Mutagenetix > Incidental Mutation

Incidental Mutation 'R4724:Hipk2'

354668

Institutional Source

Beutler Lab

Gene Symbol

Hipk2

Ensembl Gene

ENSMUSG00000061436

Gene Name

homeodomain interacting protein kinase 2

Synonyms

B230339E18Rik, 1110014O20Rik, Stank

MMRRC Submission

041988-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R4724 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38671325-38853099 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38675327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1084 (T1084S)

Ref Sequence

ENSEMBL: ENSMUSP00000125500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160360] [ENSMUST00000160962] [ENSMUST00000161779] [ENSMUST00000162359]

AlphaFold

Q9QZR5

Predicted Effect

probably benign
Transcript: ENSMUST00000160360
AA Change: T1084S

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125500
Gene: ENSMUSG00000061436
AA Change: T1084S

Domain	Start	End	E-Value	Type
low complexity region	94	104	N/A	INTRINSIC
low complexity region	156	180	N/A	INTRINSIC
S_TKc	199	527	3.05e-78	SMART
low complexity region	895	909	N/A	INTRINSIC
low complexity region	963	992	N/A	INTRINSIC
low complexity region	998	1018	N/A	INTRINSIC
low complexity region	1057	1072	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160962
AA Change: T1077S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000125572
Gene: ENSMUSG00000061436
AA Change: T1077S

Domain	Start	End	E-Value	Type
low complexity region	87	97	N/A	INTRINSIC
low complexity region	149	173	N/A	INTRINSIC
S_TKc	192	520	3.05e-78	SMART
low complexity region	888	902	N/A	INTRINSIC
low complexity region	956	985	N/A	INTRINSIC
low complexity region	991	1011	N/A	INTRINSIC
low complexity region	1050	1065	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161779
AA Change: T1112S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000124133
Gene: ENSMUSG00000061436
AA Change: T1112S

Domain	Start	End	E-Value	Type
low complexity region	94	104	N/A	INTRINSIC
low complexity region	156	180	N/A	INTRINSIC
S_TKc	199	527	3.05e-78	SMART
low complexity region	923	937	N/A	INTRINSIC
low complexity region	991	1020	N/A	INTRINSIC
low complexity region	1026	1046	N/A	INTRINSIC
low complexity region	1085	1100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162359
AA Change: T1085S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000125150
Gene: ENSMUSG00000061436
AA Change: T1085S

Domain	Start	End	E-Value	Type
low complexity region	94	104	N/A	INTRINSIC
low complexity region	156	180	N/A	INTRINSIC
S_TKc	199	527	3.05e-78	SMART
low complexity region	896	910	N/A	INTRINSIC
low complexity region	964	993	N/A	INTRINSIC
low complexity region	999	1019	N/A	INTRINSIC
low complexity region	1058	1073	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting protein kinase family. The encoded protein interacts with homeodomain transcription factors and many other transcription factors such as p53, and can function as both a corepressor and a coactivator depending on the transcription factor and its subcellular localization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous null mice display decreased apoptosis and increased neuron numbers in the trigeminal ganglion. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Targeted(7) Gene trapped(3)

