Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01887:Tnni3k'

179179

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01887

Quality Score

Status

Chromosome

Chromosomal Location

154491928-154761044 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 154580824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000070561 (fasta)

Gene Model

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

AlphaFold

Q5GIG6

Predicted Effect

probably null
Transcript: ENSMUST00000064076

SMART Domains

Protein: ENSMUSP00000070561
Gene: ENSMUSG00000040086

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

SMART Domains

Protein: ENSMUSP00000122478
Gene: ENSMUSG00000040086

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

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl2	C	A	10: 83,457,386 (GRCm39)		probably benign	Het
Atosa	A	G	9: 74,924,339 (GRCm39)	I861V	probably benign	Het
Faap20	T	C	4: 155,340,657 (GRCm39)	V158A	probably damaging	Het
Filip1	A	T	9: 79,726,899 (GRCm39)	D573E	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Lins1	T	C	7: 66,360,129 (GRCm39)	I168T	probably damaging	Het
Myo5b	A	G	18: 74,848,007 (GRCm39)	R1082G	probably benign	Het
Or5aq1	A	G	2: 86,965,885 (GRCm39)	I260T	possibly damaging	Het
Or8k39	A	G	2: 86,563,030 (GRCm39)	C309R	probably benign	Het
Pomt2	C	T	12: 87,166,363 (GRCm39)	V439I	probably damaging	Het
Rars1	A	T	11: 35,716,822 (GRCm39)	D231E	probably benign	Het
Shisal1	A	G	15: 84,290,851 (GRCm39)	L152P	probably damaging	Het
Slf1	A	T	13: 77,249,101 (GRCm39)	N362K	probably benign	Het
Smad2	T	C	18: 76,432,965 (GRCm39)	V299A	probably damaging	Het
Tead2	T	C	7: 44,881,734 (GRCm39)	V84A	probably damaging	Het
Trp63	C	T	16: 25,684,069 (GRCm39)	R319C	probably damaging	Het
Vmn1r203	G	A	13: 22,709,046 (GRCm39)	V276I	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfp318	G	T	17: 46,710,094 (GRCm39)	V606L	probably benign	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
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
R2343:Tnni3k	UTSW	3	154,644,466 (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

Posted On

2014-05-07