Mutagenetix > Incidental Mutations

Incidental Mutation 'R1687:Tnni3k'

189408

Institutional Source

Beutler Lab

Gene Symbol

Tnni3k

Ensembl Gene

ENSMUSG00000040086

Gene Name

TNNI3 interacting kinase

Synonyms

Cark, D830019J24Rik

MMRRC Submission

039720-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154786291-155055407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154939626 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 541 (I541F)

Ref Sequence

ENSEMBL: ENSMUSP00000122478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064076] [ENSMUST00000143410]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064076
AA Change: I541F

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000070561
Gene: ENSMUSG00000040086
AA Change: I541F

Domain	Start	End	E-Value	Type
coiled coil region	21	49	N/A	INTRINSIC
ANK	66	96	9.46e1	SMART
ANK	100	129	4.43e-2	SMART
ANK	133	162	3.15e-7	SMART
ANK	166	195	6.12e-5	SMART
ANK	199	229	1.65e-1	SMART
ANK	233	264	6.07e0	SMART
ANK	268	299	8.99e-3	SMART
ANK	303	334	1.19e-2	SMART
ANK	338	367	7.76e-7	SMART
ANK	380	409	2.43e1	SMART
Pfam:Pkinase	462	718	6.7e-48	PFAM
Pfam:Pkinase_Tyr	462	718	2.1e-59	PFAM
low complexity region	727	750	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143410
AA Change: I541F

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122478
Gene: ENSMUSG00000040086
AA Change: I541F

Domain	Start	End	E-Value	Type
coiled coil region	21	49	N/A	INTRINSIC
ANK	66	96	9.46e1	SMART
ANK	100	129	4.43e-2	SMART
ANK	133	162	3.15e-7	SMART
ANK	166	195	6.12e-5	SMART
ANK	199	229	1.65e-1	SMART
ANK	233	264	6.07e0	SMART
ANK	268	299	8.99e-3	SMART
ANK	303	334	1.19e-2	SMART
ANK	338	367	7.76e-7	SMART
ANK	380	409	2.43e1	SMART
Pfam:Pkinase	462	674	3.5e-48	PFAM
Pfam:Pkinase_Tyr	462	674	3.6e-52	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a conditional allele activated in cardiac myocytes exhibit decreased response to cardiac ischemic/reperfusion injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,293,888	F931I	probably benign	Het
Alox15	T	A	11: 70,349,918	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,537	V268D	probably benign	Het
Armc9	A	G	1: 86,156,955	M1V	probably null	Het
BB287469	A	G	12: 87,819,718	D133G	unknown	Het
Brca1	C	T	11: 101,489,840	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,736,759	V138A	probably benign	Het
Camsap1	A	G	2: 25,939,615	F699S	probably damaging	Het
Ccm2	A	G	11: 6,585,118	R67G	probably damaging	Het
Cdk16	G	A	X: 20,696,659		probably null	Het
Cep85	T	C	4: 134,148,013	H546R	probably benign	Het
Cfap54	T	C	10: 92,932,640	D207G	probably damaging	Het
Cldn9	G	T	17: 23,683,076	R192S	probably benign	Het
Crybb3	A	G	5: 113,079,767	S63P	probably damaging	Het
Cux1	A	G	5: 136,312,669	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 32,910,407		probably benign	Het
Dnah3	A	T	7: 120,045,786		probably null	Het
Eml6	G	A	11: 29,833,187	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,617,366	V610A	probably benign	Het
Fam234a	T	C	17: 26,215,308	Y333C	probably damaging	Het
Fbln1	G	A	15: 85,227,106	V154I	probably benign	Het
Frem2	A	T	3: 53,653,952	W1045R	probably benign	Het
Fubp1	A	G	3: 152,228,201		probably benign	Het
Gja3	T	A	14: 57,036,876	N13I	probably damaging	Het
Gpr20	C	A	15: 73,695,902	V213L	probably benign	Het
Grk5	T	C	19: 61,076,783	I295T	probably damaging	Het
Gucy1b1	A	G	3: 82,038,042	F430L	probably damaging	Het
Gzmk	T	A	13: 113,173,928	I119L	probably benign	Het
Hadh	T	C	3: 131,245,249	I153V	probably benign	Het
Hsfy2	T	C	1: 56,636,853	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,775,824	I560T	probably benign	Het
Igdcc4	T	C	9: 65,131,663	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,632,872	D216G	probably benign	Het
Klc2	G	A	19: 5,111,654	P303S	probably damaging	Het
Lama5	C	T	2: 180,194,066	V1192I	probably benign	Het
Mon2	A	G	10: 123,026,124	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,672,478	L96Q	probably damaging	Het
Mzf1	C	A	7: 13,052,771	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,520,585	I726T	probably damaging	Het
Ndnf	A	T	6: 65,703,423	T229S	probably benign	Het
Npas3	A	T	12: 54,048,875		probably null	Het
Nrap	C	T	19: 56,355,529	E729K	probably damaging	Het
Nsun2	T	A	13: 69,627,597	F387I	probably damaging	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 164,044,306	T452M	probably benign	Het
Pcdh10	T	C	3: 45,380,015	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,700,019	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,884,704		probably benign	Het
Pkp2	T	C	16: 16,268,709		probably null	Het
Ppard	A	G	17: 28,297,180	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,290,533	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,270,279	T287A	probably damaging	Het
Sema4b	T	C	7: 80,219,262	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,982,157	I640N	probably damaging	Het
Smurf2	C	A	11: 106,836,070		probably null	Het
Spag5	T	C	11: 78,304,929	V354A	probably benign	Het
Sptb	T	C	12: 76,603,699	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,981,250	L22F	probably benign	Het
Sugp2	T	C	8: 70,242,634	S86P	probably damaging	Het
Tnk1	T	C	11: 69,856,473	I111V	possibly damaging	Het
Trim36	G	T	18: 46,188,657	H108N	possibly damaging	Het
Ttn	T	C	2: 76,870,907		probably benign	Het
Usp28	T	A	9: 49,024,017	S89R	probably benign	Het
Vmn2r121	T	C	X: 124,132,791	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,940,818	Y630F	probably benign	Het
Washc2	T	A	6: 116,256,712	S900T	probably benign	Het
Wdr72	A	G	9: 74,210,199	N731S	probably benign	Het
Xrra1	T	A	7: 99,876,244	F123L	probably damaging	Het
Zfp648	A	G	1: 154,204,242	D49G	probably benign	Het

