Incidental Mutation 'R8751:Tnik'
ID 663826
Institutional Source Beutler Lab
Gene Symbol Tnik
Ensembl Gene ENSMUSG00000027692
Gene Name TRAF2 and NCK interacting kinase
Synonyms C530008O15Rik, 4831440I19Rik, 1500031A17Rik, C630040K21Rik
MMRRC Submission 068594-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8751 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 28317362-28724734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28666057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 687 (N687D)
Ref Sequence ENSEMBL: ENSMUSP00000125081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159236] [ENSMUST00000159308] [ENSMUST00000159680] [ENSMUST00000160307] [ENSMUST00000160518] [ENSMUST00000160934] [ENSMUST00000161964] [ENSMUST00000162485] [ENSMUST00000162777]
AlphaFold P83510
Predicted Effect probably damaging
Transcript: ENSMUST00000159236
AA Change: N658D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
AA Change: N658D

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: N603D

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
AA Change: N603D

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 damaging
Transcript: ENSMUST00000159680
AA Change: N687D

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
AA Change: N687D

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 damaging
Transcript: ENSMUST00000160307
AA Change: N687D

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
AA Change: N687D

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: N658D

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
AA Change: N658D

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: N603D
SMART Domains Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
AA Change: N603D

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: N632D

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
AA Change: N632D

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 unknown
Transcript: ENSMUST00000162777
AA Change: N632D
SMART Domains Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
AA Change: N632D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.2%
Validation Efficiency
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T A 15: 11,215,813 (GRCm39) I278N probably damaging Het
Adcy9 A G 16: 4,129,492 (GRCm39) W702R probably damaging Het
Adgrf5 G A 17: 43,748,574 (GRCm39) V468I possibly damaging Het
Ahnak A C 19: 8,987,509 (GRCm39) K2931T probably damaging Het
Ank3 C T 10: 69,761,849 (GRCm39) probably benign Het
Birc6 G A 17: 74,955,135 (GRCm39) V3480I probably damaging Het
Bpifa5 A T 2: 154,007,432 (GRCm39) I125L probably benign Het
Catsperg2 T C 7: 29,404,744 (GRCm39) D773G possibly damaging Het
Ccm2l A T 2: 152,909,695 (GRCm39) I16F probably benign Het
Cep72 G A 13: 74,198,303 (GRCm39) S359F possibly damaging Het
Col1a1 A G 11: 94,838,100 (GRCm39) N844S unknown Het
Col7a1 C T 9: 108,796,730 (GRCm39) P1623S possibly damaging Het
Crybg1 T C 10: 43,880,838 (GRCm39) K117E probably benign Het
Csmd3 A G 15: 47,845,402 (GRCm39) C54R Het
Dlg1 A G 16: 31,600,648 (GRCm39) T211A probably benign Het
Emc1 C A 4: 139,097,279 (GRCm39) H724N possibly damaging Het
Epg5 A C 18: 78,008,223 (GRCm39) N784H probably benign Het
Epg5 T A 18: 78,008,225 (GRCm39) N784K probably benign Het
Epg5 A T 18: 78,008,224 (GRCm39) N784I possibly damaging Het
Erc2 A G 14: 27,802,145 (GRCm39) E771G possibly damaging Het
Exo1 T C 1: 175,719,678 (GRCm39) V241A probably benign Het
