Mutagenetix > Incidental Mutation

Incidental Mutation 'R9365:Melk'

708888

Institutional Source

Beutler Lab

Gene Symbol

Melk

Ensembl Gene

ENSMUSG00000035683

Gene Name

maternal embryonic leucine zipper kinase

Synonyms

MPK38

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9365 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44300876-44364675 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44340693 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 330 (A330V)

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 null
Transcript: ENSMUST00000045607
AA Change: A330V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043806
Gene: ENSMUSG00000035683
AA Change: A330V

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Ahi1	G	A	10: 20,972,136	R481Q	probably damaging	Het
Arhgef3	T	C	14: 27,379,598	I77T	probably damaging	Het
Ash1l	T	A	3: 88,981,900	V362E	possibly damaging	Het
Bcat2	T	A	7: 45,575,870	F57L	probably damaging	Het
Ccdc73	C	T	2: 104,907,666	L36F	probably damaging	Het
Ccl19	C	T	4: 42,756,288	V15I	probably benign	Het
Cenpe	T	A	3: 135,248,446	V1688E	possibly damaging	Het
Ces1a	A	T	8: 93,048,099	F4I	probably benign	Het
Chchd6	G	A	6: 89,574,431	P83S	probably benign	Het
Cnr1	T	C	4: 33,943,798	M62T	probably benign	Het
Colec12	T	C	18: 9,848,146	L108P	probably damaging	Het
Dhrs4	C	T	14: 55,487,319	T181I	probably benign	Het
Disc1	T	C	8: 125,124,546	S392P	probably benign	Het
Dnah3	A	G	7: 119,967,636	F69L		Het
Ehmt1	T	C	2: 24,838,710	D726G	probably damaging	Het
Epg5	T	A	18: 77,954,742	L462I	probably damaging	Het
Exoc2	A	T	13: 30,856,714	S774T	probably benign	Het
Fam135b	A	G	15: 71,462,964	S794P	probably benign	Het
Frmd4a	T	C	2: 4,602,162	V646A	probably benign	Het
Gm3543	G	T	14: 41,982,136	D57E	possibly damaging	Het
Golgb1	T	A	16: 36,915,762	D1831E	probably damaging	Het
Hace1	T	G	10: 45,709,996		probably null	Het
Irgc1	T	C	7: 24,432,447	E315G	possibly damaging	Het
Ism1	A	G	2: 139,740,401	Y211C	probably damaging	Het
Kpna1	T	G	16: 36,012,917	V121G	probably damaging	Het
Lifr	T	A	15: 7,169,040	F250L	probably damaging	Het
Llgl2	A	G	11: 115,849,581	T368A	probably benign	Het
Lmln	T	A	16: 33,104,799	C467*	probably null	Het
Lrrtm3	T	C	10: 64,088,164	E408G	probably benign	Het
Mmp13	T	G	9: 7,277,921	D271E	probably benign	Het
Myh11	T	C	16: 14,234,433	T390A		Het
Myh8	A	G	11: 67,283,806	K249R	probably benign	Het
Nr1h4	T	A	10: 89,483,453	M184L	probably damaging	Het
Obscn	T	A	11: 58,994,511		probably null	Het
Otog	T	G	7: 46,271,264	C964G	probably damaging	Het
Oxct2b	T	C	4: 123,116,796	S170P	probably benign	Het
Pcdha4	T	C	18: 36,954,059	S432P	possibly damaging	Het
Prb1	T	A	6: 132,207,238	R477S	unknown	Het
Prh1	G	A	6: 132,572,145	G205D	unknown	Het
Psg23	C	T	7: 18,610,468	G354D	probably damaging	Het
Pura	T	G	18: 36,287,860	D233E	possibly damaging	Het
Rb1cc1	G	T	1: 6,244,893	L423F	probably damaging	Het
Rimbp3	T	C	16: 17,208,756	S15P	possibly damaging	Het
Scn1a	A	G	2: 66,318,121	F7L	probably benign	Het
Sftpb	A	T	6: 72,307,205	R203*	probably null	Het
Slc30a9	A	G	5: 67,349,799	K478R	probably damaging	Het
Slc35f5	T	A	1: 125,568,596	M156K	probably benign	Het
Slc41a3	A	G	6: 90,635,345	I232V	probably benign	Het
Slit2	A	G	5: 48,304,192	D1527G	probably benign	Het
Srfbp1	T	G	18: 52,490,468	V389G	possibly damaging	Het
Sun2	C	T	15: 79,738,519		probably null	Het
Tep1	G	T	14: 50,827,140	A2386D	probably damaging	Het
Tex15	T	A	8: 33,574,536	S1331R	possibly damaging	Het
Tgm1	A	T	14: 55,704,892	N667K	probably damaging	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tsen54	T	C	11: 115,822,584	F438L	probably damaging	Het
Ube4a	T	C	9: 44,950,893	H150R	probably benign	Het
Uty	T	C	Y: 1,099,712	N1161S	possibly damaging	Het
Vmn2r16	T	A	5: 109,340,198	D312E	probably damaging	Het
Wdr55	T	G	18: 36,760,301	C5W	probably damaging	Het
Zbtb24	C	A	10: 41,456,544	P405Q	probably damaging	Het
Zkscan2	T	A	7: 123,480,368	I789F	probably damaging	Het

