Incidental Mutation 'IGL01887:Tnni3k'
ID179179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnni3k
Ensembl Gene ENSMUSG00000040086
Gene NameTNNI3 interacting kinase
SynonymsCark, D830019J24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.211) question?
Stock #IGL01887
Quality Score
Status
Chromosome3
Chromosomal Location154786291-155055407 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 154875187 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000070561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064076] [ENSMUST00000143410]
Predicted Effect probably null
Transcript: ENSMUST00000064076
SMART Domains Protein: ENSMUSP00000070561
Gene: ENSMUSG00000040086

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
SMART Domains Protein: ENSMUSP00000122478
Gene: ENSMUSG00000040086

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
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810041L15Rik A G 15: 84,406,650 L152P probably damaging Het
Appl2 C A 10: 83,621,522 probably benign Het
Faap20 T C 4: 155,256,200 V158A probably damaging Het
Fam214a A G 9: 75,017,057 I861V probably benign Het
Filip1 A T 9: 79,819,617 D573E probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Lins1 T C 7: 66,710,381 I168T probably damaging Het
Myo5b A G 18: 74,714,936 R1082G probably benign Het
Olfr1089 A G 2: 86,732,686 C309R probably benign Het
Olfr1110 A G 2: 87,135,541 I260T possibly damaging Het
Pomt2 C T 12: 87,119,589 V439I probably damaging Het
Rars A T 11: 35,825,995 D231E probably benign Het
Slf1 A T 13: 77,100,982 N362K probably benign Het
Smad2 T C 18: 76,299,894 V299A probably damaging Het
Tead2 T C 7: 45,232,310 V84A probably damaging Het
Trp63 C T 16: 25,865,319 R319C probably damaging Het
Vmn1r203 G A 13: 22,524,876 V276I probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp318 G T 17: 46,399,168 V606L probably benign Het
Other mutations in Tnni3k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Tnni3k APN 3 155054555 missense probably benign 0.00
IGL00852:Tnni3k APN 3 155054569 missense probably benign 0.00
IGL01090:Tnni3k APN 3 154939683 missense possibly damaging 0.69
IGL01593:Tnni3k APN 3 154941029 splice site probably null
IGL01724:Tnni3k APN 3 154939626 missense possibly damaging 0.53
IGL01992:Tnni3k APN 3 154962026 missense probably damaging 0.99
IGL02945:Tnni3k APN 3 155037438 missense possibly damaging 0.48
IGL02990:Tnni3k APN 3 154957758 missense probably benign 0.01
IGL03069:Tnni3k APN 3 154941605 splice site probably null
IGL03325:Tnni3k APN 3 154961814 missense probably damaging 1.00
IGL03405:Tnni3k APN 3 154792767 splice site probably benign
R0211:Tnni3k UTSW 3 155055344 start gained probably benign
R0682:Tnni3k UTSW 3 154940028 missense probably damaging 1.00
R0693:Tnni3k UTSW 3 154961972 missense probably damaging 1.00
R0907:Tnni3k UTSW 3 154941679 missense probably damaging 1.00
R1109:Tnni3k UTSW 3 154792777 missense possibly damaging 0.83
R1180:Tnni3k UTSW 3 154875513 missense probably damaging 1.00
R1181:Tnni3k UTSW 3 154875513 missense probably damaging 1.00
R1476:Tnni3k UTSW 3 155030305 missense probably benign 0.05
R1496:Tnni3k UTSW 3 154939658 missense probably damaging 1.00
R1687:Tnni3k UTSW 3 154939626 missense possibly damaging 0.53
R1704:Tnni3k UTSW 3 154827508 missense probably benign 0.27
R1913:Tnni3k UTSW 3 154979199 missense probably benign 0.00
R2343:Tnni3k UTSW 3 154938829 missense probably benign 0.00
R2374:Tnni3k UTSW 3 154786785 missense probably benign 0.12
R2869:Tnni3k UTSW 3 154938750 critical splice donor site probably null
R2869:Tnni3k UTSW 3 154938750 critical splice donor site probably null
R2871:Tnni3k UTSW 3 154938750 critical splice donor site probably null
R2871:Tnni3k UTSW 3 154938750 critical splice donor site probably null
R2872:Tnni3k UTSW 3 154938750 critical splice donor site probably null
R2872:Tnni3k UTSW 3 154938750 critical splice donor site probably null
R2873:Tnni3k UTSW 3 154938750 critical splice donor site probably null
R4858:Tnni3k UTSW 3 154786808 splice site probably null
R5597:Tnni3k UTSW 3 154872128 missense probably damaging 1.00
R5806:Tnni3k UTSW 3 154827611 missense possibly damaging 0.88
R5871:Tnni3k UTSW 3 155030370 missense probably benign 0.23
R6467:Tnni3k UTSW 3 154969285 missense probably damaging 0.97
R6475:Tnni3k UTSW 3 154941058 nonsense probably null
R6882:Tnni3k UTSW 3 154957720 missense possibly damaging 0.49
R6976:Tnni3k UTSW 3 154792776 missense probably benign 0.14
R6986:Tnni3k UTSW 3 154961864 missense probably damaging 1.00
R7207:Tnni3k UTSW 3 154875145 missense probably damaging 1.00
R7539:Tnni3k UTSW 3 154962031 missense probably benign 0.01
R7843:Tnni3k UTSW 3 155038524 missense probably damaging 0.98
R8546:Tnni3k UTSW 3 154792807 missense probably benign
R8787:Tnni3k UTSW 3 154940054 missense probably damaging 0.99
Z1088:Tnni3k UTSW 3 154939670 missense probably damaging 1.00
Z1176:Tnni3k UTSW 3 155038557 nonsense probably null
Posted On2014-05-07