Incidental Mutation 'IGL01141:Ckmt1'
ID50618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ckmt1
Ensembl Gene ENSMUSG00000000308
Gene Namecreatine kinase, mitochondrial 1, ubiquitous
Synonymsmi-CK, UbCKmit, Mt-CK
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.217) question?
Stock #IGL01141
Quality Score
Status
Chromosome2
Chromosomal Location121357714-121363737 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 121362993 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 345 (I345F)
Ref Sequence ENSEMBL: ENSMUSP00000077349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000317] [ENSMUST00000038389] [ENSMUST00000078222] [ENSMUST00000125221] [ENSMUST00000125812] [ENSMUST00000126130] [ENSMUST00000128612] [ENSMUST00000129130] [ENSMUST00000150271]
Predicted Effect probably benign
Transcript: ENSMUST00000000317
AA Change: I345F

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000000317
Gene: ENSMUSG00000000308
AA Change: I345F

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
AA Change: I345F

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000077349
Gene: ENSMUSG00000000308
AA Change: I345F

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,937,730 D1447E probably damaging Het
Atp2a3 T C 11: 72,982,665 I788T probably damaging Het
Axin1 G A 17: 26,190,041 E672K probably damaging Het
Ccno A G 13: 112,989,027 D175G probably damaging Het
Cep83 C A 10: 94,788,757 T632K probably benign Het
Cntnap1 G A 11: 101,178,807 probably benign Het
Edem2 A G 2: 155,709,028 Y340H probably benign Het
Erich3 A G 3: 154,714,016 K249R probably benign Het
Fndc9 T C 11: 46,237,699 I15T probably benign Het
Gm4758 A G 16: 36,308,064 E7G probably benign Het
Grip2 G T 6: 91,782,897 Q300K probably benign Het
Herc2 T C 7: 56,212,841 V4050A possibly damaging Het
Jup A T 11: 100,386,249 D44E probably benign Het
Lingo3 G T 10: 80,835,313 P261Q probably damaging Het
Lrrfip2 C T 9: 111,219,715 R311W probably damaging Het
Mansc1 C A 6: 134,621,785 L56F probably benign Het
Map1b A G 13: 99,434,761 I484T probably damaging Het
Mpeg1 T A 19: 12,462,785 F536I probably damaging Het
Mrgprb1 T G 7: 48,448,027 T46P probably benign Het
Mug1 A G 6: 121,870,499 N612S probably benign Het
Olfr477 T C 7: 107,990,551 F62S probably damaging Het
Olfr805 T A 10: 129,722,945 I200L probably benign Het
Pax8 A G 2: 24,441,150 S178P probably damaging Het
Peak1 A G 9: 56,258,527 F706L probably benign Het
Prkdc A G 16: 15,726,704 T1853A probably damaging Het
Reln A C 5: 21,969,033 F2024C probably damaging Het
Reln G T 5: 21,919,069 P2813Q probably damaging Het
Riox1 A G 12: 83,951,794 Q368R probably damaging Het
Rspry1 T C 8: 94,649,855 V335A probably benign Het
Scn3a T C 2: 65,495,113 N1020S possibly damaging Het
Scyl2 A G 10: 89,640,635 V876A probably benign Het
Sdhaf3 T A 6: 6,956,141 F39I probably damaging Het
Sfxn4 T C 19: 60,851,014 E202G possibly damaging Het
Slc1a4 A T 11: 20,308,644 probably benign Het
Sln A G 9: 53,853,500 I10V probably benign Het
Ssh2 A G 11: 77,449,726 E568G probably damaging Het
Supt7l G A 5: 31,518,435 P270S probably benign Het
Tanc2 A G 11: 105,886,474 probably benign Het
Tatdn1 A T 15: 58,909,567 probably benign Het
Tfip11 C T 5: 112,329,503 P117L possibly damaging Het
Vpreb1 T C 16: 16,869,087 M9V probably benign Het
Other mutations in Ckmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Ckmt1 APN 2 121361150 missense probably damaging 1.00
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
R7220:Ckmt1 UTSW 2 121358893 missense possibly damaging 0.96
R8100:Ckmt1 UTSW 2 121360777 missense probably benign
X0067:Ckmt1 UTSW 2 121360967 nonsense probably null
Z1177:Ckmt1 UTSW 2 121359575 missense probably damaging 0.98
Posted On2013-06-21