Other mutations in Tnni3k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Tnni3k	APN	3	155054555	missense	probably benign	0.00
IGL00852:Tnni3k	APN	3	155054569	missense	probably benign	0.00
IGL01090:Tnni3k	APN	3	154939683	missense	possibly damaging	0.69
IGL01593:Tnni3k	APN	3	154941029	splice site	probably null
IGL01724:Tnni3k	APN	3	154939626	missense	possibly damaging	0.53
IGL01887:Tnni3k	APN	3	154875187	splice site	probably null
IGL01992:Tnni3k	APN	3	154962026	missense	probably damaging	0.99
IGL02945:Tnni3k	APN	3	155037438	missense	possibly damaging	0.48
IGL02990:Tnni3k	APN	3	154957758	missense	probably benign	0.01
IGL03069:Tnni3k	APN	3	154941605	splice site	probably null
IGL03325:Tnni3k	APN	3	154961814	missense	probably damaging	1.00
IGL03405:Tnni3k	APN	3	154792767	splice site	probably benign
R0211:Tnni3k	UTSW	3	155055344	start gained	probably benign
R0682:Tnni3k	UTSW	3	154940028	missense	probably damaging	1.00
R0693:Tnni3k	UTSW	3	154961972	missense	probably damaging	1.00
R0907:Tnni3k	UTSW	3	154941679	missense	probably damaging	1.00
R1109:Tnni3k	UTSW	3	154792777	missense	possibly damaging	0.83
R1180:Tnni3k	UTSW	3	154875513	missense	probably damaging	1.00
R1181:Tnni3k	UTSW	3	154875513	missense	probably damaging	1.00
R1476:Tnni3k	UTSW	3	155030305	missense	probably benign	0.05
R1496:Tnni3k	UTSW	3	154939658	missense	probably damaging	1.00
R1704:Tnni3k	UTSW	3	154827508	missense	probably benign	0.27
R1913:Tnni3k	UTSW	3	154979199	missense	probably benign	0.00
R2343:Tnni3k	UTSW	3	154938829	missense	probably benign	0.00
R2374:Tnni3k	UTSW	3	154786785	missense	probably benign	0.12
R2869:Tnni3k	UTSW	3	154938750	critical splice donor site	probably null
R2869:Tnni3k	UTSW	3	154938750	critical splice donor site	probably null
R2871:Tnni3k	UTSW	3	154938750	critical splice donor site	probably null
R2871:Tnni3k	UTSW	3	154938750	critical splice donor site	probably null
R2872:Tnni3k	UTSW	3	154938750	critical splice donor site	probably null
R2872:Tnni3k	UTSW	3	154938750	critical splice donor site	probably null
R2873:Tnni3k	UTSW	3	154938750	critical splice donor site	probably null
R4858:Tnni3k	UTSW	3	154786808	splice site	probably null
R5597:Tnni3k	UTSW	3	154872128	missense	probably damaging	1.00
R5806:Tnni3k	UTSW	3	154827611	missense	possibly damaging	0.88
R5871:Tnni3k	UTSW	3	155030370	missense	probably benign	0.23
R6467:Tnni3k	UTSW	3	154969285	missense	probably damaging	0.97
R6475:Tnni3k	UTSW	3	154941058	nonsense	probably null
R6882:Tnni3k	UTSW	3	154957720	missense	possibly damaging	0.49
R6976:Tnni3k	UTSW	3	154792776	missense	probably benign	0.14
R6986:Tnni3k	UTSW	3	154961864	missense	probably damaging	1.00
R7207:Tnni3k	UTSW	3	154875145	missense	probably damaging	1.00
R7539:Tnni3k	UTSW	3	154962031	missense	probably benign	0.01
Z1088:Tnni3k	UTSW	3	154939670	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAACCACCCCATAGTTGCTGTCC -3'
(R):5'- GACATGAATGTGTCCCCACTCCTG -3'

Sequencing Primer
(F):5'- TGCTGTCCGCAGAGATCTAAG -3'
(R):5'- ACTCCTGTCCTAGATACCGAG -3'

Posted On

2014-05-14