Mutagenetix > Incidental Mutation

Incidental Mutation 'R1645:Dyrk4'

173812

Institutional Source

Beutler Lab

Gene Symbol

Dyrk4

Ensembl Gene

ENSMUSG00000030345

Gene Name

dual-specificity tyrosine phosphorylation regulated kinase 4

Synonyms

Dyrk4b, Dyrk4a

MMRRC Submission

039681-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1645 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126852983-126898802 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 126871756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 171 (E171*)

Ref Sequence

ENSEMBL: ENSMUSP00000077606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078521]

AlphaFold

Q8BI55

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000032495

Predicted Effect

probably null
Transcript: ENSMUST00000078521
AA Change: E171*

SMART Domains

Protein: ENSMUSP00000077606
Gene: ENSMUSG00000030345
AA Change: E171*

Domain	Start	End	E-Value	Type
S_TKc	219	515	2.9e-84	SMART
low complexity region	555	573	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to a conserved family of serine/threonine protein kinases. Members of this dual specificity kinase family are thought to function in the regulation of cell differentiation and proliferation, survival, and in development. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]
PHENOTYPE: Contrary to expectation, homozygous null males are fertile and do not exhibit any obvious dysfunction in spermatogenesis, sperm motility and fertilization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,948,926 (GRCm39)	M1732V	probably benign	Het
Acvr1	A	T	2: 58,352,911 (GRCm39)	C350S	probably damaging	Het
Adgrl2	A	T	3: 148,571,244 (GRCm39)	V130D	probably damaging	Het
Anapc1	A	G	2: 128,500,166 (GRCm39)		probably null	Het
Asap1	A	T	15: 63,961,324 (GRCm39)	V1116E	probably damaging	Het
Bcas1	T	A	2: 170,229,087 (GRCm39)	D308V	probably damaging	Het
Brca1	G	A	11: 101,400,879 (GRCm39)	H1468Y	probably benign	Het
C2cd5	A	G	6: 142,995,852 (GRCm39)	C421R	probably damaging	Het
C4b	A	G	17: 34,959,571 (GRCm39)	S363P	probably damaging	Het
Camk2b	A	T	11: 5,922,719 (GRCm39)	C484S	probably damaging	Het
Cby2	C	A	14: 75,821,089 (GRCm39)	R212L	probably benign	Het
Ccny	T	C	18: 9,345,199 (GRCm39)	T192A	probably damaging	Het
Chl1	G	T	6: 103,660,141 (GRCm39)	A356S	probably benign	Het
Dst	T	A	1: 34,264,803 (GRCm39)	Y4850N	probably damaging	Het
Entrep3	C	A	3: 89,094,154 (GRCm39)	D322E	possibly damaging	Het
Ephb1	A	G	9: 101,804,758 (GRCm39)	Y928H	probably damaging	Het
Fam114a2	A	T	11: 57,390,621 (GRCm39)	N304K	probably benign	Het
Fras1	A	T	5: 96,848,445 (GRCm39)	D1820V	possibly damaging	Het
Gabbr2	A	T	4: 46,664,963 (GRCm39)		probably null	Het
Gm6358	T	C	16: 88,937,967 (GRCm39)	W69R	unknown	Het
Ikbkb	C	A	8: 23,181,082 (GRCm39)	S127I	probably damaging	Het
Impa1	A	T	3: 10,393,501 (GRCm39)	M48K	possibly damaging	Het
Klra2	A	T	6: 131,220,857 (GRCm39)		probably null	Het
Lama1	A	T	17: 68,044,677 (GRCm39)	Y192F	probably benign	Het
Lama2	T	A	10: 27,244,981 (GRCm39)	T267S	probably damaging	Het
Mroh7	G	A	4: 106,577,865 (GRCm39)	T271I	probably benign	Het
Myo9b	A	G	8: 71,775,622 (GRCm39)	E348G	probably damaging	Het
Nrp2	C	T	1: 62,824,283 (GRCm39)	P796L	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or10al4	A	T	17: 38,037,229 (GRCm39)	T114S	probably benign	Het
Or51i1	A	G	7: 103,671,210 (GRCm39)	F105S	probably damaging	Het
Or9k7	T	A	10: 130,046,081 (GRCm39)	D306V	probably damaging	Het
P3h2	T	A	16: 25,815,982 (GRCm39)	H177L	probably damaging	Het
Pcdhb16	T	C	18: 37,612,423 (GRCm39)	I461T	probably benign	Het
Pdlim3	A	G	8: 46,349,785 (GRCm39)	I32V	probably benign	Het
Pigu	A	C	2: 155,170,598 (GRCm39)	Y143*	probably null	Het
Prkd3	A	C	17: 79,263,949 (GRCm39)		probably null	Het
Psrc1	C	T	3: 108,292,554 (GRCm39)	R116W	probably damaging	Het
Rab5b	A	G	10: 128,522,695 (GRCm39)	S29P	possibly damaging	Het
Rbm26	A	G	14: 105,388,253 (GRCm39)	V403A	probably damaging	Het
Rbm47	G	T	5: 66,184,481 (GRCm39)	R41S	probably benign	Het
Rngtt	A	G	4: 33,362,939 (GRCm39)	I364M	probably damaging	Het
Ryr2	A	T	13: 11,733,368 (GRCm39)	C2271*	probably null	Het
Shcbp1	T	A	8: 4,799,645 (GRCm39)	Q277L	probably benign	Het
Sntg1	T	C	1: 8,874,155 (GRCm39)	T5A	probably benign	Het
Snx24	T	C	18: 53,522,634 (GRCm39)	F163S	probably benign	Het
Srp72	T	C	5: 77,146,125 (GRCm39)	V581A	probably benign	Het
Srrt	T	A	5: 137,300,401 (GRCm39)	K59*	probably null	Het
Tnrc6b	A	G	15: 80,767,159 (GRCm39)	T975A	probably damaging	Het
Vmn1r174	G	A	7: 23,453,777 (GRCm39)	V148I	possibly damaging	Het
Vmn2r115	T	A	17: 23,565,192 (GRCm39)	C360S	possibly damaging	Het
Vwa8	A	T	14: 79,420,427 (GRCm39)	Q1709H	probably damaging	Het
Wdr11	A	G	7: 129,215,613 (GRCm39)	T526A	probably benign	Het
Zfp532	C	A	18: 65,820,335 (GRCm39)	N973K	probably benign	Het

