Incidental Mutation 'R7886:Tnik'
ID 609047
Institutional Source Beutler Lab
Gene Symbol Tnik
Ensembl Gene ENSMUSG00000027692
Gene Name TRAF2 and NCK interacting kinase
Synonyms C530008O15Rik, 4831440I19Rik, 1500031A17Rik, C630040K21Rik
MMRRC Submission 045938-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7886 (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 G at 28720288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1304 (I1304V)
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: I1267V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
AA Change: I1267V

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: I1220V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
AA Change: I1220V

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: I1296V

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
AA Change: I1296V

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: I1304V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
AA Change: I1304V

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 damaging
Transcript: ENSMUST00000160518
AA Change: I1275V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
AA Change: I1275V

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: I1212V
SMART Domains Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
AA Change: I1212V

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 probably damaging
Transcript: ENSMUST00000162485
AA Change: I1249V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
AA Change: I1249V

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: I1241V
SMART Domains Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
AA Change: I1241V

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: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (53/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik T G 6: 92,811,437 (GRCm39) I130S unknown Het
Ano5 A G 7: 51,220,141 (GRCm39) H427R probably benign Het
Atad2 A T 15: 57,989,532 (GRCm39) V182E probably damaging Het
B4galnt1 T C 10: 127,002,923 (GRCm39) Y147H probably damaging Het
C1s2 T C 6: 124,605,289 (GRCm39) S349G possibly damaging Het
Ccdc51 G T 9: 108,920,655 (GRCm39) A181S probably damaging Het
Dcc G A 18: 72,087,939 (GRCm39) Q100* probably null Het
Dchs2 A T 3: 83,212,392 (GRCm39) I2064F probably damaging Het
Depdc1a G A 3: 159,221,706 (GRCm39) V217I probably benign Het
Dnajc7 A T 11: 100,492,629 (GRCm39) F31I probably benign Het
Eftud2 C T 11: 102,730,934 (GRCm39) R825H probably damaging Het
Fam184a T C 10: 53,551,256 (GRCm39) E237G probably damaging Het
Fdx2 A T 9: 20,984,623 (GRCm39) probably null Het
Frem1 T C 4: 82,934,643 (GRCm39) D106G possibly damaging Het
Gabrg3 G A 7: 56,374,229 (GRCm39) R446W probably damaging Het
Get1 T A 16: 95,946,768 (GRCm39) L31Q possibly damaging Het
Gm42669 A G 5: 107,656,572 (GRCm39) E362G Het
Hmcn1 A T 1: 150,533,221 (GRCm39) I3022N possibly damaging Het
Ifna2 C A 4: 88,601,506 (GRCm39) V171F probably damaging Het
Igsf10 T C 3: 59,235,748 (GRCm39) N1478D probably benign Het
Kcnc1 C A 7: 46,077,045 (GRCm39) D282E probably damaging Het
Klhdc2 G A 12: 69,351,406 (GRCm39) probably null Het
Macrod2 G A 2: 141,566,565 (GRCm39) G188S probably damaging Het
Mapkbp1 T C 2: 119,843,128 (GRCm39) F186L possibly damaging Het
Mettl21a T C 1: 64,654,343 (GRCm39) E58G probably damaging Het
Muc16 A T 9: 18,497,278 (GRCm39) C6625S probably benign Het
Naip5 A T 13: 100,382,689 (GRCm39) S7T probably benign Het
Nfs1 T A 2: 155,983,981 (GRCm39) D132V unknown Het
Nlgn1 T C 3: 25,490,071 (GRCm39) D552G probably damaging Het
Numa1 C T 7: 101,663,072 (GRCm39) T2066I probably benign Het
Or10k2 T C 8: 84,268,576 (GRCm39) S268P possibly damaging Het
Or2t48 C A 11: 58,419,880 (GRCm39) V311L probably benign Het
Or4k2 A T 14: 50,424,021 (GRCm39) Y219N probably damaging Het
Or7a39 A G 10: 78,715,657 (GRCm39) Y217C possibly damaging Het
Or7g29 A T 9: 19,287,202 (GRCm39) probably null Het
Pde11a C T 2: 76,121,547 (GRCm39) V345I probably benign Het
Pglyrp2 A G 17: 32,637,735 (GRCm39) S98P possibly damaging Het
Pik3c3 C T 18: 30,452,641 (GRCm39) Q643* probably null Het
Pold2 T C 11: 5,822,714 (GRCm39) Y402C probably damaging Het
Pom121 T C 5: 135,410,848 (GRCm39) T770A unknown Het
Pou4f1 A T 14: 104,704,228 (GRCm39) V68E probably damaging Het
Ppfia1 G T 7: 144,073,020 (GRCm39) Q265K probably benign Het
Pygl A G 12: 70,253,130 (GRCm39) probably null Het
Rdh19 A G 10: 127,686,169 (GRCm39) T94A probably benign Het
Scgb1b12 A G 7: 32,033,922 (GRCm39) T61A probably damaging Het
Sirpb1c C T 3: 15,886,366 (GRCm39) A337T probably benign Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Tbc1d23 T C 16: 57,009,746 (GRCm39) E381G possibly damaging Het
Tpmt C A 13: 47,193,638 (GRCm39) G54C probably damaging Het
Usp25 A T 16: 76,910,659 (GRCm39) Q905L probably damaging Het
Vmn1r91 T A 7: 19,835,490 (GRCm39) N136K probably benign Het
Wdr70 C T 15: 8,108,733 (GRCm39) E138K probably benign Het
Zbed3 A G 13: 95,472,633 (GRCm39) D19G possibly damaging Het
Zfp369 A G 13: 65,439,868 (GRCm39) K184R possibly 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
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'- GACACTTGTAAGACTCTCTTTGTCTG -3'
(R):5'- CCAAGTAATGCCACTTCATTGTC -3'

Sequencing Primer
(F):5'- TGTCTGTTTAATCTCAAGTCCTTTG -3'
(R):5'- GTAATGCCACTTCATTGTCATTGATC -3'
Posted On 2019-12-20