Mutagenetix > Incidental Mutation

Incidental Mutation 'R2107:Dyrk1a'

232208

Institutional Source

Beutler Lab

Gene Symbol

Dyrk1a

Ensembl Gene

ENSMUSG00000022897

Gene Name

dual-specificity tyrosine phosphorylation regulated kinase 1a

Synonyms

2310043O08Rik, Dyrk, D16Ertd272e, D16Ertd493e, Mnbh

MMRRC Submission

040111-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2107 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94370869-94496376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94487386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 532 (T532M)

Ref Sequence

ENSEMBL: ENSMUSP00000113660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023614] [ENSMUST00000119878] [ENSMUST00000122284]

AlphaFold

Q61214

Predicted Effect

probably damaging
Transcript: ENSMUST00000023614
AA Change: T532M

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

SMART Domains

Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897
AA Change: T532M

Domain	Start	End	E-Value	Type
low complexity region	136	147	N/A	INTRINSIC
S_TKc	159	479	6.63e-79	SMART
low complexity region	502	525	N/A	INTRINSIC
low complexity region	599	620	N/A	INTRINSIC
low complexity region	650	672	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119878
AA Change: T532M

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

SMART Domains

Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897
AA Change: T532M

Domain	Start	End	E-Value	Type
low complexity region	136	147	N/A	INTRINSIC
S_TKc	159	479	6.63e-79	SMART
low complexity region	502	525	N/A	INTRINSIC
low complexity region	599	620	N/A	INTRINSIC
low complexity region	650	672	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000122284
AA Change: T494M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897
AA Change: T494M

Domain	Start	End	E-Value	Type
low complexity region	127	138	N/A	INTRINSIC
S_TKc	150	470	6.63e-79	SMART
low complexity region	493	516	N/A	INTRINSIC
low complexity region	590	611	N/A	INTRINSIC
low complexity region	641	663	N/A	INTRINSIC

