Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Tnik'

505429

Institutional Source

Beutler Lab

Gene Symbol

Tnik

Ensembl Gene

ENSMUSG00000027692

Gene Name

TRAF2 and NCK interacting kinase

Synonyms

C630040K21Rik, 1500031A17Rik, 4831440I19Rik, C530008O15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28263214-28675858 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28650179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 996 (L996I)

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 damaging
Transcript: ENSMUST00000159236
AA Change: L1014I

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

SMART Domains

Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
AA Change: L1014I

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: L967I

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

SMART Domains

Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
AA Change: L967I

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: L1043I

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

SMART Domains

Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
AA Change: L1043I

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: L1051I

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

SMART Domains

Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
AA Change: L1051I

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: L1022I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
AA Change: L1022I

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: L959I

SMART Domains

Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
AA Change: L959I

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: L996I

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

SMART Domains

Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
AA Change: L996I

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: L988I

SMART Domains

Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
AA Change: L988I

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

Meta Mutation Damage Score

0.1794

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,956,999	V1782A	probably benign	Het
6430550D23Rik	T	C	2: 156,003,230	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,197,533	M499K	probably benign	Het
Adgrv1	G	A	13: 81,106,931	T211I	probably damaging	Het
Adss	C	T	1: 177,776,829	E153K	probably benign	Het
Ago4	C	A	4: 126,511,487	G431V	possibly damaging	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,726,561	I769F	probably damaging	Het
Atp9a	T	C	2: 168,689,352		probably null	Het
Brap	C	A	5: 121,665,309	D173E	probably benign	Het
Brca2	G	T	5: 150,566,978	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,996,251	P555Q	probably benign	Het
Ccser2	A	G	14: 36,940,718	S170P	probably benign	Het
Celsr2	T	C	3: 108,393,128	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,046,385	R174M	probably damaging	Het
Cfap57	T	G	4: 118,579,410	I930L	probably damaging	Het
Cx3cr1	C	T	9: 120,051,694	R214H	probably damaging	Het
Cyp4f14	T	A	17: 32,906,317	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,615,276	F592L	probably damaging	Het
Ddb1	A	G	19: 10,625,923	E865G	probably damaging	Het
Ddx50	A	T	10: 62,621,566		probably null	Het
Dpp6	A	G	5: 27,049,628	T14A	probably damaging	Het
Echs1	C	A	7: 140,113,069	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,530,307	D587V	probably damaging	Het
Ect2l	A	T	10: 18,140,397	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,316,912	G342S	probably benign	Het
Fbxo33	C	A	12: 59,206,079	K211N	probably benign	Het
Fchsd2	A	G	7: 101,259,776		probably null	Het
Fen1	A	G	19: 10,200,687	V131A	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092	E587G	probably damaging	Het
Foxd3	A	G	4: 99,657,240	T206A	possibly damaging	Het
Fut1	A	G	7: 45,619,306	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,933,548	F379L	probably damaging	Het
Gcnt2	A	C	13: 40,861,241	E296A	probably damaging	Het
Gm7145	T	A	1: 117,986,140	C251S	probably damaging	Het
Gpam	G	A	19: 55,070,985	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,327,566	L87M	possibly damaging	Het
Itgae	A	G	11: 73,145,601	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,182,226	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,645,523	Y511*	probably null	Het
Kdm3b	T	A	18: 34,793,005	I66N	probably damaging	Het
Klk1b27	A	T	7: 44,054,550	H39L	probably benign	Het
Kmo	C	T	1: 175,659,695	T404I	possibly damaging	Het
Krt222	C	T	11: 99,235,058		probably null	Het
Magi3	G	C	3: 104,015,697	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,389,244	G81C	probably damaging	Het
Med15	G	A	16: 17,652,745	Q583*	probably null	Het
Mroh2a	T	C	1: 88,256,754	V1453A	probably benign	Het
Myh13	A	G	11: 67,362,501	M1488V	probably benign	Het
Naip2	A	T	13: 100,152,137	F1193L	probably damaging	Het
Nop58	T	A	1: 59,702,855	M181K	probably damaging	Het
Npepps	A	T	11: 97,213,790	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,770,537	F301S	probably damaging	Het
Nynrin	G	A	14: 55,868,028	V832I	probably damaging	Het
Olfr1046	T	A	2: 86,217,222	T163S	possibly damaging	Het
Olfr1508	T	A	14: 52,463,895	Y38F	probably damaging	Het
Olfr320	A	T	11: 58,684,004	T44S	possibly damaging	Het
Olfr342	T	A	2: 36,528,341	C310S	probably benign	Het
Olfr61	C	A	7: 140,638,433	S244Y	probably damaging	Het
Phrf1	T	A	7: 141,237,673	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,230,558		probably null	Het
Polr2a	G	A	11: 69,744,226	T569M	probably damaging	Het
Prr29	A	G	11: 106,376,632		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908		probably benign	Homo
Sc5d	T	C	9: 42,255,421	E274G	probably benign	Het
Serpina1d	A	T	12: 103,764,828		probably null	Het
Serpinb11	T	A	1: 107,372,242	I106N	probably damaging	Het
Setd2	G	A	9: 110,548,665	R516K	probably damaging	Het
Sirt2	G	T	7: 28,787,797	C291F	probably damaging	Het
Stac3	T	C	10: 127,508,175	V314A	probably damaging	Het
Stat6	C	T	10: 127,657,712		probably null	Het
Strn3	A	G	12: 51,610,107	V712A	probably damaging	Het
Tmc5	G	T	7: 118,634,214	G84C	possibly damaging	Het
Trim30d	G	T	7: 104,487,610	T129K	probably damaging	Het
Triml1	G	T	8: 43,138,756	Y188*	probably null	Het
Trpc7	A	G	13: 56,773,892	Y760H	probably damaging	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,239,272	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,672,902	C61*	probably null	Het
Vmn2r18	A	T	5: 151,584,651	V336E	probably damaging	Het
Vwa8	T	C	14: 79,086,662	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,783,161	V24A	probably benign	Het
Zfp354c	A	G	11: 50,814,971	Y426H	probably benign	Het

