Mutagenetix > Incidental Mutation

Incidental Mutation 'R7326:Dyrk1a'

568954

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

045378-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7326 (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 94492902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 712 (T712A)

Ref Sequence

ENSEMBL: ENSMUSP00000023614 (fasta)

Gene Model

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

AlphaFold

Q61214

Predicted Effect

probably damaging
Transcript: ENSMUST00000023614
AA Change: T712A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897
AA Change: T712A

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: T712A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897
AA Change: T712A

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: T674A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897
AA Change: T674A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,984,226 (GRCm39)	V652A	probably benign	Het
Acvrl1	G	T	15: 101,038,953 (GRCm39)	V417L	probably damaging	Het
Add1	A	G	5: 34,776,715 (GRCm39)	R479G	probably benign	Het
Adgb	A	T	10: 10,276,318 (GRCm39)	L350Q	possibly damaging	Het
Adgrl2	A	T	3: 148,552,506 (GRCm39)	S666T	probably benign	Het
Akap9	T	A	5: 4,095,930 (GRCm39)	D2268E	possibly damaging	Het
Amigo3	C	A	9: 107,931,265 (GRCm39)	H229Q	probably benign	Het
Ano6	G	C	15: 95,762,125 (GRCm39)	Q31H	possibly damaging	Het
Ap4m1	G	A	5: 138,173,281 (GRCm39)	D180N	probably damaging	Het
Apc2	A	T	10: 80,147,574 (GRCm39)	D876V	probably damaging	Het
Apcdd1	T	A	18: 63,085,259 (GRCm39)	Y485*	probably null	Het
Aqp1	G	T	6: 55,313,836 (GRCm39)	D121Y	probably benign	Het
Bicd2	C	A	13: 49,523,085 (GRCm39)	R141S	probably benign	Het
Brpf3	C	A	17: 29,025,267 (GRCm39)	H113Q	probably benign	Het
Cacng2	A	T	15: 77,897,520 (GRCm39)	Y96*	probably null	Het
Catsperg1	G	T	7: 28,910,184 (GRCm39)	N52K	possibly damaging	Het
Celsr2	A	C	3: 108,302,311 (GRCm39)	F2606V	possibly damaging	Het
Cerkl	A	T	2: 79,162,949 (GRCm39)	N516K	probably benign	Het
Ciita	G	A	16: 10,330,152 (GRCm39)	R812H	probably damaging	Het
Cldn3	T	A	5: 135,015,837 (GRCm39)	L180Q	probably damaging	Het
Cnot6l	T	C	5: 96,225,158 (GRCm39)	I512V	probably benign	Het
Col5a2	A	T	1: 45,482,027 (GRCm39)	D32E	unknown	Het
Coro7	A	G	16: 4,449,912 (GRCm39)	V616A	probably damaging	Het
Cyp4f18	T	C	8: 72,742,498 (GRCm39)	D494G	probably benign	Het
Ddx39a	T	A	8: 84,449,100 (GRCm39)	V296E	probably benign	Het
Dgkg	A	T	16: 22,367,440 (GRCm39)	H593Q	probably damaging	Het
Dhx16	T	C	17: 36,197,052 (GRCm39)	L645P	probably damaging	Het
Dnah14	A	G	1: 181,425,968 (GRCm39)	M171V	probably benign	Het
