Mutagenetix > Incidental Mutations

Incidental Mutation 'R7220:Ckmt1'

561713

Institutional Source

Beutler Lab

Gene Symbol

Ckmt1

Ensembl Gene

ENSMUSG00000000308

Gene Name

creatine kinase, mitochondrial 1, ubiquitous

Synonyms

mi-CK, UbCKmit, Mt-CK

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.438) question?

Stock #

R7220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121357714-121363737 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121358893 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 15 (L15P)

Ref Sequence

ENSEMBL: ENSMUSP00000000317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000317] [ENSMUST00000038389] [ENSMUST00000078222] [ENSMUST00000110625] [ENSMUST00000110627] [ENSMUST00000110628] [ENSMUST00000125221] [ENSMUST00000125812] [ENSMUST00000126130] [ENSMUST00000128612] [ENSMUST00000129130] [ENSMUST00000134796] [ENSMUST00000150271]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000317
AA Change: L15P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000317
Gene: ENSMUSG00000000308
AA Change: L15P

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

possibly damaging
Transcript: ENSMUST00000078222
AA Change: L15P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077349
Gene: ENSMUSG00000000308
AA Change: L15P

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: ENSMUST00000110625

SMART Domains

Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	906	8.5e-110	PFAM
low complexity region	1142	1160	N/A	INTRINSIC
coiled coil region	1381	1409	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110627

SMART Domains

Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	906	8.5e-110	PFAM
low complexity region	1142	1160	N/A	INTRINSIC
coiled coil region	1381	1409	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110628

SMART Domains

Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	886	3.9e-101	PFAM
low complexity region	1143	1161	N/A	INTRINSIC
coiled coil region	1382	1410	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125221
AA Change: L15P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121930
Gene: ENSMUSG00000000308
AA Change: L15P

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

possibly damaging
Transcript: ENSMUST00000125812
AA Change: L15P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115501
Gene: ENSMUSG00000000308
AA Change: L15P

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

unknown
Transcript: ENSMUST00000126130
AA Change: L15P

SMART Domains

Protein: ENSMUSP00000117463
Gene: ENSMUSG00000000308
AA Change: L15P

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

Predicted Effect

unknown
Transcript: ENSMUST00000128612
AA Change: L15P

SMART Domains

Protein: ENSMUSP00000115610
Gene: ENSMUSG00000000308
AA Change: L15P

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 damaging
Transcript: ENSMUST00000129130
AA Change: L15P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123130
Gene: ENSMUSG00000000308
AA Change: L15P