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	C	G	3: 89,960,848 (GRCm39)	Q34E	probably damaging	Het
4933434E20Rik	G	T	3: 89,960,890 (GRCm39)	V48F	probably damaging	Het
4933434E20Rik	A	T	3: 89,960,849 (GRCm39)	Q34L	probably damaging	Het
Abra	T	C	15: 41,729,302 (GRCm39)	D366G	probably damaging	Het
Acvr2a	T	C	2: 48,760,447 (GRCm39)	S68P	probably damaging	Het
Adam28	T	A	14: 68,864,326 (GRCm39)	R492S	probably damaging	Het
Adamts1	T	A	16: 85,599,393 (GRCm39)	E69V	probably benign	Het
Adgra1	A	T	7: 139,455,505 (GRCm39)	M378L	probably benign	Het
Adgra2	T	A	8: 27,588,850 (GRCm39)	N101K	possibly damaging	Het
Adhfe1	T	A	1: 9,646,475 (GRCm39)	F449L	probably damaging	Het
Akap6	T	A	12: 52,842,668 (GRCm39)	S5R	possibly damaging	Het
Akap9	G	A	5: 4,105,339 (GRCm39)	R2883Q	probably benign	Het
Ank3	T	A	10: 69,542,688 (GRCm39)	I16N	probably benign	Het
Api5	A	T	2: 94,253,816 (GRCm39)	F296I	possibly damaging	Het
Ceacam14	G	T	7: 17,547,975 (GRCm39)		probably null	Het
Cep295	C	T	9: 15,242,128 (GRCm39)	G1768S	probably damaging	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Cp	C	A	3: 20,026,811 (GRCm39)	T413K	probably benign	Het
Ctdsp2	T	G	10: 126,828,938 (GRCm39)	V104G	probably damaging	Het
Ctrc	T	A	4: 141,573,607 (GRCm39)		probably null	Het
Dbt	T	C	3: 116,326,945 (GRCm39)	I98T	probably damaging	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dctn1	T	A	6: 83,166,920 (GRCm39)	M257K	possibly damaging	Het
Depp1	T	A	6: 116,629,096 (GRCm39)	C146*	probably null	Het
Dlgap5	C	T	14: 47,638,977 (GRCm39)		probably null	Het
Drd3	G	T	16: 43,643,164 (GRCm39)	E467*	probably null	Het
Exoc8	A	G	8: 125,623,989 (GRCm39)	V126A	probably benign	Het
Fam185a	T	A	5: 21,660,785 (GRCm39)	S267T	probably damaging	Het
Fhod1	T	C	8: 106,064,493 (GRCm39)		probably benign	Het
Fn1	T	C	1: 71,687,307 (GRCm39)		probably null	Het
Gadl1	A	T	9: 115,783,685 (GRCm39)	T214S	possibly damaging	Het
Gem	G	T	4: 11,706,074 (GRCm39)	R54L	probably damaging	Het
Ghr	A	G	15: 3,355,422 (GRCm39)	V287A	probably benign	Het
Gm3642	G	A	14: 18,212,879 (GRCm39)	T215I	probably benign	Het
Grip1	T	A	10: 119,874,588 (GRCm39)	I732K	probably benign	Het
Gtpbp2	A	T	17: 46,478,147 (GRCm39)		probably null	Het
Heatr6	C	T	11: 83,670,374 (GRCm39)	R976*	probably null	Het
Hmcn1	T	C	1: 150,570,584 (GRCm39)		probably null	Het
Hspg2	T	A	4: 137,249,438 (GRCm39)	M1328K	probably damaging	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Ighv1-64	A	G	12: 115,471,466 (GRCm39)	V17A	probably benign	Het
Iqgap2	G	T	13: 95,772,005 (GRCm39)	N1391K	possibly damaging	Het
Irf7	A	T	7: 140,844,648 (GRCm39)	L148Q	possibly damaging	Het
Kat6b	G	A	14: 21,711,030 (GRCm39)	R768K	probably benign	Het
Lepr	G	A	4: 101,622,562 (GRCm39)	W447*	probably null	Het
Letmd1	A	G	15: 100,367,619 (GRCm39)	Y59C	probably damaging	Het
Lingo4	A	T	3: 94,310,183 (GRCm39)	K374*	probably null	Het
Loxl4	G	T	19: 42,596,785 (GRCm39)	D62E	probably benign	Het
Lrfn2	A	G	17: 49,377,462 (GRCm39)	D181G	probably damaging	Het
Lrrc71	A	T	3: 87,646,481 (GRCm39)	F526L	probably damaging	Het
Ltbp1	A	T	17: 75,620,003 (GRCm39)	M711L	probably damaging	Het
Mcm7	A	T	5: 138,167,387 (GRCm39)	D78E	probably damaging	Het
Mdh1	T	C	11: 21,512,957 (GRCm39)	N136D	probably damaging	Het
