Mutagenetix > Incidental Mutation

Incidental Mutation 'R9233:Dyrk1a'

700391

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9233 (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 94466913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 156 (M156V)

Ref Sequence

ENSEMBL: ENSMUSP00000023614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023614] [ENSMUST00000119878] [ENSMUST00000122284] [ENSMUST00000139250] [ENSMUST00000155791]

AlphaFold

Q61214

Predicted Effect

probably benign
Transcript: ENSMUST00000023614
AA Change: M156V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000023614
Gene: ENSMUSG00000022897
AA Change: M156V

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: ENSMUST00000119878
AA Change: M156V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113660
Gene: ENSMUSG00000022897
AA Change: M156V

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: M118V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112853
Gene: ENSMUSG00000022897
AA Change: M118V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000139250

Predicted Effect

probably benign
Transcript: ENSMUST00000155791
AA Change: M156V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000119669
Gene: ENSMUSG00000022897
AA Change: M156V

Domain	Start	End	E-Value	Type
PDB:3ANR\|D	126	181	6e-21	PDB
SCOP:d1howa_	147	179	4e-7	SMART
Blast:S_TKc	159	181	5e-6	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	T	11: 110,082,496 (GRCm39)	T1159K	probably benign	Het
Acap1	A	G	11: 69,775,484 (GRCm39)	V479A	probably benign	Het
Actl11	A	G	9: 107,807,900 (GRCm39)	E741G	possibly damaging	Het
Anp32b	A	T	4: 46,463,909 (GRCm39)	I103F	probably damaging	Het
Ap4m1	C	T	5: 138,176,653 (GRCm39)	R418*	probably null	Het
Asic3	G	A	5: 24,618,837 (GRCm39)	R43H	probably damaging	Het
Bsn	A	G	9: 107,994,289 (GRCm39)	V662A	probably benign	Het
Cacna1a	C	T	8: 85,271,283 (GRCm39)	R479C	probably damaging	Het
Chchd3	A	T	6: 32,780,845 (GRCm39)	C214S	probably damaging	Het
Cspg4b	A	T	13: 113,502,754 (GRCm39)	Y100F		Het
Dock9	T	A	14: 121,820,781 (GRCm39)	T1538S	probably benign	Het
Dzip1	T	C	14: 119,124,635 (GRCm39)	Q546R	probably benign	Het
Eef2	T	C	10: 81,014,668 (GRCm39)	V185A	probably benign	Het
Etv4	A	C	11: 101,662,532 (GRCm39)	V314G	probably damaging	Het
F5	T	A	1: 164,047,020 (GRCm39)	I2160N	probably damaging	Het
Fbp2	A	T	13: 62,989,622 (GRCm39)	V228E	possibly damaging	Het
Fcgbpl1	A	G	7: 27,839,519 (GRCm39)	Y444C	possibly damaging	Het
Fhip2a	T	A	19: 57,369,098 (GRCm39)	F360L	probably damaging	Het
Gcc1	A	G	6: 28,418,710 (GRCm39)	L541P	probably damaging	Het
Gemin4	A	G	11: 76,103,942 (GRCm39)	I273T	possibly damaging	Het
Gm32742	T	C	9: 51,056,387 (GRCm39)	K1193E	possibly damaging	Het
Gmps	C	T	3: 63,924,133 (GRCm39)	P687L	probably damaging	Het
Gpr162	A	G	6: 124,836,014 (GRCm39)	L462P	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hspa12b	T	C	2: 130,976,036 (GRCm39)	Y13H	probably damaging	Het
