Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02522:Hipk3'

296914

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 #

IGL02522

Quality Score

Status

Chromosome

Chromosomal Location

104256826-104324791 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104301676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 172 (K172R)

Ref Sequence

ENSEMBL: ENSMUSP00000106753 (fasta)

Gene Model

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

AlphaFold

Q9ERH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000028600
AA Change: K172R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028600
Gene: ENSMUSG00000027177
AA Change: K172R

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: K172R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106753
Gene: ENSMUSG00000027177
AA Change: K172R

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: K172R

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106754
Gene: ENSMUSG00000027177
AA Change: K172R

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	G	10: 78,903,633 (GRCm39)	S228P	probably benign	Het
Apba1	T	C	19: 23,889,809 (GRCm39)		probably benign	Het
Arel1	T	C	12: 84,974,684 (GRCm39)	D486G	probably damaging	Het
Celf1	T	C	2: 90,839,646 (GRCm39)	V357A	possibly damaging	Het
Chd6	T	C	2: 160,807,716 (GRCm39)	S1833G	probably benign	Het
Ctsa	T	C	2: 164,681,061 (GRCm39)		probably benign	Het
Dclk2	G	A	3: 86,827,423 (GRCm39)	P19S	probably benign	Het
Dpp10	T	C	1: 123,351,381 (GRCm39)	H308R	probably benign	Het
Dst	A	T	1: 34,289,781 (GRCm39)		probably benign	Het
Enpp2	A	T	15: 54,762,336 (GRCm39)	M201K	probably damaging	Het
Epha7	A	T	4: 28,821,494 (GRCm39)	T220S	possibly damaging	Het
Grip1	A	G	10: 119,767,154 (GRCm39)	D93G	probably damaging	Het
Hrob	T	C	11: 102,148,746 (GRCm39)	S386P	possibly damaging	Het
Iqgap3	A	G	3: 88,015,705 (GRCm39)	N29S	possibly damaging	Het
Lyst	T	C	13: 13,809,290 (GRCm39)	V320A	possibly damaging	Het
Magi1	T	C	6: 93,655,617 (GRCm39)	D1127G	possibly damaging	Het
Pkhd1l1	A	T	15: 44,419,298 (GRCm39)	D2921V	possibly damaging	Het
Pla2r1	T	A	2: 60,259,013 (GRCm39)	Y1125F	probably benign	Het
Psg20	T	A	7: 18,416,356 (GRCm39)	L253F	probably benign	Het
Rdx	A	G	9: 51,979,504 (GRCm39)	K209R	possibly damaging	Het
Rpsa	A	T	9: 119,960,121 (GRCm39)	Q228L	possibly damaging	Het
Slc10a5	T	C	3: 10,400,181 (GRCm39)	I160V	probably benign	Het
Tec	C	T	5: 72,946,515 (GRCm39)	V71I	probably benign	Het
Tln1	T	C	4: 43,540,612 (GRCm39)	E1463G	probably benign	Het
Trim12a	C	T	7: 103,950,038 (GRCm39)		probably null	Het
Vcan	G	T	13: 89,852,968 (GRCm39)	T664K	probably benign	Het

