Mutagenetix > Incidental Mutation

Incidental Mutation 'R4441:Tnik'

329750

Institutional Source

Beutler Lab

Gene Symbol

Tnik

Ensembl Gene

ENSMUSG00000027692

Gene Name

TRAF2 and NCK interacting kinase

Synonyms

C530008O15Rik, 4831440I19Rik, 1500031A17Rik, C630040K21Rik

MMRRC Submission

041706-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28317362-28724734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28618246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 266 (I266V)

Ref Sequence

ENSEMBL: ENSMUSP00000124726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159236] [ENSMUST00000159308] [ENSMUST00000159680] [ENSMUST00000160307] [ENSMUST00000160518] [ENSMUST00000160934] [ENSMUST00000162777] [ENSMUST00000161964] [ENSMUST00000162485]

AlphaFold

P83510

Predicted Effect

probably benign
Transcript: ENSMUST00000159236
AA Change: I266V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
AA Change: I266V

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

unknown
Transcript: ENSMUST00000159308
AA Change: I266V

SMART Domains

Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
AA Change: I266V

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

unknown
Transcript: ENSMUST00000159680
AA Change: I266V

SMART Domains

Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
AA Change: I266V

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

unknown
Transcript: ENSMUST00000160307
AA Change: I266V

SMART Domains

Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
AA Change: I266V

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

unknown
Transcript: ENSMUST00000160518
AA Change: I266V

SMART Domains

Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
AA Change: I266V

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

noncoding transcript
Transcript: ENSMUST00000161423

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162777
AA Change: I266V

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
AA Change: I266V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161964
AA Change: I266V

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
AA Change: I266V

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

unknown
Transcript: ENSMUST00000162485
AA Change: I266V

SMART Domains

Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
AA Change: I266V

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

noncoding transcript
Transcript: ENSMUST00000162037

Meta Mutation Damage Score

0.0741

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (53/55)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,127,024 (GRCm39)	R1238S	probably benign	Het
Ankmy1	A	T	1: 92,816,383 (GRCm39)	Y244N	possibly damaging	Het
Asxl3	C	T	18: 22,657,290 (GRCm39)	P1767S	probably damaging	Het
C1qtnf7	A	T	5: 43,766,612 (GRCm39)	K70N	possibly damaging	Het
Cibar1	A	G	4: 12,157,733 (GRCm39)	M261T	probably damaging	Het
Fam78b	C	A	1: 166,906,491 (GRCm39)	Q217K	probably damaging	Het
Garem1	T	C	18: 21,301,807 (GRCm39)	T127A	possibly damaging	Het
Gls	A	T	1: 52,235,322 (GRCm39)		probably null	Het
Gm12790	A	C	4: 101,825,337 (GRCm39)	S26A	probably damaging	Het
Gm136	T	C	4: 34,755,911 (GRCm39)	D34G	probably benign	Het
Gmds	A	G	13: 32,124,461 (GRCm39)		probably null	Het
Hdac9	G	T	12: 34,439,375 (GRCm39)	H401N	probably damaging	Het
Hmcn1	T	C	1: 150,533,210 (GRCm39)	I3026V	probably null	Het
Igkv6-20	A	T	6: 70,313,101 (GRCm39)	M24K	probably damaging	Het
Ilf2	T	C	3: 90,394,769 (GRCm39)	L339P	probably benign	Het
Insr	T	A	8: 3,244,902 (GRCm39)	K501N	probably benign	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Mcm5	T	C	8: 75,839,172 (GRCm39)	S142P	probably benign	Het
Mcpt9	A	G	14: 56,265,009 (GRCm39)	V164A	probably damaging	Het
Ncapd3	T	A	9: 26,962,941 (GRCm39)	D415E	possibly damaging	Het
Nfia	T	C	4: 97,661,150 (GRCm39)		probably null	Het
Nipbl	G	C	15: 8,396,142 (GRCm39)	Q144E	probably damaging	Het
Or51g1	A	T	7: 102,633,516 (GRCm39)	V285E	possibly damaging	Het
Or51q1c	T	G	7: 103,653,279 (GRCm39)	F266V	probably damaging	Het
Or6z5	T	C	7: 6,477,924 (GRCm39)	S272P	probably benign	Het
Pcdhgb8	A	G	18: 37,896,114 (GRCm39)	I395V	possibly damaging	Het
Plcz1	T	A	6: 139,936,413 (GRCm39)	L605F	probably benign	Het
Prph	G	A	15: 98,955,005 (GRCm39)	S325N	probably damaging	Het
Ptpn23	A	G	9: 110,221,793 (GRCm39)	M131T	probably benign	Het
Rab3ip	T	G	10: 116,751,837 (GRCm39)	D278A	probably benign	Het
Rasgrf2	T	C	13: 92,131,797 (GRCm39)	D620G	possibly damaging	Het
Rbm5	A	G	9: 107,626,887 (GRCm39)		probably benign	Het
Rc3h2	A	G	2: 37,304,526 (GRCm39)		probably null	Het
Saxo5	C	T	8: 3,526,105 (GRCm39)	S86L	probably damaging	Het
Tbxa2r	T	C	10: 81,168,925 (GRCm39)	S205P	probably damaging	Het
Tenm4	A	G	7: 96,545,022 (GRCm39)	N2375S	probably benign	Het
Tespa1	C	T	10: 130,197,826 (GRCm39)	R283C	probably damaging	Het
Tle2	A	G	10: 81,417,516 (GRCm39)	E227G	possibly damaging	Het
Tnn	T	G	1: 159,943,650 (GRCm39)	E1054D	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm1	A	G	7: 63,851,666 (GRCm39)	D12G	probably damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Wdr7	T	A	18: 63,888,281 (GRCm39)	Y585N	probably damaging	Het
Zgrf1	T	A	3: 127,379,786 (GRCm39)	N223K	possibly 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
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'- ACACCCTCGAACTTCACTGTG -3'
(R):5'- TTGCTCTGAAATACAAACAGGC -3'

Sequencing Primer
(F):5'- CGAACTTCACTGTGCTGATAGGC -3'
(R):5'- GGCAACTAACCTTTTTCTCCTCG -3'

Posted On

2015-07-21