Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Dyrk1b'

345436

Institutional Source

Beutler Lab

Gene Symbol

Dyrk1b

Ensembl Gene

ENSMUSG00000002409

Gene Name

dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1b

Synonyms

Mirk

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28179469-28187294 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28182431 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 105 (L105P)

Ref Sequence

ENSEMBL: ENSMUSP00000133431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042405] [ENSMUST00000085901] [ENSMUST00000172467] [ENSMUST00000172761]

AlphaFold

Q9Z188

Predicted Effect

probably benign
Transcript: ENSMUST00000042405

SMART Domains

Protein: ENSMUSP00000037613
Gene: ENSMUSG00000046865

Domain	Start	End	E-Value	Type
low complexity region	8	85	N/A	INTRINSIC
Fibrillarin	94	321	9.92e-176	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000085901
AA Change: L45P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000083064
Gene: ENSMUSG00000002409
AA Change: L45P

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	22	41	N/A	INTRINSIC
S_TKc	111	431	3.75e-78	SMART
low complexity region	438	454	N/A	INTRINSIC
low complexity region	460	477	N/A	INTRINSIC
low complexity region	542	561	N/A	INTRINSIC
low complexity region	571	591	N/A	INTRINSIC
low complexity region	597	615	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172467
AA Change: L105P

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

SMART Domains

Protein: ENSMUSP00000133431
Gene: ENSMUSG00000002409
AA Change: L105P

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	22	41	N/A	INTRINSIC
S_TKc	111	431	3.75e-78	SMART
low complexity region	438	454	N/A	INTRINSIC
low complexity region	460	477	N/A	INTRINSIC
low complexity region	542	561	N/A	INTRINSIC
low complexity region	571	591	N/A	INTRINSIC
low complexity region	597	615	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172761
AA Change: L45P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133719
Gene: ENSMUSG00000002409
AA Change: L45P

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	22	41	N/A	INTRINSIC
S_TKc	111	391	1.52e-78	SMART
low complexity region	398	414	N/A	INTRINSIC
low complexity region	420	437	N/A	INTRINSIC
low complexity region	502	521	N/A	INTRINSIC
low complexity region	531	551	N/A	INTRINSIC
low complexity region	557	575	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173223
AA Change: L45P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133364
Gene: ENSMUSG00000002409
AA Change: L45P

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	22	41	N/A	INTRINSIC
S_TKc	111	431	3.75e-78	SMART
low complexity region	438	454	N/A	INTRINSIC
low complexity region	460	477	N/A	INTRINSIC
low complexity region	542	561	N/A	INTRINSIC
low complexity region	571	591	N/A	INTRINSIC
low complexity region	597	615	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208259