Meltf	T	A	16: 31,711,323 (GRCm39)	N515K	probably benign	Het
Mis18bp1	T	A	12: 65,205,513 (GRCm39)	T220S	probably benign	Het
Mtss1	C	T	15: 58,953,367 (GRCm39)	V4M	probably damaging	Het
Nacc2	A	T	2: 25,980,185 (GRCm39)	F84I	probably damaging	Het
Nedd9	A	G	13: 41,470,073 (GRCm39)	V360A	possibly damaging	Het
Nek11	T	A	9: 105,270,169 (GRCm39)	I18F	possibly damaging	Het
Nkd2	C	T	13: 73,995,124 (GRCm39)	V13M	probably damaging	Het
Nkx6-3	A	G	8: 23,646,285 (GRCm39)	I152V	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Oprm1	A	T	10: 6,708,656 (GRCm39)	R16*	probably null	Het
Or1e16	A	T	11: 73,285,981 (GRCm39)	I289N	probably damaging	Het
Or51b4	A	G	7: 103,530,856 (GRCm39)	V198A	probably benign	Het
Or5an1	T	C	19: 12,260,460 (GRCm39)	L16P	probably damaging	Het
Or5p69	T	A	7: 107,967,205 (GRCm39)	F169L	probably benign	Het
Or6d15	T	C	6: 116,559,898 (GRCm39)	N3S	probably damaging	Het
Or7a36	A	G	10: 78,820,356 (GRCm39)	H244R	probably damaging	Het
Ostf1	G	A	19: 18,571,231 (GRCm39)	P62L	probably damaging	Het
Pcdha2	A	T	18: 37,073,568 (GRCm39)	T400S	possibly damaging	Het
Pcdha5	A	T	18: 37,094,549 (GRCm39)	T353S	possibly damaging	Het
Pelo	A	G	13: 115,225,271 (GRCm39)	F318S	probably damaging	Het
Polr2f	T	C	15: 79,030,269 (GRCm39)	V36A	probably benign	Het
Ppan	G	A	9: 20,799,806 (GRCm39)	R41H	probably benign	Het
Ppp1r21	C	T	17: 88,863,019 (GRCm39)	R253*	probably null	Het
Prf1	T	A	10: 61,139,487 (GRCm39)	W482R	probably damaging	Het
Ralgapa2	T	C	2: 146,187,453 (GRCm39)	T1397A	possibly damaging	Het
Rev3l	T	A	10: 39,722,802 (GRCm39)	Y2598*	probably null	Het
Scaf11	G	T	15: 96,312,729 (GRCm39)	D1437E	probably benign	Het
Sec23a	C	T	12: 59,025,292 (GRCm39)	G510R	probably damaging	Het
Sel1l2	A	G	2: 140,082,847 (GRCm39)	M597T	probably damaging	Het
Slc11a2	A	T	15: 100,304,219 (GRCm39)	S160T	possibly damaging	Het
Slc18a1	A	T	8: 69,526,301 (GRCm39)	L129*	probably null	Het
Smg8	A	C	11: 86,977,047 (GRCm39)	L178R	probably benign	Het
Sp4	T	C	12: 118,225,544 (GRCm39)	T607A	probably benign	Het
Ssbp2	A	G	13: 91,836,933 (GRCm39)	D266G	possibly damaging	Het
Sstr3	A	T	15: 78,423,897 (GRCm39)	Y283*	probably null	Het
Stk32b	C	T	5: 37,612,278 (GRCm39)		probably null	Het
Svep1	T	C	4: 58,070,752 (GRCm39)	T2345A	possibly damaging	Het
Synpo2	A	G	3: 122,907,940 (GRCm39)	S459P	probably damaging	Het
Sytl2	A	G	7: 89,998,000 (GRCm39)	M1V	probably null	Het
Tas2r102	T	A	6: 132,739,520 (GRCm39)	W143R	probably damaging	Het
Thy1	T	C	9: 43,958,645 (GRCm39)	V129A	probably damaging	Het
Tlr2	A	T	3: 83,745,492 (GRCm39)	I197N	probably damaging	Het
Tmem101	A	G	11: 102,044,269 (GRCm39)	I206T	probably benign	Het
Tmem108	A	G	9: 103,376,688 (GRCm39)	S254P	possibly damaging	Het
Tmem198b	T	C	10: 128,637,350 (GRCm39)	Q263R	probably damaging	Het
Vangl1	T	C	3: 102,091,870 (GRCm39)	D72G	probably damaging	Het
Vmn1r4	T	A	6: 56,934,349 (GRCm39)	D284E	probably benign	Het
Vmn2r31	G	A	7: 7,387,757 (GRCm39)	L605F	possibly damaging	Het
Zfand4	T	C	6: 116,250,780 (GRCm39)	V70A	probably damaging	Het
Zfp54	A	G	17: 21,653,665 (GRCm39)	E53G	probably damaging	Het
Zfp541	A	T	7: 15,815,612 (GRCm39)	I805F	probably damaging	Het
Zfp976	T	C	7: 42,262,457 (GRCm39)	H460R	possibly damaging	Het