Dnhd1	G	A	7: 105,370,137 (GRCm39)	V4521I	probably damaging	Het
Dok7	A	T	5: 35,221,866 (GRCm39)	M60L	probably benign	Het
Donson	A	T	16: 91,485,599 (GRCm39)	M1K	probably null	Het
Dsp	C	T	13: 38,376,859 (GRCm39)	T1548M	probably benign	Het
Eef2	A	G	10: 81,017,116 (GRCm39)	T708A	probably benign	Het
Epn3	G	A	11: 94,384,606 (GRCm39)	T289I	probably benign	Het
Fam171a1	C	T	2: 3,227,509 (GRCm39)	R881*	probably null	Het
Fat2	T	A	11: 55,173,130 (GRCm39)	R2528W	probably damaging	Het
Fbxl9	T	C	8: 106,039,530 (GRCm39)	D127G	probably damaging	Het
Fgfr1	T	G	8: 26,063,855 (GRCm39)	F707C	probably damaging	Het
Frem2	G	C	3: 53,562,174 (GRCm39)	P778A	probably damaging	Het
Ganc	A	G	2: 120,261,080 (GRCm39)	Y255C	probably damaging	Het
Garin4	G	A	1: 190,896,550 (GRCm39)	T31M	probably benign	Het
Ginm1	A	T	10: 7,653,614 (GRCm39)	Y65*	probably null	Het
Gm11559	T	A	11: 99,755,707 (GRCm39)	C119S	unknown	Het
Gnai1	T	A	5: 18,494,549 (GRCm39)	H188L		Het
H2bc6	T	C	13: 23,769,906 (GRCm39)	K12E	probably benign	Het
H6pd	C	T	4: 150,080,807 (GRCm39)	A13T	probably benign	Het
Hoxd12	A	T	2: 74,505,590 (GRCm39)	T54S	possibly damaging	Het
Hs3st5	T	A	10: 36,709,190 (GRCm39)	L242M	probably damaging	Het
Il9r	C	A	11: 32,144,389 (GRCm39)	V139L	possibly damaging	Het
Immt	A	G	6: 71,823,353 (GRCm39)	D68G	probably damaging	Het
Itsn2	A	G	12: 4,682,985 (GRCm39)	I304V	unknown	Het
Lgr4	G	A	2: 109,826,974 (GRCm39)	W159*	probably null	Het
Lin52	G	A	12: 84,504,728 (GRCm39)	G38S	probably damaging	Het
Lpgat1	A	T	1: 191,451,565 (GRCm39)	M64L	probably benign	Het
Lrrc10b	G	T	19: 10,434,142 (GRCm39)	R180S	possibly damaging	Het
Lrrc36	A	T	8: 106,176,401 (GRCm39)	L258F	possibly damaging	Het
Ltbp4	T	A	7: 27,029,180 (GRCm39)	Q235L	unknown	Het
Maml2	A	G	9: 13,532,903 (GRCm39)	M706V		Het
Mc5r	G	T	18: 68,472,739 (GRCm39)	C366F	probably damaging	Het
Mlip	T	C	9: 77,072,124 (GRCm39)	R244G	probably benign	Het
Muc16	T	A	9: 18,496,309 (GRCm39)	R6658S	probably benign	Het
Mup4	G	T	4: 59,960,046 (GRCm39)	H73N	possibly damaging	Het
Nf1	A	G	11: 79,455,769 (GRCm39)	M565V	probably benign	Het
Nphp1	G	A	2: 127,603,137 (GRCm39)	T382I	possibly damaging	Het
Nrcam	C	T	12: 44,610,809 (GRCm39)	T503I	possibly damaging	Het
Nwd2	A	T	5: 63,957,752 (GRCm39)	N361Y	probably damaging	Het
Or10a3	A	T	7: 108,480,023 (GRCm39)	H263Q	probably damaging	Het
Or4f15	A	T	2: 111,813,672 (GRCm39)	L249*	probably null	Het
Or5ak23	A	T	2: 85,244,788 (GRCm39)	V145E	probably damaging	Het
Or6f1	A	G	7: 85,970,782 (GRCm39)	I126T	probably damaging	Het
Or7g21	A	G	9: 19,032,965 (GRCm39)	Y235C	probably benign	Het
Or8j3	A	G	2: 86,028,917 (GRCm39)	Y60H	probably damaging	Het
Or9a7	G	T	6: 40,521,829 (GRCm39)	A28E	probably damaging	Het
