Mutagenetix > Incidental Mutation

Incidental Mutation 'R5656:Melk'

442309

Institutional Source

Beutler Lab

Gene Symbol

Melk

Ensembl Gene

ENSMUSG00000035683

Gene Name

maternal embryonic leucine zipper kinase

Synonyms

MPK38

MMRRC Submission

043302-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5656 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44300876-44364675 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44312237 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 183 (K183R)

Ref Sequence

ENSEMBL: ENSMUSP00000043806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045607] [ENSMUST00000125708] [ENSMUST00000137703]

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

possibly damaging
Transcript: ENSMUST00000045607
AA Change: K183R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043806
Gene: ENSMUSG00000035683
AA Change: K183R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118668

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125708
AA Change: K112R

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118359
Gene: ENSMUSG00000035683
AA Change: K112R

Domain	Start	End	E-Value	Type
Pfam:Pkinase	11	91	1.9e-15	PFAM
Pfam:Pkinase_Tyr	11	97	4.3e-10	PFAM
Pfam:Pkinase	88	134	6.7e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137703
AA Change: K135R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000120242
Gene: ENSMUSG00000035683
AA Change: K135R

Domain	Start	End	E-Value	Type
Pfam:Pkinase	11	88	7.7e-15	PFAM
Pfam:Pkinase_Tyr	11	88	3.1e-9	PFAM
Pfam:Pkinase_Tyr	87	212	1.5e-15	PFAM
Pfam:Pkinase	87	215	3.4e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137759

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 105,709,512 (GRCm38)	S139G	probably benign	Het
Adrb3	T	C	8: 27,227,377 (GRCm38)	D348G	probably damaging	Het
Atg2b	A	G	12: 105,621,328 (GRCm38)	V1959A	probably benign	Het
Bicral	G	A	17: 46,808,369 (GRCm38)	T742M	probably damaging	Het
Bub1b	T	A	2: 118,605,431 (GRCm38)	I60N	probably damaging	Het
Ccdc162	A	G	10: 41,569,934 (GRCm38)	V414A	probably benign	Het
Cd22	T	G	7: 30,869,773 (GRCm38)	Y612S	probably damaging	Het
Cd68	T	A	11: 69,664,421 (GRCm38)	I320F	probably damaging	Het
Clca3a2	A	T	3: 144,797,632 (GRCm38)	N852K	probably benign	Het
Cpa6	T	A	1: 10,329,514 (GRCm38)	H363L	probably benign	Het
Ddx18	A	T	1: 121,561,358 (GRCm38)	L320Q	probably damaging	Het
Dnah5	A	G	15: 28,421,064 (GRCm38)	D3849G	probably benign	Het
Eci1	T	A	17: 24,437,309 (GRCm38)	N164K	probably damaging	Het
Efs	T	C	14: 54,917,127 (GRCm38)	T552A	probably damaging	Het
Fbp1	C	A	13: 62,875,196 (GRCm38)	V96L	probably damaging	Het
Gtf3c1	T	A	7: 125,662,654 (GRCm38)	N1139I	probably benign	Het
Gucy1b2	T	C	14: 62,422,981 (GRCm38)	Y152C	probably damaging	Het
Gxylt1	A	T	15: 93,245,661 (GRCm38)	L362Q	probably damaging	Het
Iqcd	A	G	5: 120,605,126 (GRCm38)		probably null	Het
Klhl41	T	A	2: 69,683,532 (GRCm38)	I585N	possibly damaging	Het
Map6	A	G	7: 99,336,298 (GRCm38)	K470E	probably damaging	Het
Mast3	T	C	8: 70,786,221 (GRCm38)	T496A	probably damaging	Het
Mbd6	A	T	10: 127,285,286 (GRCm38)		probably benign	Het
Mta1	T	C	12: 113,123,139 (GRCm38)	V152A	probably damaging	Het
Naa35	G	A	13: 59,622,866 (GRCm38)		probably benign	Het
Nav3	A	C	10: 109,764,633 (GRCm38)	S1378A	probably damaging	Het
Ncapd3	T	A	9: 27,051,645 (GRCm38)	D415E	possibly damaging	Het
Nlrp4f	G	A	13: 65,190,871 (GRCm38)	R651*	probably null	Het
Olfr1480	A	G	19: 13,530,380 (GRCm38)	T280A	probably benign	Het
Olfr397	T	A	11: 73,964,710 (GRCm38)	M34K	probably damaging	Het
Olfr497	A	G	7: 108,422,618 (GRCm38)	I16V	probably benign	Het
P2rx7	A	T	5: 122,673,717 (GRCm38)	R364W	probably damaging	Het
Phactr2	T	C	10: 13,388,703 (GRCm38)	D2G	probably benign	Het
Phc3	G	T	3: 30,965,866 (GRCm38)	S28R	probably damaging	Het
Ppfia1	A	T	7: 144,519,974 (GRCm38)		probably null	Het
Prdm10	C	T	9: 31,353,417 (GRCm38)	T667M	probably benign	Het
Pwwp2b	T	A	7: 139,255,971 (GRCm38)	S443T	possibly damaging	Het
Pzp	T	C	6: 128,490,072 (GRCm38)	T1113A	probably damaging	Het
Rapgef6	A	G	11: 54,636,136 (GRCm38)	E551G	possibly damaging	Het
Sec23ip	A	G	7: 128,776,784 (GRCm38)	Y774C	probably damaging	Het
Setdb2	T	C	14: 59,419,118 (GRCm38)	D266G	probably damaging	Het
Shank1	T	C	7: 44,352,886 (GRCm38)	V1343A	probably benign	Het
Slf2	T	A	19: 44,973,235 (GRCm38)	D1064E	probably benign	Het
Slu7	A	G	11: 43,443,418 (GRCm38)	K424E	probably benign	Het
Smg1	A	T	7: 118,154,664 (GRCm38)		probably benign	Het
Sptlc2	A	T	12: 87,346,761 (GRCm38)	L264Q	probably damaging	Het
Sra1	A	G	18: 36,678,407 (GRCm38)	S93P	probably damaging	Het
Sult1c1	T	C	17: 53,964,652 (GRCm38)	E169G	probably benign	Het
Sv2a	A	G	3: 96,185,572 (GRCm38)	D196G	probably damaging	Het
Tbc1d22b	A	G	17: 29,594,780 (GRCm38)	I362M	probably damaging	Het
Tenm3	T	C	8: 48,228,762 (GRCm38)	D2611G	probably damaging	Het
Tmem43	T	C	6: 91,480,708 (GRCm38)	F191L	probably benign	Het
Trbv13-2	T	A	6: 41,121,694 (GRCm38)	Y68N	probably benign	Het
Ttn	T	G	2: 76,774,654 (GRCm38)	D18312A	possibly damaging	Het
Ublcp1	A	G	11: 44,465,606 (GRCm38)	V95A	probably damaging	Het
Usp17ld	A	G	7: 103,250,840 (GRCm38)	V295A	probably damaging	Het
Vmn1r29	T	A	6: 58,308,167 (GRCm38)	L291M	possibly damaging	Het
Vsig10l	C	T	7: 43,464,151 (GRCm38)	R176*	probably null	Het
Zbtb46	A	G	2: 181,423,417 (GRCm38)		probably null	Het
Zfp644	A	G	5: 106,637,982 (GRCm38)	V233A	probably benign	Het