Meta Mutation Damage Score

0.1447

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted deletion present a general embryonic growth delay and die during midgestation. Heterozygotes display reduced postnatal survival, postnatal growth retardation, microcephaly, behavioral and motor deficits, and altered neocortical pyramidal cell morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,685,744 (GRCm39)	L364Q	probably damaging	Het
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Ace2	A	G	X: 162,923,728 (GRCm39)	N24S	probably benign	Het
Acp2	G	A	2: 91,033,940 (GRCm39)		probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Bcas3	G	A	11: 85,348,704 (GRCm39)	V199I	probably damaging	Het
Cblb	T	A	16: 51,973,079 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,887,808 (GRCm39)	D1557E	probably benign	Het
Cdc20	T	C	4: 118,290,710 (GRCm39)	Y430C	probably damaging	Het
Cdk5rap1	C	T	2: 154,195,166 (GRCm39)	D350N	probably benign	Het
Cgrrf1	T	A	14: 47,090,833 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,036,156 (GRCm39)	Y185*	probably null	Het
Cmtm8	A	T	9: 114,625,176 (GRCm39)	V85D	possibly damaging	Het
Cplx4	A	G	18: 66,089,964 (GRCm39)	S152P	probably benign	Het
Crmp1	G	T	5: 37,399,838 (GRCm39)	R117L	probably benign	Het
Csad	G	C	15: 102,087,469 (GRCm39)	L365V	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fan1	T	G	7: 64,016,536 (GRCm39)	R529S	probably damaging	Het
Fbln5	A	G	12: 101,737,528 (GRCm39)	W173R	probably damaging	Het
Gm9611	A	T	14: 42,116,611 (GRCm39)	N42K	possibly damaging	Het
Gnal	T	A	18: 67,346,649 (GRCm39)	L257Q	probably damaging	Het
Hint3	A	T	10: 30,494,252 (GRCm39)	F33I	probably damaging	Het
Ipcef1	A	G	10: 6,840,501 (GRCm39)	S403P	probably benign	Het
Kmt2c	T	C	5: 25,514,822 (GRCm39)	N3007S	probably benign	Het
Kpna3	T	C	14: 61,607,933 (GRCm39)	D424G	possibly damaging	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Lamc2	A	G	1: 153,030,132 (GRCm39)		probably benign	Het
Lmtk3	G	T	7: 45,443,393 (GRCm39)	C692F	possibly damaging	Het
Lrguk	T	C	6: 34,039,296 (GRCm39)	M269T	probably benign	Het
Lrrc19	T	A	4: 94,527,531 (GRCm39)	T227S	probably benign	Het
Lrrk1	C	A	7: 65,929,030 (GRCm39)	D1201Y	probably damaging	Het
Matn2	T	A	15: 34,423,905 (GRCm39)	Y588N	probably damaging	Het
Mmp1b	A	G	9: 7,369,310 (GRCm39)	W346R	probably damaging	Het
Mpo	T	C	11: 87,686,901 (GRCm39)	Y177H	probably damaging	Het
Mprip	A	G	11: 59,660,717 (GRCm39)	K2166R	probably damaging	Het
Myo15a	T	C	11: 60,382,636 (GRCm39)	Y1544H	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nedd9	A	T	13: 41,492,455 (GRCm39)	C12*	probably null	Het
Neu1	G	A	17: 35,153,374 (GRCm39)	R299Q	probably benign	Het
Nisch	C	T	14: 30,894,097 (GRCm39)	V172I	probably damaging	Het
Npy2r	A	T	3: 82,448,436 (GRCm39)		probably null	Het
Ogg1	C	A	6: 113,306,254 (GRCm39)	N150K	probably damaging	Het
Or1j4	C	A	2: 36,740,355 (GRCm39)	A99E	possibly damaging	Het
Or1p1	T	C	11: 74,180,216 (GRCm39)	V248A	probably damaging	Het
Or6c219	A	G	10: 129,781,581 (GRCm39)	S2P	probably damaging	Het
Pck1	G	C	2: 172,995,861 (GRCm39)	E120Q	probably benign	Het
Pde11a	A	G	2: 76,168,266 (GRCm39)	V229A	probably damaging	Het
Pias2	T	C	18: 77,185,167 (GRCm39)	F83L	probably benign	Het
Plagl1	A	C	10: 13,004,391 (GRCm39)		probably benign	Het
Plin3	A	T	17: 56,591,391 (GRCm39)	S130T	probably benign	Het
Rcc2	A	G	4: 140,448,496 (GRCm39)	Y515C	probably damaging	Het
Rgs12	A	G	5: 35,124,079 (GRCm39)	K621E	possibly damaging	Het
Rnf6	G	A	5: 146,148,091 (GRCm39)	T309I	probably damaging	Het
Rpusd3	G	T	6: 113,392,523 (GRCm39)	T335N	probably damaging	Het
Scn8a	A	T	15: 100,916,244 (GRCm39)	I1218F	probably damaging	Het
Slc23a1	T	A	18: 35,758,879 (GRCm39)	Q104L	possibly damaging	Het
Slc34a3	A	T	2: 25,120,999 (GRCm39)	V363D	probably damaging	Het
Smap1	A	T	1: 23,887,535 (GRCm39)	M248K	possibly damaging	Het
Sp1	A	G	15: 102,318,113 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,183,744 (GRCm39)		probably null	Het
Tbc1d1	T	G	5: 64,442,048 (GRCm39)	N689K	probably benign	Het
Tff2	T	C	17: 31,361,256 (GRCm39)	E99G	possibly damaging	Het
Tjp3	T	C	10: 81,116,378 (GRCm39)	N239D	possibly damaging	Het
Trim37	G	A	11: 87,050,651 (GRCm39)	R230Q	probably benign	Het
Ubr5	A	G	15: 37,989,546 (GRCm39)	M2090T	probably benign	Het
Unc13a	T	C	8: 72,108,895 (GRCm39)		probably null	Het
Usp43	GC	G	11: 67,746,566 (GRCm39)		probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vav2	T	C	2: 27,157,315 (GRCm39)	E829G	probably damaging	Het
Vps35l	T	C	7: 118,393,762 (GRCm39)		probably benign	Het
Zfp26	A	T	9: 20,353,533 (GRCm39)	D85E	probably benign	Het
Zfp292	A	T	4: 34,808,593 (GRCm39)	F1484I	possibly damaging	Het