Kcnh8	A	C	17: 53,285,168 (GRCm39)	E1046A	probably damaging	Het
Kcnk12	T	A	17: 88,053,538 (GRCm39)	T375S	probably benign	Het
Kdm4a	A	G	4: 118,004,193 (GRCm39)		probably null	Het
Klhl5	G	T	5: 65,300,673 (GRCm39)	V219L	possibly damaging	Het
Kpna1	A	T	16: 35,853,793 (GRCm39)	E474D	probably damaging	Het
Lama5	A	T	2: 179,840,502 (GRCm39)	Y632*	probably null	Het
Lias	A	G	5: 65,551,331 (GRCm39)	N88S	probably benign	Het
Mei1	C	T	15: 81,973,752 (GRCm39)	R80C		Het
Mical2	T	G	7: 111,981,399 (GRCm39)	S458A	probably benign	Het
Mrps33	A	G	6: 39,782,447 (GRCm39)	S25P	probably benign	Het
Mttp	T	A	3: 137,822,280 (GRCm39)	D169V	probably damaging	Het
Npdc1	A	G	2: 25,296,329 (GRCm39)	E72G	probably damaging	Het
Nsrp1	G	A	11: 76,937,036 (GRCm39)	R387W	probably benign	Het
Pcnx4	A	G	12: 72,603,587 (GRCm39)	T503A	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pigu	C	T	2: 155,178,610 (GRCm39)	V83I	possibly damaging	Het
Ppcs	G	A	4: 119,279,397 (GRCm39)	R52*	probably null	Het
Rbm33	A	G	5: 28,544,239 (GRCm39)	E165G	probably benign	Het
Rnf5	A	T	17: 34,822,326 (GRCm39)	V41E	possibly damaging	Het
Ror2	T	C	13: 53,265,590 (GRCm39)	T501A	probably benign	Het
Rps17	T	G	7: 80,993,497 (GRCm39)	M105L	probably benign	Het
Ryr2	A	T	13: 11,610,772 (GRCm39)	M4018K	possibly damaging	Het
Scarf1	A	G	11: 75,416,720 (GRCm39)	M721V	probably benign	Het
Scgb1b30	A	G	7: 33,799,184 (GRCm39)	T39A	probably damaging	Het
Selenoo	T	C	15: 88,984,044 (GRCm39)	V620A	probably damaging	Het
Slfn8	A	C	11: 82,894,422 (GRCm39)	I739R	probably damaging	Het
Smc6	A	G	12: 11,359,291 (GRCm39)	T972A	probably benign	Het
Spred1	G	A	2: 117,002,644 (GRCm39)	R221H	unknown	Het
Stag1	T	A	9: 100,812,024 (GRCm39)	M834K	probably benign	Het
Taf1a	T	C	1: 183,181,878 (GRCm39)	I177T	possibly damaging	Het
Tcam1	G	A	11: 106,175,018 (GRCm39)	D158N	probably benign	Het
Tcirg1	G	T	19: 3,952,543 (GRCm39)	T275K	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tor1b	A	C	2: 30,844,015 (GRCm39)	I151L	probably benign	Het
Trappc12	T	A	12: 28,772,414 (GRCm39)	Q471L	possibly damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Ugt2a2	G	A	5: 87,613,272 (GRCm39)	P288S	probably damaging	Het
Vmn1r157	T	C	7: 22,461,381 (GRCm39)	L87P	probably damaging	Het
Vmn1r188	A	G	13: 22,272,399 (GRCm39)	R118G	probably benign	Het
Vps13d	G	A	4: 144,879,344 (GRCm39)	T1493I		Het
Xrra1	T	G	7: 99,516,574 (GRCm39)	M6R	probably benign	Het
Zfp142	T	C	1: 74,610,288 (GRCm39)	E1169G	probably benign	Het
Zfp738	G	T	13: 67,819,017 (GRCm39)	R325S	possibly damaging	Het
Zmym4	A	G	4: 126,776,310 (GRCm39)	M1209T	probably 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
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
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'- ACATCTGCAGTATAGCGCTACATTTC -3'
(R):5'- ATCAATGCTGTGCTCTGGGG -3'

Sequencing Primer
(F):5'- ATTCAGATATCAACTGTTGAAGGTC -3'
(R):5'- GGACAGGAAGGAGACACCG -3'

Posted On

2022-02-07