Mutagenetix > Incidental Mutation

Incidental Mutation 'R4515:Ckm'

332851

Institutional Source

Beutler Lab

Gene Symbol

Ckm

Ensembl Gene

ENSMUSG00000030399

Gene Name

creatine kinase, muscle

Synonyms

M-CK, MCK, Ckmm

MMRRC Submission

041589-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R4515 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19404776-19422841 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19420284 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 319 (K319E)

Ref Sequence

ENSEMBL: ENSMUSP00000146972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003643] [ENSMUST00000085715] [ENSMUST00000208710] [ENSMUST00000209058]

AlphaFold

P07310

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003643
AA Change: K250E

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000003643
Gene: ENSMUSG00000030399
AA Change: K250E

Domain	Start	End	E-Value	Type
Pfam:ATP-gua_PtransN	24	99	5.2e-38	PFAM
Pfam:ATP-gua_Ptrans	120	367	2.6e-97	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000047020

SMART Domains

Protein: ENSMUSP00000043987
Gene: ENSMUSG00000040705

Domain	Start	End	E-Value	Type
low complexity region	7	31	N/A	INTRINSIC
low complexity region	44	55	N/A	INTRINSIC
low complexity region	86	95	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085715

SMART Domains

Protein: ENSMUSP00000082862
Gene: ENSMUSG00000030397

Domain	Start	End	E-Value	Type
S_TKc	59	310	1.4e-109	SMART
UBA	331	368	9.62e-8	SMART
low complexity region	391	408	N/A	INTRINSIC
low complexity region	463	474	N/A	INTRINSIC
low complexity region	540	553	N/A	INTRINSIC
low complexity region	580	586	N/A	INTRINSIC
low complexity region	672	690	N/A	INTRINSIC
Pfam:KA1	709	752	1.4e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208685

Predicted Effect

probably damaging
Transcript: ENSMUST00000208710
AA Change: K319E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209058

Meta Mutation Damage Score

0.7495

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in function and energy utilization of both skeletal and cardiac muscle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,647,744	K630N	probably damaging	Het
Acss2	C	A	2: 155,556,363	L335I	probably benign	Het
Alg6	A	T	4: 99,752,786		probably benign	Het
Atp8b3	C	T	10: 80,523,847	M984I	probably benign	Het
Bsn	G	T	9: 108,104,078		probably null	Het
Ccdc88a	T	C	11: 29,482,651	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,992,951	E52K	probably benign	Het
Ces1a	T	A	8: 93,020,904	N500Y	probably damaging	Het
Chd3	G	T	11: 69,349,877	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,385,090	L39P	probably damaging	Het
Cnot6	C	T	11: 49,702,536		probably null	Het
Copg1	A	G	6: 87,907,546		probably benign	Het
Dbn1	A	T	13: 55,476,229	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,465,631	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,601,387	D807E	probably benign	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxi1	A	G	11: 34,207,972	F18L	probably damaging	Het
Galnt3	C	A	2: 66,093,610	R438L	probably damaging	Het
Glod4	T	A	11: 76,243,571	D25V	probably damaging	Het
Gm11492	A	G	11: 87,568,057	H419R	probably benign	Het
Gm9008	C	T	6: 76,496,809	V275I	probably benign	Het
Golga4	T	A	9: 118,559,008	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,367,830		probably null	Het
Hemgn	T	C	4: 46,396,477	E253G	probably damaging	Het
Itsn1	G	A	16: 91,899,649	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257	V947A	probably benign	Het
Kif9	A	G	9: 110,489,867	H133R	probably benign	Het
Lce1l	T	C	3: 92,850,474	T26A	unknown	Het
Macf1	T	C	4: 123,493,988	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,763,938	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,578,191	T49I	probably benign	Het
Oc90	A	G	15: 65,892,393	L138P	probably damaging	Het
Olfr834	T	G	9: 18,987,982		probably null	Het
Olfr954	C	T	9: 39,462,231	R264*	probably null	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Paqr3	T	A	5: 97,103,361	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,091,379	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,278,896	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,672,725	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,225,531	S109G	probably damaging	Het
Prkch	A	G	12: 73,702,838	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,242,379	R253L	probably damaging	Het
Rabac1	A	T	7: 24,970,160	Y173*	probably null	Het
Rapsn	G	A	2: 91,043,212	V288M	possibly damaging	Het
Sec31a	A	G	5: 100,365,958	S993P	probably damaging	Het
Serpina9	T	A	12: 104,001,294	M281L	probably benign	Het
Serpine1	G	A	5: 137,069,468	A117V	probably damaging	Het
Sh3tc2	A	G	18: 61,987,693		probably null	Het
Sipa1l2	T	C	8: 125,492,226	D124G	probably benign	Het
Slc6a12	T	A	6: 121,353,530		probably null	Het
Stk11	A	G	10: 80,116,601		probably benign	Het
Tcaf3	A	G	6: 42,589,996	Y720H	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,196	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,957,356	S988N	probably benign	Het
Txn2	A	T	15: 77,915,443		probably null	Het
Ugt1a10	T	A	1: 88,056,197	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,681,213	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258	D548V	probably damaging	Het

Other mutations in Ckm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Ckm	APN	7	19416787	nonsense	probably null
IGL01486:Ckm	APN	7	19421231	missense	probably damaging	1.00
IGL03303:Ckm	APN	7	19414338	splice site	probably benign
R0382:Ckm	UTSW	7	19421384	makesense	probably null
R0505:Ckm	UTSW	7	19419452	nonsense	probably null
R2042:Ckm	UTSW	7	19414157	missense	possibly damaging	0.49
R2157:Ckm	UTSW	7	19421354	missense	probably benign	0.00
R4257:Ckm	UTSW	7	19421354	missense	probably benign	0.00
R4663:Ckm	UTSW	7	19419494	missense	probably damaging	1.00
R5327:Ckm	UTSW	7	19420165	missense	probably damaging	1.00
R5788:Ckm	UTSW	7	19419447	missense	probably benign	0.08
R6995:Ckm	UTSW	7	19420231	missense	probably benign	0.03
R7212:Ckm	UTSW	7	19415053	critical splice donor site	probably null
R9313:Ckm	UTSW	7	19415473	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGTCCAATTCCTGGTGTCC -3'
(R):5'- ACCCCATTCCATTTACAGGTAGAG -3'

Sequencing Primer
(F):5'- CCCTTTCTCAGATTGAGGAGATC -3'
(R):5'- CCATTTACAGGTAGAGAATCTGAGCC -3'

Posted On

2015-08-18