Mutagenetix > Incidental Mutation

Incidental Mutation 'R8698:Dyrk1a'

668881

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

068552-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94370869-94496376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 94487414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 541 (H541Q)

Ref Sequence

ENSEMBL: ENSMUSP00000023614 (fasta)

Gene Model

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

AlphaFold

Q61214

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023614
AA Change: H541Q

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897
AA Change: H541Q

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

possibly damaging
Transcript: ENSMUST00000119878
AA Change: H541Q

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897
AA Change: H541Q

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: H503Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897
AA Change: H503Q

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: 99.9%
10x: 99.5%
20x: 98.3%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,247,250 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,306,714 (GRCm39)	N1384S	probably benign	Het
Adgre1	T	C	17: 57,709,003 (GRCm39)	S65P	probably benign	Het
Adgrl4	G	T	3: 151,203,512 (GRCm39)	C124F	probably damaging	Het
Aldh1b1	G	A	4: 45,802,942 (GRCm39)	G160D	probably damaging	Het
Alpi	T	G	1: 87,028,208 (GRCm39)	D205A	probably damaging	Het
AW146154	C	A	7: 41,129,934 (GRCm39)	R394L	probably benign	Het
Bcl10	G	A	3: 145,639,022 (GRCm39)	M221I	probably benign	Het
Brpf3	G	A	17: 29,037,436 (GRCm39)	R768H	probably damaging	Het
Cad	G	T	5: 31,234,819 (GRCm39)	R2116L	probably benign	Het
Cand2	G	T	6: 115,763,852 (GRCm39)	R258L	probably damaging	Het
Car4	A	T	11: 84,855,009 (GRCm39)	N119I	probably benign	Het
Carmil1	C	T	13: 24,220,229 (GRCm39)	G1165D	probably damaging	Het
Ccdc66	T	C	14: 27,212,647 (GRCm39)	T403A	probably benign	Het
Cdon	T	G	9: 35,398,269 (GRCm39)		probably null	Het
Cemip	T	C	7: 83,607,790 (GRCm39)	I739V	probably damaging	Het
Cep85l	A	G	10: 53,234,201 (GRCm39)	I59T	probably damaging	Het
Clec4f	A	T	6: 83,630,267 (GRCm39)	V97D	probably benign	Het
Cnot6l	A	G	5: 96,225,149 (GRCm39)	C515R	probably damaging	Het
Cntnap2	G	A	6: 47,026,156 (GRCm39)	G935D	probably damaging	Het
Cntrl	A	G	2: 35,023,974 (GRCm39)	H553R	probably damaging	Het
Cops3	A	G	11: 59,708,886 (GRCm39)	S423P	probably damaging	Het
Cox15	C	T	19: 43,739,948 (GRCm39)	R39H	probably benign	Het
Ctnna2	A	G	6: 77,630,100 (GRCm39)	V131A	probably benign	Het
Dcst2	T	A	3: 89,276,044 (GRCm39)	F392I	probably benign	Het
Decr1	A	G	4: 15,922,483 (GRCm39)		probably null	Het
Dennd3	A	C	15: 73,394,154 (GRCm39)	T60P	possibly damaging	Het
Dipk1a	A	T	5: 108,057,776 (GRCm39)	F261I	probably damaging	Het
Dmxl2	T	C	9: 54,281,953 (GRCm39)	N2859S	probably benign	Het
Dnah12	A	T	14: 26,428,418 (GRCm39)	I280F	probably benign	Het
Dnah8	A	C	17: 31,094,009 (GRCm39)	D4701A	probably damaging	Het
Eml4	T	C	17: 83,785,345 (GRCm39)	S906P	probably benign	Het
Fam169a	G	T	13: 97,243,578 (GRCm39)	V203F	probably damaging	Het
Fmn1	C	T	2: 113,260,152 (GRCm39)	L682F	unknown	Het
Gli2	T	C	1: 118,769,887 (GRCm39)	Y555C	probably damaging	Het
Gm3278	A	G	14: 16,081,505 (GRCm39)	Y130C	possibly damaging	Het
