Incidental Mutation 'IGL00655:Tnni3k'
ID 14532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnni3k
Ensembl Gene ENSMUSG00000040086
Gene Name TNNI3 interacting kinase
Synonyms Cark, D830019J24Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.279) question?
Stock # IGL00655
Quality Score
Status
Chromosome 3
Chromosomal Location 154491928-154761044 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 154760192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 48 (I48F)
Ref Sequence ENSEMBL: ENSMUSP00000122478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064076] [ENSMUST00000143410]
AlphaFold Q5GIG6
Predicted Effect probably benign
Transcript: ENSMUST00000064076
AA Change: I48F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000070561
Gene: ENSMUSG00000040086
AA Change: I48F

DomainStartEndE-ValueType
coiled coil region 21 49 N/A INTRINSIC
ANK 66 96 9.46e1 SMART
ANK 100 129 4.43e-2 SMART
ANK 133 162 3.15e-7 SMART
ANK 166 195 6.12e-5 SMART
ANK 199 229 1.65e-1 SMART
ANK 233 264 6.07e0 SMART
ANK 268 299 8.99e-3 SMART
ANK 303 334 1.19e-2 SMART
ANK 338 367 7.76e-7 SMART
ANK 380 409 2.43e1 SMART
Pfam:Pkinase 462 718 6.7e-48 PFAM
Pfam:Pkinase_Tyr 462 718 2.1e-59 PFAM
low complexity region 727 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143410
AA Change: I48F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122478
Gene: ENSMUSG00000040086
AA Change: I48F

DomainStartEndE-ValueType
coiled coil region 21 49 N/A INTRINSIC
ANK 66 96 9.46e1 SMART
ANK 100 129 4.43e-2 SMART
ANK 133 162 3.15e-7 SMART
ANK 166 195 6.12e-5 SMART
ANK 199 229 1.65e-1 SMART
ANK 233 264 6.07e0 SMART
ANK 268 299 8.99e-3 SMART
ANK 303 334 1.19e-2 SMART
ANK 338 367 7.76e-7 SMART
ANK 380 409 2.43e1 SMART
Pfam:Pkinase 462 674 3.5e-48 PFAM
Pfam:Pkinase_Tyr 462 674 3.6e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146952
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a conditional allele activated in cardiac myocytes exhibit decreased response to cardiac ischemic/reperfusion injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 G A 4: 49,383,250 (GRCm39) P101L probably damaging Het
Akap13 A G 7: 75,354,146 (GRCm39) K1756E probably damaging Het
Anp32a T A 9: 62,278,994 (GRCm39) probably benign Het
Cenpe T C 3: 134,937,216 (GRCm39) probably null Het
Fam114a2 T A 11: 57,378,413 (GRCm39) I451F probably damaging Het
Fbxw22 T C 9: 109,211,312 (GRCm39) probably benign Het
Fndc3b C T 3: 27,592,161 (GRCm39) G246R probably benign Het
Gcc1 C T 6: 28,421,197 (GRCm39) R40H possibly damaging Het
Lig4 A T 8: 10,023,305 (GRCm39) N158K probably benign Het
Nxph2 A G 2: 23,290,153 (GRCm39) I168M possibly damaging Het
Ropn1 G T 16: 34,498,790 (GRCm39) G193C probably damaging Het
Tuft1 T A 3: 94,530,091 (GRCm39) E184D possibly damaging Het
Usp24 A G 4: 106,247,515 (GRCm39) T1414A probably damaging Het
Other mutations in Tnni3k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Tnni3k APN 3 154,760,206 (GRCm39) missense probably benign 0.00
IGL01090:Tnni3k APN 3 154,645,320 (GRCm39) missense possibly damaging 0.69
IGL01593:Tnni3k APN 3 154,646,666 (GRCm39) splice site probably null
IGL01724:Tnni3k APN 3 154,645,263 (GRCm39) missense possibly damaging 0.53
IGL01887:Tnni3k APN 3 154,580,824 (GRCm39) splice site probably null
IGL01992:Tnni3k APN 3 154,667,663 (GRCm39) missense probably damaging 0.99
IGL02945:Tnni3k APN 3 154,743,075 (GRCm39) missense possibly damaging 0.48
