Mutagenetix > Incidental Mutation

Incidental Mutation 'R5459:Tnik'

432915

Institutional Source

Beutler Lab

Gene Symbol

Tnik

Ensembl Gene

ENSMUSG00000027692

Gene Name

TRAF2 and NCK interacting kinase

Synonyms

C530008O15Rik, 4831440I19Rik, 1500031A17Rik, C630040K21Rik

MMRRC Submission

043022-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5459 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28317362-28724734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28715890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 1168 (I1168K)

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: I1131K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
AA Change: I1131K

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000159308
AA Change: I1084K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
AA Change: I1084K

Domain	Start	End	E-Value	Type
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: I1160K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
AA Change: I1160K

Domain	Start	End	E-Value	Type
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: I1168K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
AA Change: I1168K

Domain	Start	End	E-Value	Type
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: I1139K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
AA Change: I1139K

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	25	212	2.2e-37	PFAM
Pfam:Pkinase	25	219	5.9e-52	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000161964
AA Change: I1076K

SMART Domains

Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
AA Change: I1076K

Domain	Start	End	E-Value	Type
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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162485
AA Change: I1113K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
AA Change: I1113K

Domain	Start	End	E-Value	Type
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: I1105K

SMART Domains

Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
AA Change: I1105K

Domain	Start	End	E-Value	Type
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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	A	G	17: 35,879,079 (GRCm39)	E139G	possibly damaging	Het
Abcc6	T	C	7: 45,631,607 (GRCm39)	N1223S	probably benign	Het
Adamts3	A	T	5: 89,839,332 (GRCm39)		probably null	Het
Aloxe3	T	A	11: 69,023,654 (GRCm39)	F259Y	possibly damaging	Het
Armc9	G	A	1: 86,135,694 (GRCm39)	R550Q	probably damaging	Het
Ctnnd2	A	G	15: 30,887,334 (GRCm39)	D787G	probably damaging	Het
Dnah7b	A	G	1: 46,148,472 (GRCm39)	I283V	probably null	Het
Ebf2	A	G	14: 67,472,650 (GRCm39)	M23V	probably benign	Het
Fbxw11	T	C	11: 32,689,191 (GRCm39)	V438A	possibly damaging	Het
Fcrla	G	A	1: 170,745,738 (GRCm39)	T348M	possibly damaging	Het
Gpr179	A	T	11: 97,227,483 (GRCm39)	H1557Q	probably benign	Het
Gpr87	A	G	3: 59,087,148 (GRCm39)	V119A	possibly damaging	Het
Grep1	C	T	17: 23,930,817 (GRCm39)		probably benign	Het
Hfm1	A	G	5: 107,052,629 (GRCm39)	S285P	probably damaging	Het
Hs3st5	T	C	10: 36,704,742 (GRCm39)	V15A	possibly damaging	Het
Hyal5	C	T	6: 24,891,250 (GRCm39)	H355Y	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Map4k3	T	A	17: 80,917,216 (GRCm39)	N587Y	probably damaging	Het
Mcm3ap	T	A	10: 76,332,316 (GRCm39)	L1211*	probably null	Het
Mcmdc2	A	G	1: 10,007,309 (GRCm39)	I620V	probably benign	Het
Mical2	C	T	7: 111,981,444 (GRCm39)	H539Y	probably benign	Het
Myo9a	T	C	9: 59,791,803 (GRCm39)	L1802P	probably damaging	Het
Neto2	T	A	8: 86,397,112 (GRCm39)	I47F	probably benign	Het
Oog3	G	A	4: 143,885,815 (GRCm39)	T261I	probably benign	Het
Or5b95	A	G	19: 12,657,799 (GRCm39)	E109G	probably damaging	Het
Pdilt	A	G	7: 119,086,158 (GRCm39)	L519P	probably benign	Het
Pnpla6	A	T	8: 3,585,829 (GRCm39)	M844L	probably benign	Het
Polk	C	T	13: 96,631,984 (GRCm39)	G250R	probably damaging	Het
Rasal2	A	G	1: 156,985,231 (GRCm39)	S839P	probably damaging	Het
Siae	T	C	9: 37,528,119 (GRCm39)	Y31H	probably damaging	Het
Slc27a2	T	C	2: 126,422,912 (GRCm39)	V379A	probably damaging	Het
Snx9	C	T	17: 5,970,913 (GRCm39)	T418M	probably damaging	Het
Spata31e2	A	C	1: 26,724,272 (GRCm39)	S303A	probably damaging	Het
Srp72	A	G	5: 77,132,185 (GRCm39)	T258A	probably benign	Het
Tango6	T	A	8: 107,576,921 (GRCm39)	D1058E	probably damaging	Het
Tecpr1	T	A	5: 144,144,234 (GRCm39)	Y656F	probably damaging	Het
Togaram1	A	G	12: 65,014,510 (GRCm39)	E587G	probably damaging	Het
Tyw1	A	C	5: 130,303,547 (GRCm39)	D305A	probably damaging	Het
Vmn1r19	T	A	6: 57,381,475 (GRCm39)	Y9*	probably null	Het
Zkscan3	A	T	13: 21,578,982 (GRCm39)	V142E	probably damaging	Het

Other mutations in Tnik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TTCCAAGAACGATGCCCTC -3'
(R):5'- CCCAGTGGAAGAGGACAATC -3'

Sequencing Primer
(F):5'- TGCCCTCAACTATGAATACCTATAG -3'
(R):5'- ATCAGATTTTAATGTGATGAGCTTGG -3'

Posted On

2016-10-06