Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03332:Tnik'

416893

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 #

IGL03332

Quality Score

Status

Chromosome

Chromosomal Location

28317362-28724734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28720304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1254 (T1254I)

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 damaging
Transcript: ENSMUST00000159236
AA Change: T1272I

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

SMART Domains

Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
AA Change: T1272I

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: T1225I

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

SMART Domains

Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
AA Change: T1225I

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: T1301I

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

SMART Domains

Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
AA Change: T1301I

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: T1309I

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

SMART Domains

Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
AA Change: T1309I

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: T1280I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
AA Change: T1280I

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: T1217I

SMART Domains

Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
AA Change: T1217I

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: ENSMUST00000162777
AA Change: T1246I

SMART Domains

Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
AA Change: T1246I

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 damaging
Transcript: ENSMUST00000162485
AA Change: T1254I

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

SMART Domains

Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
AA Change: T1254I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192205

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff1	C	A	5: 103,988,971 (GRCm39)	S846*	probably null	Het
Cnga2	A	G	X: 71,049,800 (GRCm39)	Y155C	probably damaging	Het
Cngb1	A	G	8: 96,025,474 (GRCm39)		probably benign	Het
Ece1	T	C	4: 137,673,666 (GRCm39)	Y405H	probably damaging	Het
Entpd5	T	C	12: 84,429,002 (GRCm39)		probably null	Het
Itpr2	T	C	6: 146,045,647 (GRCm39)	E2573G	probably damaging	Het
Katnip	T	A	7: 125,419,277 (GRCm39)	Y481*	probably null	Het
Mia2	T	A	12: 59,155,184 (GRCm39)	I300N	probably damaging	Het
Mtcl1	G	A	17: 66,645,014 (GRCm39)	P1478S	probably damaging	Het
Myo9b	A	G	8: 71,801,418 (GRCm39)	E1192G	possibly damaging	Het
Nol6	C	A	4: 41,120,735 (GRCm39)	D405Y	probably damaging	Het
Rpl4	T	C	9: 64,083,370 (GRCm39)		probably benign	Het
Rreb1	G	T	13: 38,114,892 (GRCm39)	E750D	probably benign	Het
Slc1a2	A	G	2: 102,578,879 (GRCm39)	M265V	possibly damaging	Het
Unc80	G	A	1: 66,542,790 (GRCm39)	G348D	probably damaging	Het
Wdr19	A	G	5: 65,384,486 (GRCm39)	T527A	possibly damaging	Het
Zbtb21	T	C	16: 97,753,533 (GRCm39)	E250G	possibly damaging	Het
Zbtb8b	G	A	4: 129,322,361 (GRCm39)	P367S	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
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

2016-08-02