Mutagenetix > Incidental Mutation

Incidental Mutation 'R3831:Melk'

273983

Institutional Source

Beutler Lab

Gene Symbol

Melk

Ensembl Gene

ENSMUSG00000035683

Gene Name

maternal embryonic leucine zipper kinase

Synonyms

MPK38

MMRRC Submission

040777-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3831 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44300876-44364301 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44345021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 384 (Q384K)

Ref Sequence

ENSEMBL: ENSMUSP00000043806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045607]

AlphaFold

Q61846

PDB Structure

The crystal structure of mouse PK38 [X-RAY DIFFRACTION]
The crystal structure of MPK38 in complex with OTSSP167, an orally- administrative MELK selective inhibitor [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000045607
AA Change: Q384K

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000043806
Gene: ENSMUSG00000035683
AA Change: Q384K

Domain	Start	End	E-Value	Type
S_TKc	11	263	2.64e-105	SMART
low complexity region	313	325	N/A	INTRINSIC
Pfam:KA1	599	643	2.2e-16	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an allele that produces a kinase-dead protein exhibit altered pancreatic regeneration following injury. [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
4930563M21Rik	T	C	9: 55,880,992 (GRCm39)	T527A	unknown	Het
Bcat1	T	A	6: 144,955,834 (GRCm39)	D349V	probably damaging	Het
Cacna1c	A	G	6: 118,581,424 (GRCm39)	S1727P	probably benign	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Cemip2	T	G	19: 21,825,315 (GRCm39)	S1204R	probably damaging	Het
Cibar2	T	A	8: 120,901,633 (GRCm39)	Y24F	probably damaging	Het
Cyb5d2	G	T	11: 72,686,349 (GRCm39)	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Dpp9	A	T	17: 56,506,113 (GRCm39)	F429I	possibly damaging	Het
Frmd4b	T	A	6: 97,389,486 (GRCm39)	K73*	probably null	Het
Hao1	A	T	2: 134,364,925 (GRCm39)	V234D	probably damaging	Het
Hkdc1	T	C	10: 62,235,991 (GRCm39)	Y517C	probably benign	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Inpp5j	T	C	11: 3,450,229 (GRCm39)	D228G	probably damaging	Het
Itih5	A	G	2: 10,256,081 (GRCm39)	D849G	possibly damaging	Het
Itpkb	T	C	1: 180,161,260 (GRCm39)	V462A	probably benign	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Kremen1	G	GGGC	11: 5,151,794 (GRCm39)		probably benign	Het
Lzic	G	C	4: 149,573,185 (GRCm39)	E112D	probably null	Het
Mageh1	A	T	X: 151,820,004 (GRCm39)	W111R	probably damaging	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Mapt	A	T	11: 104,177,961 (GRCm39)	Q38L	possibly damaging	Het
Med12	C	A	X: 100,339,498 (GRCm39)	P2037Q	possibly damaging	Het
Med22	A	G	2: 26,800,379 (GRCm39)	S17P	probably damaging	Het
Morc2b	C	T	17: 33,356,233 (GRCm39)	S513N	probably benign	Het
Nap1l3	A	G	X: 121,305,995 (GRCm39)	V241A	possibly damaging	Het
Or2t45	T	A	11: 58,669,571 (GRCm39)		probably null	Het
Or56a4	A	G	7: 104,806,589 (GRCm39)	F100S	probably damaging	Het
Or9e1	T	G	11: 58,732,686 (GRCm39)	F249V	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pgc	C	A	17: 48,040,236 (GRCm39)	F93L	probably null	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,616,397 (GRCm39)	D166G	probably benign	Het
Rgs5	A	G	1: 169,504,470 (GRCm39)	Y40C	probably benign	Het
Rsad1	A	G	11: 94,434,130 (GRCm39)	V366A	probably benign	Het
S100a10	T	C	3: 93,471,680 (GRCm39)	V88A	probably damaging	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Scn7a	A	G	2: 66,528,028 (GRCm39)	S821P	probably damaging	Het
Sco1	T	C	11: 66,944,605 (GRCm39)	V76A	probably damaging	Het
Selp	T	A	1: 163,959,849 (GRCm39)	C368*	probably null	Het
Sema3e	T	A	5: 14,276,496 (GRCm39)	C294S	probably damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Smarca5	A	T	8: 81,455,123 (GRCm39)	N199K	probably damaging	Het
Sorbs2	A	T	8: 46,248,132 (GRCm39)	D442V	probably damaging	Het
Specc1	T	A	11: 62,008,793 (GRCm39)	I183N	probably damaging	Het
Tcerg1	G	T	18: 42,701,554 (GRCm39)	R872L	probably damaging	Het
Tekt1	T	C	11: 72,245,645 (GRCm39)	N170S	probably benign	Het
Thsd1	T	G	8: 22,733,132 (GRCm39)	S60A	possibly damaging	Het
Usp24	T	C	4: 106,219,209 (GRCm39)		probably null	Het
Usp28	A	G	9: 48,946,938 (GRCm39)	T505A	probably benign	Het
Zcchc17	T	C	4: 130,232,317 (GRCm39)	D62G	probably benign	Het
Zfp445	T	G	9: 122,681,541 (GRCm39)	E800A	probably damaging	Het
Zranb1	C	T	7: 132,584,505 (GRCm39)	A591V	probably damaging	Het