Other mutations in Tnik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Tnik	APN	3	28654218	missense	probably damaging	1.00
IGL00726:Tnik	APN	3	28532898	missense	probably damaging	1.00
IGL01022:Tnik	APN	3	28625228	splice site	probably null
IGL01145:Tnik	APN	3	28604167	intron	probably benign
IGL01664:Tnik	APN	3	28638479	missense	probably damaging	1.00
IGL01843:Tnik	APN	3	28570858	splice site	probably null
IGL02378:Tnik	APN	3	28638459	nonsense	probably null
IGL02448:Tnik	APN	3	28621077	missense	probably null	0.01
IGL02756:Tnik	APN	3	28542030	missense	probably damaging	1.00
IGL03332:Tnik	APN	3	28666155	missense	probably damaging	1.00
delightful	UTSW	3	28604185	missense	probably damaging	1.00
Hottie	UTSW	3	28263643	start codon destroyed	probably null	0.93
Knockout	UTSW	3	28661778	missense	possibly damaging	0.91
Looker	UTSW	3	28661704	nonsense	probably null
Lovely	UTSW	3	28611970	critical splice donor site	probably null
Usher	UTSW	3	28564097	missense	possibly damaging	0.61
R0135:Tnik	UTSW	3	28607245	missense	possibly damaging	0.67
R0418:Tnik	UTSW	3	28570880	nonsense	probably null
R0540:Tnik	UTSW	3	28650159	missense	probably damaging	1.00
R0549:Tnik	UTSW	3	28570920	missense	possibly damaging	0.87
R0556:Tnik	UTSW	3	28625218	missense	possibly damaging	0.95
R0586:Tnik	UTSW	3	28577361	splice site	probably benign
R0607:Tnik	UTSW	3	28650159	missense	probably damaging	1.00
R0842:Tnik	UTSW	3	28594086	missense	possibly damaging	0.72
R1068:Tnik	UTSW	3	28532975	missense	probably damaging	1.00
R1171:Tnik	UTSW	3	28532940	missense	probably damaging	1.00
R1597:Tnik	UTSW	3	28604269	missense	probably damaging	1.00
R1638:Tnik	UTSW	3	28665740	missense	probably damaging	0.99
R1652:Tnik	UTSW	3	28604293	missense	probably benign	0.22
R1996:Tnik	UTSW	3	28665680	missense	probably damaging	1.00
R2333:Tnik	UTSW	3	28532996	missense	probably damaging	1.00
R2426:Tnik	UTSW	3	28646681	missense	probably damaging	1.00
R2509:Tnik	UTSW	3	28667915	missense	probably damaging	1.00
R3774:Tnik	UTSW	3	28638419	missense	probably damaging	0.98
R3775:Tnik	UTSW	3	28638419	missense	probably damaging	0.98
R4007:Tnik	UTSW	3	28604281	missense	probably damaging	1.00
R4119:Tnik	UTSW	3	28666175	missense	probably damaging	1.00
R4209:Tnik	UTSW	3	28359065	splice site	probably benign
R4441:Tnik	UTSW	3	28564097	missense	possibly damaging	0.61
R4611:Tnik	UTSW	3	28542100	critical splice donor site	probably null
R4714:Tnik	UTSW	3	28594077	missense	possibly damaging	0.53
R4772:Tnik	UTSW	3	28607210	missense	probably benign	0.09
R4829:Tnik	UTSW	3	28539541	intron	probably benign
R4839:Tnik	UTSW	3	28596075	missense	possibly damaging	0.86
R4898:Tnik	UTSW	3	28650086	missense	probably damaging	1.00
R5029:Tnik	UTSW	3	28665844	splice site	probably null
