Mutagenetix > Incidental Mutation

Incidental Mutation 'RF010:Dyrk1a'

603155

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94370869-94496376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94478422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 404 (S404G)

Ref Sequence

ENSEMBL: ENSMUSP00000023614 (fasta)

Gene Model

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

AlphaFold

Q61214

Predicted Effect

probably benign
Transcript: ENSMUST00000023614
AA Change: S404G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897
AA Change: S404G

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 benign
Transcript: ENSMUST00000119878
AA Change: S404G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897
AA Change: S404G

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 benign
Transcript: ENSMUST00000122284
AA Change: S366G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897
AA Change: S366G

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

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 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	17: 35,879,473 (GRCm39)		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Ankrd28	A	G	14: 31,500,943 (GRCm39)	I16T	probably damaging	Het
AY761185	GCACTGTGGGC	G	8: 21,433,927 (GRCm39)		probably null	Het
Bend3	T	A	10: 43,386,180 (GRCm39)	F191Y	possibly damaging	Het
Calhm1	GTGGC	GTGGCTGTGGCTATGGC	19: 47,129,712 (GRCm39)		probably benign	Het
Camkv	CGCTGCTGC	CGC	9: 107,825,059 (GRCm39)		probably benign	Het
Cfap251	TCTCA	T	5: 123,412,224 (GRCm39)		probably benign	Het
Chga	GCA	GCATCA	12: 102,527,662 (GRCm39)		probably benign	Het
Cngb1	CTCTGGCTCTGGCTCTGGCTCTG	C	8: 96,030,278 (GRCm39)		probably null	Het
Cnot3	T	C	7: 3,659,068 (GRCm39)	V438A	probably benign	Het
Cntnap5c	T	A	17: 58,593,790 (GRCm39)	W710R	probably damaging	Het
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,602,075 (GRCm39)		probably benign	Het
Flywch1	GTGT	GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT	17: 23,981,149 (GRCm39)		probably null	Het
Fmn2	T	A	1: 174,409,581 (GRCm39)	S605T	unknown	Het
Gab3	TCT	TCTGCT	X: 74,043,617 (GRCm39)		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 71,313,666 (GRCm39)		probably benign	Het
Gli3	A	G	13: 15,900,954 (GRCm39)	Y1447C	probably damaging	Het
Hibch	T	C	1: 52,952,891 (GRCm39)	V297A	probably benign	Het
Ifi213	C	G	1: 173,409,719 (GRCm39)	D462H	probably damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Lce1m	GCTGCTGCC	GCTGCTGCCCCCACTGCTGCC	3: 92,925,597 (GRCm39)		probably benign	Het
Lpo	A	G	11: 87,711,928 (GRCm39)	V43A	probably benign	Het
Map1a	A	AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC	2: 121,136,799 (GRCm39)		probably benign	Het
Mapk9	A	G	11: 49,745,083 (GRCm39)		probably benign	Het
Mep1a	G	A	17: 43,797,126 (GRCm39)	H314Y	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Myh3	AC	ACTTCC	11: 66,977,185 (GRCm39)		probably null	Het
Nusap1	ACGTTAGCAGTGAGGAGCAA	ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA	2: 119,458,065 (GRCm39)		probably benign	Het
