Incidental Mutation 'R6457:Tnik'
ID 516509
Institutional Source Beutler Lab
Gene Symbol Tnik
Ensembl Gene ENSMUSG00000027692
Gene Name TRAF2 and NCK interacting kinase
Synonyms C530008O15Rik, 4831440I19Rik, 1500031A17Rik, C630040K21Rik
MMRRC Submission 044592-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6457 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 28317362-28724734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28593597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 151 (H151L)
Ref Sequence ENSEMBL: ENSMUSP00000124726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159236] [ENSMUST00000159308] [ENSMUST00000159680] [ENSMUST00000160307] [ENSMUST00000160518] [ENSMUST00000160934] [ENSMUST00000161964] [ENSMUST00000162485] [ENSMUST00000162777]
AlphaFold P83510
Predicted Effect possibly damaging
Transcript: ENSMUST00000159236
AA Change: H151L

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
AA Change: H151L

DomainStartEndE-ValueType
S_TKc 25 289 1.23e-96 SMART
low complexity region 317 340 N/A INTRINSIC
coiled coil region 360 482 N/A INTRINSIC
low complexity region 691 726 N/A INTRINSIC
low complexity region 793 812 N/A INTRINSIC
low complexity region 951 958 N/A INTRINSIC
CNH 1005 1303 1.92e-117 SMART
Predicted Effect unknown
Transcript: ENSMUST00000159308
AA Change: H151L
SMART Domains Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
AA Change: H151L

DomainStartEndE-ValueType
S_TKc 25 289 1.23e-96 SMART
low complexity region 317 340 N/A INTRINSIC
coiled coil region 360 482 N/A INTRINSIC
low complexity region 636 671 N/A INTRINSIC
low complexity region 746 765 N/A INTRINSIC
low complexity region 904 911 N/A INTRINSIC
CNH 958 1256 1.92e-117 SMART
Predicted Effect unknown
Transcript: ENSMUST00000159680
AA Change: H151L
SMART Domains Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
AA Change: H151L

DomainStartEndE-ValueType
S_TKc 25 289 1.23e-96 SMART
low complexity region 317 340 N/A INTRINSIC
coiled coil region 360 511 N/A INTRINSIC
low complexity region 720 755 N/A INTRINSIC
low complexity region 822 841 N/A INTRINSIC
low complexity region 980 987 N/A INTRINSIC
CNH 1034 1332 1.92e-117 SMART
Predicted Effect unknown
Transcript: ENSMUST00000160307
AA Change: H151L
SMART Domains Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
AA Change: H151L

DomainStartEndE-ValueType
S_TKc 25 289 1.23e-96 SMART
low complexity region 317 340 N/A INTRINSIC
coiled coil region 360 511 N/A INTRINSIC
low complexity region 720 755 N/A INTRINSIC
low complexity region 830 849 N/A INTRINSIC
low complexity region 988 995 N/A INTRINSIC
CNH 1042 1340 1.92e-117 SMART
Predicted Effect unknown
Transcript: ENSMUST00000160518
AA Change: H151L
SMART Domains Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
AA Change: H151L

DomainStartEndE-ValueType
S_TKc 25 289 5.9e-99 SMART
low complexity region 317 340 N/A INTRINSIC
coiled coil region 360 482 N/A INTRINSIC
low complexity region 691 726 N/A INTRINSIC
low complexity region 801 820 N/A INTRINSIC
low complexity region 959 966 N/A INTRINSIC
CNH 1013 1311 9.3e-120 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160934
AA Change: H151L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123859
Gene: ENSMUSG00000027692
AA Change: H151L

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 25 212 2.2e-37 PFAM
Pfam:Pkinase 25 219 5.9e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161423
Predicted Effect probably damaging
Transcript: ENSMUST00000161964
AA Change: H151L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
AA Change: H151L

DomainStartEndE-ValueType
S_TKc 25 289 1.23e-96 SMART
low complexity region 317 340 N/A INTRINSIC
coiled coil region 360 482 N/A INTRINSIC
low complexity region 636 671 N/A INTRINSIC
low complexity region 738 757 N/A INTRINSIC
low complexity region 896 903 N/A INTRINSIC
CNH 950 1248 1.92e-117 SMART
Predicted Effect unknown
Transcript: ENSMUST00000162485
AA Change: H151L
SMART Domains Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
AA Change: H151L

