Mutagenetix > Incidental Mutation

Incidental Mutation 'R8769:Dyrk4'

664288

Institutional Source

Beutler Lab

Gene Symbol

Dyrk4

Ensembl Gene

ENSMUSG00000030345

Gene Name

dual-specificity tyrosine phosphorylation regulated kinase 4

Synonyms

Dyrk4b, Dyrk4a

MMRRC Submission

068624-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126852983-126898802 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126857208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 490 (D490E)

Ref Sequence

ENSEMBL: ENSMUSP00000077606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078521] [ENSMUST00000171945]

AlphaFold

Q8BI55

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078521
AA Change: D490E

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077606
Gene: ENSMUSG00000030345
AA Change: D490E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171945

SMART Domains

Protein: ENSMUSP00000128180
Gene: ENSMUSG00000030345

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	59	2.8e-14	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (57/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	T	A	2: 68,446,589 (GRCm39)	N289K	unknown	Het
Adgrl2	T	C	3: 148,522,917 (GRCm39)	I436V		Het
Agbl3	C	T	6: 34,834,549 (GRCm39)	S911L	probably damaging	Het
Ampd2	C	T	3: 107,982,613 (GRCm39)	M714I	probably damaging	Het
Asb6	T	C	2: 30,718,143 (GRCm39)	D19G	possibly damaging	Het
Atosa	C	A	9: 74,933,107 (GRCm39)	L1025I	probably damaging	Het
Bbx	T	C	16: 50,061,227 (GRCm39)	Q298R	probably damaging	Het
Bcl9l	T	A	9: 44,420,263 (GRCm39)	M1223K	probably benign	Het
Ccr3	T	A	9: 123,829,096 (GRCm39)	F144I	possibly damaging	Het
Cfap74	T	A	4: 155,503,105 (GRCm39)	F32L		Het
Clhc1	G	A	11: 29,511,401 (GRCm39)	E293K	probably damaging	Het
Col22a1	A	T	15: 71,878,571 (GRCm39)	D195E	probably benign	Het
Cttnbp2	T	A	6: 18,376,003 (GRCm39)	D1512V	probably damaging	Het
Cul9	T	C	17: 46,832,828 (GRCm39)	T1372A	possibly damaging	Het
E4f1	C	T	17: 24,663,574 (GRCm39)	V626M	probably damaging	Het
Edc3	C	T	9: 57,634,678 (GRCm39)	R232C	probably damaging	Het
Eppk1	A	G	15: 75,994,895 (GRCm39)	I662T	probably benign	Het
G3bp2	C	T	5: 92,231,356 (GRCm39)		probably benign	Het
Grik3	T	C	4: 125,550,166 (GRCm39)	L397P	probably damaging	Het
Hectd4	A	G	5: 121,419,936 (GRCm39)	N627S	possibly damaging	Het
Hecw2	C	T	1: 53,952,507 (GRCm39)	V909I	probably benign	Het
Hsd17b12	A	T	2: 93,945,397 (GRCm39)	M75K	probably damaging	Het
Htt	C	T	5: 34,977,633 (GRCm39)	T809I	probably benign	Het
Itih1	A	G	14: 30,655,381 (GRCm39)	S609P	probably damaging	Het
Klk1b9	T	A	7: 43,629,666 (GRCm39)	C234S	probably damaging	Het
Lrrc37a	A	G	11: 103,389,536 (GRCm39)	L1963P	probably benign	Het
Lypd3	C	A	7: 24,337,932 (GRCm39)	H99Q	probably damaging	Het
Mdn1	C	A	4: 32,751,390 (GRCm39)	H4593Q	probably damaging	Het
Mroh1	A	G	15: 76,297,126 (GRCm39)	S325G	probably benign	Het
Muc5ac	G	A	7: 141,372,609 (GRCm39)	G3452R	probably damaging	Het
Myrfl	A	T	10: 116,612,696 (GRCm39)	D884E	probably damaging	Het
Nbeal1	T	A	1: 60,274,370 (GRCm39)	H260Q	probably damaging	Het
Ngef	A	G	1: 87,408,883 (GRCm39)	L519P	probably damaging	Het
Or5ac20	A	G	16: 59,104,194 (GRCm39)	L222P	probably damaging	Het
Or5b102	T	A	19: 13,041,307 (GRCm39)	C177*	probably null	Het
Or5w1b	A	T	2: 87,475,960 (GRCm39)	F169Y	probably damaging	Het
Pcca	A	G	14: 122,854,260 (GRCm39)	K184R	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp6r1	A	T	7: 4,644,289 (GRCm39)	V379E	probably benign	Het
Prkca	A	T	11: 107,842,286 (GRCm39)		probably benign	Het
Prune2	A	G	19: 17,100,442 (GRCm39)	E1982G	probably damaging	Het
Rad21l	T	C	2: 151,509,838 (GRCm39)	T88A	probably benign	Het
Rpgrip1l	T	C	8: 91,979,212 (GRCm39)		probably benign	Het
Sec62	T	C	3: 30,864,177 (GRCm39)		probably null	Het
Slc22a19	C	T	19: 7,670,086 (GRCm39)	R256Q	possibly damaging	Het
Slc43a2	G	T	11: 75,434,192 (GRCm39)		probably null	Het
Smarcd3	T	C	5: 24,803,792 (GRCm39)	M30V	probably benign	Het
Tes3-ps	T	A	13: 49,647,356 (GRCm39)	D77E	probably benign	Het
Thbs3	G	A	3: 89,131,937 (GRCm39)		probably benign	Het
Trpm2	A	T	10: 77,768,128 (GRCm39)	N790K	probably benign	Het
Ttc13	A	T	8: 125,405,816 (GRCm39)	N492K	possibly damaging	Het
Ttc39c	T	C	18: 12,828,545 (GRCm39)	L235P	probably damaging	Het
Tyms	T	C	5: 30,278,360 (GRCm39)		probably benign	Het
Whamm	A	T	7: 81,234,933 (GRCm39)	K333*	probably null	Het
Ydjc	A	G	16: 16,968,732 (GRCm39)	I224V	probably benign	Het
Zc3hav1	C	T	6: 38,313,416 (GRCm39)	D210N	possibly damaging	Het
Zfp735	G	A	11: 73,581,127 (GRCm39)	E55K	possibly damaging	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
R1645:Dyrk4	UTSW	6	126,871,756 (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
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'- ACAATCTGTTGGAAAGCTTGGG -3'
(R):5'- CAGCAGGTTTGAGTGGACAG -3'

Sequencing Primer
(F):5'- AATCTGTTGGAAAGCTTGGGATTAAG -3'
(R):5'- CAGGTTTGAGTGGACAGCTAGG -3'

Posted On

2021-03-08