Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02448:Tnik'

293598

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnik

Ensembl Gene

ENSMUSG00000027692

Gene Name

TRAF2 and NCK interacting kinase

Synonyms

C530008O15Rik, 4831440I19Rik, 1500031A17Rik, C630040K21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02448

Quality Score

Status

Chromosome

Chromosomal Location

28317362-28724734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28675226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 700 (S700G)

Ref Sequence

ENSEMBL: ENSMUSP00000124387 (fasta)

Gene Model

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

AlphaFold

P83510

Predicted Effect

probably null
Transcript: ENSMUST00000159236
AA Change: S726G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
AA Change: S726G

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 null
Transcript: ENSMUST00000159308
AA Change: S671G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
AA Change: S671G

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 null
Transcript: ENSMUST00000159680
AA Change: S755G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
AA Change: S755G

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

probably null
Transcript: ENSMUST00000160307
AA Change: S755G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
AA Change: S755G

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 null
Transcript: ENSMUST00000160518
AA Change: S726G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
AA Change: S726G

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

probably null
Transcript: ENSMUST00000161964
AA Change: S671G

SMART Domains

Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
AA Change: S671G

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

probably null
Transcript: ENSMUST00000162777
AA Change: S700G

SMART Domains

Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
AA Change: S700G

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 null
Transcript: ENSMUST00000162485
AA Change: S700G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
AA Change: S700G

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

Coding Region Coverage

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl6	T	A	9: 20,786,866 (GRCm39)	I286F	probably damaging	Het
Arhgap5	A	G	12: 52,609,123 (GRCm39)	E1366G	probably damaging	Het
Blzf1	T	A	1: 164,123,350 (GRCm39)	I326F	possibly damaging	Het
Cc2d2a	A	C	5: 43,840,547 (GRCm39)		probably benign	Het
Cdc37	T	C	9: 21,051,147 (GRCm39)	E366G	possibly damaging	Het
Cdh17	T	C	4: 11,784,680 (GRCm39)	S279P	probably benign	Het
Cdh18	T	C	15: 23,173,875 (GRCm39)	S30P	probably benign	Het
Cep192	A	G	18: 68,002,518 (GRCm39)	T2238A	probably benign	Het
Cpped1	C	T	16: 11,623,253 (GRCm39)	E289K	probably benign	Het
Ctsq	A	T	13: 61,184,044 (GRCm39)	Y293N	probably damaging	Het
Epb41l2	A	G	10: 25,369,493 (GRCm39)	N20S	possibly damaging	Het
Gcc2	T	A	10: 58,128,393 (GRCm39)	C1304*	probably null	Het
Hsd3b5	C	T	3: 98,529,447 (GRCm39)	G61E	probably damaging	Het
Igfals	A	T	17: 25,099,161 (GRCm39)	N84I	probably damaging	Het
Irs2	A	T	8: 11,057,862 (GRCm39)	V190D	probably benign	Het
Kank1	T	A	19: 25,388,739 (GRCm39)	L804Q	probably damaging	Het
Kcnj2	G	T	11: 110,963,108 (GRCm39)	V167L	probably benign	Het
Kif20a	T	C	18: 34,761,507 (GRCm39)	V300A	possibly damaging	Het
Kmt2d	T	C	15: 98,741,991 (GRCm39)		probably benign	Het
Moxd1	T	C	10: 24,158,617 (GRCm39)	F424L	probably damaging	Het
Mpeg1	A	C	19: 12,439,973 (GRCm39)	D477A	probably benign	Het
Mtmr10	A	T	7: 63,957,898 (GRCm39)	Y166F	probably damaging	Het
Muc5b	T	G	7: 141,422,226 (GRCm39)	I4454S	possibly damaging	Het
Ntng1	G	A	3: 109,841,875 (GRCm39)		probably benign	Het
Or52r1b	T	C	7: 102,691,604 (GRCm39)	I306T	possibly damaging	Het
Or7e175	T	A	9: 20,048,937 (GRCm39)	L175*	probably null	Het
Pex11a	A	T	7: 79,387,208 (GRCm39)		probably null	Het
Plcg2	A	G	8: 118,333,960 (GRCm39)	D911G	probably benign	Het
Rc3h2	T	C	2: 37,279,817 (GRCm39)	T471A	probably benign	Het
Rif1	T	A	2: 52,006,708 (GRCm39)	L2214Q	probably damaging	Het
Rtel1	T	A	2: 180,977,830 (GRCm39)	S120T	probably benign	Het
Ryr1	A	G	7: 28,804,491 (GRCm39)		probably benign	Het
Sh3yl1	G	T	12: 30,989,666 (GRCm39)	A129S	probably damaging	Het
Slc25a10	A	G	11: 120,387,879 (GRCm39)	T191A	probably benign	Het
Slc8b1	T	C	5: 120,663,856 (GRCm39)	S359P	probably damaging	Het
Srf	T	C	17: 46,866,349 (GRCm39)	T136A	possibly damaging	Het
Stx1a	G	T	5: 135,052,473 (GRCm39)		probably benign	Het
Taf1d	T	A	9: 15,221,690 (GRCm39)	C224*	probably null	Het
Ttn	T	C	2: 76,773,331 (GRCm39)	H2357R	probably benign	Het
Ttn	T	C	2: 76,566,458 (GRCm39)	E28145G	probably damaging	Het
Ush1c	C	A	7: 45,858,561 (GRCm39)	V576F	possibly damaging	Het
Xpc	T	C	6: 91,492,726 (GRCm39)	E19G	probably benign	Het
Zdhhc25	G	A	15: 88,485,045 (GRCm39)	V127M	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
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
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

Posted On

2015-04-16