Other mutations in Hipk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00717:Hipk3	APN	2	104,260,576 (GRCm39)	missense	possibly damaging	0.52
IGL00937:Hipk3	APN	2	104,263,517 (GRCm39)	missense	possibly damaging	0.82
IGL01719:Hipk3	APN	2	104,267,434 (GRCm39)	missense	possibly damaging	0.78
IGL01802:Hipk3	APN	2	104,302,198 (GRCm39)	splice site	probably benign
IGL01932:Hipk3	APN	2	104,301,326 (GRCm39)	missense	probably damaging	1.00
IGL02089:Hipk3	APN	2	104,261,724 (GRCm39)	missense	probably damaging	1.00
IGL02525:Hipk3	APN	2	104,301,757 (GRCm39)	missense	probably damaging	1.00
IGL02959:Hipk3	APN	2	104,301,604 (GRCm39)	missense	probably damaging	1.00
IGL02986:Hipk3	APN	2	104,264,086 (GRCm39)	missense	probably damaging	1.00
R0136:Hipk3	UTSW	2	104,269,638 (GRCm39)	missense	probably benign	0.02
R0277:Hipk3	UTSW	2	104,271,593 (GRCm39)	missense	probably damaging	1.00
R0308:Hipk3	UTSW	2	104,263,552 (GRCm39)	missense	probably damaging	0.99
R0367:Hipk3	UTSW	2	104,261,594 (GRCm39)	nonsense	probably null
R0597:Hipk3	UTSW	2	104,263,982 (GRCm39)	missense	possibly damaging	0.94
R1079:Hipk3	UTSW	2	104,302,043 (GRCm39)	missense	probably benign	0.00
R1171:Hipk3	UTSW	2	104,302,021 (GRCm39)	missense	probably benign	0.02
R1244:Hipk3	UTSW	2	104,263,601 (GRCm39)	missense	probably damaging	1.00
R1509:Hipk3	UTSW	2	104,271,607 (GRCm39)	missense	probably benign	0.01
R1616:Hipk3	UTSW	2	104,264,090 (GRCm39)	nonsense	probably null
R1893:Hipk3	UTSW	2	104,263,601 (GRCm39)	missense	probably damaging	1.00
R1938:Hipk3	UTSW	2	104,260,533 (GRCm39)	missense	possibly damaging	0.89
R1969:Hipk3	UTSW	2	104,264,186 (GRCm39)	missense	probably damaging	1.00
R1975:Hipk3	UTSW	2	104,301,518 (GRCm39)	missense	probably benign	0.00
R1985:Hipk3	UTSW	2	104,264,780 (GRCm39)	missense	probably benign	0.16
R2105:Hipk3	UTSW	2	104,269,737 (GRCm39)	missense	probably damaging	0.97
R2422:Hipk3	UTSW	2	104,301,830 (GRCm39)	missense	probably benign	0.01
R3028:Hipk3	UTSW	2	104,264,135 (GRCm39)	missense	probably benign
R3747:Hipk3	UTSW	2	104,271,628 (GRCm39)	nonsense	probably null
R3923:Hipk3	UTSW	2	104,301,107 (GRCm39)	missense	probably damaging	1.00
R4320:Hipk3	UTSW	2	104,276,916 (GRCm39)	missense	probably damaging	1.00
R4321:Hipk3	UTSW	2	104,276,916 (GRCm39)	missense	probably damaging	1.00
R4322:Hipk3	UTSW	2	104,276,916 (GRCm39)	missense	probably damaging	1.00
R4323:Hipk3	UTSW	2	104,276,916 (GRCm39)	missense	probably damaging	1.00
R4324:Hipk3	UTSW	2	104,276,916 (GRCm39)	missense	probably damaging	1.00
R4595:Hipk3	UTSW	2	104,271,622 (GRCm39)	missense	probably benign	0.01
R4604:Hipk3	UTSW	2	104,269,674 (GRCm39)	missense	probably damaging	1.00
R4657:Hipk3	UTSW	2	104,264,104 (GRCm39)	missense	probably benign	0.00
R5193:Hipk3	UTSW	2	104,260,345 (GRCm39)	missense	possibly damaging	0.94
R5769:Hipk3	UTSW	2	104,265,298 (GRCm39)	missense	possibly damaging	0.69
R5843:Hipk3	UTSW	2	104,270,569 (GRCm39)	missense	possibly damaging	0.65
R5906:Hipk3	UTSW	2	104,302,153 (GRCm39)	missense	probably damaging	1.00
R5976:Hipk3	UTSW	2	104,301,529 (GRCm39)	missense	probably damaging	1.00
R5991:Hipk3	UTSW	2	104,268,328 (GRCm39)	missense	probably damaging	1.00
R6214:Hipk3	UTSW	2	104,264,086 (GRCm39)	missense	probably damaging	1.00
R6215:Hipk3	UTSW	2	104,264,086 (GRCm39)	missense	probably damaging	1.00
R6285:Hipk3	UTSW	2	104,301,770 (GRCm39)	missense	probably damaging	1.00
R6523:Hipk3	UTSW	2	104,269,753 (GRCm39)	missense	possibly damaging	0.50
R6713:Hipk3	UTSW	2	104,276,916 (GRCm39)	missense	probably damaging	1.00
R7381:Hipk3	UTSW	2	104,269,696 (GRCm39)	missense	probably damaging	0.99
R7517:Hipk3	UTSW	2	104,265,059 (GRCm39)	missense	probably benign	0.00
R8780:Hipk3	UTSW	2	104,264,179 (GRCm39)	missense	probably damaging	0.99
R8843:Hipk3	UTSW	2	104,268,242 (GRCm39)	missense	probably benign	0.21
R9186:Hipk3	UTSW	2	104,301,439 (GRCm39)	missense	probably damaging	1.00
R9187:Hipk3	UTSW	2	104,276,936 (GRCm39)	missense	probably damaging	1.00
R9374:Hipk3	UTSW	2	104,301,850 (GRCm39)	missense	probably benign
R9398:Hipk3	UTSW	2	104,263,562 (GRCm39)	missense	probably benign	0.01
R9552:Hipk3	UTSW	2	104,301,850 (GRCm39)	missense	probably benign
R9584:Hipk3	UTSW	2	104,301,910 (GRCm39)	missense	probably benign	0.01
R9641:Hipk3	UTSW	2	104,267,376 (GRCm39)	missense	probably benign
X0021:Hipk3	UTSW	2	104,271,711 (GRCm39)	critical splice acceptor site	probably null
Z1088:Hipk3	UTSW	2	104,264,974 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16