Incidental Mutation 'R4772:Tnik'
ID 367587
Institutional Source Beutler Lab
Gene Symbol Tnik
Ensembl Gene ENSMUSG00000027692
Gene Name TRAF2 and NCK interacting kinase
Synonyms C530008O15Rik, 4831440I19Rik, 1500031A17Rik, C630040K21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4772 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 28317362-28724734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28661359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 587 (T587S)
Ref Sequence ENSEMBL: ENSMUSP00000124011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159236] [ENSMUST00000159308] [ENSMUST00000159680] [ENSMUST00000160307] [ENSMUST00000160518] [ENSMUST00000160934] [ENSMUST00000161964] [ENSMUST00000162777] [ENSMUST00000162485]
AlphaFold P83510
Predicted Effect probably benign
Transcript: ENSMUST00000159236
AA Change: T587S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
AA Change: T587S

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 probably benign
Transcript: ENSMUST00000159308
AA Change: T532S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
AA Change: T532S

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 probably benign
Transcript: ENSMUST00000159680
AA Change: T616S

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
AA Change: T616S

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 probably benign
Transcript: ENSMUST00000160307
AA Change: T616S

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
AA Change: T616S

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 probably benign
Transcript: ENSMUST00000160518
AA Change: T587S

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
AA Change: T587S

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 benign
Transcript: ENSMUST00000160934
SMART Domains Protein: ENSMUSP00000123859
Gene: ENSMUSG00000027692

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 25 212 2.2e-37 PFAM
Pfam:Pkinase 25 219 5.9e-52 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000161964
AA Change: T532S
SMART Domains Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
AA Change: T532S

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: ENSMUST00000162777
AA Change: T561S
SMART Domains Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
AA Change: T561S

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 probably benign
Transcript: ENSMUST00000162485
AA Change: T561S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
AA Change: T561S

