Incidental Mutation 'R1638:Tnik'
ID 173286
Institutional Source Beutler Lab
Gene Symbol Tnik
Ensembl Gene ENSMUSG00000027692
Gene Name TRAF2 and NCK interacting kinase
Synonyms C530008O15Rik, 4831440I19Rik, 1500031A17Rik, C630040K21Rik
MMRRC Submission 039674-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1638 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 28317362-28724734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28719889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1254 (M1254V)
Ref Sequence ENSEMBL: ENSMUSP00000125081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159236] [ENSMUST00000159308] [ENSMUST00000159680] [ENSMUST00000160307] [ENSMUST00000160518] [ENSMUST00000160934] [ENSMUST00000162777] [ENSMUST00000161964] [ENSMUST00000162485]
AlphaFold P83510
Predicted Effect possibly damaging
Transcript: ENSMUST00000159236
AA Change: M1217V

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
AA Change: M1217V

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 possibly damaging
Transcript: ENSMUST00000159308
AA Change: M1170V

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
AA Change: M1170V

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 possibly damaging
Transcript: ENSMUST00000159680
AA Change: M1246V

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
AA Change: M1246V

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 noncoding transcript
Transcript: ENSMUST00000159733
Predicted Effect probably damaging
Transcript: ENSMUST00000160307
AA Change: M1254V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
AA Change: M1254V

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 possibly damaging
Transcript: ENSMUST00000160518
AA Change: M1225V

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
AA Change: M1225V

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: ENSMUST00000162777
AA Change: M1191V
SMART Domains Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
AA Change: M1191V

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 unknown
Transcript: ENSMUST00000161964
AA Change: M1162V
SMART Domains Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
AA Change: M1162V

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 possibly damaging
Transcript: ENSMUST00000162485
AA Change: M1199V