IGL02990:Tnni3k APN 3 154,663,395 (GRCm39) missense probably benign 0.01
IGL03069:Tnni3k APN 3 154,647,242 (GRCm39) splice site probably null
IGL03325:Tnni3k APN 3 154,667,451 (GRCm39) missense probably damaging 1.00
IGL03405:Tnni3k APN 3 154,498,404 (GRCm39) splice site probably benign
R0211:Tnni3k UTSW 3 154,760,981 (GRCm39) start gained probably benign
R0682:Tnni3k UTSW 3 154,645,665 (GRCm39) missense probably damaging 1.00
R0693:Tnni3k UTSW 3 154,667,609 (GRCm39) missense probably damaging 1.00
R0907:Tnni3k UTSW 3 154,647,316 (GRCm39) missense probably damaging 1.00
R1109:Tnni3k UTSW 3 154,498,414 (GRCm39) missense possibly damaging 0.83
R1180:Tnni3k UTSW 3 154,581,150 (GRCm39) missense probably damaging 1.00
R1181:Tnni3k UTSW 3 154,581,150 (GRCm39) missense probably damaging 1.00
R1476:Tnni3k UTSW 3 154,735,942 (GRCm39) missense probably benign 0.05
R1496:Tnni3k UTSW 3 154,645,295 (GRCm39) missense probably damaging 1.00
R1687:Tnni3k UTSW 3 154,645,263 (GRCm39) missense possibly damaging 0.53
R1704:Tnni3k UTSW 3 154,533,145 (GRCm39) missense probably benign 0.27
R1913:Tnni3k UTSW 3 154,684,836 (GRCm39) missense probably benign 0.00
R2343:Tnni3k UTSW 3 154,644,466 (GRCm39) missense probably benign 0.00
R2374:Tnni3k UTSW 3 154,492,422 (GRCm39) missense probably benign 0.12
R2869:Tnni3k UTSW 3 154,644,387 (GRCm39) critical splice donor site probably null
R2869:Tnni3k UTSW 3 154,644,387 (GRCm39) critical splice donor site probably null
R2871:Tnni3k UTSW 3 154,644,387 (GRCm39) critical splice donor site probably null
R2871:Tnni3k UTSW 3 154,644,387 (GRCm39) critical splice donor site probably null
R2872:Tnni3k UTSW 3 154,644,387 (GRCm39) critical splice donor site probably null
R2872:Tnni3k UTSW 3 154,644,387 (GRCm39) critical splice donor site probably null
R2873:Tnni3k UTSW 3 154,644,387 (GRCm39) critical splice donor site probably null
R4858:Tnni3k UTSW 3 154,492,445 (GRCm39) splice site probably null
R5597:Tnni3k UTSW 3 154,577,765 (GRCm39) missense probably damaging 1.00
R5806:Tnni3k UTSW 3 154,533,248 (GRCm39) missense possibly damaging 0.88
R5871:Tnni3k UTSW 3 154,736,007 (GRCm39) missense probably benign 0.23
R6467:Tnni3k UTSW 3 154,674,922 (GRCm39) missense probably damaging 0.97
R6475:Tnni3k UTSW 3 154,646,695 (GRCm39) nonsense probably null
R6882:Tnni3k UTSW 3 154,663,357 (GRCm39) missense possibly damaging 0.49
R6976:Tnni3k UTSW 3 154,498,413 (GRCm39) missense probably benign 0.14
R6986:Tnni3k UTSW 3 154,667,501 (GRCm39) missense probably damaging 1.00
R7207:Tnni3k UTSW 3 154,580,782 (GRCm39) missense probably damaging 1.00
R7539:Tnni3k UTSW 3 154,667,668 (GRCm39) missense probably benign 0.01
R7843:Tnni3k UTSW 3 154,744,161 (GRCm39) missense probably damaging 0.98
R8546:Tnni3k UTSW 3 154,498,444 (GRCm39) missense probably benign
R8787:Tnni3k UTSW 3 154,645,691 (GRCm39) missense probably damaging 0.99
R9011:Tnni3k UTSW 3 154,562,186 (GRCm39) missense probably damaging 1.00
R9031:Tnni3k UTSW 3 154,744,146 (GRCm39) missense probably damaging 1.00
R9098:Tnni3k UTSW 3 154,647,314 (GRCm39) missense possibly damaging 0.67
R9616:Tnni3k UTSW 3 154,667,724 (GRCm39) nonsense probably null
R9655:Tnni3k UTSW 3 154,645,410 (GRCm39) nonsense probably null
R9733:Tnni3k UTSW 3 154,562,244 (GRCm39) missense probably damaging 1.00
Z1088:Tnni3k UTSW 3 154,645,307 (GRCm39) missense probably damaging 1.00
Z1176:Tnni3k UTSW 3 154,744,194 (GRCm39) nonsense probably null
Posted On 2012-12-06