Incidental Mutation 'R0549:Tnik'
ID 45010
Institutional Source Beutler Lab
Gene Symbol Tnik
Ensembl Gene ENSMUSG00000027692
Gene Name TRAF2 and NCK interacting kinase
Synonyms C530008O15Rik, 4831440I19Rik, 1500031A17Rik, C630040K21Rik
MMRRC Submission 038741-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0549 (G1)
Quality Score 114
Status Validated
Chromosome 3
Chromosomal Location 28317362-28724734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28625069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 335 (S335P)
Ref Sequence ENSEMBL: ENSMUSP00000124726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159236] [ENSMUST00000159308] [ENSMUST00000159680] [ENSMUST00000160307] [ENSMUST00000160518] [ENSMUST00000160934] [ENSMUST00000162485] [ENSMUST00000162777] [ENSMUST00000161964]
AlphaFold P83510
Predicted Effect possibly damaging
Transcript: ENSMUST00000159236
AA Change: S335P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
AA Change: S335P

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: S335P
SMART Domains Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
AA Change: S335P

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: S335P
SMART Domains Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
AA Change: S335P

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: S335P
SMART Domains Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
AA Change: S335P

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: S335P
SMART Domains Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
AA Change: S335P

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 noncoding transcript
Transcript: ENSMUST00000161423
Predicted Effect unknown
Transcript: ENSMUST00000162485
AA Change: S335P
SMART Domains Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
AA Change: S335P

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 possibly damaging
Transcript: ENSMUST00000162777
AA Change: S335P

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
AA Change: S335P

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: ENSMUST00000161964
AA Change: S335P

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
AA Change: S335P

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 noncoding transcript
Transcript: ENSMUST00000162037
Meta Mutation Damage Score 0.0733 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 96% (48/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,633,216 (GRCm39) F498L probably damaging Het
Adamts6 A T 13: 104,433,763 (GRCm39) D64V possibly damaging Het
Agbl2 T C 2: 90,620,187 (GRCm39) probably benign Het
Angptl3 A G 4: 98,919,692 (GRCm39) S151G probably benign Het
Arhgap39 C T 15: 76,619,086 (GRCm39) D833N probably damaging Het
C4b G T 17: 34,954,389 (GRCm39) L927I probably damaging Het
Ccl3 T C 11: 83,539,162 (GRCm39) T66A probably damaging Het
Cdh20 T C 1: 110,036,674 (GRCm39) L618P probably damaging Het
Cfap65 T C 1: 74,957,603 (GRCm39) T989A probably benign Het
Cfhr4 A T 1: 139,667,226 (GRCm39) D377E probably damaging Het
Cnpy4 T C 5: 138,185,899 (GRCm39) F18S possibly damaging Het
Col6a5 A G 9: 105,781,778 (GRCm39) probably benign Het
Dppa2 G A 16: 48,139,034 (GRCm39) R289H probably benign Het
Evx2 T C 2: 74,489,478 (GRCm39) T96A probably benign Het
Frmd4a A G 2: 4,608,778 (GRCm39) E577G possibly damaging Het
Gcgr G A 11: 120,427,387 (GRCm39) G166S probably benign Het
Gm5316 T C 6: 122,877,150 (GRCm39) noncoding transcript Het
Gria1 G A 11: 57,119,799 (GRCm39) R292Q probably damaging Het
Hars2 T A 18: 36,919,261 (GRCm39) probably null Het
Hkdc1 T A 10: 62,236,019 (GRCm39) T508S probably benign Het
Kif2b A T 11: 91,467,410 (GRCm39) I291N probably damaging Het
Lmbrd1 A T 1: 24,784,001 (GRCm39) T377S probably benign Het
Lrrc28 A G 7: 67,278,090 (GRCm39) probably benign Het
Mmp3 A T 9: 7,455,638 (GRCm39) N463I probably benign Het
Myh6 A G 14: 55,196,065 (GRCm39) F578S probably damaging Het
Ncbp1 T A 4: 46,168,476 (GRCm39) M608K possibly damaging Het
Nf1 T C 11: 79,359,597 (GRCm39) F1412L probably damaging Het
Nlrp5 T A 7: 23,141,227 (GRCm39) W1083R probably damaging Het
Nrsn1 T C 13: 25,446,241 (GRCm39) Y45C probably benign Het
Or3a1b T G 11: 74,012,301 (GRCm39) M62R probably damaging Het
Osbpl7 G T 11: 96,958,368 (GRCm39) R881L probably damaging Het
Papss1 A G 3: 131,324,974 (GRCm39) E456G possibly damaging Het
Pbxip1 T A 3: 89,350,899 (GRCm39) probably benign Het
Pcca A G 14: 122,875,789 (GRCm39) probably benign Het
Pde1a T A 2: 79,695,414 (GRCm39) N511I probably damaging Het
Prpf39 A T 12: 65,103,030 (GRCm39) I435F probably benign Het
Rnf213 C T 11: 119,355,908 (GRCm39) T4117M probably damaging Het
Sel1l2 A T 2: 140,107,802 (GRCm39) M216K probably damaging Het
Sidt2 A G 9: 45,864,417 (GRCm39) probably null Het
Sirt3 A T 7: 140,449,400 (GRCm39) probably null Het
Smpd4 T C 16: 17,457,176 (GRCm39) V378A probably benign Het
Svil T A 18: 5,064,566 (GRCm39) S642T possibly damaging Het
Tcp10a A G 17: 7,593,950 (GRCm39) K92E probably benign Het
Tmem144 T C 3: 79,730,051 (GRCm39) D233G probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Ush2a T C 1: 188,679,150 (GRCm39) L4786P probably damaging Het
Utp11 A T 4: 124,579,872 (GRCm39) probably benign Het
Vmn1r67 A G 7: 10,181,641 (GRCm39) N241D probably damaging Het
Vmn2r11 A T 5: 109,199,963 (GRCm39) C497S 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
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
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'- TCATGCACAGCTTCAGTGTCAGTAG -3'
(R):5'- GGGTCACGAATACAGGCCATACATC -3'

Sequencing Primer
(F):5'- agtcccttgtgttgtgctg -3'
(R):5'- GCCATACATCTTGGGGGAC -3'
Posted On 2013-06-11