Mutagenetix > Incidental Mutation

Incidental Mutation 'R0280:Dyrk1b'

37451

Institutional Source

Beutler Lab

Gene Symbol

Dyrk1b

Ensembl Gene

ENSMUSG00000002409

Gene Name

dual-specificity tyrosine phosphorylation regulated kinase 1b

Synonyms

Mirk

MMRRC Submission

038502-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0280 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

27878894-27886719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27883737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 198 (Y198H)

Ref Sequence

ENSEMBL: ENSMUSP00000133719 (fasta)

Gene Model

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

AlphaFold

Q9Z188

Predicted Effect

probably damaging
Transcript: ENSMUST00000085901
AA Change: Y198H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083064
Gene: ENSMUSG00000002409
AA Change: Y198H

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 damaging
Transcript: ENSMUST00000172467
AA Change: Y258H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133431
Gene: ENSMUSG00000002409
AA Change: Y258H

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 damaging
Transcript: ENSMUST00000172761
AA Change: Y198H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133719
Gene: ENSMUSG00000002409
AA Change: Y198H

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

Meta Mutation Damage Score

0.8503

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adam18	C	T	8: 25,164,070 (GRCm39)	G38R	probably benign	Het
Ankrd16	T	G	2: 11,786,312 (GRCm39)	V187G	probably damaging	Het
Ccdc110	A	T	8: 46,396,487 (GRCm39)	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,508,663 (GRCm39)	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,093,172 (GRCm39)	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crocc	T	C	4: 140,755,737 (GRCm39)	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,321,616 (GRCm39)	V494E	probably damaging	Het
Drg1	A	T	11: 3,206,537 (GRCm39)		probably null	Het
Dscam	T	C	16: 96,840,206 (GRCm39)	K134E	possibly damaging	Het
Esr1	A	G	10: 4,806,951 (GRCm39)	D289G	probably benign	Het
Esr1	G	T	10: 4,889,289 (GRCm39)	V396F	probably damaging	Het
Evi5l	T	C	8: 4,243,133 (GRCm39)	V339A	probably damaging	Het
Fat4	A	T	3: 38,944,965 (GRCm39)	Q1286L	probably benign	Het
Fcsk	A	T	8: 111,621,380 (GRCm39)	V188D	probably damaging	Het
Frem1	T	C	4: 82,887,681 (GRCm39)	H1118R	probably damaging	Het
Fut9	C	T	4: 25,619,852 (GRCm39)	D321N	probably benign	Het
Gaa	T	G	11: 119,175,373 (GRCm39)	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,583,839 (GRCm39)		probably null	Het
Kidins220	A	G	12: 25,060,140 (GRCm39)	T767A	probably damaging	Het
Kif7	A	G	7: 79,348,571 (GRCm39)	S1257P	probably benign	Het
Ltn1	A	G	16: 87,194,726 (GRCm39)	L1391P	probably damaging	Het
Mast3	A	G	8: 71,236,439 (GRCm39)	Y681H	probably damaging	Het
Mast3	A	G	8: 71,240,564 (GRCm39)	V291A	possibly damaging	Het
Metrn	C	T	17: 26,014,109 (GRCm39)	R239H	probably benign	Het
Mphosph10	C	A	7: 64,026,451 (GRCm39)	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,449,857 (GRCm39)	T433I	probably benign	Het
Mtmr2	A	G	9: 13,710,545 (GRCm39)	K365E	probably damaging	Het
Nanog	A	G	6: 122,690,357 (GRCm39)	D229G	probably damaging	Het
Nkapd1	T	C	9: 50,520,679 (GRCm39)	T123A	probably damaging	Het
Npepps	T	C	11: 97,131,840 (GRCm39)	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,636,393 (GRCm39)		probably benign	Het
Odad4	A	T	11: 100,441,091 (GRCm39)	K107N	probably damaging	Het
Or4g16	T	C	2: 111,137,417 (GRCm39)	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,914,062 (GRCm39)	E357G	probably damaging	Het
Polb	A	T	8: 23,130,408 (GRCm39)	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,090,512 (GRCm39)	S74T	probably benign	Het
Raet1d	T	A	10: 22,246,782 (GRCm39)	C37S	probably damaging	Het
Reln	G	A	5: 22,432,511 (GRCm39)		probably benign	Het
Rps6kc1	T	C	1: 190,541,197 (GRCm39)	S369G	probably damaging	Het
Sgf29	A	G	7: 126,270,743 (GRCm39)	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,863,361 (GRCm39)	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,874,187 (GRCm39)	L188*	probably null	Het
Slc9a3	T	A	13: 74,307,543 (GRCm39)	I445N	probably damaging	Het
Sufu	A	T	19: 46,439,112 (GRCm39)		probably benign	Het
Tomm40	G	A	7: 19,447,676 (GRCm39)	T118I	probably damaging	Het
Ttn	C	T	2: 76,570,823 (GRCm39)	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,488,005 (GRCm39)	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 84,882,457 (GRCm39)		probably benign	Het
Vmn2r68	C	G	7: 84,882,466 (GRCm39)		probably null	Het
Vsig8	A	G	1: 172,389,105 (GRCm39)	D119G	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
IGL01820:Dyrk1b	APN	7	27,881,025 (GRCm39)	utr 5 prime	probably benign
IGL03155:Dyrk1b	APN	7	27,882,112 (GRCm39)	missense	probably benign	0.25
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

Predicted Primers

PCR Primer
(F):5'- CATGCCTTGGAAGTCCAGTGAGTTG -3'
(R):5'- CGAAGTCCACGATCTTGATGGCAC -3'

Sequencing Primer
(F):5'- TCCAGTGAGTTGGTGTAGAAAC -3'
(R):5'- CTTGATGGCACTGCGCTTG -3'

Posted On

2013-05-23