Fat4 A G 3: 38,946,002 (GRCm39) T1632A probably benign Het
Fbxo21 T A 5: 118,140,127 (GRCm39) M529K probably damaging Het
Fhad1 T C 4: 141,646,134 (GRCm39) E276G probably benign Het
Frem1 G A 4: 82,889,015 (GRCm39) T1069I probably damaging Het
Gapvd1 A C 2: 34,568,078 (GRCm39) F1429V probably damaging Het
Gbp9 T C 5: 105,229,117 (GRCm39) E510G possibly damaging Het
Gm17087 A T 17: 8,785,510 (GRCm39) H64Q probably damaging Het
Gm19965 A T 1: 116,749,867 (GRCm39) Y516F unknown Het
Hdac5 A T 11: 102,109,280 (GRCm39) I38N probably benign Het
Hectd4 T A 5: 121,501,838 (GRCm39) C4190* probably null Het
Helb A T 10: 119,925,412 (GRCm39) D988E probably benign Het
Herc6 C T 6: 57,639,359 (GRCm39) S909L probably damaging Het
Ice1 A T 13: 70,751,010 (GRCm39) V1692E probably damaging Het
Ino80 A G 2: 119,237,389 (GRCm39) Y1107H probably benign Het
Kif9 A T 9: 110,330,724 (GRCm39) Y350F probably benign Het
Lct T A 1: 128,221,534 (GRCm39) T1570S probably benign Het
Lias T A 5: 65,557,193 (GRCm39) N203K probably benign Het
Lrrtm4 A G 6: 79,999,092 (GRCm39) N168S probably damaging Het
Ltf A T 9: 110,860,192 (GRCm39) K538* probably null Het
Lysmd4 A G 7: 66,875,787 (GRCm39) D150G probably benign Het
Magi2 A G 5: 20,739,462 (GRCm39) D572G probably benign Het
Meiob T C 17: 25,047,008 (GRCm39) probably null Het
Ncor2 T C 5: 125,115,964 (GRCm39) Y130C Het
Ntmt2 T A 1: 163,544,738 (GRCm39) T82S probably benign Het
Ofcc1 A G 13: 40,409,072 (GRCm39) S118P probably benign Het
Or10g3 A G 14: 52,610,420 (GRCm39) F30S probably benign Het
Or2t45 A G 11: 58,669,213 (GRCm39) T87A probably benign Het
Or8b55 T A 9: 38,727,335 (GRCm39) C179S probably damaging Het
Parp14 A T 16: 35,677,181 (GRCm39) M929K probably benign Het
Pcdh8 T C 14: 80,006,229 (GRCm39) E778G probably benign Het
Pgls T C 8: 72,047,838 (GRCm39) V211A probably benign Het
Pkd2 T A 5: 104,637,151 (GRCm39) M588K probably damaging Het
Pms1 T C 1: 53,231,269 (GRCm39) N860S probably benign Het
Psg19 C T 7: 18,530,888 (GRCm39) V89M probably benign Het
Reln T C 5: 22,147,672 (GRCm39) H2426R probably benign Het
Ripor2 T A 13: 24,885,050 (GRCm39) N428K possibly damaging Het
Slc12a4 C T 8: 106,676,285 (GRCm39) probably null Het
Slc25a3 T C 10: 90,952,960 (GRCm39) I314V probably benign Het
Slc29a1 C A 17: 45,900,688 (GRCm39) V125F probably benign Het
Slc9a5 T A 8: 106,085,981 (GRCm39) C583S probably damaging Het
Slco2b1 G A 7: 99,309,259 (GRCm39) Q691* probably null Het
Smg7 T C 1: 152,719,129 (GRCm39) D874G probably damaging Het
Spef2 T A 15: 9,729,723 (GRCm39) K132* probably null Het
Tap1 A G 17: 34,412,133 (GRCm39) K446R probably benign Het
Tcam1 A T 11: 106,176,443 (GRCm39) T390S possibly damaging Het
Trim42 T C 9: 97,251,852 (GRCm39) R16G possibly damaging Het
Vcp A C 4: 42,984,658 (GRCm39) L411W probably damaging Het
Vma21-ps C A 4: 52,496,973 (GRCm39) G91V probably damaging Het
Vmn1r23 T C 6: 57,903,452 (GRCm39) T109A probably benign Het
Vmn2r67 C T 7: 84,801,450 (GRCm39) C162Y probably benign Het
Vmn2r-ps117 A G 17: 19,044,021 (GRCm39) T366A probably benign Het
Zfp804a A G 2: 82,066,190 (GRCm39) K54E 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
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
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'- TCTTTCATGGACGAGGCACTG -3'
(R):5'- GCAACTGTGTCTGTGTTTCCAAG -3'

Sequencing Primer
(F):5'- GAGGCACTGTCTGTAACTTGTAACC -3'
(R):5'- CATATCGAAGTTATTGAAAGGCCACC -3'
Posted On 2021-03-08