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

probably benign
Transcript: ENSMUST00000134796

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150271
AA Change: L15P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120507
Gene: ENSMUSG00000000308
AA Change: L15P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	G	A	12: 55,304,415	V170M	possibly damaging	Het
5031439G07Rik	A	T	15: 84,953,136	H325Q	probably damaging	Het
Aasdh	T	C	5: 76,901,925	I75V	probably benign	Het
Abca14	G	A	7: 120,227,444	D438N	possibly damaging	Het
Abca8a	T	A	11: 110,089,967	I82F	probably benign	Het
Abca8b	G	T	11: 109,981,717	N19K	probably damaging	Het
Acan	A	G	7: 79,108,148	N506S		Het
Alox12e	C	A	11: 70,315,905	R652L	probably benign	Het
Atad3a	A	G	4: 155,754,041	V173A	probably benign	Het
Atl3	A	G	19: 7,529,068	K326R	probably null	Het
Atm	G	T	9: 53,511,917	C636*	probably null	Het
Atp2c2	G	A	8: 119,745,561	M451I	probably benign	Het
B020004J07Rik	A	G	4: 101,837,368	F106S	probably benign	Het
Best1	A	T	19: 9,992,115	M193K	probably benign	Het
Bmper	G	T	9: 23,399,355	G362C	probably damaging	Het
Brd4	T	A	17: 32,225,583	Y139F	unknown	Het
Bzw2	A	T	12: 36,123,951	I108N	possibly damaging	Het
Cbs	C	A	17: 31,619,217	V353L	probably benign	Het
Ceacam20	A	G	7: 19,967,753	T22A	probably damaging	Het
Ckap2l	C	T	2: 129,275,516	E580K	probably damaging	Het
Clec18a	G	T	8: 111,081,572	P66H	probably benign	Het
Cma1	G	T	14: 55,942,663	T95K	probably benign	Het
Csmd3	A	G	15: 48,457,598	V272A	probably damaging	Het
Ctnna3	A	T	10: 64,834,589	E632D	probably benign	Het
Ctsc	T	C	7: 88,297,153	L130P	probably damaging	Het
Frmpd2	A	T	14: 33,507,475	R339S	probably damaging	Het
Frrs1	C	A	3: 116,880,776	S69*	probably null	Het
Gcc2	A	T	10: 58,280,594	E1108D	probably benign	Het
Gkn1	A	T	6: 87,349,153		probably null	Het
Gtf2a1	A	T	12: 91,567,724	M252K	probably benign	Het
H2-Ob	T	C	17: 34,241,260	F115S	probably damaging	Het
Ighv1-53	T	C	12: 115,158,515	N80S	probably benign	Het
Ighv1-67	T	C	12: 115,604,046	K82R	probably benign	Het
Ints1	A	T	5: 139,762,073	I1193N	possibly damaging	Het
Kmt2c	A	G	5: 25,344,925	F1353L	probably damaging	Het
Luc7l	C	T	17: 26,253,245		probably benign	Het
Man1a	A	C	10: 53,920,235	S454A	possibly damaging	Het
Mars2	C	A	1: 55,238,063	A275D	probably damaging	Het
Nrde2	A	G	12: 100,130,919	V874A	probably benign	Het
Ociad1	A	G	5: 73,313,466	T244A	probably benign	Het
Olfr139	A	T	11: 74,044,763	D170E	possibly damaging	Het
Olfr25	A	T	9: 38,329,750	L51F	probably damaging	Het
Olfr418	A	G	1: 173,270,244	Y23C	possibly damaging	Het
Ovca2	A	G	11: 75,178,675	C41R	possibly damaging	Het
Pacsin2	A	T	15: 83,385,059	D11E	probably damaging	Het
Pcdh15	G	A	10: 74,342,609	S566N	possibly damaging	Het
Pde3b	A	G	7: 114,536,062	I1038M	probably damaging	Het
Pi16	C	A	17: 29,319,234	P7Q	possibly damaging	Het
Pkhd1	T	A	1: 20,523,126	T1588S	possibly damaging	Het
Ppig	A	G	2: 69,749,976	D618G	unknown	Het
Prss51	A	T	14: 64,095,995	K18*	probably null	Het
Ptpra	T	A	2: 130,544,497	D622E	probably damaging	Het
Ptprs	A	T	17: 56,418,988	F1431L	probably benign	Het
Pxdn	A	G	12: 29,994,480	I486V	probably benign	Het
Rnpc3	G	A	3: 113,628,355	A77V	probably benign	Het
Rtl10	T	A	16: 18,501,276	C85*	probably null	Het
Skint10	A	G	4: 112,728,973	S149P	probably benign	Het
Slc17a8	A	C	10: 89,576,413	V570G	probably benign	Het
Slc25a42	A	T	8: 70,189,498	V98E	probably damaging	Het
Smco2	A	G	6: 146,858,865	E73G	probably benign	Het
Ss18	T	C	18: 14,679,420	Y38C	probably damaging	Het
Sspo	T	A	6: 48,476,606	C2909*	probably null	Het
Tbccd1	A	G	16: 22,833,997	Y125H	probably benign	Het
Tdrd9	A	G	12: 112,014,454	T446A	probably damaging	Het
Tecta	G	T	9: 42,343,887	Q1672K	probably benign	Het
Tek	G	C	4: 94,804,304	W216C	probably damaging	Het
Timm17a	C	T	1: 135,313,575		probably null	Het
Tlr4	A	T	4: 66,839,951	H327L	probably benign	Het
Trim33	T	C	3: 103,326,793	I449T	possibly damaging	Het
Vmn1r57	A	G	7: 5,220,560	N28S	probably null	Het
Vmn2r117	T	A	17: 23,477,203	H410L	probably damaging	Het
Vmn2r16	A	G	5: 109,360,906	E500G	probably damaging	Het
Wif1	A	G	10: 121,090,114	N245S	possibly damaging	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
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	unclassified	probably null
R1590:Ckmt1	UTSW	2	121363522	missense	possibly damaging	0.96
R1640:Ckmt1	UTSW	2	121359717	unclassified	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
X0067:Ckmt1	UTSW	2	121360967	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGCTTCAGCCTTCATCGTGAC -3'
(R):5'- GGAAATCCATCTTCGAGGCC -3'

Sequencing Primer
(F):5'- GTGACCCCTATTTTGGCTCCAG -3'
(R):5'- CGAGGCCTATCTTTTGCTCAGG -3'

Posted On

2019-06-26