Orc5	A	G	5: 22,728,582 (GRCm39)	F308L	probably benign	Het
Padi1	T	A	4: 140,559,715 (GRCm39)	Y54F	probably benign	Het
Parp1	A	G	1: 180,396,665 (GRCm39)	K23E	possibly damaging	Het
Pate1	A	T	9: 35,597,268 (GRCm39)	V79D	possibly damaging	Het
Pcdh18	T	C	3: 49,711,309 (GRCm39)	H2R	probably benign	Het
Pcnx2	G	A	8: 126,613,822 (GRCm39)	S543F	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pnkp	T	A	7: 44,509,158 (GRCm39)	F169L	probably damaging	Het
Ppp6r3	A	T	19: 3,557,325 (GRCm39)	N254K	probably damaging	Het
Psd	A	G	19: 46,312,893 (GRCm39)	L159P	probably benign	Het
Ptprf	A	G	4: 118,088,866 (GRCm39)	Y646H	probably damaging	Het
Rab3ip	A	T	10: 116,773,538 (GRCm39)	S92T	probably benign	Het
Rabgef1	A	G	5: 130,216,192 (GRCm39)		probably benign	Het
Ralgapa1	C	A	12: 55,755,789 (GRCm39)	W1129L	probably damaging	Het
Rhpn2	T	A	7: 35,084,888 (GRCm39)	L594Q	probably benign	Het
Rnf38	C	A	4: 44,158,989 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,753,080 (GRCm39)	H1747L	possibly damaging	Het
Sec16a	A	G	2: 26,329,729 (GRCm39)	L13P	unknown	Het
Spef1l	A	T	7: 139,558,458 (GRCm39)		probably null	Het
Sppl3	C	A	5: 115,220,394 (GRCm39)	T102K	probably damaging	Het
Srgap2	A	T	1: 131,219,351 (GRCm39)	Y264*	probably null	Het
Stxbp2	T	C	8: 3,691,151 (GRCm39)	M465T		Het
Sumf2	A	G	5: 129,891,551 (GRCm39)	K305R	probably benign	Het
Susd2	T	A	10: 75,478,399 (GRCm39)	Y59F	probably benign	Het
Taco1	T	C	11: 105,963,443 (GRCm39)	V198A	probably benign	Het
Tas2r136	A	T	6: 132,754,869 (GRCm39)	M86K	possibly damaging	Het
Tbc1d10c	T	C	19: 4,234,897 (GRCm39)	E388G	possibly damaging	Het
Tmem132c	C	T	5: 127,641,123 (GRCm39)	T1098I	possibly damaging	Het
Trim3	G	T	7: 105,267,007 (GRCm39)	Y457*	probably null	Het
Ttc38	A	G	15: 85,737,062 (GRCm39)	T316A	probably benign	Het
Ubqln4	T	A	3: 88,463,217 (GRCm39)	N127K	probably benign	Het
Wdr91	A	T	6: 34,881,561 (GRCm39)	F262Y	probably damaging	Het
Zdhhc6	A	T	19: 55,291,187 (GRCm39)	C343S	possibly damaging	Het
Zfp248	A	G	6: 118,407,170 (GRCm39)	C140R	probably damaging	Het
Zfp266	T	C	9: 20,413,391 (GRCm39)	T90A	probably benign	Het
Zfp407	A	T	18: 84,577,167 (GRCm39)	D1315E	possibly damaging	Het
Zfp644	T	C	5: 106,786,143 (GRCm39)	S135G	probably benign	Het
Zscan29	A	T	2: 120,991,469 (GRCm39)	I773N	probably damaging	Het
Zswim5	T	A	4: 116,838,031 (GRCm39)	V787E	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
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
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'- AGGCCAAGGGTCTACAATTCTC -3'
(R):5'- TTCAATGTAGTCACGAGCTAGC -3'

Sequencing Primer
(F):5'- CTCTACCCAGGATTCTATGGAGG -3'
(R):5'- TCAATGTAGTCACGAGCTAGCTACAG -3'

Posted On

2019-09-13