Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02713:Dyrk1a'

304671

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dyrk1a

Ensembl Gene

ENSMUSG00000022897

Gene Name

dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1a

Synonyms

D16Ertd493e, Mnbh, 2310043O08Rik, D16Ertd272e, Dyrk

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02713

Quality Score

Status

Chromosome

Chromosomal Location

94570010-94695517 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 94685345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112853 (fasta)

Gene Model

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

AlphaFold

Q61214

Predicted Effect

probably benign
Transcript: ENSMUST00000023614

SMART Domains

Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897

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

SMART Domains

Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897

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

SMART Domains

Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,624,137	K893N	possibly damaging	Het
Acan	A	G	7: 79,100,244	T1588A	possibly damaging	Het
Apeh	A	T	9: 108,085,672	L700Q	probably damaging	Het
Arid1b	T	C	17: 5,343,011	I2272T	probably damaging	Het
Best3	T	G	10: 117,024,529	F565V	probably benign	Het
Birc6	A	G	17: 74,579,324	N521S	probably benign	Het
Cd209f	T	A	8: 4,103,732	R191S	probably benign	Het
Clec4e	A	T	6: 123,286,304	Y63*	probably null	Het
Cyp26c1	C	T	19: 37,693,219	T490M	probably damaging	Het
Cyp2b9	T	A	7: 26,173,520	H29Q	probably benign	Het
Cyp2d10	A	C	15: 82,406,082		probably benign	Het
Dgat1	C	A	15: 76,503,534	R291L	probably damaging	Het
Esp4	T	C	17: 40,602,406	F55L	probably benign	Het
Fam227a	G	A	15: 79,636,796		probably benign	Het
Ggt1	T	C	10: 75,574,344	Y37H	probably damaging	Het
Grsf1	A	T	5: 88,672,730	I64K	probably damaging	Het
Itga6	C	T	2: 71,816,713	T89I	possibly damaging	Het
Jph2	T	C	2: 163,375,917	T280A	probably damaging	Het
Lipm	A	G	19: 34,101,170	M1V	probably null	Het
Nbeal1	C	T	1: 60,235,237	A513V	possibly damaging	Het
Olfr1491	A	T	19: 13,705,189	I121F	possibly damaging	Het
Olfr514	A	T	7: 108,825,594	M135K	probably damaging	Het
Olfr518	G	A	7: 108,880,853	T251I	probably damaging	Het
Olfr61	A	T	7: 140,637,916	I72F	probably damaging	Het
Olfr888	C	T	9: 38,109,327	P214S	probably damaging	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Orc6	A	G	8: 85,307,586	E146G	probably benign	Het
Patl2	A	G	2: 122,125,847	S179P	probably benign	Het
Pdzd8	C	A	19: 59,345,458	G44C	probably damaging	Het
Phox2b	A	G	5: 67,096,595		probably benign	Het
Ppp4r3b	T	G	11: 29,188,445	H264Q	probably damaging	Het
Ptprk	T	C	10: 28,592,811	I1409T	possibly damaging	Het
Pum1	T	A	4: 130,766,012	I842N	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sgca	T	A	11: 94,971,305	N174Y	probably damaging	Het
Slc7a14	A	T	3: 31,257,763	L36Q	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stard13	G	A	5: 151,042,186	Q935*	probably null	Het
Suds3	C	T	5: 117,094,905		probably null	Het
Sv2b	A	T	7: 75,124,163	L520Q	possibly damaging	Het
Tmem26	T	C	10: 68,751,295	F191S	probably damaging	Het

Other mutations in Dyrk1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Dyrk1a	APN	16	94685084	missense	probably benign	0.21
IGL01599:Dyrk1a	APN	16	94691884	missense	possibly damaging	0.94
IGL01809:Dyrk1a	APN	16	94659617	missense	probably benign	0.00
IGL02201:Dyrk1a	APN	16	94692149	missense	probably benign	0.05
IGL02345:Dyrk1a	APN	16	94671362	missense	possibly damaging	0.88
IGL02508:Dyrk1a	APN	16	94685183	missense	probably damaging	0.97
IGL02709:Dyrk1a	APN	16	94685243	missense	probably benign	0.08
R0414:Dyrk1a	UTSW	16	94663842	missense	probably damaging	1.00
R2107:Dyrk1a	UTSW	16	94686527	missense	probably damaging	1.00
R2394:Dyrk1a	UTSW	16	94685132	missense	probably benign	0.02
R3124:Dyrk1a	UTSW	16	94668801	splice site	probably benign
R3125:Dyrk1a	UTSW	16	94668801	splice site	probably benign
R3792:Dyrk1a	UTSW	16	94685074	missense	probably benign	0.31
R3963:Dyrk1a	UTSW	16	94663746	missense	probably benign	0.00
R4573:Dyrk1a	UTSW	16	94692023	missense	possibly damaging	0.90
R4652:Dyrk1a	UTSW	16	94692065	missense	probably benign	0.02
R4965:Dyrk1a	UTSW	16	94691995	nonsense	probably null
R5326:Dyrk1a	UTSW	16	94686581	missense	probably damaging	0.98
R5540:Dyrk1a	UTSW	16	94685343	critical splice donor site	probably null
R5593:Dyrk1a	UTSW	16	94659583	missense	possibly damaging	0.64
R6313:Dyrk1a	UTSW	16	94659514	missense	possibly damaging	0.95
R6396:Dyrk1a	UTSW	16	94671440	missense	probably damaging	1.00
R6524:Dyrk1a	UTSW	16	94685120	missense	probably benign	0.02
R7036:Dyrk1a	UTSW	16	94686568	missense	probably benign	0.09
R7326:Dyrk1a	UTSW	16	94692043	missense	probably damaging	0.97
R7861:Dyrk1a	UTSW	16	94691716	nonsense	probably null
R7916:Dyrk1a	UTSW	16	94673341	missense	probably damaging	1.00
R8310:Dyrk1a	UTSW	16	94691791	missense	probably benign	0.02
R8669:Dyrk1a	UTSW	16	94663791	missense	probably damaging	1.00
R8698:Dyrk1a	UTSW	16	94686555	missense	possibly damaging	0.77
R8920:Dyrk1a	UTSW	16	94659629	missense	probably benign
R8945:Dyrk1a	UTSW	16	94666007	missense	probably damaging	1.00
R9233:Dyrk1a	UTSW	16	94666054	missense	probably benign	0.00
R9390:Dyrk1a	UTSW	16	94673471	missense	probably damaging	1.00
R9391:Dyrk1a	UTSW	16	94659514	missense	possibly damaging	0.95
RF010:Dyrk1a	UTSW	16	94677563	missense	probably benign
Z1176:Dyrk1a	UTSW	16	94691762	missense	probably benign	0.06
Z1177:Dyrk1a	UTSW	16	94691580	critical splice acceptor site	probably null

Posted On

2015-04-16