Incidental Mutation 'IGL01971:Ckmt1'
ID 182550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ckmt1
Ensembl Gene ENSMUSG00000000308
Gene Name creatine kinase, mitochondrial 1, ubiquitous
Synonyms Mt-CK, mi-CK, UbCKmit
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # IGL01971
Quality Score
Status
Chromosome 2
Chromosomal Location 121188257-121194218 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121194064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 409 (I409N)
Ref Sequence ENSEMBL: ENSMUSP00000077349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000317] [ENSMUST00000038389] [ENSMUST00000078222] [ENSMUST00000125221] [ENSMUST00000125812] [ENSMUST00000126130] [ENSMUST00000129136] [ENSMUST00000128612] [ENSMUST00000129130] [ENSMUST00000150271]
AlphaFold P30275
Predicted Effect probably benign
Transcript: ENSMUST00000000317
AA Change: I409N

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000000317
Gene: ENSMUSG00000000308
AA Change: I409N

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: I409N

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077349
Gene: ENSMUSG00000000308
AA Change: I409N

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 noncoding transcript
Transcript: ENSMUST00000145380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153040
Predicted Effect probably benign
Transcript: ENSMUST00000129136
SMART Domains Protein: ENSMUSP00000118211
Gene: ENSMUSG00000033498

DomainStartEndE-ValueType
low complexity region 26 49 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 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
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik C T 7: 29,273,987 (GRCm39) noncoding transcript Het
Ankmy2 A T 12: 36,243,792 (GRCm39) K336* probably null Het
Areg A G 5: 91,288,870 (GRCm39) T59A probably benign Het
Atp8b4 T C 2: 126,304,536 (GRCm39) I66V probably benign Het
Atrnl1 C T 19: 57,741,715 (GRCm39) T1158M probably damaging Het
Cnnm2 A G 19: 46,860,115 (GRCm39) T730A probably benign Het
Fan1 T C 7: 64,003,459 (GRCm39) R788G probably damaging Het
Fbf1 T C 11: 116,034,208 (GRCm39) probably benign Het
Galnt2l G A 8: 125,070,081 (GRCm39) V499M probably benign Het
Heca A G 10: 17,791,162 (GRCm39) F298S probably damaging Het
Klhl6 A T 16: 19,768,276 (GRCm39) V423E probably damaging Het
Notch3 T C 17: 32,343,321 (GRCm39) N1951D probably damaging Het
Osbp T C 19: 11,967,999 (GRCm39) V636A probably benign Het
Szt2 T C 4: 118,244,152 (GRCm39) T1318A probably benign Het
Tnxb G A 17: 34,891,271 (GRCm39) G538D probably damaging Het
Tpbpa A T 13: 61,088,047 (GRCm39) F46L possibly damaging Het
Ttn A G 2: 76,554,123 (GRCm39) V30860A probably damaging Het
Usf3 A G 16: 44,037,809 (GRCm39) probably null Het
Utp23 C A 15: 51,745,671 (GRCm39) A57E probably benign Het
Vmn2r13 T C 5: 109,321,981 (GRCm39) M239V probably benign Het
Other mutations in Ckmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Ckmt1 APN 2 121,191,631 (GRCm39) missense probably damaging 1.00
IGL01141:Ckmt1 APN 2 121,193,474 (GRCm39) missense probably benign 0.07
IGL01403:Ckmt1 APN 2 121,193,447 (GRCm39) unclassified probably benign
IGL02037:Ckmt1 APN 2 121,191,643 (GRCm39) missense probably damaging 0.99
IGL02750:Ckmt1 APN 2 121,194,096 (GRCm39) unclassified probably benign
IGL03303:Ckmt1 APN 2 121,190,486 (GRCm39) missense probably benign
R0157:Ckmt1 UTSW 2 121,193,522 (GRCm39) missense possibly damaging 0.86
R0331:Ckmt1 UTSW 2 121,193,337 (GRCm39) splice site probably null
R1590:Ckmt1 UTSW 2 121,194,003 (GRCm39) missense possibly damaging 0.96
R1640:Ckmt1 UTSW 2 121,190,198 (GRCm39) splice site probably null
R1853:Ckmt1 UTSW 2 121,191,131 (GRCm39) missense probably damaging 1.00
R4726:Ckmt1 UTSW 2 121,191,712 (GRCm39) critical splice donor site probably null
R4788:Ckmt1 UTSW 2 121,190,427 (GRCm39) missense possibly damaging 0.87
R5632:Ckmt1 UTSW 2 121,191,073 (GRCm39) missense probably damaging 1.00
R5633:Ckmt1 UTSW 2 121,194,110 (GRCm39) unclassified probably benign
R5960:Ckmt1 UTSW 2 121,194,058 (GRCm39) missense probably damaging 1.00
R6123:Ckmt1 UTSW 2 121,194,060 (GRCm39) missense probably benign 0.05
R6673:Ckmt1 UTSW 2 121,190,151 (GRCm39) missense probably damaging 1.00
R7220:Ckmt1 UTSW 2 121,189,374 (GRCm39) missense possibly damaging 0.96
R8100:Ckmt1 UTSW 2 121,191,258 (GRCm39) missense probably benign
R8359:Ckmt1 UTSW 2 121,193,531 (GRCm39) missense probably benign 0.00
R8508:Ckmt1 UTSW 2 121,193,172 (GRCm39) missense possibly damaging 0.64
R8512:Ckmt1 UTSW 2 121,191,689 (GRCm39) missense probably damaging 1.00
R8821:Ckmt1 UTSW 2 121,191,302 (GRCm39) intron probably benign
R9181:Ckmt1 UTSW 2 121,189,870 (GRCm39) intron probably benign
X0067:Ckmt1 UTSW 2 121,191,448 (GRCm39) nonsense probably null
Z1177:Ckmt1 UTSW 2 121,190,056 (GRCm39) missense probably damaging 0.98
Posted On 2014-05-07