Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02959:Hipk3'

365264

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hipk3

Ensembl Gene

ENSMUSG00000027177

Gene Name

homeodomain interacting protein kinase 3

Synonyms

DYRK6, FIST3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02959

Quality Score

Status

Chromosome

Chromosomal Location

104426481-104494446 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104471259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 196 (T196M)

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: T196M

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

SMART Domains

Protein: ENSMUSP00000028600
Gene: ENSMUSG00000027177
AA Change: T196M

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: T196M

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

SMART Domains

Protein: ENSMUSP00000106753
Gene: ENSMUSG00000027177
AA Change: T196M

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: T196M

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

SMART Domains

Protein: ENSMUSP00000106754
Gene: ENSMUSG00000027177
AA Change: T196M

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

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,567,060	A506D	probably benign	Het
Agap1	G	T	1: 89,843,191	V635L	possibly damaging	Het
Akr1c12	T	C	13: 4,279,332	K9E	probably benign	Het
Alms1	T	A	6: 85,629,052	Y2561*	probably null	Het
Atm	T	C	9: 53,471,418	H1957R	probably damaging	Het
Bcr	T	C	10: 75,160,390	F922S	probably benign	Het
Cfap44	T	A	16: 44,470,867		probably benign	Het
Chil5	A	G	3: 106,019,590	V243A	probably damaging	Het
Csmd1	A	G	8: 15,910,465	C3317R	probably damaging	Het
Dsc1	T	C	18: 20,108,885	K133R	probably damaging	Het
Ecm1	T	A	3: 95,737,677	Q136L	probably damaging	Het
Fscn3	C	A	6: 28,435,998	A431E	possibly damaging	Het
Gas7	C	T	11: 67,674,235		probably benign	Het
Gbx2	A	G	1: 89,928,795	V291A	probably damaging	Het
Il20ra	T	A	10: 19,759,041	N343K	probably benign	Het
Il24	C	T	1: 130,885,733	W42*	probably null	Het
Kif13b	A	T	14: 64,767,717	I1153F	probably damaging	Het
Krt2	A	T	15: 101,811,328	S636T	unknown	Het
Olfr1302	T	A	2: 111,780,610	C97S	probably damaging	Het
Olfr215	A	T	6: 116,582,544	M134K	probably damaging	Het
Olfr293	T	C	7: 86,664,529	F289S	probably damaging	Het
Olfr539	C	T	7: 140,667,550	P81S	probably damaging	Het
Olfr739	A	T	14: 50,424,932	M138L	possibly damaging	Het
Osmr	T	C	15: 6,815,897	D796G	possibly damaging	Het
Peli2	A	T	14: 48,240,297	T99S	probably benign	Het
Pi4k2a	A	T	19: 42,113,071	K317N	probably benign	Het
Pik3r1	T	G	13: 101,757,529	D44A	probably benign	Het
Pkhd1	G	T	1: 20,608,416	S96*	probably null	Het
Plekha5	A	G	6: 140,544,178	E9G	probably damaging	Het
Plekha8	T	C	6: 54,615,269	F71S	probably damaging	Het
Polq	G	T	16: 37,086,566	L2296F	probably damaging	Het
Rbm5	G	A	9: 107,754,185		probably benign	Het
Rc3h2	T	C	2: 37,405,354	K217E	probably damaging	Het
Scrib	A	G	15: 76,065,207	L350P	probably damaging	Het
Slc4a10	T	A	2: 62,268,143	S540R	probably damaging	Het
Smc3	G	T	19: 53,623,557	V354L	probably benign	Het
Smurf1	T	A	5: 144,899,389	I105F	probably damaging	Het
Stx7	G	T	10: 24,155,349	R17L	probably benign	Het
Tbca	C	T	13: 94,842,695	R74C	probably benign	Het
Tmem92	T	C	11: 94,778,678	Q153R	possibly damaging	Het
Trim41	C	A	11: 48,807,480	G553V	probably damaging	Het
Trim75	A	T	8: 64,982,765	N344K	possibly damaging	Het
Tsr1	A	G	11: 74,900,249	D218G	probably benign	Het
Ubr2	A	C	17: 46,975,951	V474G	probably damaging	Het
Unc45a	T	G	7: 80,332,973		probably benign	Het
Zfp609	C	T	9: 65,703,393	A763T	probably benign	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
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
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

Posted On

2015-12-18