Mutagenetix > Incidental Mutation

Incidental Mutation 'R9701:Dyrk1b'

729569

Institutional Source

Beutler Lab

Gene Symbol

Dyrk1b

Ensembl Gene

ENSMUSG00000002409

Gene Name

dual-specificity tyrosine phosphorylation regulated kinase 1b

Synonyms

Mirk

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27878894-27886719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27885838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 548 (R548Q)

Ref Sequence

ENSEMBL: ENSMUSP00000133431 (fasta)

Gene Model

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

AlphaFold

Q9Z188

Predicted Effect

probably damaging
Transcript: ENSMUST00000085901
AA Change: R488Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000083064
Gene: ENSMUSG00000002409
AA Change: R488Q

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: R548Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133431
Gene: ENSMUSG00000002409
AA Change: R548Q

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: R448Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133719
Gene: ENSMUSG00000002409
AA Change: R448Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,786,054 (GRCm39)	D673G	probably benign	Het
Alg8	T	A	7: 97,027,486 (GRCm39)	V118E	possibly damaging	Het
Ap4e1	T	C	2: 126,875,563 (GRCm39)	V218A	probably benign	Het
Armc12	A	T	17: 28,751,375 (GRCm39)	D123V	probably damaging	Het
Bltp3b	G	A	10: 89,615,755 (GRCm39)	V133I	probably benign	Het
Bms1	T	A	6: 118,368,147 (GRCm39)	K1039I	probably damaging	Het
Col4a2	A	G	8: 11,493,104 (GRCm39)	N1299S	probably benign	Het
Cux1	T	C	5: 136,343,169 (GRCm39)	D405G	probably damaging	Het
Cwf19l2	A	T	9: 3,430,454 (GRCm39)	Q262L	probably damaging	Het
Dclk3	A	G	9: 111,298,244 (GRCm39)	D596G	probably damaging	Het
Dnah7a	A	T	1: 53,561,388 (GRCm39)	C2090S	probably benign	Het
Dock7	T	C	4: 98,846,384 (GRCm39)	D1749G	unknown	Het
Dock9	A	T	14: 121,876,983 (GRCm39)	C463S	probably benign	Het
Egr1	T	C	18: 34,995,674 (GRCm39)	F152S	probably damaging	Het
Eln	C	A	5: 134,744,559 (GRCm39)	A479S	unknown	Het
Gm973	T	A	1: 59,566,032 (GRCm39)	W84R	possibly damaging	Het
Gnpat	A	G	8: 125,613,678 (GRCm39)	K642E	probably benign	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Gpx6	A	T	13: 21,501,777 (GRCm39)	Q133L	probably benign	Het
Gzmn	T	C	14: 56,405,310 (GRCm39)	Y58C	probably benign	Het
Hcfc2	G	T	10: 82,574,269 (GRCm39)	G148*	probably null	Het
Hspa5	C	T	2: 34,664,649 (GRCm39)	R368*	probably null	Het
Igkv3-10	T	C	6: 70,550,001 (GRCm39)	V49A	probably damaging	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Jmjd1c	A	T	10: 67,060,745 (GRCm39)	I852F	possibly damaging	Het
Lhx5	T	A	5: 120,572,663 (GRCm39)	V94E	possibly damaging	Het
Map1s	C	T	8: 71,369,712 (GRCm39)	T928I	possibly damaging	Het
Mib1	T	A	18: 10,798,494 (GRCm39)	L785H	probably damaging	Het
Mrgpra6	C	T	7: 46,835,533 (GRCm39)	R296K	probably benign	Het
Mrpl9	A	G	3: 94,351,892 (GRCm39)		probably null	Het
Mutyh	A	G	4: 116,676,485 (GRCm39)	S486G	probably benign	Het
Naa15	T	A	3: 51,349,370 (GRCm39)	Y96*	probably null	Het
Nlrp1a	T	C	11: 70,987,946 (GRCm39)	S1175G	probably benign	Het
Nup153	A	T	13: 46,840,211 (GRCm39)	D1132E	probably benign	Het
Nxf1	G	A	19: 8,739,772 (GRCm39)	G42D	probably damaging	Het
Or13j1	C	A	4: 43,705,793 (GRCm39)	M258I	probably benign	Het
Plekhg6	C	T	6: 125,347,602 (GRCm39)	V451I	probably benign	Het
Prkab1	T	C	5: 116,162,274 (GRCm39)	E12G	probably benign	Het
Ptprd	A	G	4: 75,916,896 (GRCm39)	Y752H	probably damaging	Het
Rbm12	A	G	2: 155,938,166 (GRCm39)	I702T	probably benign	Het
Rnf212	A	G	5: 108,922,738 (GRCm39)		probably null	Het
Sall3	C	A	18: 81,017,443 (GRCm39)	A162S	probably benign	Het
Sec24d	T	C	3: 123,063,321 (GRCm39)	S13P	probably damaging	Het
Serpina16	T	C	12: 103,638,873 (GRCm39)	Q238R	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skint3	T	A	4: 112,111,094 (GRCm39)	V73E	probably damaging	Het
Slc6a20a	T	A	9: 123,489,585 (GRCm39)	T153S	probably damaging	Het
Slc6a6	T	C	6: 91,700,478 (GRCm39)	Y69H	probably damaging	Het
Sorl1	A	G	9: 42,003,766 (GRCm39)	Y177H	probably damaging	Het
Srbd1	T	C	17: 86,433,559 (GRCm39)	Y346C	probably damaging	Het
Syne2	A	G	12: 76,037,197 (GRCm39)	E3792G	probably damaging	Het
Tg	C	G	15: 66,637,991 (GRCm39)	T2268S	probably benign	Het
Thbs1	A	G	2: 117,950,716 (GRCm39)	N721S	probably benign	Het
Treh	A	G	9: 44,594,648 (GRCm39)	Y275C	probably damaging	Het
Trpv5	G	T	6: 41,651,594 (GRCm39)	H195N	possibly damaging	Het
Tshz1	A	G	18: 84,032,579 (GRCm39)	S610P	possibly damaging	Het
Ttll4	A	G	1: 74,720,482 (GRCm39)	N499S	probably benign	Het
Ttn	G	T	2: 76,748,927 (GRCm39)	H4041N	probably benign	Het
Ubtf	A	G	11: 102,199,718 (GRCm39)		probably null	Het
Urod	C	T	4: 116,849,778 (GRCm39)	V207M	probably damaging	Het
Vegfa	G	A	17: 46,342,713 (GRCm39)	P35L	probably damaging	Het
Zc3h7b	C	T	15: 81,676,505 (GRCm39)	P749L	probably damaging	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
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
X0060:Dyrk1b	UTSW	7	27,882,575 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTCGGTCCCTAGATCTGAC -3'
(R):5'- TGTCTTGTGGGGCACATCAC -3'

Sequencing Primer
(F):5'- GACCCTAGATTTCAAACTTGGGCTG -3'
(R):5'- GGGCACATCACCCCCTG -3'

Posted On

2022-10-06