Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01403:Ckmt1'

79733

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ckmt1

Ensembl Gene

ENSMUSG00000000308

Gene Name

creatine kinase, mitochondrial 1, ubiquitous

Synonyms

mi-CK, UbCKmit, Mt-CK

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

IGL01403

Quality Score

Status

Chromosome

Chromosomal Location

121357714-121363737 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 121362966 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000317] [ENSMUST00000038389] [ENSMUST00000078222] [ENSMUST00000125221] [ENSMUST00000125812] [ENSMUST00000126130] [ENSMUST00000128612] [ENSMUST00000129130] [ENSMUST00000150271]

AlphaFold

P30275

Predicted Effect

probably benign
Transcript: ENSMUST00000000317

SMART Domains

Protein: ENSMUSP00000000317
Gene: ENSMUSG00000000308

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
Pfam:ATP-gua_PtransN	58	133	5.8e-34	PFAM
Pfam:ATP-gua_Ptrans	154	401	4.5e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038389

SMART Domains

Protein: ENSMUSP00000039378
Gene: ENSMUSG00000033498

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	74	87	N/A	INTRINSIC
low complexity region	108	119	N/A	INTRINSIC
low complexity region	132	161	N/A	INTRINSIC
low complexity region	277	291	N/A	INTRINSIC
low complexity region	376	425	N/A	INTRINSIC
low complexity region	610	635	N/A	INTRINSIC
low complexity region	656	677	N/A	INTRINSIC
low complexity region	728	746	N/A	INTRINSIC
low complexity region	898	921	N/A	INTRINSIC
low complexity region	1168	1194	N/A	INTRINSIC
low complexity region	1287	1302	N/A	INTRINSIC
low complexity region	1560	1580	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078222

SMART Domains

Protein: ENSMUSP00000077349
Gene: ENSMUSG00000000308

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
Pfam:ATP-gua_PtransN	55	134	1.2e-37	PFAM
Pfam:ATP-gua_Ptrans	154	401	2e-105	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125221

SMART Domains

Protein: ENSMUSP00000121930
Gene: ENSMUSG00000000308

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
Pfam:ATP-gua_PtransN	55	117	5.9e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125812

SMART Domains

Protein: ENSMUSP00000115501
Gene: ENSMUSG00000000308

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
Pfam:ATP-gua_PtransN	55	134	9.7e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126130

SMART Domains

Protein: ENSMUSP00000117463
Gene: ENSMUSG00000000308

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
low complexity region	39	54	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128612

SMART Domains

Protein: ENSMUSP00000115610
Gene: ENSMUSG00000000308

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
low complexity region	47	63	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129130

SMART Domains

Protein: ENSMUSP00000123130
Gene: ENSMUSG00000000308

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
Pfam:ATP-gua_PtransN	86	165	5.7e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145380

Predicted Effect

probably benign
Transcript: ENSMUST00000150271

SMART Domains

Protein: ENSMUSP00000120507
Gene: ENSMUSG00000000308

Domain	Start	End	E-Value	Type
low complexity region	6	32	N/A	INTRINSIC
Pfam:ATP-gua_PtransN	55	134	3.3e-38	PFAM
Pfam:ATP-gua_Ptrans	154	251	3.8e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153040

