Mutagenetix > Incidental Mutation

Incidental Mutation 'R4324:Hipk3'

323944

Institutional Source

Beutler Lab

Gene Symbol

Hipk3

Ensembl Gene

ENSMUSG00000027177

Gene Name

homeodomain interacting protein kinase 3

Synonyms

DYRK6, FIST3

MMRRC Submission

041095-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104426481-104494446 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104446571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 388 (V388L)

Ref Sequence

ENSEMBL: ENSMUSP00000106754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028600] [ENSMUST00000111124] [ENSMUST00000111125]

AlphaFold

Q9ERH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000028600
AA Change: V388L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028600
Gene: ENSMUSG00000027177
AA Change: V388L

Domain	Start	End	E-Value	Type
S_TKc	197	525	1.58e-76	SMART
low complexity region	844	859	N/A	INTRINSIC
low complexity region	887	906	N/A	INTRINSIC
low complexity region	1093	1117	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111124
AA Change: V388L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106753
Gene: ENSMUSG00000027177
AA Change: V388L

Domain	Start	End	E-Value	Type
S_TKc	197	525	1.58e-76	SMART
low complexity region	844	859	N/A	INTRINSIC
low complexity region	887	906	N/A	INTRINSIC
low complexity region	1093	1117	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111125
AA Change: V388L

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

SMART Domains

Protein: ENSMUSP00000106754
Gene: ENSMUSG00000027177
AA Change: V388L

Domain	Start	End	E-Value	Type
S_TKc	197	525	1.58e-76	SMART
low complexity region	865	880	N/A	INTRINSIC
low complexity region	908	927	N/A	INTRINSIC
low complexity region	1114	1138	N/A	INTRINSIC

Meta Mutation Damage Score

0.1684

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele exhibit impaired insulin secretion and glucose tolerance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afp	A	G	5: 90,507,905	D583G	probably benign	Het
Alg9	T	G	9: 50,805,343	H22Q	probably damaging	Het
Aqp6	G	A	15: 99,601,410	M1I	probably null	Het
Arhgef10	T	A	8: 14,940,335	I270N	possibly damaging	Het
Asb13	G	T	13: 3,645,012	R160L	possibly damaging	Het
Atg10	T	A	13: 91,040,966	D75V	probably damaging	Het
Atxn7l2	A	T	3: 108,205,832	D218E	probably damaging	Het
Ccdc191	A	G	16: 43,947,509	E624G	probably damaging	Het
Cdan1	T	C	2: 120,724,979	I760M	probably damaging	Het
Cdk14	T	A	5: 5,036,532	K263*	probably null	Het
Cdk5rap2	A	T	4: 70,353,614	I287N	probably damaging	Het
Cdkn2aip	A	T	8: 47,712,173	S168R	probably benign	Het
Dnah17	C	T	11: 118,094,213	V1555M	probably benign	Het
Dsel	T	C	1: 111,861,393	T471A	probably damaging	Het
Dzank1	T	C	2: 144,488,698	E478G	possibly damaging	Het
Enc1	T	C	13: 97,245,897	F305S	probably benign	Het
Epn1	T	A	7: 5,097,211	M441K	probably benign	Het
Fbxw24	C	T	9: 109,604,945		probably null	Het
Gad1	G	A	2: 70,589,830	D353N	probably damaging	Het
Ggcx	A	G	6: 72,428,820	S545G	probably benign	Het
H2-K1	C	T	17: 34,000,040	V30M	possibly damaging	Het
Krt82	T	A	15: 101,541,747	M505L	probably benign	Het
Man2a1	A	G	17: 64,666,793	I355V	probably benign	Het
Olfr473	C	T	7: 107,933,693	P58S	probably damaging	Het
Pcbp3	G	A	10: 76,763,343	R109*	probably null	Het
Pcgf1	T	C	6: 83,079,957		probably null	Het
Plekhm2	A	T	4: 141,631,857	V533E	possibly damaging	Het
Prss3	T	G	6: 41,373,845	D237A	probably benign	Het
Rnf125	G	A	18: 20,977,760	R25K	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Shc4	T	A	2: 125,678,750	M260L	probably benign	Het
Spag6l	T	C	16: 16,787,235	Y151C	probably benign	Het
Stac3	C	T	10: 127,503,249	P76S	probably damaging	Het
Trpc7	T	C	13: 56,887,356	I255V	probably damaging	Het
Ttn	T	C	2: 76,908,579	E3872G	probably benign	Het
Uqcrfs1	A	G	13: 30,541,158	V133A	probably benign	Het
Vmn2r52	T	A	7: 10,171,013	T300S	possibly damaging	Het
Wipi1	A	T	11: 109,603,836	I57N	possibly damaging	Het

