Mutagenetix > Incidental Mutation

Incidental Mutation 'R4858:Tnni3k'

374473

Institutional Source

Beutler Lab

Gene Symbol

Tnni3k

Ensembl Gene

ENSMUSG00000040086

Gene Name

TNNI3 interacting kinase

Synonyms

Cark, D830019J24Rik

MMRRC Submission

042469-MU

Accession Numbers

Essential gene?

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

Stock #

R4858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154491928-154761044 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 154492445 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

94% (103/109)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,225,321 (GRCm39)	Y1415C	probably damaging	Het
Adgrf1	T	C	17: 43,614,563 (GRCm39)	S216P	probably damaging	Het
Ankrd12	T	C	17: 66,338,428 (GRCm39)	D197G	probably damaging	Het
Aoc3	C	A	11: 101,222,488 (GRCm39)	H198Q	probably damaging	Het
Aox1	C	A	1: 58,143,640 (GRCm39)	H1253N	probably benign	Het
Arg1	T	A	10: 24,798,536 (GRCm39)	E38V	possibly damaging	Het
Baz2b	T	A	2: 59,738,087 (GRCm39)	M1741L	probably benign	Het
Bend4	T	C	5: 67,574,915 (GRCm39)	E322G	probably damaging	Het
Brpf1	T	C	6: 113,294,639 (GRCm39)	V661A	possibly damaging	Het
C2cd3	A	T	7: 100,104,160 (GRCm39)	T2058S	probably damaging	Het
Camk4	T	C	18: 33,309,266 (GRCm39)	V223A	probably damaging	Het
Casp1	C	T	9: 5,306,742 (GRCm39)	R395C	probably damaging	Het
Ccdc180	T	G	4: 45,923,244 (GRCm39)	I1066S	probably damaging	Het
Ccne1	A	G	7: 37,798,744 (GRCm39)	F292L	probably damaging	Het
Ccz1	A	T	5: 143,949,628 (GRCm39)	M100K	probably damaging	Het
Cep128	T	C	12: 91,226,936 (GRCm39)	T678A	probably benign	Het
Cep290	G	A	10: 100,330,773 (GRCm39)	R151Q	probably benign	Het
Crip3	A	G	17: 46,741,673 (GRCm39)		probably benign	Het
Ddx60	A	G	8: 62,474,348 (GRCm39)	M1479V	possibly damaging	Het
Defb40	T	A	8: 19,025,093 (GRCm39)	I38F	probably benign	Het
Dnajb2	C	T	1: 75,220,198 (GRCm39)	T221I	possibly damaging	Het
Dpysl3	T	C	18: 43,467,079 (GRCm39)	I279V	probably damaging	Het
Echs1	G	A	7: 139,692,499 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,835 (GRCm39)	N89K	probably damaging	Het
Extl3	T	C	14: 65,313,443 (GRCm39)	T580A	probably benign	Het
Fam171a2	C	T	11: 102,330,982 (GRCm39)	G193E	probably damaging	Het
Fam234a	A	T	17: 26,435,591 (GRCm39)	D264E	probably benign	Het
Fbxw20	A	T	9: 109,063,763 (GRCm39)	V3D	possibly damaging	Het
Fig4	G	A	10: 41,109,586 (GRCm39)	P637L	probably benign	Het
Fnbp1l	G	A	3: 122,339,964 (GRCm39)	T496I	probably benign	Het
Fry	T	C	5: 150,325,108 (GRCm39)	V1175A	possibly damaging	Het
Gm5617	C	T	9: 48,406,968 (GRCm39)	A34V	possibly damaging	Het
Gnai1	A	T	5: 18,496,596 (GRCm39)	V109E	probably benign	Het
H2-K2	A	T	17: 34,216,298 (GRCm39)	Y283N	probably benign	Het
Hectd2	A	T	19: 36,582,682 (GRCm39)	I471F	probably damaging	Het
Hsdl2	T	C	4: 59,612,812 (GRCm39)		probably null	Het
Igkv3-1	T	C	6: 70,681,028 (GRCm39)	S76P	probably damaging	Het
