Mutagenetix > Incidental Mutations

Incidental Mutation 'R0597:Hipk3'

55096

Institutional Source

Beutler Lab

Gene Symbol

Hipk3

Ensembl Gene

ENSMUSG00000027177

Gene Name

homeodomain interacting protein kinase 3

Synonyms

DYRK6, FIST3

MMRRC Submission

038786-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0597 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

104426481-104494446 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104433637 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 839 (S839P)

Ref Sequence

ENSEMBL: ENSMUSP00000106753 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028600
AA Change: S839P

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028600
Gene: ENSMUSG00000027177
AA Change: S839P

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: S839P

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106753
Gene: ENSMUSG00000027177
AA Change: S839P

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: S860P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106754
Gene: ENSMUSG00000027177
AA Change: S860P

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

Meta Mutation Damage Score

0.0646

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.4%
20x: 94.1%

Validation Efficiency

97% (71/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,525,062		probably null	Het
Anxa11	T	C	14: 25,874,228	I221T	probably damaging	Het
Arhgap33	C	G	7: 30,526,446	R565P	probably damaging	Het
Bmpr2	T	C	1: 59,841,425		probably benign	Het
Btn2a2	T	A	13: 23,486,410	H51L	probably benign	Het
Casz1	T	C	4: 148,944,394	S1099P	probably benign	Het
Cnot4	A	G	6: 35,051,503	S393P	possibly damaging	Het
Cntnap5a	T	C	1: 116,184,461		probably benign	Het
Cobl	T	C	11: 12,254,699	T586A	probably benign	Het
Crocc	A	G	4: 141,017,071	L1838P	probably benign	Het
Crocc	T	C	4: 141,019,913	K1528R	probably benign	Het
Dact2	A	G	17: 14,197,041	V299A	probably benign	Het
Dapk1	C	A	13: 60,761,384	N1270K	probably benign	Het
Ddx41	T	C	13: 55,533,006	Y375C	probably damaging	Het
Dock5	T	A	14: 67,784,934		probably null	Het
Dyrk4	T	G	6: 126,886,649		probably null	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Fam210b	A	G	2: 172,345,853		probably benign	Het
Fbxl13	A	G	5: 21,614,714	I229T	probably benign	Het
Fbxo39	A	G	11: 72,316,921	D33G	probably damaging	Het
Fbxw11	A	G	11: 32,720,496	E120G	probably damaging	Het
Fbxw2	A	T	2: 34,811,020	L261Q	probably damaging	Het
Gm13084	G	T	4: 143,812,652	N90K	probably damaging	Het
Gm5800	A	C	14: 51,716,004	N51K	probably benign	Het
Gm6899	A	G	11: 26,593,768		probably benign	Het
Gm9745	C	A	13: 8,940,766		probably benign	Het
Gpx8	T	C	13: 113,045,501	T133A	possibly damaging	Het
Grin3a	C	T	4: 49,665,351	V1095M	probably damaging	Het
Grip2	T	C	6: 91,796,197		probably benign	Het
Hacd4	A	G	4: 88,437,520	F43L	probably damaging	Het
Hif1a	T	G	12: 73,942,275	S645R	probably benign	Het
Il16	A	T	7: 83,677,975		probably benign	Het
Il3ra	T	A	14: 14,351,166		probably null	Het
Il5ra	A	G	6: 106,744,335	M1T	probably null	Het
Klra2	G	A	6: 131,220,185	R251C	probably benign	Het
Lamc2	C	T	1: 153,133,621	V813M	probably benign	Het
Lbr	A	G	1: 181,832,213	V139A	probably benign	Het
Lrp5	T	C	19: 3,600,777	D1219G	possibly damaging	Het
Map3k6	C	T	4: 133,245,552	P341S	possibly damaging	Het
Mcts2	A	G	2: 152,687,689	E140G	probably benign	Het
Med1	T	C	11: 98,169,438	M222V	probably benign	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Muc19	A	T	15: 91,900,502		noncoding transcript	Het
Nr1h2	A	G	7: 44,552,260		probably benign	Het
Olfr1361	C	A	13: 21,659,146	R59L	probably damaging	Het
Olfr205	A	T	16: 59,328,760	F250I	probably damaging	Het
Olfr682-ps1	A	G	7: 105,128,218	V73A	possibly damaging	Het
Olfr71	A	T	4: 43,706,592		probably null	Het
P4hb	G	A	11: 120,568,244	T141I	possibly damaging	Het
Polr3a	A	G	14: 24,484,134	V101A	probably benign	Het
Pou4f2	A	G	8: 78,435,240	S245P	probably benign	Het
Rnpep	A	G	1: 135,272,419	V266A	probably damaging	Het
Scly	G	A	1: 91,309,833	G206R	probably damaging	Het
Sec14l3	A	T	11: 4,074,814	K254N	probably damaging	Het
Sgpp1	A	T	12: 75,735,100	I155N	probably damaging	Het
Slc22a14	A	G	9: 119,172,124	L468P	probably damaging	Het
Slc22a27	A	G	19: 7,865,884	F377L	probably benign	Het
Slc44a3	T	C	3: 121,460,070	I625V	probably benign	Het
Slc47a2	A	T	11: 61,309,976	I373N	probably damaging	Het
Slfn10-ps	A	T	11: 83,035,653		noncoding transcript	Het
Smarcd1	T	A	15: 99,711,094	I383N	probably damaging	Het
Sort1	A	G	3: 108,338,910	D401G	probably damaging	Het
Sprr2a3	G	T	3: 92,288,590	M1I	probably null	Het
Sycp2	A	C	2: 178,356,580	V1049G	possibly damaging	Het
Tecrl	T	A	5: 83,354,928	K10*	probably null	Het
Tnpo3	A	T	6: 29,578,565	C303*	probably null	Het
Vmn2r23	A	G	6: 123,729,721	I503M	probably benign	Het
Zbtb8os	T	A	4: 129,346,877	I164N	probably damaging	Het
Zfp292	T	C	4: 34,807,399	N1882D	probably benign	Het
Zfp91	T	C	19: 12,770,095	I555V	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
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
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'- GTTCAGAATCAGCTACTCCCAGCC -3'
(R):5'- GCAGACTACAGCAGTGTTCCAGAG -3'

Sequencing Primer
(F):5'- AAGGCTACAATTATATCTACTCCAGG -3'
(R):5'- AGTGTTCCAGAGAGCACATTC -3'

Posted On

2013-07-11