Mutagenetix > Incidental Mutation

Incidental Mutation 'R5576:Melk'

437201

Institutional Source

Beutler Lab

Gene Symbol

Melk

Ensembl Gene

ENSMUSG00000035683

Gene Name

maternal embryonic leucine zipper kinase

Synonyms

MPK38

MMRRC Submission

043131-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5576 (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 44312255 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 141 (E141G)

Ref Sequence

ENSEMBL: ENSMUSP00000120242 (fasta)

Gene Model

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

AlphaFold

Q61846

Predicted Effect

probably null
Transcript: ENSMUST00000045607
AA Change: E189G

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

SMART Domains

Protein: ENSMUSP00000043806
Gene: ENSMUSG00000035683
AA Change: E189G

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

probably null
Transcript: ENSMUST00000125708
AA Change: E118G

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118359
Gene: ENSMUSG00000035683
AA Change: E118G

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 null
Transcript: ENSMUST00000137703
AA Change: E141G

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

SMART Domains

Protein: ENSMUSP00000120242
Gene: ENSMUSG00000035683
AA Change: E141G

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: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.5%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,737,704	T96I	probably benign	Het
Add2	G	T	6: 86,107,475		probably null	Het
Agbl1	C	T	7: 76,335,237	T134M	probably benign	Het
Agfg1	T	A	1: 82,870,724	S32T	probably benign	Het
Ankrd17	A	C	5: 90,243,224	S2087A	probably benign	Het
Apob	A	T	12: 7,998,662	E1012V	probably damaging	Het
Baiap2	T	A	11: 119,996,911	V297E	probably benign	Het
BC034090	T	G	1: 155,241,468	K301N	probably benign	Het
Bhlha9	T	C	11: 76,672,769	I74T	probably damaging	Het
Btnl9	T	C	11: 49,178,885	H189R	probably benign	Het
Ccdc122	G	A	14: 77,091,877	M123I	probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dnah9	T	C	11: 65,834,096		probably null	Het
Dnaja2	A	T	8: 85,539,404	L351I	possibly damaging	Het
Efcab6	C	A	15: 83,950,000	S469I	probably benign	Het
Esp15	C	A	17: 39,642,673	T17K	probably damaging	Het
Fads1	A	G	19: 10,185,874	T172A	probably benign	Het
Fbp2	A	T	13: 62,837,191	D305E	probably benign	Het
Golga4	A	G	9: 118,553,534	T541A	probably benign	Het
Herc3	T	C	6: 58,888,725	Y768H	probably benign	Het
Kmt2a	A	G	9: 44,842,634	V514A	possibly damaging	Het
Nln	A	G	13: 104,058,830	Y245H	probably damaging	Het
Nrap	C	T	19: 56,321,982	R1563H	probably damaging	Het
Olfr854	T	A	9: 19,567,073	M101L	probably benign	Het
Olfr907	A	C	9: 38,498,908	K80Q	probably damaging	Het
Pde4b	T	A	4: 102,430,162	I34N	probably damaging	Het
Pex11g	A	G	8: 3,465,875	S53P	probably damaging	Het
Pole	A	T	5: 110,312,065	K1112*	probably null	Het
Ppfia4	T	G	1: 134,323,050	D184A	possibly damaging	Het
Rpp30	T	A	19: 36,101,851	D216E	probably benign	Het
Sbno2	C	T	10: 80,067,337	A398T	probably damaging	Het
Sbp	T	A	17: 23,945,578	S94T	probably benign	Het
Skp1a	T	G	11: 52,242,588	D33E	possibly damaging	Het
Slc17a8	A	G	10: 89,597,502	W220R	probably damaging	Het
Slfn9	A	T	11: 82,981,432	M826K	probably benign	Het
Snx2	A	G	18: 53,210,750	K322E	probably benign	Het
Spata32	T	A	11: 103,209,827	N38I	possibly damaging	Het
Sycp1	T	C	3: 102,818,902	R969G	probably damaging	Het
Tcrg-C2	T	C	13: 19,305,131	I144V	probably benign	Het
Trpc1	A	G	9: 95,721,324	L385S	probably damaging	Het
Vmn2r105	C	T	17: 20,224,574		probably null	Het
Xrcc6	T	A	15: 82,022,492	D79E	probably damaging	Het
Zan	A	T	5: 137,428,482	C2467*	probably null	Het
Zfp26	A	G	9: 20,437,507	V587A	possibly damaging	Het
Zfp553	C	T	7: 127,236,703	R477C	possibly 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
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
R9365:Melk	UTSW	4	44340693	missense	probably null
R9749:Melk	UTSW	4	44307067	missense	possibly damaging	0.63
X0020:Melk	UTSW	4	44349876	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- GCAGAATTCCTCACTTTGGGG -3'
(R):5'- GACTGAACTAAGACACAAGTGC -3'

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

Posted On

2016-10-26