Other mutations in Dyrk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02474:Dyrk4	APN	6	126,857,194 (GRCm39)	missense	probably damaging	1.00
IGL02598:Dyrk4	APN	6	126,860,982 (GRCm39)	intron	probably benign
IGL02697:Dyrk4	APN	6	126,875,971 (GRCm39)	missense	possibly damaging	0.88
IGL03127:Dyrk4	APN	6	126,874,134 (GRCm39)	missense	possibly damaging	0.92
IGL03229:Dyrk4	APN	6	126,863,605 (GRCm39)	unclassified	probably benign
IGL03248:Dyrk4	APN	6	126,861,016 (GRCm39)	missense	probably benign	0.05
R0597:Dyrk4	UTSW	6	126,863,612 (GRCm39)	splice site	probably null
R0862:Dyrk4	UTSW	6	126,854,296 (GRCm39)	missense	possibly damaging	0.78
R0864:Dyrk4	UTSW	6	126,854,296 (GRCm39)	missense	possibly damaging	0.78
R1470:Dyrk4	UTSW	6	126,893,337 (GRCm39)	nonsense	probably null
R1470:Dyrk4	UTSW	6	126,893,337 (GRCm39)	nonsense	probably null
R1650:Dyrk4	UTSW	6	126,876,792 (GRCm39)	missense	probably benign	0.28
R1885:Dyrk4	UTSW	6	126,854,144 (GRCm39)	missense	probably benign	0.15
R3947:Dyrk4	UTSW	6	126,862,268 (GRCm39)	missense	probably damaging	1.00
R3948:Dyrk4	UTSW	6	126,862,268 (GRCm39)	missense	probably damaging	1.00
R3949:Dyrk4	UTSW	6	126,862,268 (GRCm39)	missense	probably damaging	1.00
R4794:Dyrk4	UTSW	6	126,862,300 (GRCm39)	missense	possibly damaging	0.79
R5991:Dyrk4	UTSW	6	126,857,188 (GRCm39)	missense	probably benign	0.44
R6143:Dyrk4	UTSW	6	126,863,614 (GRCm39)	critical splice donor site	probably null
R6269:Dyrk4	UTSW	6	126,863,690 (GRCm39)	missense	probably damaging	1.00
R6572:Dyrk4	UTSW	6	126,874,201 (GRCm39)	missense	probably benign
R6598:Dyrk4	UTSW	6	126,853,289 (GRCm39)	missense	probably benign	0.20
R6703:Dyrk4	UTSW	6	126,867,045 (GRCm39)	missense	probably damaging	1.00
R6750:Dyrk4	UTSW	6	126,875,918 (GRCm39)	missense	probably benign	0.00
R7214:Dyrk4	UTSW	6	126,862,200 (GRCm39)	missense	probably benign	0.35
R7585:Dyrk4	UTSW	6	126,867,007 (GRCm39)	missense	probably damaging	1.00
R8101:Dyrk4	UTSW	6	126,868,612 (GRCm39)	missense	possibly damaging	0.87
R8203:Dyrk4	UTSW	6	126,871,797 (GRCm39)	missense	probably damaging	1.00
R8769:Dyrk4	UTSW	6	126,857,208 (GRCm39)	missense	possibly damaging	0.49
R8975:Dyrk4	UTSW	6	126,871,783 (GRCm39)	missense	probably benign	0.00
R9642:Dyrk4	UTSW	6	126,893,253 (GRCm39)	missense	probably benign	0.05
Z1176:Dyrk4	UTSW	6	126,869,091 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTGGGAAACCTATCCCACCGTG -3'
(R):5'- CCAGTCTGCTGTTTCAGTGTGACC -3'

Sequencing Primer
(F):5'- AGTACTGCAAAATATCCCCTTTCTG -3'
(R):5'- ATACCCCTGCAACTGAACTG -3'

Posted On

2014-04-24