Other mutations in Melk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Melk	APN	4	44,347,262 (GRCm38)	missense	probably benign	0.05
IGL01367:Melk	APN	4	44,332,907 (GRCm38)	missense	possibly damaging	0.62
IGL01865:Melk	APN	4	44,344,988 (GRCm38)	missense	probably benign	0.00
IGL02801:Melk	APN	4	44,360,930 (GRCm38)	missense	probably damaging	0.99
R0037:Melk	UTSW	4	44,360,864 (GRCm38)	splice site	probably benign
R0433:Melk	UTSW	4	44,340,614 (GRCm38)	splice site	probably benign
R0570:Melk	UTSW	4	44,308,906 (GRCm38)	missense	probably damaging	1.00
R0786:Melk	UTSW	4	44,303,649 (GRCm38)	missense	unknown
R1483:Melk	UTSW	4	44,308,937 (GRCm38)	missense	probably damaging	1.00
R2042:Melk	UTSW	4	44,309,051 (GRCm38)	critical splice donor site	probably null
R3831:Melk	UTSW	4	44,345,021 (GRCm38)	missense	probably benign	0.05
R5060:Melk	UTSW	4	44,350,959 (GRCm38)	missense	probably benign	0.15
R5236:Melk	UTSW	4	44,344,959 (GRCm38)	missense	probably benign
R5269:Melk	UTSW	4	44,363,730 (GRCm38)	missense	probably damaging	1.00
R5357:Melk	UTSW	4	44,363,730 (GRCm38)	missense	probably damaging	1.00
R5358:Melk	UTSW	4	44,363,730 (GRCm38)	missense	probably damaging	1.00
R5360:Melk	UTSW	4	44,363,730 (GRCm38)	missense	probably damaging	1.00
R5430:Melk	UTSW	4	44,309,033 (GRCm38)	missense	probably damaging	1.00
R5576:Melk	UTSW	4	44,312,255 (GRCm38)	missense	probably null	1.00
R5738:Melk	UTSW	4	44,310,333 (GRCm38)	missense	probably damaging	1.00
R5972:Melk	UTSW	4	44,351,007 (GRCm38)	missense	probably benign	0.01
R6265:Melk	UTSW	4	44,318,109 (GRCm38)	missense	probably damaging	1.00
R6340:Melk	UTSW	4	44,340,633 (GRCm38)	missense	probably damaging	1.00
R7202:Melk	UTSW	4	44,351,106 (GRCm38)	missense	probably benign
R7242:Melk	UTSW	4	44,360,885 (GRCm38)	missense	probably damaging	1.00
R7328:Melk	UTSW	4	44,332,931 (GRCm38)	missense	probably benign
R7608:Melk	UTSW	4	44,325,571 (GRCm38)	splice site	probably null
R8053:Melk	UTSW	4	44,318,109 (GRCm38)	missense	probably damaging	1.00
R8185:Melk	UTSW	4	44,360,965 (GRCm38)	missense	probably benign	0.14
R8356:Melk	UTSW	4	44,312,191 (GRCm38)	missense	possibly damaging	0.75
R8456:Melk	UTSW	4	44,312,191 (GRCm38)	missense	possibly damaging	0.75
R9365:Melk	UTSW	4	44,340,693 (GRCm38)	missense	probably null
R9749:Melk	UTSW	4	44,307,067 (GRCm38)	missense	possibly damaging	0.63
X0020:Melk	UTSW	4	44,349,876 (GRCm38)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- GGCAGAATTCCTCACTTTGGGG -3'
(R):5'- TGACTGAACTAAGACACAAGTGC -3'

Sequencing Primer
(F):5'- GGCTGAGTCTGACCTTGAACTC -3'
(R):5'- TTTAATCCCAGCACTCAGGAGG -3'

Posted On

2016-11-09