Other mutations in Hipk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00717:Hipk3	APN	2	104430231	missense	possibly damaging	0.52
IGL00937:Hipk3	APN	2	104433172	missense	possibly damaging	0.82
IGL01719:Hipk3	APN	2	104437089	missense	possibly damaging	0.78
IGL01802:Hipk3	APN	2	104471853	splice site	probably benign
IGL01932:Hipk3	APN	2	104470981	missense	probably damaging	1.00
IGL02089:Hipk3	APN	2	104431379	missense	probably damaging	1.00
IGL02522:Hipk3	APN	2	104471331	missense	probably damaging	1.00
IGL02525:Hipk3	APN	2	104471412	missense	probably damaging	1.00
IGL02959:Hipk3	APN	2	104471259	missense	probably damaging	1.00
IGL02986:Hipk3	APN	2	104433741	missense	probably damaging	1.00
R0136:Hipk3	UTSW	2	104439293	missense	probably benign	0.02
R0277:Hipk3	UTSW	2	104441248	missense	probably damaging	1.00
R0308:Hipk3	UTSW	2	104433207	missense	probably damaging	0.99
R0367:Hipk3	UTSW	2	104431249	nonsense	probably null
R0597:Hipk3	UTSW	2	104433637	missense	possibly damaging	0.94
R1079:Hipk3	UTSW	2	104471698	missense	probably benign	0.00
R1171:Hipk3	UTSW	2	104471676	missense	probably benign	0.02
R1244:Hipk3	UTSW	2	104433256	missense	probably damaging	1.00
R1509:Hipk3	UTSW	2	104441262	missense	probably benign	0.01
R1616:Hipk3	UTSW	2	104433745	nonsense	probably null
R1893:Hipk3	UTSW	2	104433256	missense	probably damaging	1.00
R1938:Hipk3	UTSW	2	104430188	missense	possibly damaging	0.89
R1969:Hipk3	UTSW	2	104433841	missense	probably damaging	1.00
R1975:Hipk3	UTSW	2	104471173	missense	probably benign	0.00
R1985:Hipk3	UTSW	2	104434435	missense	probably benign	0.16
R2105:Hipk3	UTSW	2	104439392	missense	probably damaging	0.97
R2422:Hipk3	UTSW	2	104471485	missense	probably benign	0.01
R3028:Hipk3	UTSW	2	104433790	missense	probably benign
R3747:Hipk3	UTSW	2	104441283	nonsense	probably null
R3923:Hipk3	UTSW	2	104470762	missense	probably damaging	1.00
R4320:Hipk3	UTSW	2	104446571	missense	probably damaging	1.00
R4321:Hipk3	UTSW	2	104446571	missense	probably damaging	1.00
R4322:Hipk3	UTSW	2	104446571	missense	probably damaging	1.00
R4323:Hipk3	UTSW	2	104446571	missense	probably damaging	1.00
R4595:Hipk3	UTSW	2	104441277	missense	probably benign	0.01
R4604:Hipk3	UTSW	2	104439329	missense	probably damaging	1.00
R4657:Hipk3	UTSW	2	104433759	missense	probably benign	0.00
R5193:Hipk3	UTSW	2	104430000	missense	possibly damaging	0.94
R5769:Hipk3	UTSW	2	104434953	missense	possibly damaging	0.69
R5843:Hipk3	UTSW	2	104440224	missense	possibly damaging	0.65
R5906:Hipk3	UTSW	2	104471808	missense	probably damaging	1.00
R5976:Hipk3	UTSW	2	104471184	missense	probably damaging	1.00
R5991:Hipk3	UTSW	2	104437983	missense	probably damaging	1.00
R6214:Hipk3	UTSW	2	104433741	missense	probably damaging	1.00
R6215:Hipk3	UTSW	2	104433741	missense	probably damaging	1.00
R6285:Hipk3	UTSW	2	104471425	missense	probably damaging	1.00
R6523:Hipk3	UTSW	2	104439408	missense	possibly damaging	0.50
R6713:Hipk3	UTSW	2	104446571	missense	probably damaging	1.00
R7381:Hipk3	UTSW	2	104439351	missense	probably damaging	0.99
R7517:Hipk3	UTSW	2	104434714	missense	probably benign	0.00
R8780:Hipk3	UTSW	2	104433834	missense	probably damaging	0.99
R8843:Hipk3	UTSW	2	104437897	missense	probably benign	0.21
R9186:Hipk3	UTSW	2	104471094	missense	probably damaging	1.00
R9187:Hipk3	UTSW	2	104446591	missense	probably damaging	1.00
R9374:Hipk3	UTSW	2	104471505	missense	probably benign
R9398:Hipk3	UTSW	2	104433217	missense	probably benign	0.01
R9552:Hipk3	UTSW	2	104471505	missense	probably benign
R9584:Hipk3	UTSW	2	104471565	missense	probably benign	0.01
R9641:Hipk3	UTSW	2	104437031	missense	probably benign
X0021:Hipk3	UTSW	2	104441366	critical splice acceptor site	probably null
Z1088:Hipk3	UTSW	2	104434629	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTTGACATTCATGGAGATTTTC -3'
(R):5'- TGACCGAGGGTTAGGATCG -3'

Sequencing Primer
(F):5'- CACATTTTGTGTATGGAGAATCATGC -3'
(R):5'- GTTTGACAAGTTCTCAGCGAC -3'

Posted On

2015-06-24