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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 a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,255,403	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,471,668	R677G	probably benign	Het
Apc	T	A	18: 34,317,987	Y2611*	probably null	Het
Apold1	A	G	6: 134,984,069	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,078,802	I325V	probably benign	Het
Cab39	A	G	1: 85,848,329	Y249C	probably damaging	Het
Cd22	T	A	7: 30,875,900	H239L	probably damaging	Het
Chrna7	A	G	7: 63,103,790	M327T	probably damaging	Het
Clock	T	C	5: 76,235,810	M499V	probably benign	Het
Clspn	A	G	4: 126,581,460	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819	P10S	probably damaging	Het
Col5a3	A	G	9: 20,774,559		probably null	Het
Coq6	T	C	12: 84,362,139	V30A	probably benign	Het
Csmd2	G	T	4: 127,988,128	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,718,047	P153S	probably benign	Het
Dock2	T	A	11: 34,239,536	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,634,548	G354C	probably damaging	Het
Epor	A	G	9: 21,961,859	S86P	probably benign	Het
Fam166b	T	C	4: 43,427,574	H250R	possibly damaging	Het
Gale	C	A	4: 135,967,837	S341*	probably null	Het
Galnt4	T	A	10: 99,109,493	V360E	probably damaging	Het
Gart	A	T	16: 91,622,945	C24*	probably null	Het
Gcnt2	G	T	13: 40,887,490	V42L	probably benign	Het
Herc6	A	G	6: 57,659,713	I805V	probably benign	Het
Ints12	T	A	3: 133,098,453	I67N	probably benign	Het
Irx1	C	A	13: 71,960,113	R150L	probably damaging	Het
Kif26b	A	G	1: 178,530,459	Y45C	unknown	Het
Krt35	T	C	11: 100,094,008	T275A	probably damaging	Het
Laptm5	G	T	4: 130,916,005		probably benign	Het
Lin7a	T	C	10: 107,412,166	S111P	unknown	Het
Med27	A	G	2: 29,524,458	D159G	probably damaging	Het
Msh2	A	G	17: 87,708,578	K546R	probably damaging	Het
Myo1a	A	T	10: 127,720,151		probably null	Het
Myo1c	T	C	11: 75,668,193	F604L	probably damaging	Het
Myrip	A	G	9: 120,464,784	K782E	probably damaging	Het
Ndc80	T	C	17: 71,521,068	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,455,252	D375G	probably damaging	Het
Olfr1380	T	C	11: 49,564,718	S266P	probably damaging	Het
Olfr676	A	G	7: 105,036,073	I292V	probably benign	Het
Padi3	T	C	4: 140,798,111	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,681,557	N367I	probably damaging	Het
Pdrg1	T	C	2: 153,012,390	I77V	probably benign	Het
Pfas	T	C	11: 68,991,069	E930G	probably benign	Het
Pik3cb	C	T	9: 99,061,764	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,994,276	V177E	probably damaging	Het
Prmt7	A	G	8: 106,250,329	S558G	possibly damaging	Het
Pspc1	A	C	14: 56,777,789		probably null	Het
Rilp	T	C	11: 75,512,760	S343P	probably benign	Het
Ror1	A	G	4: 100,407,910	M194V	probably damaging	Het
Rsu1	T	C	2: 13,170,004	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,433,926	N486S	probably damaging	Het
Sema6d	T	A	2: 124,654,231	I65N	probably damaging	Het
Slc5a11	A	G	7: 123,258,378	E230G	probably benign	Het
Spint1	T	C	2: 119,246,460	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,367,753	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,336,924	T271P	probably damaging	Het
Tie1	A	G	4: 118,472,634	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,617,332	Y375C	probably benign	Het
Tmem107	T	A	11: 69,071,448	M77K	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tns3	T	C	11: 8,531,747	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,779,521	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Ush2a	A	G	1: 188,911,647	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,156,456	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,062,007		probably null	Het
Zp3	A	T	5: 135,984,235	K168*	probably null	Het

Other mutations in Dyrk1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Dyrk1b	APN	7	28182676	missense	probably damaging	0.96
IGL01820:Dyrk1b	APN	7	28181600	utr 5 prime	probably benign
IGL03155:Dyrk1b	APN	7	28182687	missense	probably benign	0.25
R0280:Dyrk1b	UTSW	7	28184312	missense	probably damaging	1.00
R0323:Dyrk1b	UTSW	7	28185356	missense	probably benign	0.00
R0610:Dyrk1b	UTSW	7	28186634	missense	probably damaging	0.99
R0765:Dyrk1b	UTSW	7	28185711	intron	probably benign
R1858:Dyrk1b	UTSW	7	28182646	splice site	probably null
R2354:Dyrk1b	UTSW	7	28185372	missense	possibly damaging	0.79
R4655:Dyrk1b	UTSW	7	28185751	missense	probably damaging	0.97
R5201:Dyrk1b	UTSW	7	28185096	missense	probably damaging	1.00
R5357:Dyrk1b	UTSW	7	28185318	missense	possibly damaging	0.79
R5560:Dyrk1b	UTSW	7	28184253	missense	possibly damaging	0.53
R6171:Dyrk1b	UTSW	7	28186550	critical splice acceptor site	probably null
R6751:Dyrk1b	UTSW	7	28186709	missense	probably damaging	1.00
R6901:Dyrk1b	UTSW	7	28185117	missense	probably damaging	1.00
R6918:Dyrk1b	UTSW	7	28185925	missense	probably damaging	0.99
R7699:Dyrk1b	UTSW	7	28184312	missense	probably damaging	1.00
R7700:Dyrk1b	UTSW	7	28184312	missense	probably damaging	1.00
R8177:Dyrk1b	UTSW	7	28183176	missense	possibly damaging	0.86
R8271:Dyrk1b	UTSW	7	28182655	missense	probably benign	0.02
R9241:Dyrk1b	UTSW	7	28186633	missense	probably benign	0.00
R9582:Dyrk1b	UTSW	7	28182603	missense	probably damaging	0.99
R9644:Dyrk1b	UTSW	7	28182365	missense	probably damaging	0.99
R9701:Dyrk1b	UTSW	7	28186413	missense	probably damaging	1.00
X0060:Dyrk1b	UTSW	7	28183150	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CACACAGTGTGCTTGTGCTC -3'
(R):5'- TCGTCATCATAACCGTGGTTC -3'

Sequencing Primer
(F):5'- CACAGTGTGCTTGTGCTCTACAG -3'
(R):5'- TCATAACCGTGGTTCAGGAC -3'

Posted On

2015-09-25