Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03155:Dyrk1b'

411235

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 #

IGL03155

Quality Score

Status

Chromosome

Chromosomal Location

27878894-27886719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27882112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 98 (D98N)

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
AA Change: D98N

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000083064
Gene: ENSMUSG00000002409
AA Change: D98N

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: ENSMUST00000172467
AA Change: D158N

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000133431
Gene: ENSMUSG00000002409
AA Change: D158N

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
AA Change: D98N

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133719
Gene: ENSMUSG00000002409
AA Change: D98N

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	C	T	2: 131,388,001 (GRCm39)	R518H	probably benign	Het
Akr7a5	T	A	4: 139,041,837 (GRCm39)	C190*	probably null	Het
Cct2	A	T	10: 116,896,576 (GRCm39)	L209Q	probably damaging	Het
Chordc1	T	A	9: 18,215,616 (GRCm39)	S123T	possibly damaging	Het
Crtap	T	C	9: 114,209,117 (GRCm39)	D309G	possibly damaging	Het
Csf2	T	C	11: 54,138,497 (GRCm39)	T115A	possibly damaging	Het
Dgkb	T	A	12: 38,189,458 (GRCm39)	I287N	probably damaging	Het
Eif4g1	T	C	16: 20,511,167 (GRCm39)	S1550P	probably damaging	Het
Fam83e	A	G	7: 45,376,499 (GRCm39)	E404G	possibly damaging	Het
Fryl	G	A	5: 73,234,038 (GRCm39)	P1496S	probably benign	Het
Fsip1	A	T	2: 118,082,220 (GRCm39)	N71K	probably benign	Het
Gm5092	A	T	17: 21,314,970 (GRCm39)		noncoding transcript	Het
Gnb1l	T	A	16: 18,359,282 (GRCm39)		probably null	Het
Got1l1	T	C	8: 27,689,360 (GRCm39)	Y233C	probably damaging	Het
Katnbl1	T	A	2: 112,239,577 (GRCm39)		probably null	Het
Kcnn2	A	G	18: 45,818,382 (GRCm39)	E493G	probably damaging	Het
Kif26b	C	T	1: 178,701,693 (GRCm39)	R691W	probably damaging	Het
Lrp2	A	T	2: 69,285,796 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,241,861 (GRCm39)	S107P	probably damaging	Het
Mrc1	A	G	2: 14,335,912 (GRCm39)	N1433D	probably benign	Het
Mycbp2	G	A	14: 103,392,889 (GRCm39)	S3114L	probably benign	Het
Naip6	T	A	13: 100,452,932 (GRCm39)	H43L	possibly damaging	Het
Nin	A	T	12: 70,078,544 (GRCm39)	C1681S	probably damaging	Het
Nnmt	C	T	9: 48,503,352 (GRCm39)	V225M	probably damaging	Het
Or2ag1b	A	T	7: 106,288,446 (GRCm39)	M164K	probably damaging	Het
Or4c125	A	T	2: 89,170,310 (GRCm39)	M112K	probably damaging	Het
Phf21a	T	G	2: 92,150,611 (GRCm39)	V64G	probably damaging	Het
Ptprd	A	T	4: 75,984,456 (GRCm39)	S800R	possibly damaging	Het
Scarf2	C	T	16: 17,625,413 (GRCm39)	P823S	probably benign	Het
Scn5a	T	C	9: 119,341,248 (GRCm39)	T1212A	possibly damaging	Het
Slc38a10	C	T	11: 119,995,945 (GRCm39)	V1043I	probably damaging	Het
Stxbp5	A	T	10: 9,692,034 (GRCm39)	L370Q	probably null	Het
Tas1r2	T	C	4: 139,396,467 (GRCm39)	V602A	possibly damaging	Het
Tatdn1	T	C	15: 58,788,045 (GRCm39)		probably benign	Het
Tdrd6	A	T	17: 43,936,398 (GRCm39)	L1550Q	probably damaging	Het
Tet3	G	T	6: 83,345,365 (GRCm39)	R1556S	probably damaging	Het
Tnpo2	T	A	8: 85,771,709 (GRCm39)	I249N	probably benign	Het
Tnxb	G	T	17: 34,932,569 (GRCm39)	V2263F	probably damaging	Het
Trim75	C	T	8: 65,435,992 (GRCm39)	V153M	possibly damaging	Het
Ttc21a	T	A	9: 119,773,042 (GRCm39)		probably null	Het
Tuft1	T	A	3: 94,541,821 (GRCm39)	I61L	possibly damaging	Het
Usp43	T	C	11: 67,767,315 (GRCm39)	D680G	probably damaging	Het
Vac14	A	G	8: 111,362,975 (GRCm39)	I274V	possibly damaging	Het
Vmn1r222	T	A	13: 23,416,863 (GRCm39)	R117W	probably damaging	Het
Vmn1r83	T	C	7: 12,055,617 (GRCm39)	M147V	probably benign	Het
Vmn2r43	T	A	7: 8,258,068 (GRCm39)	I382L	possibly damaging	Het
Vmn2r63	C	T	7: 42,552,878 (GRCm39)	V793I	probably damaging	Het
Vopp1	A	G	6: 57,739,492 (GRCm39)	Y19H	possibly damaging	Het
Yeats2	T	C	16: 20,048,323 (GRCm39)		probably null	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
IGL01820:Dyrk1b	APN	7	27,881,025 (GRCm39)	utr 5 prime	probably benign
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

2016-08-02