Mutagenetix > Incidental Mutation

Incidental Mutation 'R3775:Tnik'

273537

Institutional Source

Beutler Lab

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 #

R3775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28317362-28724734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28692568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 820 (Y820H)

Ref Sequence

ENSEMBL: ENSMUSP00000124387 (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: Y838H

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
AA Change: Y838H

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

possibly damaging
Transcript: ENSMUST00000159308
AA Change: Y791H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
AA Change: Y791H

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 benign
Transcript: ENSMUST00000159680
AA Change: Y867H

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
AA Change: Y867H

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 benign
Transcript: ENSMUST00000160307
AA Change: Y875H

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
AA Change: Y875H

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: Y846H

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
AA Change: Y846H

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: Y783H

SMART Domains

Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
AA Change: Y783H

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: ENSMUST00000162225

Predicted Effect

probably damaging
Transcript: ENSMUST00000162485
AA Change: Y820H

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
AA Change: Y820H

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: Y812H

SMART Domains

Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
AA Change: Y812H

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

noncoding transcript
Transcript: ENSMUST00000162037

Meta Mutation Damage Score

0.0640

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (43/43)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,986,387 (GRCm39)	E2557G	possibly damaging	Het
Arid1a	A	G	4: 133,414,075 (GRCm39)	S1248P	unknown	Het
C2cd3	T	C	7: 100,081,205 (GRCm39)	L1327S	probably damaging	Het
Ccnh	T	C	13: 85,354,243 (GRCm39)		probably benign	Het
Dcdc5	C	A	2: 106,202,738 (GRCm39)		noncoding transcript	Het
Eprs1	T	C	1: 185,105,205 (GRCm39)	F160S	probably damaging	Het
F9	A	G	X: 59,064,345 (GRCm39)	I190V	probably benign	Het
Fam185a	C	A	5: 21,660,804 (GRCm39)	A273D	probably damaging	Het
Fhod1	G	A	8: 106,058,270 (GRCm39)		probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Hipk2	T	C	6: 38,720,029 (GRCm39)	D534G	probably damaging	Het
Ints6l	T	C	X: 55,526,731 (GRCm39)	L220S	probably damaging	Het
Kat7	T	C	11: 95,182,357 (GRCm39)	T250A	probably benign	Het
Kif23	G	A	9: 61,832,274 (GRCm39)	S623L	probably benign	Het
Krt32	A	G	11: 99,978,947 (GRCm39)	C36R	probably benign	Het
Megf10	G	A	18: 57,410,177 (GRCm39)	G653S	probably damaging	Het
Mpp3	G	T	11: 101,914,193 (GRCm39)	S134*	probably null	Het
Msh6	G	T	17: 88,293,609 (GRCm39)	R788L	probably damaging	Het
Mxi1	C	A	19: 53,360,160 (GRCm39)	A294E	probably benign	Het
Naip5	T	C	13: 100,359,902 (GRCm39)	I445V	probably benign	Het
Naip5	T	C	13: 100,359,883 (GRCm39)	E451G	probably benign	Het
Nlrp1b	T	C	11: 71,047,126 (GRCm39)		probably benign	Het
Npy1r	T	C	8: 67,157,502 (GRCm39)	F271L	possibly damaging	Het
Nup160	G	T	2: 90,552,420 (GRCm39)	C1132F	probably benign	Het
Or13p3	C	T	4: 118,567,351 (GRCm39)	T249I	probably damaging	Het
Or1o2	T	A	17: 37,543,121 (GRCm39)	I47F	probably damaging	Het
Pcdhga5	A	G	18: 37,828,167 (GRCm39)	E205G	possibly damaging	Het
Pdgfc	A	G	3: 81,048,858 (GRCm39)	T89A	probably damaging	Het
Pecr	A	G	1: 72,298,530 (GRCm39)	F297L	probably benign	Het
Pgr15l	G	T	X: 96,120,747 (GRCm39)	R181M	probably damaging	Het
Pomgnt1	G	A	4: 116,011,325 (GRCm39)	R230H	probably damaging	Het
Ppm1d	T	C	11: 85,227,993 (GRCm39)	I303T	probably damaging	Het
Ptprc	T	G	1: 137,992,511 (GRCm39)	Q1205H	probably damaging	Het
Rnf112	A	T	11: 61,341,011 (GRCm39)		probably benign	Het
Slc25a13	T	A	6: 6,109,288 (GRCm39)	Q358L	probably damaging	Het
Slc25a19	A	G	11: 115,506,285 (GRCm39)	Y303H	probably damaging	Het
Sympk	T	C	7: 18,769,880 (GRCm39)	F186L	probably damaging	Het
Tek	A	G	4: 94,692,549 (GRCm39)	D219G	probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Vmn2r29	C	G	7: 7,243,011 (GRCm39)	D500H	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
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

Predicted Primers

PCR Primer
(F):5'- ATACAGAATATTCTCGAAGTCGCTG -3'
(R):5'- ATCCTCCTGTTTAGCCAGAACAC -3'

Sequencing Primer
(F):5'- TCTCGAAGTCGCTGCAATAATC -3'
(R):5'- GCATAAGCATCCTATGTAAAAGTTTG -3'

Posted On

2015-03-25