Or10ag56	T	A	2: 87,139,184 (GRCm39)	V37E	possibly damaging	Het
Or14a259	T	C	7: 86,012,594 (GRCm39)	Q317R	probably benign	Het
Pdcd11	AGGAGG	A	19: 47,101,890 (GRCm39)		probably null	Het
Pfkm	T	A	15: 98,027,674 (GRCm39)	I651N	possibly damaging	Het
Phldb3	CCCCCGCCCC	CCCCC	7: 24,325,920 (GRCm39)		probably null	Het
Polr1has	CACCACCAC	CACCACCACCACCACCACCACTACCACCAC	17: 37,275,955 (GRCm39)		probably benign	Het
Prkce	T	C	17: 86,795,627 (GRCm39)	V288A	probably damaging	Het
Pxmp4	A	G	2: 154,434,183 (GRCm39)	S93P	probably damaging	Het
Rfc4	T	C	16: 22,946,232 (GRCm39)	T17A	probably benign	Het
Rfx4	CTCTCTCT	CTCTCTCTCTCTCTCTATCTCTCT	10: 84,694,351 (GRCm39)		probably benign	Het
Ryr3	G	T	2: 112,606,015 (GRCm39)	A2415E	probably damaging	Het
Sbp	ACAAAGATGCTGACAACAAAGATGCTGACA	ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA	17: 24,164,325 (GRCm39)		probably benign	Het
Sec24c	T	A	14: 20,738,783 (GRCm39)		probably null	Het
Sec63	C	A	10: 42,682,620 (GRCm39)	A437E	probably benign	Het
Six3	GCG	GCGTCG	17: 85,928,783 (GRCm39)		probably benign	Het
Slco5a1	G	A	1: 12,942,171 (GRCm39)	T825I	probably damaging	Het
Spmap2l	CAG	CAGCGATCCTCCCCAGTCCCGCAAGGCGAG	5: 77,164,274 (GRCm39)		probably benign	Het
Stard8	GGA	GGAAGA	X: 98,110,123 (GRCm39)		probably benign	Het
Stxbp1	A	G	2: 32,711,927 (GRCm39)	V30A	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,635,083 (GRCm39)		probably benign	Het
Syne1	T	A	10: 5,196,386 (GRCm39)	D3882V	possibly damaging	Het
T	A	G	17: 8,660,540 (GRCm39)	T384A	probably benign	Het
Tbc1d12	CGGGGCGG	CG	19: 38,825,384 (GRCm39)		probably benign	Het
Tcof1	CAG	CAGAAG	18: 60,968,816 (GRCm39)		probably benign	Het
Tcstv5	A	T	13: 120,411,582 (GRCm39)	V8E	probably benign	Het
Tfeb	GCA	GCAACA	17: 48,097,019 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,032 (GRCm39)		probably benign	Het
Thumpd3	C	T	6: 113,033,006 (GRCm39)	A248V	probably damaging	Het
Tlcd4	T	A	3: 121,022,533 (GRCm39)	I103L	probably benign	Het
Tmem181a	T	C	17: 6,330,978 (GRCm39)		probably null	Het
Trim41	A	T	11: 48,698,165 (GRCm39)	H600Q	probably damaging	Het
Ttbk2	A	T	2: 120,620,820 (GRCm39)	C147*	probably null	Het
Ttll2	C	T	17: 7,618,737 (GRCm39)	A397T	probably benign	Het
Unc79	T	A	12: 103,079,046 (GRCm39)	L1737Q	probably benign	Het
Usp47	T	A	7: 111,692,145 (GRCm39)	V869E	probably damaging	Het
Vmn1r231	T	A	17: 21,110,255 (GRCm39)	Q220L	probably damaging	Het
Vmn2r26	C	T	6: 124,016,448 (GRCm39)	T304I	possibly damaging	Het
Wrn	T	C	8: 33,778,793 (GRCm39)	N839S	probably benign	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp384	GGCCCAGG	GGCCCAGGAGCACGCCCAGG	6: 125,013,451 (GRCm39)		probably benign	Het
Zfyve26	C	T	12: 79,302,112 (GRCm39)	C1828Y	probably 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
R2107:Dyrk1a	UTSW	16	94,487,386 (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
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'- CAGAAGTGGATGAGTTTACAGTTG -3'
(R):5'- GTGCACAGTCAGCTCAACTAC -3'

Sequencing Primer
(F):5'- AGTGGAAGTCTTGGGCAT -3'
(R):5'- GTCAGCTCAACTACAATCAACTTTTG -3'

Posted On

2019-12-04