Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01135:Ckmt1'

50598

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: 0.205) question?

Stock #

IGL01135

Quality Score

Status

Chromosome

Chromosomal Location

121357714-121363737 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 121361150 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 267 (D267A)

Ref Sequence

ENSEMBL: ENSMUSP00000077349 (fasta)

Gene Model

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

AlphaFold

P30275

Predicted Effect

probably damaging
Transcript: ENSMUST00000000317
AA Change: D267A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000317
Gene: ENSMUSG00000000308
AA Change: D267A

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 damaging
Transcript: ENSMUST00000078222
AA Change: D267A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077349
Gene: ENSMUSG00000000308
AA Change: D267A

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
5730507C01Rik	G	A	12: 18,533,374	R145H	possibly damaging	Het
Acox3	T	A	5: 35,588,752	V93E	probably benign	Het
Ankar	T	C	1: 72,665,219	N848S	probably benign	Het
Blzf1	A	G	1: 164,303,930		probably benign	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Dtl	G	T	1: 191,548,330	T364K	probably damaging	Het
Fam46a	A	G	9: 85,326,599	V57A	probably damaging	Het
Fat1	T	A	8: 45,024,840	F2308I	probably damaging	Het
Fbxo41	A	T	6: 85,477,908	S673T	probably benign	Het
Flnb	G	A	14: 7,909,736	V1397I	probably benign	Het
Gdi2	A	G	13: 3,548,855		probably benign	Het
Gm5155	A	T	7: 17,902,471		noncoding transcript	Het
Grik3	C	T	4: 125,632,415	T147I	probably benign	Het
Htr1a	T	C	13: 105,445,284	V344A	possibly damaging	Het
Isg20l2	A	T	3: 87,931,761	D93V	probably damaging	Het
Kcnt2	T	C	1: 140,354,555		probably null	Het
Mfsd4b3	A	G	10: 39,948,072	M64T	probably benign	Het
Nox3	T	A	17: 3,696,252		probably benign	Het
Olfr693	C	T	7: 106,678,193	A98T	probably benign	Het
Pikfyve	T	A	1: 65,251,635	N1204K	probably damaging	Het
Pou4f3	C	T	18: 42,395,966	Q325*	probably null	Het
Rap1a	T	A	3: 105,732,035	T103S	probably benign	Het
Rfc4	G	A	16: 23,115,776	R165C	probably damaging	Het
Smtnl1	A	G	2: 84,818,887	S8P	probably benign	Het
Syt17	C	T	7: 118,382,047	G351S	possibly damaging	Het
Tcf20	T	A	15: 82,853,900	M1117L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028	H39Q	probably damaging	Het
Trdmt1	T	C	2: 13,521,260		probably null	Het
Twf2	A	G	9: 106,212,828	I127V	probably benign	Het
Unc13c	A	G	9: 73,484,893	V2059A	probably damaging	Het

Other mutations in Ckmt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Ckmt1	APN	2	121362993	missense	probably benign	0.07
IGL01403:Ckmt1	APN	2	121362966	unclassified	probably benign
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

2013-06-21