Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01820:Dyrk1b'

154530

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dyrk1b

Ensembl Gene

ENSMUSG00000002409

Gene Name

dual-specificity tyrosine phosphorylation regulated kinase 1b

Synonyms

Mirk

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01820

Quality Score

Status

Chromosome

Chromosomal Location

27878894-27886719 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to A at 27881025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042405] [ENSMUST00000085901] [ENSMUST00000172467] [ENSMUST00000172761]

AlphaFold

Q9Z188

Predicted Effect

probably benign
Transcript: ENSMUST00000042405

SMART Domains

Protein: ENSMUSP00000037613
Gene: ENSMUSG00000046865

Domain	Start	End	E-Value	Type
low complexity region	8	85	N/A	INTRINSIC
Fibrillarin	94	321	9.92e-176	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000085901

SMART Domains

Protein: ENSMUSP00000083064
Gene: ENSMUSG00000002409

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	22	41	N/A	INTRINSIC
S_TKc	111	431	3.75e-78	SMART
low complexity region	438	454	N/A	INTRINSIC
low complexity region	460	477	N/A	INTRINSIC
low complexity region	542	561	N/A	INTRINSIC
low complexity region	571	591	N/A	INTRINSIC
low complexity region	597	615	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000172467

SMART Domains

Protein: ENSMUSP00000133431
Gene: ENSMUSG00000002409

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	22	41	N/A	INTRINSIC
S_TKc	111	431	3.75e-78	SMART
low complexity region	438	454	N/A	INTRINSIC
low complexity region	460	477	N/A	INTRINSIC
low complexity region	542	561	N/A	INTRINSIC
low complexity region	571	591	N/A	INTRINSIC
low complexity region	597	615	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172761

SMART Domains

Protein: ENSMUSP00000133719
Gene: ENSMUSG00000002409

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	22	41	N/A	INTRINSIC
S_TKc	111	391	1.52e-78	SMART
low complexity region	398	414	N/A	INTRINSIC
low complexity region	420	437	N/A	INTRINSIC
low complexity region	502	521	N/A	INTRINSIC
low complexity region	531	551	N/A	INTRINSIC
low complexity region	557	575	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208259

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,765,896 (GRCm39)		probably benign	Het
Adcy2	T	C	13: 68,886,664 (GRCm39)		probably null	Het
Akna	G	T	4: 63,304,495 (GRCm39)	T553N	probably benign	Het
Boc	A	G	16: 44,312,235 (GRCm39)	I609T	possibly damaging	Het
Btbd9	C	T	17: 30,746,383 (GRCm39)	V148I	possibly damaging	Het
Cacna1d	A	T	14: 29,764,823 (GRCm39)	I2049N	possibly damaging	Het
Cdhr1	A	T	14: 36,807,536 (GRCm39)	M368K	probably benign	Het
Cftr	A	G	6: 18,226,138 (GRCm39)	Y362C	probably damaging	Het
Cnppd1	G	T	1: 75,116,236 (GRCm39)		probably null	Het
Col3a1	T	C	1: 45,360,768 (GRCm39)	I66T	unknown	Het
Col5a2	C	A	1: 45,481,985 (GRCm39)	M46I	unknown	Het
Csmd3	G	T	15: 47,470,538 (GRCm39)	C3379*	probably null	Het
Ctla2b	T	A	13: 61,044,503 (GRCm39)	*28C	probably null	Het
Ddhd2	C	T	8: 26,239,781 (GRCm39)	E33K	possibly damaging	Het
Dock3	T	C	9: 106,773,092 (GRCm39)	H387R	probably damaging	Het
Fam131c	T	C	4: 141,107,648 (GRCm39)	C53R	probably damaging	Het
Fat1	T	A	8: 45,463,539 (GRCm39)	F1360L	probably damaging	Het
Gm10320	G	T	13: 98,626,045 (GRCm39)	S113*	probably null	Het
Ifih1	T	C	2: 62,447,657 (GRCm39)	D349G	probably damaging	Het
Il12a	T	C	3: 68,599,495 (GRCm39)		probably benign	Het
Ivl	A	T	3: 92,478,940 (GRCm39)	M375K	possibly damaging	Het
Krt82	C	A	15: 101,451,887 (GRCm39)		probably benign	Het
Mc4r	C	T	18: 66,992,226 (GRCm39)	V296I	probably benign	Het
Met	T	A	6: 17,534,230 (GRCm39)	I691N	possibly damaging	Het
Mycbp2	A	T	14: 103,425,937 (GRCm39)	I2396K	probably damaging	Het
Napg	C	A	18: 63,119,516 (GRCm39)	Q135K	probably benign	Het
Nf2	A	T	11: 4,739,655 (GRCm39)		probably null	Het
Nrxn1	G	T	17: 90,950,531 (GRCm39)	H549Q	probably damaging	Het
P4ha1	T	A	10: 59,197,736 (GRCm39)	I321K	probably damaging	Het
Prl5a1	T	C	13: 28,332,683 (GRCm39)	S94P	probably benign	Het
Prnp	T	C	2: 131,778,990 (GRCm39)	V214A	probably benign	Het
Ptprc	A	T	1: 137,993,936 (GRCm39)	F1165I	probably damaging	Het
Rdh10	T	C	1: 16,198,483 (GRCm39)	V207A	possibly damaging	Het
Rel	A	T	11: 23,703,218 (GRCm39)	N131K	probably benign	Het
Rgs14	A	T	13: 55,531,338 (GRCm39)	D448V	probably benign	Het
Spag5	T	G	11: 78,195,085 (GRCm39)	S131A	probably benign	Het
Styxl1	C	T	5: 135,794,604 (GRCm39)	D88N	probably damaging	Het
Tlr3	C	T	8: 45,851,376 (GRCm39)	R507H	probably benign	Het
Ttn	C	T	2: 76,616,670 (GRCm39)	E16528K	possibly damaging	Het
Txlnb	T	C	10: 17,682,606 (GRCm39)		probably null	Het
Unc13a	A	G	8: 72,107,591 (GRCm39)	V567A	probably damaging	Het
Vmn1r8	T	C	6: 57,013,653 (GRCm39)	S235P	possibly damaging	Het
Vmn2r51	T	A	7: 9,839,409 (GRCm39)	N60Y	probably damaging	Het
Wbp1l	T	A	19: 46,640,922 (GRCm39)	L68Q	probably damaging	Het
Wdfy3	A	T	5: 102,071,947 (GRCm39)	V981E	probably benign	Het
Zdhhc13	T	C	7: 48,458,613 (GRCm39)	S316P	probably damaging	Het
Zfp516	C	T	18: 83,005,486 (GRCm39)	R797C	probably benign	Het
Zp3r	A	G	1: 130,526,657 (GRCm39)	V182A	probably benign	Het

