Mutagenetix > Incidental Mutation

Incidental Mutation 'R2343:Tnni3k'

245896

Institutional Source

Beutler Lab

Gene Symbol

Tnni3k

Ensembl Gene

ENSMUSG00000040086

Gene Name

TNNI3 interacting kinase

Synonyms

Cark, D830019J24Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.279) question?

Stock #

R2343 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154491928-154761044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154644466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 564 (I564T)

Ref Sequence

ENSEMBL: ENSMUSP00000122478 (fasta)

Gene Model

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

AlphaFold

Q5GIG6

Predicted Effect

probably benign
Transcript: ENSMUST00000064076
AA Change: I564T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000070561
Gene: ENSMUSG00000040086
AA Change: I564T

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

probably benign
Transcript: ENSMUST00000143410
AA Change: I564T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000122478
Gene: ENSMUSG00000040086
AA Change: I564T

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcr	T	C	10: 74,981,254 (GRCm39)	I691T	probably benign	Het
Col20a1	A	G	2: 180,643,124 (GRCm39)	T865A	possibly damaging	Het
Dmxl1	G	A	18: 50,023,745 (GRCm39)	R1676H	probably damaging	Het
Dsg2	T	C	18: 20,735,355 (GRCm39)	V1111A	probably damaging	Het
Eif3g	T	C	9: 20,806,450 (GRCm39)	Y213C	probably damaging	Het
Fat4	C	T	3: 39,011,254 (GRCm39)	S2118F	probably damaging	Het
Gpr85	A	G	6: 13,836,695 (GRCm39)	S70P	probably damaging	Het
Krtap31-1	A	C	11: 99,798,847 (GRCm39)	T17P	possibly damaging	Het
Lig1	A	G	7: 13,026,121 (GRCm39)		probably null	Het
Lman2l	A	T	1: 36,467,190 (GRCm39)	D269E	possibly damaging	Het
Mcc	A	G	18: 44,592,864 (GRCm39)		probably null	Het
Nav2	T	C	7: 49,248,565 (GRCm39)	F2302L	possibly damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or13p4	C	A	4: 118,547,384 (GRCm39)	M88I	probably benign	Het
Or4k38	A	G	2: 111,166,045 (GRCm39)	I126T	probably damaging	Het
Sema6c	T	C	3: 95,074,394 (GRCm39)	F67L	probably damaging	Het
Sez6l	A	T	5: 112,612,597 (GRCm39)	V448D	probably damaging	Het
Smoc2	A	G	17: 14,564,604 (GRCm39)	K160R	probably benign	Het
Spata2	A	T	2: 167,325,280 (GRCm39)	V513E	probably damaging	Het
Susd3	T	A	13: 49,392,335 (GRCm39)	M107L	probably damaging	Het
Zfp971	A	G	2: 177,674,787 (GRCm39)	K129E	possibly damaging	Het

