Incidental Mutation 'R9290:Tnik'
ID 704197
Institutional Source Beutler Lab
Gene Symbol Tnik
Ensembl Gene ENSMUSG00000027692
Gene Name TRAF2 and NCK interacting kinase
Synonyms C530008O15Rik, 4831440I19Rik, 1500031A17Rik, C630040K21Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9290 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 28317362-28724734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28675124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 721 (S721P)
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 benign
Transcript: ENSMUST00000159236
AA Change: S692P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
AA Change: S692P

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: S637P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
AA Change: S637P

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: S721P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
AA Change: S721P

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: S721P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
AA Change: S721P

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: S692P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
AA Change: S692P

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: S637P
SMART Domains Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
AA Change: S637P

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 benign
Transcript: ENSMUST00000162485
AA Change: S666P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
AA Change: S666P

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: S666P
SMART Domains Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
AA Change: S666P

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (67/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 A G 1: 156,457,538 (GRCm39) K268R probably damaging Het
Acvr1 T C 2: 58,338,330 (GRCm39) D464G probably damaging Het
Adra1d G T 2: 131,403,898 (GRCm39) T64K probably benign Het
Cct3 T C 3: 88,216,536 (GRCm39) V164A probably benign Het
Cdhr2 T C 13: 54,882,009 (GRCm39) V1153A possibly damaging Het
Cdkn2c A C 4: 109,518,512 (GRCm39) Y147* probably null Het
Ces1g A T 8: 94,029,545 (GRCm39) H562Q probably benign Het
Cfap221 A G 1: 119,853,381 (GRCm39) L771P probably benign Het
Chsy3 A G 18: 59,542,928 (GRCm39) M689V probably benign Het
Ciita T A 16: 10,326,513 (GRCm39) S235T probably damaging Het
Cracdl T A 1: 37,663,634 (GRCm39) R755W probably damaging Het
Dcdc2a A G 13: 25,386,313 (GRCm39) K396E probably benign Het
Dgki C T 6: 37,276,780 (GRCm39) C35Y unknown Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
Dnai7 T C 6: 145,148,688 (GRCm39) E57G unknown Het
Eif3a A G 19: 60,765,221 (GRCm39) V322A probably damaging Het
Foxp2 A T 6: 15,197,120 (GRCm39) Q54L possibly damaging Het
Garin2 T A 12: 78,759,028 (GRCm39) V116E possibly damaging Het
Gm19410 T A 8: 36,269,386 (GRCm39) C1074S probably damaging Het
Gtf3c3 T G 1: 54,477,997 (GRCm39) E26A possibly damaging Het
Hps5 T C 7: 46,424,331 (GRCm39) E514G probably damaging Het
Ide A T 19: 37,302,647 (GRCm39) D154E Het
Insm1 T C 2: 146,065,273 (GRCm39) V363A probably benign Het
Iqgap2 A T 13: 95,886,523 (GRCm39) M120K probably damaging Het
Kcnh5 T A 12: 75,023,488 (GRCm39) I527F probably benign Het
Lrtm2 A G 6: 119,297,792 (GRCm39) L83P probably damaging Het
Map1a A G 2: 121,131,014 (GRCm39) E372G probably damaging Het
Mycbp2 A T 14: 103,425,960 (GRCm39) H2421Q probably damaging Het
Myh15 A G 16: 48,997,375 (GRCm39) E1731G probably damaging Het
Myt1 A T 2: 181,437,667 (GRCm39) H168L probably benign Het
Nxph4 A T 10: 127,362,546 (GRCm39) V115E probably damaging Het
Ofcc1 A T 13: 40,433,802 (GRCm39) I101N possibly damaging Het
Oog2 T C 4: 143,923,015 (GRCm39) F427L probably benign Het
Or4c115 A G 2: 88,928,076 (GRCm39) L65P probably damaging Het
Or4f14b A T 2: 111,774,967 (GRCm39) I278N possibly damaging Het
Or5w11 A G 2: 87,459,209 (GRCm39) N18S probably benign Het
Or8b48 T C 9: 38,493,334 (GRCm39) S254P probably damaging Het
Or8g27 A G 9: 39,129,531 (GRCm39) R293G probably damaging Het
Otop1 T G 5: 38,455,302 (GRCm39) I232S probably benign Het
Pak6 G A 2: 118,523,883 (GRCm39) R346Q probably damaging Het
Pbk A T 14: 66,054,713 (GRCm39) M282L probably benign Het
Pmpcb T C 5: 21,944,009 (GRCm39) probably null Het
Pou5f2 T A 13: 78,173,585 (GRCm39) W176R probably damaging Het
Prkra G T 2: 76,478,147 (GRCm39) S18R probably benign Het
Prune2 G T 19: 17,145,691 (GRCm39) A2764S probably benign Het
Ptpdc1 A T 13: 48,740,221 (GRCm39) D403E probably benign Het
Pxylp1 T C 9: 96,722,089 (GRCm39) E54G probably damaging Het
Rap1gap G A 4: 137,446,222 (GRCm39) A325T probably damaging Het
Raver2 G A 4: 100,977,387 (GRCm39) probably benign Het
Rbpj T C 5: 53,810,745 (GRCm39) V455A probably damaging Het
Rptor A T 11: 119,702,823 (GRCm39) I397F probably benign Het
Sacs G A 14: 61,421,499 (GRCm39) M148I probably benign Het
Sec16b A G 1: 157,373,816 (GRCm39) Q496R probably damaging Het
Sned1 C A 1: 93,199,385 (GRCm39) C488* probably null Het
Snupn G T 9: 56,882,547 (GRCm39) V187F possibly damaging Het
Sorcs2 T C 5: 36,183,225 (GRCm39) D1016G probably damaging Het
Spta1 T C 1: 174,045,204 (GRCm39) M1517T possibly damaging Het
Them4 G T 3: 94,231,630 (GRCm39) G156C probably damaging Het
Trpm8 T C 1: 88,246,767 (GRCm39) S26P probably damaging Het
Ube2e3 A G 2: 78,750,324 (GRCm39) I183M probably damaging Het
Uhrf2 A G 19: 30,055,416 (GRCm39) Y389C probably damaging Het
Utp4 T A 8: 107,642,828 (GRCm39) D495E possibly damaging Het
Vill C A 9: 118,890,562 (GRCm39) N158K probably benign Het
Vmn1r219 G A 13: 23,347,399 (GRCm39) G196E probably damaging Het
Vmn2r101 C T 17: 19,811,395 (GRCm39) S493L probably benign Het
Vmn2r61 A G 7: 41,915,385 (GRCm39) T111A probably benign Het
Zbtb40 G T 4: 136,745,529 (GRCm39) A168E probably benign Het
Zscan18 A T 7: 12,508,054 (GRCm39) I482N 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
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
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'- TCTATAAAATGAGACCTGCTTTAAGC -3'
(R):5'- GTAACCGTCTTTCTGCTCCG -3'

Sequencing Primer
(F):5'- GTGCAACAGTGATTGGATCCATCTC -3'
(R):5'- GGCTTTCCTCCCGGGTGTG -3'
Posted On 2022-03-25