DomainStartEndE-ValueType
S_TKc 25 289 1.23e-96 SMART
low complexity region 317 340 N/A INTRINSIC
coiled coil region 360 511 N/A INTRINSIC
low complexity region 665 700 N/A INTRINSIC
low complexity region 775 794 N/A INTRINSIC
low complexity region 933 940 N/A INTRINSIC
CNH 987 1285 1.92e-117 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162777
AA Change: H151L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
AA Change: H151L

DomainStartEndE-ValueType
S_TKc 25 289 1.23e-96 SMART
low complexity region 317 340 N/A INTRINSIC
coiled coil region 360 511 N/A INTRINSIC
low complexity region 665 700 N/A INTRINSIC
low complexity region 767 786 N/A INTRINSIC
low complexity region 925 932 N/A INTRINSIC
CNH 979 1277 1.92e-117 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193721
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 97% (63/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Germinal center kinases (GCKs), such as TNIK, are characterized by an N-terminal kinase domain and a C-terminal GCK domain that serves a regulatory function (Fu et al., 1999 [PubMed 10521462]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired postsynaptic signaling and cognitive function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,772,383 (GRCm39) V524E probably damaging Het
Acer2 T A 4: 86,818,808 (GRCm39) M152K probably damaging Het
Actn3 T C 19: 4,921,876 (GRCm39) D130G probably damaging Het
Ank1 T A 8: 23,577,983 (GRCm39) F211Y probably damaging Het
Ankfn1 C T 11: 89,282,670 (GRCm39) A326T probably benign Het
Ankrd11 G A 8: 123,635,503 (GRCm39) R44C probably damaging Het
Ankrd46 A G 15: 36,484,217 (GRCm39) probably benign Het
Aurkb G A 11: 68,939,172 (GRCm39) E132K possibly damaging Het
Bsdc1 C T 4: 129,359,069 (GRCm39) T9I possibly damaging Het
Card14 C T 11: 119,230,428 (GRCm39) R767* probably null Het
Ccdc82 T A 9: 13,272,745 (GRCm39) F411L possibly damaging Het
Col12a1 C T 9: 79,552,973 (GRCm39) G2106D probably damaging Het
Col27a1 T A 4: 63,237,701 (GRCm39) probably benign Het
Cox10 A G 11: 63,855,198 (GRCm39) L361P probably damaging Het
Cox18 A G 5: 90,371,548 (GRCm39) I84T probably benign Het
Dhrs3 T C 4: 144,646,522 (GRCm39) S125P probably damaging Het
Fbxl15 A G 19: 46,317,765 (GRCm39) H149R probably benign Het
Flg2 T A 3: 93,127,789 (GRCm39) S2234T unknown Het
Gtf2e1 A C 16: 37,356,698 (GRCm39) probably null Het
H2-Q7 A T 17: 35,658,655 (GRCm39) S98C probably damaging Het
Hcn2 G T 10: 79,569,607 (GRCm39) E536* probably null Het
Kat6b A T 14: 21,720,748 (GRCm39) H1700L probably damaging Het
Klhl3 C T 13: 58,248,192 (GRCm39) V35I probably benign Het
Krt34 A T 11: 99,930,916 (GRCm39) L162Q probably damaging Het
Ly9 A G 1: 171,416,663 (GRCm39) S644P probably damaging Het
Magi1 A T 6: 93,676,620 (GRCm39) V685E probably damaging Het
Malrd1 A G 2: 15,531,408 (GRCm39) probably benign Het
Malrd1 A T 2: 15,672,740 (GRCm39) H599L probably benign Het