Other mutations in Hipk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Hipk2	APN	6	38,796,257 (GRCm39)	splice site	probably benign
IGL00814:Hipk2	APN	6	38,795,484 (GRCm39)	missense	probably damaging	1.00
IGL00907:Hipk2	APN	6	38,795,208 (GRCm39)	missense	probably damaging	1.00
IGL01350:Hipk2	APN	6	38,795,250 (GRCm39)	missense	probably damaging	1.00
IGL01714:Hipk2	APN	6	38,796,117 (GRCm39)	missense	probably damaging	1.00
IGL01893:Hipk2	APN	6	38,795,330 (GRCm39)	missense	probably benign	0.05
IGL02028:Hipk2	APN	6	38,795,691 (GRCm39)	missense	possibly damaging	0.67
IGL02133:Hipk2	APN	6	38,796,069 (GRCm39)	missense	probably benign
IGL02135:Hipk2	APN	6	38,795,934 (GRCm39)	missense	possibly damaging	0.90
IGL02543:Hipk2	APN	6	38,680,436 (GRCm39)	missense	possibly damaging	0.95
IGL02630:Hipk2	APN	6	38,795,456 (GRCm39)	missense	possibly damaging	0.48
IGL02896:Hipk2	APN	6	38,675,382 (GRCm39)	missense	probably damaging	1.00
IGL02900:Hipk2	APN	6	38,706,879 (GRCm39)	missense	probably damaging	0.96
IGL03345:Hipk2	APN	6	38,724,937 (GRCm39)	splice site	probably benign
R0070:Hipk2	UTSW	6	38,795,919 (GRCm39)	nonsense	probably null
R0070:Hipk2	UTSW	6	38,795,919 (GRCm39)	nonsense	probably null
R0092:Hipk2	UTSW	6	38,720,164 (GRCm39)	missense	probably damaging	0.97
R0184:Hipk2	UTSW	6	38,695,866 (GRCm39)	missense	possibly damaging	0.77
R0494:Hipk2	UTSW	6	38,706,924 (GRCm39)	missense	probably benign	0.03
R0617:Hipk2	UTSW	6	38,724,420 (GRCm39)	missense	possibly damaging	0.70
R0720:Hipk2	UTSW	6	38,675,491 (GRCm39)	missense	probably damaging	1.00
R1812:Hipk2	UTSW	6	38,675,098 (GRCm39)	missense	probably benign	0.14
R1864:Hipk2	UTSW	6	38,695,870 (GRCm39)	critical splice acceptor site	probably null
R1919:Hipk2	UTSW	6	38,795,919 (GRCm39)	nonsense	probably null
R1995:Hipk2	UTSW	6	38,692,909 (GRCm39)	missense	probably damaging	1.00
R2079:Hipk2	UTSW	6	38,795,720 (GRCm39)	missense	probably damaging	1.00
R2238:Hipk2	UTSW	6	38,706,850 (GRCm39)	splice site	probably benign
R2384:Hipk2	UTSW	6	38,795,306 (GRCm39)	missense	probably damaging	0.99
R3775:Hipk2	UTSW	6	38,720,029 (GRCm39)	missense	probably damaging	0.99