R5278:Tnik	UTSW	3	28650060	missense	probably damaging	1.00
R5307:Tnik	UTSW	3	28541972	missense	probably damaging	1.00
R5330:Tnik	UTSW	3	28542018	missense	probably damaging	1.00
R5375:Tnik	UTSW	3	28594092	missense	probably benign	0.02
R5459:Tnik	UTSW	3	28661741	missense	probably damaging	1.00
R5708:Tnik	UTSW	3	28611971	critical splice donor site	probably null
R5749:Tnik	UTSW	3	28594092	missense	probably benign	0.02
R5751:Tnik	UTSW	3	28594092	missense	probably benign	0.02
R5780:Tnik	UTSW	3	28594092	missense	probably benign	0.02
R5837:Tnik	UTSW	3	28668053	unclassified	probably benign
R5969:Tnik	UTSW	3	28620948	missense	probably damaging	1.00
R6273:Tnik	UTSW	3	28577500	missense	possibly damaging	0.94
R6457:Tnik	UTSW	3	28539448	missense	probably damaging	1.00
R6464:Tnik	UTSW	3	28611970	critical splice donor site	probably null
R6473:Tnik	UTSW	3	28263643	start codon destroyed	probably null	0.93
R6737:Tnik	UTSW	3	28596086	missense	possibly damaging	0.72
R7049:Tnik	UTSW	3	28661704	nonsense	probably null
R7237:Tnik	UTSW	3	28638419	missense	probably damaging	0.98
R7267:Tnik	UTSW	3	28646627	missense	probably damaging	0.99
R7445:Tnik	UTSW	3	28663909	splice site	probably null
R7499:Tnik	UTSW	3	28630594	missense	possibly damaging	0.47
R7629:Tnik	UTSW	3	28661728	missense	probably damaging	0.96
R7654:Tnik	UTSW	3	28604185	missense	probably damaging	1.00
R7886:Tnik	UTSW	3	28666139	missense	probably damaging	1.00
R8096:Tnik	UTSW	3	28661778	missense	possibly damaging	0.91
R8210:Tnik	UTSW	3	28604333	missense	possibly damaging	0.95
R8233:Tnik	UTSW	3	28554937	missense	unknown
R8386:Tnik	UTSW	3	28263674	missense	unknown
R8399:Tnik	UTSW	3	28494010	missense	unknown
R8490:Tnik	UTSW	3	28596172	missense	probably damaging	0.97
R8539:Tnik	UTSW	3	28542003	missense	probably damaging	1.00
R8751:Tnik	UTSW	3	28611908	missense	probably damaging	0.98
R8804:Tnik	UTSW	3	28594053	missense	unknown
R8966:Tnik	UTSW	3	28532895	missense	unknown
R8998:Tnik	UTSW	3	28665771	missense	probably damaging	1.00
R8999:Tnik	UTSW	3	28665771	missense	probably damaging	1.00
R9016:Tnik	UTSW	3	28638395	missense	probably damaging	1.00
R9154:Tnik	UTSW	3	28650086	missense	probably damaging	0.99
R9284:Tnik	UTSW	3	28539421	missense	unknown
R9290:Tnik	UTSW	3	28620975	missense	probably benign	0.00
R9411:Tnik	UTSW	3	28630605	missense	probably damaging	1.00
R9484:Tnik	UTSW	3	28594944	missense	unknown
X0022:Tnik	UTSW	3	28667951	missense	probably damaging	1.00
Z1176:Tnik	UTSW	3	28604324	missense	probably damaging	1.00
Z1176:Tnik	UTSW	3	28607328	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGTATGGACACACCCTAAGC -3'
(R):5'- CAATCCTTAGGCAGTCCCAC -3'

Sequencing Primer
(F):5'- ATTGGCAGCCTGCTACTGAC -3'
(R):5'- AGGCAGTCCCACATCAGTTTC -3'

Posted On

2018-02-28