Matn2 T A 15: 34,426,380 (GRCm39) C631S probably damaging Het
Megf8 A T 7: 25,049,120 (GRCm39) D1739V probably damaging Het
Mlf1 G A 3: 67,300,277 (GRCm39) R98Q probably benign Het
Mprip T A 11: 59,649,815 (GRCm39) I1173K possibly damaging Het
Mrc1 A G 2: 14,275,016 (GRCm39) D439G probably damaging Het
Mroh5 A T 15: 73,662,691 (GRCm39) W208R probably damaging Het
Ms4a5 T G 19: 11,256,646 (GRCm39) I84L probably benign Het
Myt1 G A 2: 181,405,218 (GRCm39) probably null Het
Nbea T A 3: 55,907,990 (GRCm39) H1374L probably damaging Het
Nbeal1 T A 1: 60,292,633 (GRCm39) I1095K probably benign Het
Nolc1 A G 19: 46,071,509 (GRCm39) probably benign Het
Nr5a2 A G 1: 136,887,976 (GRCm39) L18P probably benign Het
Nup188 G T 2: 30,212,199 (GRCm39) C562F probably damaging Het
Obscn A G 11: 58,971,597 (GRCm39) V2415A probably damaging Het
Pacsin2 A T 15: 83,263,879 (GRCm39) probably null Het
Pias3 A G 3: 96,606,839 (GRCm39) H34R possibly damaging Het
Ppfia2 T C 10: 106,729,361 (GRCm39) V903A probably damaging Het
Pramel1 T A 4: 143,123,275 (GRCm39) L84Q probably damaging Het
Pramel6 G A 2: 87,339,782 (GRCm39) C182Y probably damaging Het
Prdm4 A G 10: 85,743,896 (GRCm39) Y120H probably damaging Het
Prss28 A G 17: 25,530,331 (GRCm39) M212V probably benign Het
Rbp3 G T 14: 33,677,224 (GRCm39) G391* probably null Het
Rc3h2 C T 2: 37,301,151 (GRCm39) probably null Het
Ret A G 6: 118,150,582 (GRCm39) F645L probably benign Het
Saxo5 T C 8: 3,529,268 (GRCm39) L251P probably damaging Het
Sgsm2 A G 11: 74,755,995 (GRCm39) S402P possibly damaging Het
Shc3 T A 13: 51,636,915 (GRCm39) probably null Het
Slc25a16 A G 10: 62,776,938 (GRCm39) N246S probably benign Het
Snrpd1 T A 18: 10,623,694 (GRCm39) H26Q probably benign Het
Thsd1 A G 8: 22,733,363 (GRCm39) T137A probably damaging Het
Tns1 T A 1: 73,957,209 (GRCm39) K1725N probably damaging Het
Tomm40l T A 1: 171,048,161 (GRCm39) T147S probably damaging Het
Tomm6 G T 17: 47,998,932 (GRCm39) probably benign Het
Trp53 G A 11: 69,480,440 (GRCm39) C272Y probably damaging Het
Trpm7 A T 2: 126,649,214 (GRCm39) V1492E probably benign Het
Tsen2 G A 6: 115,536,592 (GRCm39) R116H probably benign Het
Uvrag A G 7: 98,555,726 (GRCm39) F456S probably damaging Het
Vmn1r86 A T 7: 12,836,279 (GRCm39) M199K possibly damaging Het
Vmn2r4 C T 3: 64,317,378 (GRCm39) C120Y probably damaging Het
Other mutations in Tnik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Tnik APN 3 28,708,367 (GRCm39) missense probably damaging 1.00
IGL00726:Tnik APN 3 28,587,047 (GRCm39) missense probably damaging 1.00
IGL01022:Tnik APN 3 28,679,377 (GRCm39) splice site probably null
IGL01145:Tnik APN 3 28,658,316 (GRCm39) intron probably benign
IGL01664:Tnik APN 3 28,692,628 (GRCm39) missense probably damaging 1.00
IGL01843:Tnik APN 3 28,625,007 (GRCm39) splice site probably null
IGL02378:Tnik APN 3 28,692,608 (GRCm39) nonsense probably null
IGL02448:Tnik APN 3 28,675,226 (GRCm39) missense probably null 0.01