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
AA Change: M1199V

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: ENSMUST00000192205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162037
Meta Mutation Damage Score 0.2059 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 87.8%
Validation Efficiency 99% (79/80)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Adamts13 A G 2: 26,886,595 (GRCm39) E938G possibly damaging Het
Agfg1 A T 1: 82,871,259 (GRCm39) Q497L probably damaging Het
Ahnak A G 19: 8,986,813 (GRCm39) H2699R probably benign Het
Antxrl G T 14: 33,792,453 (GRCm39) probably null Het
Apol7c A T 15: 77,410,418 (GRCm39) V176E probably damaging Het
Arid5b T C 10: 68,113,777 (GRCm39) N87D possibly damaging Het
Atp2c1 A T 9: 105,309,897 (GRCm39) I560N probably damaging Het
Atp2c2 T C 8: 120,482,742 (GRCm39) F868S possibly damaging Het
Blnk G C 19: 40,926,122 (GRCm39) F326L probably benign Het
Bltp1 C T 3: 37,089,961 (GRCm39) R4130* probably null Het
Ckap2 C T 8: 22,665,812 (GRCm39) V412I possibly damaging Het
Clmn A G 12: 104,748,281 (GRCm39) V422A probably benign Het
Ctnnal1 A G 4: 56,813,856 (GRCm39) S638P probably benign Het
Cyp2j5 T C 4: 96,524,052 (GRCm39) S327G probably benign Het
Dhx38 G A 8: 110,280,177 (GRCm39) T871M probably damaging Het
Dmxl1 A T 18: 50,023,834 (GRCm39) K1706* probably null Het
Dnah11 A G 12: 117,979,154 (GRCm39) L2648P possibly damaging Het
Elf2 G A 3: 51,215,530 (GRCm39) T60I probably damaging Het
Fam120b T A 17: 15,622,759 (GRCm39) C246S possibly damaging Het
Fcho2 G T 13: 98,882,403 (GRCm39) T451K possibly damaging Het
Fzd9 T A 5: 135,278,602 (GRCm39) I428F probably damaging Het
Galnt13 T A 2: 54,744,667 (GRCm39) V122E probably damaging Het
Gm21738 T A 14: 19,418,908 (GRCm38) Y8F probably benign Het
Gnptab A G 10: 88,272,029 (GRCm39) I940V possibly damaging Het
Gp2 A G 7: 119,050,721 (GRCm39) probably null Het
Gpr6 A G 10: 40,946,530 (GRCm39) S351P probably benign Het
Gprin1 T C 13: 54,887,689 (GRCm39) E195G possibly damaging Het
Grm8 A T 6: 28,125,882 (GRCm39) Y81* probably null Het
Gtf3c3 A T 1: 54,444,278 (GRCm39) N703K probably damaging Het
Hhipl2 G A 1: 183,208,921 (GRCm39) V495I probably benign Het
Islr G A 9: 58,065,502 (GRCm39) probably benign Het
Lrrc36 T C 8: 106,176,273 (GRCm39) Y216H possibly damaging Het
Macroh2a1 T A 13: 56,252,722 (GRCm39) N87Y probably damaging Het
Me2 A G 18: 73,906,205 (GRCm39) I528T probably benign Het
Mecr A T 4: 131,585,127 (GRCm39) I156F possibly damaging Het
Megf6 A G 4: 154,346,967 (GRCm39) probably benign Het
Mn1 T A 5: 111,569,435 (GRCm39) L1135H probably damaging Het
Naip5 A G 13: 100,349,177 (GRCm39) S1384P probably damaging Het
Nav2 A G 7: 49,102,213 (GRCm39) N337S probably benign Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Neb A T 2: 52,139,293 (GRCm39) H3107Q probably benign Het
Nebl A G 2: 17,381,462 (GRCm39) V738A possibly damaging Het
Nsd2 G A 5: 34,039,464 (GRCm39) R825Q possibly damaging Het
Nsun2 A G 13: 69,775,705 (GRCm39) N383S probably damaging Het
Ntrk3 A T 7: 77,897,036 (GRCm39) M667K probably damaging Het
Or10a48 A C 7: 108,424,442 (GRCm39) C255G probably benign Het
Or11h6 G A 14: 50,880,565 (GRCm39) V276M possibly damaging Het
Or1e29 A G 11: 73,667,974 (GRCm39) Y60H possibly damaging Het
Or6c2 A T 10: 129,362,488 (GRCm39) M131L probably benign Het
Pex6 T C 17: 47,033,558 (GRCm39) V633A probably benign Het
Phactr1 C T 13: 43,110,147 (GRCm39) T95M probably damaging Het
Pik3r4 A G 9: 105,564,408 (GRCm39) D1334G probably damaging Het
Pkhd1l1 A C 15: 44,460,513 (GRCm39) I4241L probably benign Het
Ppwd1 T C 13: 104,356,771 (GRCm39) E248G probably damaging Het
Prepl A C 17: 85,379,509 (GRCm39) M393R probably benign Het
Ptpn6 T C 6: 124,698,148 (GRCm39) S532G probably benign Het
Rnase11 G T 14: 51,287,058 (GRCm39) H165Q possibly damaging Het
Sf1 A G 19: 6,422,090 (GRCm39) N172S possibly damaging Het
Shprh T A 10: 11,032,822 (GRCm39) D269E probably benign Het
Slc16a1 T C 3: 104,556,798 (GRCm39) I61T possibly damaging Het
Slc38a2 A C 15: 96,590,417 (GRCm39) I309S probably damaging Het
Sry C G Y: 2,663,149 (GRCm39) Q170H unknown Het
Stk3 A C 15: 35,008,454 (GRCm39) probably null Het
Tg C A 15: 66,568,015 (GRCm39) C1306* probably null Het
U2surp T C 9: 95,366,280 (GRCm39) E474G possibly damaging Het
Vmn1r224 T A 17: 20,639,587 (GRCm39) F55I probably benign Het
Vmn1r32 A G 6: 66,529,939 (GRCm39) I279T possibly damaging Het
Zc2hc1a A G 3: 7,581,543 (GRCm39) D15G probably benign Het
Zfp827 C A 8: 79,802,975 (GRCm39) P516T possibly damaging Het
Zfyve9 A T 4: 108,542,104 (GRCm39) probably null 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
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
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'- ACCTGGTGCCTTTGACAAGAGC -3'
(R):5'- GATGGGCAACAACTCACAGCATTTG -3'

Sequencing Primer
(F):5'- accctggctgtcttagactc -3'
(R):5'- GAGCACCACATCCTTAGTGA -3'
Posted On 2014-04-24