R3792:Hipk2	UTSW	6	38,675,491 (GRCm39)	missense	probably damaging	1.00
R3841:Hipk2	UTSW	6	38,795,861 (GRCm39)	missense	probably damaging	1.00
R3883:Hipk2	UTSW	6	38,676,200 (GRCm39)	missense	probably damaging	1.00
R4471:Hipk2	UTSW	6	38,713,857 (GRCm39)	intron	probably benign
R4838:Hipk2	UTSW	6	38,795,339 (GRCm39)	missense	possibly damaging	0.94
R4843:Hipk2	UTSW	6	38,796,192 (GRCm39)	missense	possibly damaging	0.94
R5040:Hipk2	UTSW	6	38,707,816 (GRCm39)	missense	possibly damaging	0.82
R5044:Hipk2	UTSW	6	38,795,814 (GRCm39)	missense	probably benign	0.06
R5320:Hipk2	UTSW	6	38,795,212 (GRCm39)	missense	probably damaging	1.00
R5409:Hipk2	UTSW	6	38,706,977 (GRCm39)	missense	probably damaging	1.00
R5682:Hipk2	UTSW	6	38,714,408 (GRCm39)	missense	possibly damaging	0.50
R5695:Hipk2	UTSW	6	38,795,810 (GRCm39)	missense	possibly damaging	0.64
R5876:Hipk2	UTSW	6	38,707,802 (GRCm39)	critical splice donor site	probably null
R6309:Hipk2	UTSW	6	38,675,446 (GRCm39)	missense	probably damaging	1.00
R6612:Hipk2	UTSW	6	38,795,808 (GRCm39)	missense	probably benign	0.04
R6815:Hipk2	UTSW	6	38,795,777 (GRCm39)	missense	probably damaging	1.00
R7104:Hipk2	UTSW	6	38,795,579 (GRCm39)	missense	probably damaging	0.98
R7124:Hipk2	UTSW	6	38,795,413 (GRCm39)	nonsense	probably null
R7238:Hipk2	UTSW	6	38,692,992 (GRCm39)	missense	probably benign	0.45
R7712:Hipk2	UTSW	6	38,680,569 (GRCm39)	missense	probably benign	0.02
R7994:Hipk2	UTSW	6	38,795,403 (GRCm39)	missense	possibly damaging	0.94
R8190:Hipk2	UTSW	6	38,795,728 (GRCm39)	missense	possibly damaging	0.88
R8388:Hipk2	UTSW	6	38,722,630 (GRCm39)	missense	probably damaging	1.00
R8796:Hipk2	UTSW	6	38,675,158 (GRCm39)	missense	probably damaging	0.99
R9041:Hipk2	UTSW	6	38,724,909 (GRCm39)	nonsense	probably null
R9388:Hipk2	UTSW	6	38,707,956 (GRCm39)	missense	probably damaging	1.00
R9480:Hipk2	UTSW	6	38,680,377 (GRCm39)	missense	probably benign	0.37
R9485:Hipk2	UTSW	6	38,680,445 (GRCm39)	missense	possibly damaging	0.94
R9562:Hipk2	UTSW	6	38,724,390 (GRCm39)	missense	probably damaging	0.99
R9565:Hipk2	UTSW	6	38,724,390 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2015-10-21