IGL02756:Tnik APN 3 28,596,179 (GRCm39) missense probably damaging 1.00
IGL03332:Tnik APN 3 28,720,304 (GRCm39) missense probably damaging 1.00
delightful UTSW 3 28,658,334 (GRCm39) missense probably damaging 1.00
Hottie UTSW 3 28,317,792 (GRCm39) start codon destroyed probably null 0.93
Knockout UTSW 3 28,715,927 (GRCm39) missense possibly damaging 0.91
Looker UTSW 3 28,715,853 (GRCm39) nonsense probably null
Lovely UTSW 3 28,666,119 (GRCm39) critical splice donor site probably null
Usher UTSW 3 28,618,246 (GRCm39) missense possibly damaging 0.61
R0135:Tnik UTSW 3 28,661,394 (GRCm39) missense possibly damaging 0.67
R0418:Tnik UTSW 3 28,625,029 (GRCm39) nonsense probably null
R0540:Tnik UTSW 3 28,704,308 (GRCm39) missense probably damaging 1.00
R0549:Tnik UTSW 3 28,625,069 (GRCm39) missense possibly damaging 0.87
R0556:Tnik UTSW 3 28,679,367 (GRCm39) missense possibly damaging 0.95
R0586:Tnik UTSW 3 28,631,510 (GRCm39) splice site probably benign
R0607:Tnik UTSW 3 28,704,308 (GRCm39) missense probably damaging 1.00
R0842:Tnik UTSW 3 28,648,235 (GRCm39) missense possibly damaging 0.72
R1068:Tnik UTSW 3 28,587,124 (GRCm39) missense probably damaging 1.00
R1171:Tnik UTSW 3 28,587,089 (GRCm39) missense probably damaging 1.00
R1597:Tnik UTSW 3 28,658,418 (GRCm39) missense probably damaging 1.00
R1638:Tnik UTSW 3 28,719,889 (GRCm39) missense probably damaging 0.99
R1652:Tnik UTSW 3 28,658,442 (GRCm39) missense probably benign 0.22
R1996:Tnik UTSW 3 28,719,829 (GRCm39) missense probably damaging 1.00
R2333:Tnik UTSW 3 28,587,145 (GRCm39) missense probably damaging 1.00
R2426:Tnik UTSW 3 28,700,830 (GRCm39) missense probably damaging 1.00
R2509:Tnik UTSW 3 28,722,064 (GRCm39) missense probably damaging 1.00
R3774:Tnik UTSW 3 28,692,568 (GRCm39) missense probably damaging 0.98
R3775:Tnik UTSW 3 28,692,568 (GRCm39) missense probably damaging 0.98
R4007:Tnik UTSW 3 28,658,430 (GRCm39) missense probably damaging 1.00
R4119:Tnik UTSW 3 28,720,324 (GRCm39) missense probably damaging 1.00
R4209:Tnik UTSW 3 28,413,214 (GRCm39) splice site probably benign
R4441:Tnik UTSW 3 28,618,246 (GRCm39) missense possibly damaging 0.61
R4611:Tnik UTSW 3 28,596,249 (GRCm39) critical splice donor site probably null
R4714:Tnik UTSW 3 28,648,226 (GRCm39) missense possibly damaging 0.53
R4772:Tnik UTSW 3 28,661,359 (GRCm39) missense probably benign 0.09
R4829:Tnik UTSW 3 28,593,690 (GRCm39) intron probably benign
R4839:Tnik UTSW 3 28,650,224 (GRCm39) missense possibly damaging 0.86
R4898:Tnik UTSW 3 28,704,235 (GRCm39) missense probably damaging 1.00
R5029:Tnik UTSW 3 28,719,993 (GRCm39) splice site probably null
R5278:Tnik UTSW 3 28,704,209 (GRCm39) missense probably damaging 1.00
R5307:Tnik UTSW 3 28,596,121 (GRCm39) missense probably damaging 1.00
R5330:Tnik UTSW 3 28,596,167 (GRCm39) missense probably damaging 1.00
R5375:Tnik UTSW 3 28,648,241 (GRCm39) missense probably benign 0.02