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 noncoding transcript
Transcript: ENSMUST00000162037
Meta Mutation Damage Score 0.0606 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 95% (74/78)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,265,339 (GRCm39) probably null Het
Adamts19 A G 18: 58,970,848 (GRCm39) Q144R possibly damaging Het
Adgrb3 C A 1: 25,570,956 (GRCm39) C507F probably damaging Het
Atg9b T C 5: 24,590,237 (GRCm39) *923W probably null Het
Atp13a4 T C 16: 29,239,653 (GRCm39) probably benign Het
Baz2b G T 2: 59,788,795 (GRCm39) R697S probably damaging Het
Bicdl1 A G 5: 115,799,537 (GRCm39) I184T probably benign Het
Bpifb4 C T 2: 153,784,903 (GRCm39) L204F possibly damaging Het
Cep120 C T 18: 53,851,561 (GRCm39) R577Q probably damaging Het
Cplx4 T C 18: 66,103,048 (GRCm39) E24G possibly damaging Het
Dcxr T C 11: 120,616,923 (GRCm39) T147A probably benign Het
Dnajc10 C A 2: 80,170,870 (GRCm39) H454N probably damaging Het
Dsp G T 13: 38,351,504 (GRCm39) G108* probably null Het
Entpd6 T A 2: 150,609,014 (GRCm39) I366K probably damaging Het
Fam111a A G 19: 12,565,057 (GRCm39) K269E probably benign Het
Grid2ip T G 5: 143,361,455 (GRCm39) V222G possibly damaging Het
Hmcn2 T G 2: 31,335,326 (GRCm39) V4421G probably benign Het
Ifi207 T C 1: 173,555,253 (GRCm39) T817A probably damaging Het
Irak2 A T 6: 113,670,683 (GRCm39) E533V probably damaging Het
Katnip A G 7: 125,464,523 (GRCm39) S1297G probably damaging Het
Kbtbd6 T C 14: 79,689,596 (GRCm39) F97S probably damaging Het
Kctd14 A T 7: 97,106,883 (GRCm39) E99V probably damaging Het
Klhl10 A T 11: 100,338,557 (GRCm39) Y432F probably benign Het
Lrrc49 T C 9: 60,592,335 (GRCm39) N53S possibly damaging Het
Mief2 T A 11: 60,621,288 (GRCm39) probably benign Het
Mog A T 17: 37,334,049 (GRCm39) S15T unknown Het
Mpi T C 9: 57,452,181 (GRCm39) D365G probably damaging Het
Mpp7 A G 18: 7,379,983 (GRCm39) probably null Het
Nes A G 3: 87,883,486 (GRCm39) T582A probably benign Het
Nlrp14 A G 7: 106,780,393 (GRCm39) D5G probably benign Het
Nr1i3 C T 1: 171,044,719 (GRCm39) T218I probably damaging Het
Nup43 C T 10: 7,554,433 (GRCm39) R339* probably null Het
Nup58 T A 14: 60,457,471 (GRCm39) R577S probably benign Het
Olfr908 C T 9: 38,427,897 (GRCm39) probably benign Het
Or4l15 AAATTTGAA AAA 14: 50,198,452 (GRCm39) probably benign Het
Or52n4b T A 7: 108,144,092 (GRCm39) M120K probably damaging Het
Or5d35 T A 2: 87,855,207 (GRCm39) I47K probably damaging Het
Or6c38 A T 10: 128,929,537 (GRCm39) V102D possibly damaging Het
Or9g20 G A 2: 85,630,338 (GRCm39) S92F probably damaging Het
Orc1 T C 4: 108,436,765 (GRCm39) probably benign Het
Pax6 C A 2: 105,526,847 (GRCm39) P251Q probably benign Het
Phactr3 C T 2: 177,925,729 (GRCm39) R330W probably damaging Het
Phldb1 G A 9: 44,622,324 (GRCm39) R81W probably damaging Het
Pip5k1c C T 10: 81,151,774 (GRCm39) P656L probably benign Het
Pkn3 T G 2: 29,974,692 (GRCm39) probably null Het
Plcb2 T A 2: 118,543,615 (GRCm39) H752L probably benign Het
Plch1 G A 3: 63,660,746 (GRCm39) T291M probably damaging Het
Plekhg1 A T 10: 3,823,127 (GRCm39) M32L probably benign Het
Plekhg1 A T 10: 3,823,130 (GRCm39) T33S probably damaging Het
Plk4 A G 3: 40,759,625 (GRCm39) T174A probably damaging Het
Ppip5k2 C A 1: 97,648,792 (GRCm39) probably benign Het
Prl2a1 G A 13: 27,988,961 (GRCm39) V29M probably benign Het
R3hcc1l T C 19: 42,571,996 (GRCm39) probably benign Het
Rasa3 C T 8: 13,648,289 (GRCm39) G125D probably damaging Het
Sema3f A T 9: 107,566,919 (GRCm39) Y136* probably null Het
Slc13a5 T A 11: 72,141,672 (GRCm39) probably null Het
Slc16a1 T C 3: 104,560,880 (GRCm39) V395A possibly damaging Het
Sparcl1 C T 5: 104,236,356 (GRCm39) A466T probably benign Het
Srrm1 G A 4: 135,069,690 (GRCm39) probably benign Het
Styxl1 G A 5: 135,797,755 (GRCm39) R50* probably null Het
Tex264 T A 9: 106,550,901 (GRCm39) I99F possibly damaging Het
Tgtp2 T C 11: 48,949,811 (GRCm39) T254A probably damaging Het
Tmem245 A C 4: 56,937,989 (GRCm39) probably null Het
Tpr T G 1: 150,288,864 (GRCm39) S648A possibly damaging Het
Ttn T C 2: 76,596,313 (GRCm39) E18454G probably damaging Het
Utp20 A C 10: 88,645,797 (GRCm39) H527Q probably benign Het
Vmn1r1 A T 1: 181,985,111 (GRCm39) S185T probably benign Het
Vps54 C T 11: 21,262,952 (GRCm39) H680Y probably damaging Het
Vwa5b2 A G 16: 20,419,553 (GRCm39) probably null Het
Wscd1 T C 11: 71,662,802 (GRCm39) probably null Het
Zbtb41 C T 1: 139,375,152 (GRCm39) P871S probably damaging Het
Zcchc4 T C 5: 52,953,549 (GRCm39) L186P possibly damaging Het
Zdhhc13 A G 7: 48,449,621 (GRCm39) Y73C probably benign Het
Zfp12 A G 5: 143,225,755 (GRCm39) E21G 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
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
R6457:Tnik UTSW 3 28,593,597 (GRCm39) missense probably damaging 1.00
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'- TGAAGGGTTTCCAGATGTGCTC -3'
(R):5'- ATGCTACCTTTGGTGGAATGTC -3'

Sequencing Primer
(F):5'- TGAAAACTGCCCTGTCGTAG -3'
(R):5'- GTCTTCTTCCTGTCGTAACCAAGAG -3'
Posted On 2015-12-29