Other mutations in Melk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Melk	APN	4	44347262	missense	probably benign	0.05
IGL01367:Melk	APN	4	44332907	missense	possibly damaging	0.62
IGL01865:Melk	APN	4	44344988	missense	probably benign	0.00
IGL02801:Melk	APN	4	44360930	missense	probably damaging	0.99
R0037:Melk	UTSW	4	44360864	splice site	probably benign
R0433:Melk	UTSW	4	44340614	splice site	probably benign
R0570:Melk	UTSW	4	44308906	missense	probably damaging	1.00
R0786:Melk	UTSW	4	44303649	missense	unknown
R1483:Melk	UTSW	4	44308937	missense	probably damaging	1.00
R2042:Melk	UTSW	4	44309051	critical splice donor site	probably null
R3831:Melk	UTSW	4	44345021	missense	probably benign	0.05
R5060:Melk	UTSW	4	44350959	missense	probably benign	0.15
R5236:Melk	UTSW	4	44344959	missense	probably benign
R5269:Melk	UTSW	4	44363730	missense	probably damaging	1.00
R5357:Melk	UTSW	4	44363730	missense	probably damaging	1.00
R5358:Melk	UTSW	4	44363730	missense	probably damaging	1.00
R5360:Melk	UTSW	4	44363730	missense	probably damaging	1.00
R5430:Melk	UTSW	4	44309033	missense	probably damaging	1.00
R5576:Melk	UTSW	4	44312255	missense	probably null	1.00
R5656:Melk	UTSW	4	44312237	missense	possibly damaging	0.95
R5738:Melk	UTSW	4	44310333	missense	probably damaging	1.00
R5972:Melk	UTSW	4	44351007	missense	probably benign	0.01
R6265:Melk	UTSW	4	44318109	missense	probably damaging	1.00
R6340:Melk	UTSW	4	44340633	missense	probably damaging	1.00
R7202:Melk	UTSW	4	44351106	missense	probably benign
R7242:Melk	UTSW	4	44360885	missense	probably damaging	1.00
R7328:Melk	UTSW	4	44332931	missense	probably benign
R7608:Melk	UTSW	4	44325571	splice site	probably null
R8053:Melk	UTSW	4	44318109	missense	probably damaging	1.00
R8185:Melk	UTSW	4	44360965	missense	probably benign	0.14
R8356:Melk	UTSW	4	44312191	missense	possibly damaging	0.75
R8456:Melk	UTSW	4	44312191	missense	possibly damaging	0.75
X0020:Melk	UTSW	4	44349876	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- ACGTCTGAAGCTGTTGACTG -3'
(R):5'- TCTCACCACGATGTTTAAACCC -3'

Sequencing Primer
(F):5'- ACGTCTGAAGCTGTTGACTGAATTC -3'
(R):5'- CACAGTGGTCAAGTACTTGGC -3'

Posted On

2022-04-18