Other mutations in Dyrk1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Dyrk1b	APN	7	27,882,101 (GRCm39)	missense	probably damaging	0.96
IGL03155:Dyrk1b	APN	7	27,882,112 (GRCm39)	missense	probably benign	0.25
R0280:Dyrk1b	UTSW	7	27,883,737 (GRCm39)	missense	probably damaging	1.00
R0323:Dyrk1b	UTSW	7	27,884,781 (GRCm39)	missense	probably benign	0.00
R0610:Dyrk1b	UTSW	7	27,886,059 (GRCm39)	missense	probably damaging	0.99
R0765:Dyrk1b	UTSW	7	27,885,136 (GRCm39)	intron	probably benign
R1858:Dyrk1b	UTSW	7	27,882,071 (GRCm39)	splice site	probably null
R2354:Dyrk1b	UTSW	7	27,884,797 (GRCm39)	missense	possibly damaging	0.79
R4599:Dyrk1b	UTSW	7	27,881,856 (GRCm39)	missense	probably damaging	1.00
R4655:Dyrk1b	UTSW	7	27,885,176 (GRCm39)	missense	probably damaging	0.97
R5201:Dyrk1b	UTSW	7	27,884,521 (GRCm39)	missense	probably damaging	1.00
R5357:Dyrk1b	UTSW	7	27,884,743 (GRCm39)	missense	possibly damaging	0.79
R5560:Dyrk1b	UTSW	7	27,883,678 (GRCm39)	missense	possibly damaging	0.53
R6171:Dyrk1b	UTSW	7	27,885,975 (GRCm39)	critical splice acceptor site	probably null
R6751:Dyrk1b	UTSW	7	27,886,134 (GRCm39)	missense	probably damaging	1.00
R6901:Dyrk1b	UTSW	7	27,884,542 (GRCm39)	missense	probably damaging	1.00
R6918:Dyrk1b	UTSW	7	27,885,350 (GRCm39)	missense	probably damaging	0.99
R7699:Dyrk1b	UTSW	7	27,883,737 (GRCm39)	missense	probably damaging	1.00
R7700:Dyrk1b	UTSW	7	27,883,737 (GRCm39)	missense	probably damaging	1.00
R8177:Dyrk1b	UTSW	7	27,882,601 (GRCm39)	missense	possibly damaging	0.86
R8271:Dyrk1b	UTSW	7	27,882,080 (GRCm39)	missense	probably benign	0.02
R9241:Dyrk1b	UTSW	7	27,886,058 (GRCm39)	missense	probably benign	0.00
R9582:Dyrk1b	UTSW	7	27,882,028 (GRCm39)	missense	probably damaging	0.99
R9644:Dyrk1b	UTSW	7	27,881,790 (GRCm39)	missense	probably damaging	0.99
R9701:Dyrk1b	UTSW	7	27,885,838 (GRCm39)	missense	probably damaging	1.00
X0060:Dyrk1b	UTSW	7	27,882,575 (GRCm39)	missense	probably damaging	0.98

Posted On

2014-02-04