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele have no visual or motor impairments but display diminished open field habituation and slower spatial learning acquisition in the Morris water maze task as well as a reduced acoustic startle response, higher threshold, and lack of prepulse inhibition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,229,170		probably benign	Het
Abcb5	A	T	12: 118,872,867	L1103Q	probably damaging	Het
Adam12	T	A	7: 133,919,610	Q605L	probably benign	Het
Adk	A	G	14: 21,234,915	K102R	probably damaging	Het
Afdn	C	T	17: 13,903,870	P1761S	probably damaging	Het
Ascc1	A	G	10: 60,012,458		probably benign	Het
Aspdh	A	G	7: 44,466,559		probably null	Het
Bbx	T	C	16: 50,202,513	I753V	probably benign	Het
Ccdc33	T	C	9: 58,117,385	Y186C	probably damaging	Het
Ccdc78	T	A	17: 25,788,244		probably null	Het
Csf1r	A	G	18: 61,114,825	T322A	probably benign	Het
Dnah7b	T	C	1: 46,116,300		probably benign	Het
Dr1	A	G	5: 108,269,710	N41D	possibly damaging	Het
Ehmt1	G	A	2: 24,839,626	T633I	possibly damaging	Het
Fgf7	T	A	2: 126,035,940	Y76N	probably damaging	Het
Hmcn1	A	T	1: 150,593,097	W5038R	probably damaging	Het
Ighv14-1	A	G	12: 113,932,242	V21A	probably damaging	Het
Igkv5-37	T	A	6: 69,963,436	I75F	probably damaging	Het
Inhbc	T	A	10: 127,370,099	I100F	probably damaging	Het
Irs3	A	G	5: 137,645,319	F68L	probably damaging	Het
Itpr3	T	A	17: 27,118,595	C2460S	probably damaging	Het
Krt34	A	G	11: 100,038,290	C365R	possibly damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Ly6g	A	G	15: 75,158,648	N82S	probably damaging	Het
Mrpl58	A	T	11: 115,406,578	I72F	probably damaging	Het
Myo9a	G	A	9: 59,871,563	R1534H	probably damaging	Het
Npat	T	A	9: 53,555,129	F239L	probably benign	Het
Nsd2	A	G	5: 33,885,378		probably benign	Het
Nuggc	T	C	14: 65,623,186	V427A	probably benign	Het
Olfr476	A	G	7: 107,967,621	T75A	possibly damaging	Het
Olfr690	G	A	7: 105,329,398	R265C	probably benign	Het
Pde4a	A	T	9: 21,205,116	I467F	probably damaging	Het
Pkhd1l1	T	A	15: 44,483,833	C198*	probably null	Het
Pla2r1	A	G	2: 60,424,288	V1312A	probably damaging	Het
Pola2	T	C	19: 5,959,093	H79R	probably benign	Het
Pramef20	A	T	4: 144,377,133	M141K	probably benign	Het
Psen2	A	T	1: 180,234,983		probably benign	Het
Rnf213	A	G	11: 119,443,300	K3112E	probably damaging	Het
Slc6a4	G	T	11: 77,031,672	V630L	probably benign	Het
Smg1	A	T	7: 118,158,132		probably benign	Het
Tmc8	A	G	11: 117,791,074	T510A	possibly damaging	Het
Usp18	T	A	6: 121,268,668	H334Q	possibly damaging	Het
Vmn2r103	T	C	17: 19,792,967	Y117H	probably benign	Het
Vps13b	T	A	15: 35,709,479	D1857E	probably benign	Het

Other mutations in Ckmt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:Ckmt1	APN	2	121361150	missense	probably damaging	1.00
IGL01141:Ckmt1	APN	2	121362993	missense	probably benign	0.07
IGL01971:Ckmt1	APN	2	121363583	missense	probably benign	0.41
IGL02037:Ckmt1	APN	2	121361162	missense	probably damaging	0.99
IGL02750:Ckmt1	APN	2	121363615	unclassified	probably benign
IGL03303:Ckmt1	APN	2	121360005	missense	probably benign
R0157:Ckmt1	UTSW	2	121363041	missense	possibly damaging	0.86
R0331:Ckmt1	UTSW	2	121362856	splice site	probably null
R1590:Ckmt1	UTSW	2	121363522	missense	possibly damaging	0.96
R1640:Ckmt1	UTSW	2	121359717	splice site	probably null
R1853:Ckmt1	UTSW	2	121360650	missense	probably damaging	1.00
R4726:Ckmt1	UTSW	2	121361231	critical splice donor site	probably null
R4788:Ckmt1	UTSW	2	121359946	missense	possibly damaging	0.87
R5632:Ckmt1	UTSW	2	121360592	missense	probably damaging	1.00
R5633:Ckmt1	UTSW	2	121363629	unclassified	probably benign
R5960:Ckmt1	UTSW	2	121363577	missense	probably damaging	1.00
R6123:Ckmt1	UTSW	2	121363579	missense	probably benign	0.05
R6673:Ckmt1	UTSW	2	121359670	missense	probably damaging	1.00
R7220:Ckmt1	UTSW	2	121358893	missense	possibly damaging	0.96
R8100:Ckmt1	UTSW	2	121360777	missense	probably benign
R8359:Ckmt1	UTSW	2	121363050	missense	probably benign	0.00
R8508:Ckmt1	UTSW	2	121362691	missense	possibly damaging	0.64
R8512:Ckmt1	UTSW	2	121361208	missense	probably damaging	1.00
R8821:Ckmt1	UTSW	2	121360821	intron	probably benign
R9181:Ckmt1	UTSW	2	121359389	intron	probably benign
X0067:Ckmt1	UTSW	2	121360967	nonsense	probably null
Z1177:Ckmt1	UTSW	2	121359575	missense	probably damaging	0.98

Posted On

2013-11-05