R5459:Tnik UTSW 3 28,715,890 (GRCm39) missense probably damaging 1.00
R5708:Tnik UTSW 3 28,666,120 (GRCm39) critical splice donor site probably null
R5749:Tnik UTSW 3 28,648,241 (GRCm39) missense probably benign 0.02
R5751:Tnik UTSW 3 28,648,241 (GRCm39) missense probably benign 0.02
R5780:Tnik UTSW 3 28,648,241 (GRCm39) missense probably benign 0.02
R5837:Tnik UTSW 3 28,722,202 (GRCm39) unclassified probably benign
R5969:Tnik UTSW 3 28,675,097 (GRCm39) missense probably damaging 1.00
R6244:Tnik UTSW 3 28,704,328 (GRCm39) missense probably damaging 1.00
R6273:Tnik UTSW 3 28,631,649 (GRCm39) missense possibly damaging 0.94
R6464:Tnik UTSW 3 28,666,119 (GRCm39) critical splice donor site probably null
R6473:Tnik UTSW 3 28,317,792 (GRCm39) start codon destroyed probably null 0.93
R6737:Tnik UTSW 3 28,650,235 (GRCm39) missense possibly damaging 0.72
R7049:Tnik UTSW 3 28,715,853 (GRCm39) nonsense probably null
R7237:Tnik UTSW 3 28,692,568 (GRCm39) missense probably damaging 0.98
R7267:Tnik UTSW 3 28,700,776 (GRCm39) missense probably damaging 0.99
R7445:Tnik UTSW 3 28,718,058 (GRCm39) splice site probably null
R7499:Tnik UTSW 3 28,684,743 (GRCm39) missense possibly damaging 0.47
R7629:Tnik UTSW 3 28,715,877 (GRCm39) missense probably damaging 0.96
R7654:Tnik UTSW 3 28,658,334 (GRCm39) missense probably damaging 1.00
R7886:Tnik UTSW 3 28,720,288 (GRCm39) missense probably damaging 1.00
R8096:Tnik UTSW 3 28,715,927 (GRCm39) missense possibly damaging 0.91
R8210:Tnik UTSW 3 28,658,482 (GRCm39) missense possibly damaging 0.95
R8233:Tnik UTSW 3 28,609,086 (GRCm39) missense unknown
R8386:Tnik UTSW 3 28,317,823 (GRCm39) missense unknown
R8399:Tnik UTSW 3 28,548,159 (GRCm39) missense unknown
R8490:Tnik UTSW 3 28,650,321 (GRCm39) missense probably damaging 0.97
R8539:Tnik UTSW 3 28,596,152 (GRCm39) missense probably damaging 1.00
R8751:Tnik UTSW 3 28,666,057 (GRCm39) missense probably damaging 0.98
R8804:Tnik UTSW 3 28,648,202 (GRCm39) missense unknown
R8966:Tnik UTSW 3 28,587,044 (GRCm39) missense unknown
R8998:Tnik UTSW 3 28,719,920 (GRCm39) missense probably damaging 1.00
R8999:Tnik UTSW 3 28,719,920 (GRCm39) missense probably damaging 1.00
R9016:Tnik UTSW 3 28,692,544 (GRCm39) missense probably damaging 1.00
R9154:Tnik UTSW 3 28,704,235 (GRCm39) missense probably damaging 0.99
R9284:Tnik UTSW 3 28,593,570 (GRCm39) missense unknown
R9290:Tnik UTSW 3 28,675,124 (GRCm39) missense probably benign 0.00
R9411:Tnik UTSW 3 28,684,754 (GRCm39) missense probably damaging 1.00
R9484:Tnik UTSW 3 28,649,093 (GRCm39) missense unknown
X0022:Tnik UTSW 3 28,722,100 (GRCm39) missense probably damaging 1.00
Z1176:Tnik UTSW 3 28,661,477 (GRCm39) missense probably damaging 0.96
Z1176:Tnik UTSW 3 28,658,473 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTCAGCATACAGTCATGTG -3'
(R):5'- CTTTCATCTTTGGGGAAATGCC -3'

Sequencing Primer
(F):5'- ATAGTGGCCTGTAGCTCAGCTC -3'
(R):5'- GGAAATGCCCCACCCCC -3'
Posted On 2018-05-21