Gm8237	T	A	14: 5,863,554 (GRCm38)	Y37F	probably damaging	Het
Golga4	T	G	9: 118,385,029 (GRCm39)	L717R	probably damaging	Het
Gtpbp4	C	T	13: 9,024,249 (GRCm39)	R568H	probably benign	Het
Il1f10	A	G	2: 24,183,197 (GRCm39)	N47S	probably damaging	Het
Itga6	A	G	2: 71,673,618 (GRCm39)	H884R	probably benign	Het
Kdm1a	T	C	4: 136,286,518 (GRCm39)	K482R	probably benign	Het
Klk12	T	C	7: 43,419,113 (GRCm39)	V26A	probably benign	Het
Lrp2	T	A	2: 69,278,583 (GRCm39)	R3923S	probably benign	Het
Lrp2	C	T	2: 69,288,767 (GRCm39)	V3700M	probably benign	Het
Lrrk2	A	G	15: 91,636,400 (GRCm39)	D1458G	probably benign	Het
Mapre2	T	A	18: 24,011,090 (GRCm39)	S233T	probably benign	Het
Mki67	T	C	7: 135,296,937 (GRCm39)	D2699G	possibly damaging	Het
Mthfr	T	A	4: 148,128,947 (GRCm39)	Y214*	probably null	Het
Ncoa6	A	T	2: 155,257,041 (GRCm39)	M834K	possibly damaging	Het
Neurl2	C	T	2: 164,675,054 (GRCm39)	D103N	probably benign	Het
Niban3	T	A	8: 72,060,159 (GRCm39)	I93N	unknown	Het
Or1j15	T	C	2: 36,458,915 (GRCm39)	Y102H	possibly damaging	Het
Or2ag16	A	T	7: 106,352,571 (GRCm39)	V8E	probably benign	Het
Or2b7	G	A	13: 21,739,890 (GRCm39)	L101F	probably damaging	Het
P2ry14	A	G	3: 59,022,596 (GRCm39)	V288A	possibly damaging	Het
Pde6b	G	T	5: 108,576,105 (GRCm39)	S730I	possibly damaging	Het
Pdpk1	A	T	17: 24,298,542 (GRCm39)	V496D	probably damaging	Het
Plekho2	A	T	9: 65,463,554 (GRCm39)	L432M	probably damaging	Het
Ppa2	T	C	3: 133,082,362 (GRCm39)	L151P	unknown	Het
Ppp2r3c	G	A	12: 55,328,499 (GRCm39)	T422I	probably benign	Het
Prelid3a	T	C	18: 67,610,122 (GRCm39)	S151P	probably damaging	Het
Rad21l	G	A	2: 151,487,373 (GRCm39)	P537L	probably damaging	Het
Sacs	T	A	14: 61,450,802 (GRCm39)	S4283T	probably benign	Het
Samd9l	A	T	6: 3,373,843 (GRCm39)	D1139E	probably benign	Het
Scn9a	G	T	2: 66,366,628 (GRCm39)	H718Q	probably benign	Het
Slc1a3	A	T	15: 8,668,636 (GRCm39)	I443N	probably damaging	Het
Slc22a6	A	G	19: 8,600,889 (GRCm39)	M361V	probably benign	Het
Slc8a2	A	G	7: 15,891,132 (GRCm39)	Y724C	probably damaging	Het
Slf1	A	T	13: 77,197,284 (GRCm39)	S777T	possibly damaging	Het
Sltm	T	C	9: 70,494,352 (GRCm39)	S901P	probably benign	Het
Smc1b	A	T	15: 84,997,047 (GRCm39)	H524Q	probably benign	Het
Spast	T	C	17: 74,666,341 (GRCm39)	S225P	probably benign	Het
Srsf12	C	T	4: 33,231,246 (GRCm39)	R252W	probably damaging	Het
Syne1	A	G	10: 5,179,229 (GRCm39)	L4415P	probably damaging	Het
Tmem117	A	T	15: 94,535,990 (GRCm39)	Y8F	probably benign	Het
Tmem241	T	C	18: 12,197,288 (GRCm39)	D180G	possibly damaging	Het
Tomm40	C	T	7: 19,444,890 (GRCm39)	V164I	probably benign	Het
Ttc41	T	C	10: 86,548,841 (GRCm39)	Y12H	probably benign	Het
Twnk	T	C	19: 44,996,299 (GRCm39)	V244A	probably benign	Het
Ugt1a8	T	C	1: 88,015,952 (GRCm39)	S122P	probably damaging	Het
Vmn1r78	A	G	7: 11,886,539 (GRCm39)	K50R	probably benign	Het
Vmn2r10	A	G	5: 109,151,390 (GRCm39)	F75L	probably benign	Het
Wbp4	G	T	14: 79,707,573 (GRCm39)	Y179*	probably null	Het
Zfp106	A	G	2: 120,354,600 (GRCm39)		probably null	Het
Zfp974	A	T	7: 27,610,361 (GRCm39)	C455S	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
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
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'- CCTAAGCAGTGAGGATACCAC -3'

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

Posted On

2021-04-30