Other mutations in Tnni3k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Tnni3k	APN	3	154,760,192 (GRCm39)	missense	probably benign	0.00
IGL00852:Tnni3k	APN	3	154,760,206 (GRCm39)	missense	probably benign	0.00
IGL01090:Tnni3k	APN	3	154,645,320 (GRCm39)	missense	possibly damaging	0.69
IGL01593:Tnni3k	APN	3	154,646,666 (GRCm39)	splice site	probably null
IGL01724:Tnni3k	APN	3	154,645,263 (GRCm39)	missense	possibly damaging	0.53
IGL01887:Tnni3k	APN	3	154,580,824 (GRCm39)	splice site	probably null
IGL01992:Tnni3k	APN	3	154,667,663 (GRCm39)	missense	probably damaging	0.99
IGL02945:Tnni3k	APN	3	154,743,075 (GRCm39)	missense	possibly damaging	0.48
IGL02990:Tnni3k	APN	3	154,663,395 (GRCm39)	missense	probably benign	0.01
IGL03069:Tnni3k	APN	3	154,647,242 (GRCm39)	splice site	probably null
IGL03325:Tnni3k	APN	3	154,667,451 (GRCm39)	missense	probably damaging	1.00
IGL03405:Tnni3k	APN	3	154,498,404 (GRCm39)	splice site	probably benign
R0211:Tnni3k	UTSW	3	154,760,981 (GRCm39)	start gained	probably benign
R0682:Tnni3k	UTSW	3	154,645,665 (GRCm39)	missense	probably damaging	1.00
R0693:Tnni3k	UTSW	3	154,667,609 (GRCm39)	missense	probably damaging	1.00
R0907:Tnni3k	UTSW	3	154,647,316 (GRCm39)	missense	probably damaging	1.00
R1109:Tnni3k	UTSW	3	154,498,414 (GRCm39)	missense	possibly damaging	0.83
R1180:Tnni3k	UTSW	3	154,581,150 (GRCm39)	missense	probably damaging	1.00
R1181:Tnni3k	UTSW	3	154,581,150 (GRCm39)	missense	probably damaging	1.00
R1476:Tnni3k	UTSW	3	154,735,942 (GRCm39)	missense	probably benign	0.05
R1496:Tnni3k	UTSW	3	154,645,295 (GRCm39)	missense	probably damaging	1.00
R1687:Tnni3k	UTSW	3	154,645,263 (GRCm39)	missense	possibly damaging	0.53
R1704:Tnni3k	UTSW	3	154,533,145 (GRCm39)	missense	probably benign	0.27
R1913:Tnni3k	UTSW	3	154,684,836 (GRCm39)	missense	probably benign	0.00
R2374:Tnni3k	UTSW	3	154,492,422 (GRCm39)	missense	probably benign	0.12
R2869:Tnni3k	UTSW	3	154,644,387 (GRCm39)	critical splice donor site	probably null
R2869:Tnni3k	UTSW	3	154,644,387 (GRCm39)	critical splice donor site	probably null
R2871:Tnni3k	UTSW	3	154,644,387 (GRCm39)	critical splice donor site	probably null
R2871:Tnni3k	UTSW	3	154,644,387 (GRCm39)	critical splice donor site	probably null
R2872:Tnni3k	UTSW	3	154,644,387 (GRCm39)	critical splice donor site	probably null
R2872:Tnni3k	UTSW	3	154,644,387 (GRCm39)	critical splice donor site	probably null
R2873:Tnni3k	UTSW	3	154,644,387 (GRCm39)	critical splice donor site	probably null
R4858:Tnni3k	UTSW	3	154,492,445 (GRCm39)	splice site	probably null
R5597:Tnni3k	UTSW	3	154,577,765 (GRCm39)	missense	probably damaging	1.00
R5806:Tnni3k	UTSW	3	154,533,248 (GRCm39)	missense	possibly damaging	0.88
R5871:Tnni3k	UTSW	3	154,736,007 (GRCm39)	missense	probably benign	0.23
R6467:Tnni3k	UTSW	3	154,674,922 (GRCm39)	missense	probably damaging	0.97
R6475:Tnni3k	UTSW	3	154,646,695 (GRCm39)	nonsense	probably null
R6882:Tnni3k	UTSW	3	154,663,357 (GRCm39)	missense	possibly damaging	0.49
R6976:Tnni3k	UTSW	3	154,498,413 (GRCm39)	missense	probably benign	0.14
R6986:Tnni3k	UTSW	3	154,667,501 (GRCm39)	missense	probably damaging	1.00
R7207:Tnni3k	UTSW	3	154,580,782 (GRCm39)	missense	probably damaging	1.00
R7539:Tnni3k	UTSW	3	154,667,668 (GRCm39)	missense	probably benign	0.01
R7843:Tnni3k	UTSW	3	154,744,161 (GRCm39)	missense	probably damaging	0.98
R8546:Tnni3k	UTSW	3	154,498,444 (GRCm39)	missense	probably benign
R8787:Tnni3k	UTSW	3	154,645,691 (GRCm39)	missense	probably damaging	0.99
R9011:Tnni3k	UTSW	3	154,562,186 (GRCm39)	missense	probably damaging	1.00
R9031:Tnni3k	UTSW	3	154,744,146 (GRCm39)	missense	probably damaging	1.00
R9098:Tnni3k	UTSW	3	154,647,314 (GRCm39)	missense	possibly damaging	0.67
R9616:Tnni3k	UTSW	3	154,667,724 (GRCm39)	nonsense	probably null
R9655:Tnni3k	UTSW	3	154,645,410 (GRCm39)	nonsense	probably null
R9733:Tnni3k	UTSW	3	154,562,244 (GRCm39)	missense	probably damaging	1.00
Z1088:Tnni3k	UTSW	3	154,645,307 (GRCm39)	missense	probably damaging	1.00
Z1176:Tnni3k	UTSW	3	154,744,194 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCTACGAGACCATGGCAG -3'
(R):5'- TCCAGACTGAACATTTAACTCCATC -3'

Sequencing Primer
(F):5'- CCTTTCCACAGTGTGCATAGAG -3'
(R):5'- GAACATTTAACTCCATCTTCAATGTG -3'

Posted On

2014-10-30