Mutagenetix > Incidental Mutation

Incidental Mutation 'R9644:Dyrk1b'

726141

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 #

R9644 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27878894-27886719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27881790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 83 (L83P)

Ref Sequence

ENSEMBL: ENSMUSP00000133431 (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 damaging
Transcript: ENSMUST00000085901
AA Change: L23P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083064
Gene: ENSMUSG00000002409
AA Change: L23P

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: L83P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133431
Gene: ENSMUSG00000002409
AA Change: L83P

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: L23P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133719
Gene: ENSMUSG00000002409
AA Change: L23P

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	C	A	4: 152,270,752 (GRCm39)	S32*	probably null	Het
Adam34	T	A	8: 44,104,766 (GRCm39)	H293L	probably damaging	Het
Adgrl3	A	G	5: 81,872,036 (GRCm39)	N910S	probably damaging	Het
Ankrd11	C	T	8: 123,617,682 (GRCm39)	A2057T	probably benign	Het
Ankrd36	A	G	11: 5,593,835 (GRCm39)	D480G	possibly damaging	Het
Aox4	T	A	1: 58,267,278 (GRCm39)	D185E	probably benign	Het
Apol8	C	A	15: 77,633,695 (GRCm39)	V294L	probably damaging	Het
Arsk	G	A	13: 76,220,227 (GRCm39)	A289V	probably damaging	Het
Atg101	A	G	15: 101,188,447 (GRCm39)	D184G	probably benign	Het
Atp10b	C	T	11: 43,042,659 (GRCm39)	T73I	probably damaging	Het
Ccn4	T	G	15: 66,784,785 (GRCm39)	C153G		Het
Ccser2	A	T	14: 36,601,150 (GRCm39)	N411K	possibly damaging	Het
Cct5	A	G	15: 31,601,845 (GRCm39)	S3P	probably benign	Het
Chn1	A	T	2: 73,490,184 (GRCm39)	I31K	probably benign	Het
Clec2e	T	A	6: 129,070,443 (GRCm39)	I193L	probably benign	Het
Crim1	G	A	17: 78,587,497 (GRCm39)	G201R	probably damaging	Het
Ctrc	A	G	4: 141,572,336 (GRCm39)	V68A	probably damaging	Het
Dennd4c	T	A	4: 86,713,363 (GRCm39)	I438N	probably damaging	Het
Dnah5	T	A	15: 28,230,650 (GRCm39)	W183R	probably damaging	Het
Dnali1	T	A	4: 124,950,402 (GRCm39)	I253F	probably damaging	Het
Emx2	T	C	19: 59,452,427 (GRCm39)	I237T	probably benign	Het
Enpp3	C	T	10: 24,685,801 (GRCm39)	R198K	probably damaging	Het
Epb41l1	C	T	2: 156,367,165 (GRCm39)	P678L	possibly damaging	Het
Epm2aip1	C	T	9: 111,102,137 (GRCm39)	T370I	probably damaging	Het
Fam184a	T	G	10: 53,573,342 (GRCm39)	Q346P	probably damaging	Het
Foxi2	A	C	7: 135,013,727 (GRCm39)	H319P	possibly damaging	Het
Gatad1	A	G	5: 3,691,442 (GRCm39)	V250A	possibly damaging	Het
Gmeb1	T	C	4: 131,959,440 (GRCm39)	I205V	probably benign	Het
Gucy2g	C	G	19: 55,219,537 (GRCm39)	V362L	probably benign	Het
Hace1	T	C	10: 45,526,001 (GRCm39)	S281P	probably benign	Het