Other mutations in Dyrk1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Dyrk1a	APN	16	94,485,943 (GRCm39)	missense	probably benign	0.21
IGL01599:Dyrk1a	APN	16	94,492,743 (GRCm39)	missense	possibly damaging	0.94
IGL01809:Dyrk1a	APN	16	94,460,476 (GRCm39)	missense	probably benign	0.00
IGL02201:Dyrk1a	APN	16	94,493,008 (GRCm39)	missense	probably benign	0.05
IGL02345:Dyrk1a	APN	16	94,472,221 (GRCm39)	missense	possibly damaging	0.88
IGL02508:Dyrk1a	APN	16	94,486,042 (GRCm39)	missense	probably damaging	0.97
IGL02709:Dyrk1a	APN	16	94,486,102 (GRCm39)	missense	probably benign	0.08
IGL02713:Dyrk1a	APN	16	94,486,204 (GRCm39)	splice site	probably benign
R0414:Dyrk1a	UTSW	16	94,464,701 (GRCm39)	missense	probably damaging	1.00
R2394:Dyrk1a	UTSW	16	94,485,991 (GRCm39)	missense	probably benign	0.02
R3124:Dyrk1a	UTSW	16	94,469,660 (GRCm39)	splice site	probably benign
R3125:Dyrk1a	UTSW	16	94,469,660 (GRCm39)	splice site	probably benign
R3792:Dyrk1a	UTSW	16	94,485,933 (GRCm39)	missense	probably benign	0.31
R3963:Dyrk1a	UTSW	16	94,464,605 (GRCm39)	missense	probably benign	0.00
R4573:Dyrk1a	UTSW	16	94,492,882 (GRCm39)	missense	possibly damaging	0.90
R4652:Dyrk1a	UTSW	16	94,492,924 (GRCm39)	missense	probably benign	0.02
R4965:Dyrk1a	UTSW	16	94,492,854 (GRCm39)	nonsense	probably null
R5326:Dyrk1a	UTSW	16	94,487,440 (GRCm39)	missense	probably damaging	0.98
R5540:Dyrk1a	UTSW	16	94,486,202 (GRCm39)	critical splice donor site	probably null
R5593:Dyrk1a	UTSW	16	94,460,442 (GRCm39)	missense	possibly damaging	0.64
R6313:Dyrk1a	UTSW	16	94,460,373 (GRCm39)	missense	possibly damaging	0.95
R6396:Dyrk1a	UTSW	16	94,472,299 (GRCm39)	missense	probably damaging	1.00
R6524:Dyrk1a	UTSW	16	94,485,979 (GRCm39)	missense	probably benign	0.02
R7036:Dyrk1a	UTSW	16	94,487,427 (GRCm39)	missense	probably benign	0.09
R7326:Dyrk1a	UTSW	16	94,492,902 (GRCm39)	missense	probably damaging	0.97
R7861:Dyrk1a	UTSW	16	94,492,575 (GRCm39)	nonsense	probably null
R7916:Dyrk1a	UTSW	16	94,474,200 (GRCm39)	missense	probably damaging	1.00
R8310:Dyrk1a	UTSW	16	94,492,650 (GRCm39)	missense	probably benign	0.02
R8669:Dyrk1a	UTSW	16	94,464,650 (GRCm39)	missense	probably damaging	1.00
R8698:Dyrk1a	UTSW	16	94,487,414 (GRCm39)	missense	possibly damaging	0.77
R8920:Dyrk1a	UTSW	16	94,460,488 (GRCm39)	missense	probably benign
R8945:Dyrk1a	UTSW	16	94,466,866 (GRCm39)	missense	probably damaging	1.00
R9233:Dyrk1a	UTSW	16	94,466,913 (GRCm39)	missense	probably benign	0.00
R9390:Dyrk1a	UTSW	16	94,474,330 (GRCm39)	missense	probably damaging	1.00
R9391:Dyrk1a	UTSW	16	94,460,373 (GRCm39)	missense	possibly damaging	0.95
RF010:Dyrk1a	UTSW	16	94,478,422 (GRCm39)	missense	probably benign
Z1176:Dyrk1a	UTSW	16	94,492,621 (GRCm39)	missense	probably benign	0.06
Z1177:Dyrk1a	UTSW	16	94,492,439 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TACAGAGGCTGGAGATGCAC -3'
(R):5'- TAAGCAGTGAGGATACCACAC -3'

Sequencing Primer
(F):5'- TGGAGATGCACACACAGTCCTAG -3'
(R):5'- GTGAGGATACCACACACCTTTAG -3'

Posted On

2014-09-18