Other mutations in Melk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Melk	APN	4	44,347,262 (GRCm39)	missense	probably benign	0.05
IGL01367:Melk	APN	4	44,332,907 (GRCm39)	missense	possibly damaging	0.62
IGL01865:Melk	APN	4	44,344,988 (GRCm39)	missense	probably benign	0.00
IGL02801:Melk	APN	4	44,360,930 (GRCm39)	missense	probably damaging	0.99
R0037:Melk	UTSW	4	44,360,864 (GRCm39)	splice site	probably benign
R0433:Melk	UTSW	4	44,340,614 (GRCm39)	splice site	probably benign
R0570:Melk	UTSW	4	44,308,906 (GRCm39)	missense	probably damaging	1.00
R0786:Melk	UTSW	4	44,303,649 (GRCm39)	missense	unknown
R1483:Melk	UTSW	4	44,308,937 (GRCm39)	missense	probably damaging	1.00
R2042:Melk	UTSW	4	44,309,051 (GRCm39)	critical splice donor site	probably null
R5060:Melk	UTSW	4	44,350,959 (GRCm39)	missense	probably benign	0.15
R5236:Melk	UTSW	4	44,344,959 (GRCm39)	missense	probably benign
R5269:Melk	UTSW	4	44,363,730 (GRCm39)	missense	probably damaging	1.00
R5357:Melk	UTSW	4	44,363,730 (GRCm39)	missense	probably damaging	1.00
R5358:Melk	UTSW	4	44,363,730 (GRCm39)	missense	probably damaging	1.00
R5360:Melk	UTSW	4	44,363,730 (GRCm39)	missense	probably damaging	1.00
R5430:Melk	UTSW	4	44,309,033 (GRCm39)	missense	probably damaging	1.00
R5576:Melk	UTSW	4	44,312,255 (GRCm39)	missense	probably null	1.00
R5656:Melk	UTSW	4	44,312,237 (GRCm39)	missense	possibly damaging	0.95
R5738:Melk	UTSW	4	44,310,333 (GRCm39)	missense	probably damaging	1.00
R5972:Melk	UTSW	4	44,351,007 (GRCm39)	missense	probably benign	0.01
R6265:Melk	UTSW	4	44,318,109 (GRCm39)	missense	probably damaging	1.00
R6340:Melk	UTSW	4	44,340,633 (GRCm39)	missense	probably damaging	1.00
R7202:Melk	UTSW	4	44,351,106 (GRCm39)	missense	probably benign
R7242:Melk	UTSW	4	44,360,885 (GRCm39)	missense	probably damaging	1.00
R7328:Melk	UTSW	4	44,332,931 (GRCm39)	missense	probably benign
R7608:Melk	UTSW	4	44,325,571 (GRCm39)	splice site	probably null
R8053:Melk	UTSW	4	44,318,109 (GRCm39)	missense	probably damaging	1.00
R8185:Melk	UTSW	4	44,360,965 (GRCm39)	missense	probably benign	0.14
R8356:Melk	UTSW	4	44,312,191 (GRCm39)	missense	possibly damaging	0.75
R8456:Melk	UTSW	4	44,312,191 (GRCm39)	missense	possibly damaging	0.75
R9365:Melk	UTSW	4	44,340,693 (GRCm39)	missense	probably null
R9749:Melk	UTSW	4	44,307,067 (GRCm39)	missense	possibly damaging	0.63
X0020:Melk	UTSW	4	44,349,876 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- GCTGCTGTAAAATTGGAATCCCC -3'
(R):5'- CCAGTTCATCAAAGAGGGCAG -3'

Sequencing Primer
(F):5'- GGAATCCCCATGTTGTTATTGCTAAC -3'
(R):5'- CAGAGGCAGTGAAGTGCTCC -3'

Posted On

2015-04-02