Mutagenetix > Incidental Mutation

Incidental Mutation 'R8203:Dyrk4'

635765

Institutional Source

Beutler Lab

Gene Symbol

Dyrk4

Ensembl Gene

ENSMUSG00000030345

Gene Name

dual-specificity tyrosine phosphorylation regulated kinase 4

Synonyms

Dyrk4b, Dyrk4a

MMRRC Submission

067626-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8203 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126852983-126898802 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126871797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 157 (L157P)

Ref Sequence

ENSEMBL: ENSMUSP00000077606 (fasta)

Gene Model

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

AlphaFold

Q8BI55

Predicted Effect

probably damaging
Transcript: ENSMUST00000078521
AA Change: L157P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077606
Gene: ENSMUSG00000030345
AA Change: L157P

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (53/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,075,369 (GRCm39)	I148T	probably benign	Het
Agbl3	A	G	6: 34,776,414 (GRCm39)	T307A	probably damaging	Het
Ahsa1	A	G	12: 87,315,042 (GRCm39)	D65G	probably damaging	Het
Aicda	T	C	6: 122,538,076 (GRCm39)	V78A	possibly damaging	Het
Arhgef5	A	G	6: 43,257,579 (GRCm39)	D1282G	probably damaging	Het
Atf7ip	T	C	6: 136,583,781 (GRCm39)	S1271P	probably damaging	Het
Atrn	G	A	2: 130,802,469 (GRCm39)	D537N	probably benign	Het
Brd10	A	T	19: 29,693,443 (GRCm39)	S2017T	probably benign	Het
Cep170	T	A	1: 176,596,877 (GRCm39)	Q493H	probably benign	Het
Cltc	A	T	11: 86,594,986 (GRCm39)	Y1371N	possibly damaging	Het
Col12a1	T	C	9: 79,588,831 (GRCm39)	T1095A	possibly damaging	Het
Cxcr5	T	C	9: 44,425,451 (GRCm39)	M69V	probably benign	Het
Cyp2c69	A	T	19: 39,869,584 (GRCm39)	V145E	probably damaging	Het
Ddx3y	T	C	Y: 1,269,827 (GRCm39)	E185G	probably benign	Het
Dgke	G	A	11: 88,941,193 (GRCm39)	A330V	probably benign	Het
Ermard	T	A	17: 15,240,548 (GRCm39)	S337R	possibly damaging	Het
Etl4	A	T	2: 20,789,916 (GRCm39)	M805L	possibly damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Fmn1	T	A	2: 113,355,620 (GRCm39)	M785K	unknown	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gabrg3	G	A	7: 56,423,008 (GRCm39)	T230I	possibly damaging	Het
Gle1	A	G	2: 29,825,522 (GRCm39)	D4G	probably benign	Het
Gm5468	T	C	15: 25,414,527 (GRCm39)	S26P	noncoding transcript	Het
Igsf10	A	T	3: 59,236,254 (GRCm39)	L1309Q	probably benign	Het
Lipf	A	G	19: 33,944,283 (GRCm39)	K164R	probably benign	Het
Luc7l	C	A	17: 26,485,333 (GRCm39)	T111K	possibly damaging	Het
Masp2	A	G	4: 148,696,599 (GRCm39)	T399A	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naip1	T	C	13: 100,562,328 (GRCm39)	I946V	probably benign	Het
Neb	T	A	2: 52,039,259 (GRCm39)	K6927*	probably null	Het
Nipal4	A	T	11: 46,041,147 (GRCm39)	D349E	probably damaging	Het
Or12j2	A	T	7: 139,915,939 (GRCm39)	T55S	probably benign	Het
Or5al7	T	A	2: 85,992,844 (GRCm39)	I150F	probably benign	Het
Or7g22	A	G	9: 19,049,170 (GRCm39)	N294D	probably damaging	Het
Pdik1l	A	T	4: 134,006,676 (GRCm39)	H154Q	unknown	Het
Polr2m	T	G	9: 71,386,768 (GRCm39)	M338L	probably benign	Het
Rab3gap2	T	C	1: 184,999,376 (GRCm39)	L995P	probably damaging	Het
Rnf17	T	A	14: 56,705,179 (GRCm39)	H694Q	probably benign	Het
Sar1b	A	G	11: 51,670,524 (GRCm39)	K23E	probably benign	Het
Setd7	A	T	3: 51,437,519 (GRCm39)	Y245*	probably null	Het
Shpk	A	C	11: 73,104,904 (GRCm39)	D171A	probably benign	Het
Slc2a7	G	T	4: 150,243,015 (GRCm39)	E279*	probably null	Het
Slco4a1	T	C	2: 180,106,592 (GRCm39)	V258A	probably damaging	Het
Srcin1	G	T	11: 97,457,539 (GRCm39)	P62Q	probably damaging	Het
Tbc1d2	A	G	4: 46,606,476 (GRCm39)	F823S	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tdrd9	T	A	12: 111,992,064 (GRCm39)	V613E	probably damaging	Het
Tsc1	A	G	2: 28,563,007 (GRCm39)		probably null	Het
Ulk4	A	T	9: 120,997,274 (GRCm39)	M766K	probably damaging	Het
Wdr36	G	T	18: 32,985,136 (GRCm39)	G481*	probably null	Het
Yme1l1	G	A	2: 23,054,538 (GRCm39)	R119H	probably benign	Het
Zfp106	G	A	2: 120,349,559 (GRCm39)	T1644I	probably 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
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'- ATCCCACCGTGCATCAGTAC -3'
(R):5'- TCAGTGTGACCCAAGCTGTG -3'

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

Posted On

2020-07-13