Helz	C	A	11: 107,563,687 (GRCm39)	A1709D	unknown	Het
Igf2bp2	T	A	16: 21,902,735 (GRCm39)	N115Y	probably damaging	Het
Igkv4-86	C	T	6: 68,887,593 (GRCm39)	V49I	probably benign	Het
Kdm2b	A	T	5: 123,120,842 (GRCm39)	V101E	probably damaging	Het
Kidins220	A	G	12: 25,061,018 (GRCm39)	D790G	probably damaging	Het
Kif18a	A	G	2: 109,171,517 (GRCm39)	T865A	probably benign	Het
Kif1b	A	G	4: 149,375,836 (GRCm39)	V10A	probably damaging	Het
Kmt2d	A	T	15: 98,743,385 (GRCm39)	M3925K	unknown	Het
Mcee	G	T	7: 64,061,730 (GRCm39)	A178S	possibly damaging	Het
Megf10	A	T	18: 57,375,773 (GRCm39)	H233L	probably benign	Het
Meox1	T	A	11: 101,769,482 (GRCm39)	E238V	probably benign	Het
Myo5a	G	A	9: 75,043,631 (GRCm39)	G207R	probably damaging	Het
Nemf	T	A	12: 69,359,436 (GRCm39)	N966I	possibly damaging	Het
Or10q3	T	C	19: 11,848,574 (GRCm39)	E2G	probably benign	Het
Or1j14	A	T	2: 36,417,777 (GRCm39)	M118L	probably damaging	Het
Or5b123	G	T	19: 13,597,344 (GRCm39)	A230S	probably benign	Het
Or6c204	A	G	10: 129,022,738 (GRCm39)	I184T	possibly damaging	Het
Pfas	T	C	11: 68,883,542 (GRCm39)	Q662R	probably benign	Het
Phf2	G	T	13: 49,024,218 (GRCm39)	C8*	probably null	Het
Pkhd1	T	A	1: 20,617,690 (GRCm39)	N965I	probably benign	Het
Plxnd1	C	T	6: 115,940,274 (GRCm39)	R1370Q	possibly damaging	Het
Prb1b	T	A	6: 132,289,218 (GRCm39)	Q202L	unknown	Het
Prdm8	A	T	5: 98,333,638 (GRCm39)	T402S	probably benign	Het
Proz	T	A	8: 13,116,854 (GRCm39)	D135E	probably benign	Het
Prtg	T	A	9: 72,813,493 (GRCm39)	I951K	probably damaging	Het
Rasgef1b	A	T	5: 99,380,014 (GRCm39)	Y288*	probably null	Het
Sacs	T	A	14: 61,443,428 (GRCm39)	C1825S	probably benign	Het
Slc22a12	G	C	19: 6,587,673 (GRCm39)	P427R	probably damaging	Het
Slfn3	A	G	11: 83,105,728 (GRCm39)	Y575C	probably damaging	Het
St18	C	T	1: 6,929,276 (GRCm39)	T56I		Het
Synrg	T	C	11: 83,910,696 (GRCm39)	L876S	probably damaging	Het
Tchh	T	C	3: 93,354,666 (GRCm39)	C1369R	unknown	Het
Tet2	G	A	3: 133,193,064 (GRCm39)	Q457*	probably null	Het
Thap12	T	C	7: 98,364,495 (GRCm39)	V221A	probably damaging	Het
Tor3a	T	A	1: 156,501,126 (GRCm39)	D104V	probably damaging	Het
Trpc2	T	C	7: 101,744,439 (GRCm39)	V737A	possibly damaging	Het
Trpc4	A	G	3: 54,129,699 (GRCm39)	Y155C	probably damaging	Het
Tspyl1	T	C	10: 34,159,135 (GRCm39)	S287P	possibly damaging	Het
Ube2u	TAGAAGAAGAAGAAGAAGAAGAAGAAGA	TAGAAGAAGAAGAAGAAGAAGAAGA	4: 100,406,943 (GRCm39)		probably benign	Het
Ubr2	A	G	17: 47,266,706 (GRCm39)		probably null	Het
Vmn1r238	T	A	18: 3,122,635 (GRCm39)	T260S	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
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
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'- GTCTCAGGTGCAAAGATTCAGG -3'
(R):5'- AAGCCAGGACCCTTTGCAAC -3'

Sequencing Primer
(F):5'- GGCCAGAGGTAAATCACTCATTTC -3'
(R):5'- TTTGCAACACCCAACCAGG -3'

Posted On

2022-09-12