Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00937:Hipk3'

26920

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 #

IGL00937

Quality Score

Status

Chromosome

Chromosomal Location

104256826-104324791 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104263517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 933 (N933D)

Ref Sequence

ENSEMBL: ENSMUSP00000106754 (fasta)

Gene Model

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

AlphaFold

Q9ERH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028600
AA Change: N912D

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028600
Gene: ENSMUSG00000027177
AA Change: N912D

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

possibly damaging
Transcript: ENSMUST00000111124
AA Change: N912D

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106753
Gene: ENSMUSG00000027177
AA Change: N912D

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

possibly damaging
Transcript: ENSMUST00000111125
AA Change: N933D

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106754
Gene: ENSMUSG00000027177
AA Change: N933D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122567

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132622

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cc2d2a	A	T	5: 43,845,464 (GRCm39)		probably null	Het
Cd34	A	G	1: 194,642,422 (GRCm39)	E381G	probably damaging	Het
Chka	A	G	19: 3,942,189 (GRCm39)	E381G	probably benign	Het
Dennd1b	T	A	1: 139,097,977 (GRCm39)	C673S	probably benign	Het
E130308A19Rik	G	A	4: 59,690,846 (GRCm39)	A227T	probably benign	Het
F13b	T	A	1: 139,445,098 (GRCm39)		probably benign	Het
Mmp27	T	C	9: 7,578,900 (GRCm39)		probably benign	Het
Nod1	C	T	6: 54,914,349 (GRCm39)	V815I	probably benign	Het
Or2a5	T	A	6: 42,873,568 (GRCm39)	F61Y	probably damaging	Het
Or2ag15	T	A	7: 106,340,364 (GRCm39)	Y259F	probably damaging	Het
Or3a1d	C	T	11: 74,238,255 (GRCm39)	V52I	probably benign	Het
Or51ab3	C	A	7: 103,201,064 (GRCm39)	A24E	probably damaging	Het
Or51h1	T	A	7: 102,308,555 (GRCm39)	S176T	probably damaging	Het
Or52k2	T	A	7: 102,253,564 (GRCm39)	M1K	probably null	Het
Pms1	T	A	1: 53,314,410 (GRCm39)	E45V	possibly damaging	Het
Prkcsh	T	C	9: 21,917,861 (GRCm39)	S126P	possibly damaging	Het
Pros1	A	T	16: 62,730,408 (GRCm39)	L299F	probably damaging	Het
Scrn1	A	G	6: 54,497,718 (GRCm39)	I291T	probably benign	Het
Slc15a2	A	T	16: 36,572,242 (GRCm39)	Y676*	probably null	Het
Tenm2	A	C	11: 35,915,450 (GRCm39)	V2028G	probably damaging	Het
Trpa1	T	C	1: 14,950,501 (GRCm39)		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
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
IGL02522:Hipk3	APN	2	104,301,676 (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

2013-04-17