Mutagenetix > Incidental Mutation

Incidental Mutation 'R4323:Hipk3'

323904

Institutional Source

Beutler Lab

Gene Symbol

Hipk3

Ensembl Gene

ENSMUSG00000027177

Gene Name

homeodomain interacting protein kinase 3

Synonyms

DYRK6, FIST3

MMRRC Submission

041094-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4323 (G1)

Quality Score

225

Status

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

95% (59/62)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	G	4: 62,547,311	Y414C	probably damaging	Het
Akr1b3	T	C	6: 34,310,927	T166A	probably benign	Het
Ankhd1	C	T	18: 36,578,633	S94L	probably damaging	Het
B4galt3	G	T	1: 171,275,942	M68I	possibly damaging	Het
Bpnt1	A	C	1: 185,356,589	H312P	probably benign	Het
Ccdc178	T	A	18: 22,033,543	K530*	probably null	Het
Ccdc191	A	G	16: 43,947,509	E624G	probably damaging	Het
Clasp2	T	C	9: 113,889,959	V724A	possibly damaging	Het
Copa	G	T	1: 172,119,264	C1022F	probably damaging	Het
Cwf19l2	T	G	9: 3,430,452	F261L	probably damaging	Het
Esr1	G	A	10: 5,001,307	V562M	possibly damaging	Het
Fap	T	C	2: 62,503,372	H643R	probably damaging	Het
Fbxo38	T	A	18: 62,515,161	M769L	probably benign	Het
Fgfr1	A	G	8: 25,573,899	N814S	probably benign	Het
Gm15448	A	G	7: 3,822,755	S372P	possibly damaging	Het
Hspa1l	T	A	17: 34,977,856	Y290*	probably null	Het
Itsn1	G	A	16: 91,818,552		probably benign	Het
Jam2	T	C	16: 84,822,856		probably benign	Het
Kprp	G	A	3: 92,824,856	R296W	probably damaging	Het
Med23	T	C	10: 24,870,705	I14T	probably benign	Het
Mitf	A	G	6: 97,991,949	Y10C	probably benign	Het
Mpo	T	C	11: 87,796,039	S165P	probably damaging	Het
Neb	T	G	2: 52,264,110	M2330L	possibly damaging	Het
Nup214	T	C	2: 31,994,684	S486P	probably benign	Het
Olfr1392	G	A	11: 49,293,676	M118I	probably damaging	Het
Parp6	G	A	9: 59,630,686	V205I	possibly damaging	Het
Pate2	A	T	9: 35,670,471		probably benign	Het
Pdss1	T	C	2: 22,912,596		probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sept1	G	A	7: 127,217,028	P77S	probably damaging	Het
Slitrk3	A	G	3: 73,050,785	L218P	probably damaging	Het
Sltm	T	C	9: 70,580,247	I521T	probably benign	Het
Smchd1	A	G	17: 71,428,275	I618T	probably benign	Het
Sox6	A	G	7: 115,580,563		probably null	Het
Sp8	A	G	12: 118,848,436	I9V	probably benign	Het
Usp9y	T	A	Y: 1,434,407	M352L	possibly damaging	Het
Vmn1r46	T	C	6: 89,976,367	M66T	probably benign	Het
Vmn2r111	A	T	17: 22,573,178	N32K	probably benign	Het
Vmn2r63	A	G	7: 42,926,982	F469S	probably benign	Het
Vps13d	T	A	4: 145,152,778	T1486S	probably benign	Het
Wdr55	A	G	18: 36,763,100	N281S	probably benign	Het
Zswim6	G	A	13: 107,889,403		noncoding transcript	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
R4324: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'- GCTTTGACATTCATGGAGATTTTCAC -3'
(R):5'- ATGACCGAGGGTTAGGATCG -3'

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

Posted On

2015-06-24