: 55,151,746 (GRCm39)	N56K	possibly damaging	Het
Urb1	T	C	16: 90,592,336 (GRCm39)	D308G	possibly damaging	Het
Vav3	A	G	3: 109,554,995 (GRCm39)	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,691,721 (GRCm39)	D267E	probably benign	Het
Vmn2r17	A	T	5: 109,575,822 (GRCm39)	H231L	possibly damaging	Het
Wrn	A	G	8: 33,785,034 (GRCm39)	I446T	possibly damaging	Het
Zfp266	G	A	9: 20,411,095 (GRCm39)	H361Y	probably 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
IGL02603:Hipk1	APN	3	103,657,588 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- GTACAGAGCGCCATCTCTACAAGTC -3'
(R):5'- CCCATTCCCCTAGTGAACTGCAAG -3'

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

Posted On

2013-10-16