Incidental Mutation 'R6976:Tnni3k'
ID 542450
Institutional Source Beutler Lab
Gene Symbol Tnni3k
Ensembl Gene ENSMUSG00000040086
Gene Name TNNI3 interacting kinase
Synonyms Cark, D830019J24Rik
MMRRC Submission 045382-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.279) question?
Stock # R6976 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 154491928-154761044 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 154498413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 809 (Y809H)
Ref Sequence ENSEMBL: ENSMUSP00000070561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064076] [ENSMUST00000143410]
AlphaFold Q5GIG6
Predicted Effect probably benign
Transcript: ENSMUST00000064076
AA Change: Y809H

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000070561
Gene: ENSMUSG00000040086
AA Change: Y809H

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,397,929 (GRCm39) probably null Het
Adamts4 G T 1: 171,079,877 (GRCm39) probably benign Het
Adgrv1 T A 13: 81,669,116 (GRCm39) K2480M probably damaging Het
Ankhd1 A C 18: 36,781,307 (GRCm39) S2120R probably benign Het
Ash1l T A 3: 88,888,964 (GRCm39) V281E possibly damaging Het
Bdh1 G A 16: 31,256,847 (GRCm39) A35T probably benign Het
Brpf3 A G 17: 29,054,751 (GRCm39) M1098V probably damaging Het
Cel G A 2: 28,446,854 (GRCm39) S439F probably damaging Het
Dnah11 T C 12: 118,162,378 (GRCm39) S64G probably benign Het
Dpp7 T C 2: 25,244,836 (GRCm39) probably null Het
Fam83c T A 2: 155,672,157 (GRCm39) Y426F possibly damaging Het
Fasn A G 11: 120,710,693 (GRCm39) I322T probably damaging Het
Glod4 A G 11: 76,134,406 (GRCm39) F22S probably damaging Het
Gm3127 A G 14: 15,432,190 (GRCm39) T231A possibly damaging Het
Gm49383 A G 12: 69,243,730 (GRCm39) S444P possibly damaging Het
Gnaz T C 10: 74,827,268 (GRCm39) S7P possibly damaging Het
Grin2b C T 6: 135,757,198 (GRCm39) S421N probably benign Het
Grm1 T C 10: 10,564,924 (GRCm39) D1128G probably benign Het
Hoxb13 A G 11: 96,087,044 (GRCm39) T284A probably benign Het
Il9r G A 11: 32,143,177 (GRCm39) Q260* probably null Het
Lrrfip1 T A 1: 91,042,737 (GRCm39) C381S probably benign Het
Mitd1 A T 1: 37,921,778 (GRCm39) D85E probably benign Het
Muc4 G A 16: 32,582,892 (GRCm39) D2556N possibly damaging Het
Nlrc4 A G 17: 74,752,934 (GRCm39) I483T probably damaging Het
Or13e8 A G 4: 43,697,170 (GRCm39) M1T probably null Het
Or2ag17 A T 7: 106,389,434 (GRCm39) M258K probably damaging Het
Or8g4 A G 9: 39,662,540 (GRCm39) N286S probably damaging Het
Pcdhb7 C A 18: 37,476,631 (GRCm39) A589E probably benign Het
Pcdhgb5 G A 18: 37,864,321 (GRCm39) E39K probably damaging Het
Pja2 T C 17: 64,615,954 (GRCm39) K314E probably damaging Het
Plcb1 A G 2: 135,104,159 (GRCm39) E276G possibly damaging Het
Ppp2r5c A G 12: 110,510,579 (GRCm39) E122G probably damaging Het
Prrc2c A T 1: 162,520,413 (GRCm39) N732K probably damaging Het
Rb1cc1 T A 1: 6,333,126 (GRCm39) D1348E probably benign Het
Sh3rf1 G T 8: 61,814,766 (GRCm39) E442* probably null Het
Snapc1 A G 12: 74,016,974 (GRCm39) D204G probably damaging Het
Sry C T Y: 2,662,938 (GRCm39) D241N unknown Het
Strn4 T A 7: 16,564,279 (GRCm39) M303K probably benign Het
Tas2r118 A G 6: 23,969,470 (GRCm39) I197T probably benign Het
Tnpo3 A T 6: 29,572,594 (GRCm39) C419* probably null Het
Trpm6 T C 19: 18,760,527 (GRCm39) S143P probably benign Het
Ttc23l A T 15: 10,537,666 (GRCm39) C201* probably null Het
Ubr4 A G 4: 139,120,388 (GRCm39) N271S probably damaging Het
Vmn1r70 T C 7: 10,367,971 (GRCm39) M134T probably benign Het
Vmn2r27 C T 6: 124,201,312 (GRCm39) W215* probably null Het
Xirp1 A T 9: 119,846,984 (GRCm39) M633K probably damaging Het
Zfp174 T C 16: 3,665,804 (GRCm39) I23T possibly damaging Het
Zfp536 T A 7: 37,179,828 (GRCm39) S926C probably damaging Het
Zfp943 T C 17: 22,209,922 (GRCm39) S65P possibly damaging Het
Other mutations in Tnni3k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Tnni3k APN 3 154,760,192 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- CAATACTGTCACTTGTGCATCC -3'
(R):5'- CGCGTTGACATTTCTTGGGATC -3'

Sequencing Primer
(F):5'- GTGCATCCTTACACACATGC -3'
(R):5'- CGTTGACATTTCTTGGGATCTATGC -3'
Posted On 2018-11-28