Krt15	A	T	11: 100,022,897 (GRCm39)	S439R	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lima1	G	A	15: 99,717,457 (GRCm39)	T23I	probably benign	Het
Map4k1	C	A	7: 28,688,195 (GRCm39)	H248Q	probably damaging	Het
Mcf2l	C	A	8: 13,063,972 (GRCm39)	T1004K	probably damaging	Het
Meak7	T	G	8: 120,499,262 (GRCm39)	T77P	probably benign	Het
Micall1	T	A	15: 79,007,146 (GRCm39)		probably benign	Het
Ms4a14	A	G	19: 11,278,976 (GRCm39)	I1194T	probably benign	Het
Mtor	T	C	4: 148,539,273 (GRCm39)	*257Q	probably null	Het
Mucl3	G	A	17: 35,948,468 (GRCm39)	T377I	possibly damaging	Het
Ncan	T	A	8: 70,556,705 (GRCm39)	T961S	probably benign	Het
Odad4	A	G	11: 100,441,147 (GRCm39)	N126S	probably damaging	Het
Or10z1	A	T	1: 174,078,262 (GRCm39)	I77N	probably damaging	Het
Or1e29	T	A	11: 73,667,372 (GRCm39)	L260F	probably benign	Het
Or1f19	T	C	16: 3,410,706 (GRCm39)	S149P	probably damaging	Het
Or2t49	T	A	11: 58,392,735 (GRCm39)	I216F	probably damaging	Het
Or8h10	T	G	2: 86,808,693 (GRCm39)	Y149S	probably damaging	Het
Or9e1	T	A	11: 58,732,033 (GRCm39)	L31H	possibly damaging	Het
Pcdhgb2	A	G	18: 37,825,153 (GRCm39)	R715G	probably benign	Het
Pik3c3	T	C	18: 30,477,131 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,354,497 (GRCm39)	D296V	probably damaging	Het
Plekhh2	A	G	17: 84,908,125 (GRCm39)	I1189V	probably damaging	Het
Psg18	A	T	7: 18,087,409 (GRCm39)	L83Q	possibly damaging	Het
Rps6kc1	A	G	1: 190,532,515 (GRCm39)	W496R	probably damaging	Het
Setd5	C	T	6: 113,126,527 (GRCm39)	T1188I	probably damaging	Het
Slc4a3	T	C	1: 75,531,729 (GRCm39)	F899L	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Speg	G	T	1: 75,398,379 (GRCm39)	R1942L	probably damaging	Het
Sulf2	C	A	2: 165,923,524 (GRCm39)	R565L	probably benign	Het
Tcerg1	T	C	18: 42,657,046 (GRCm39)	M176T	unknown	Het
Tfcp2l1	T	C	1: 118,597,239 (GRCm39)	I440T	possibly damaging	Het
Tgm7	A	T	2: 120,929,445 (GRCm39)		probably null	Het
Tjp2	C	A	19: 24,099,484 (GRCm39)	G433V	probably damaging	Het
Tmc7	C	T	7: 118,142,565 (GRCm39)	G608R	probably damaging	Het
Tmed4	A	G	11: 6,224,456 (GRCm39)	F68S	possibly damaging	Het
Tmem30b	G	A	12: 73,592,686 (GRCm39)	P143L	probably damaging	Het
Tnfrsf23	C	T	7: 143,235,217 (GRCm39)	C49Y	probably damaging	Het
Trav12-2	G	T	14: 53,854,150 (GRCm39)	M41I	probably benign	Het
Trim6	T	A	7: 103,881,692 (GRCm39)	Y314*	probably null	Het
Utp25	A	G	1: 192,796,072 (GRCm39)	Y686H	probably damaging	Het
Vmn2r118	A	G	17: 55,899,894 (GRCm39)	V670A	probably damaging	Het
Zfp438	A	T	18: 5,213,154 (GRCm39)	D601E	probably benign	Het
Zfp606	T	A	7: 12,226,983 (GRCm39)	I310N	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
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
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'- TACGTGAGCGCAGAATAAGC -3'
(R):5'- CCATCTGGCATCAACTCCATGC -3'

Sequencing Primer
(F):5'- CCTCAGAGGGCAGAGCATTATAATTG -3'
(R):5'- CAACTCCATGCTTCCATTTTAAATC -3'

Posted On

2016-03-16