Incidental Mutation 'IGL03069:Tnni3k'
ID |
409840 |
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)
|
Stock # |
IGL03069
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
154491928-154761044 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to A
at 154647242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070561
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064076]
[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 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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029H14Rik |
T |
G |
8: 13,607,704 (GRCm39) |
|
probably null |
Het |
Acp3 |
T |
C |
9: 104,197,204 (GRCm39) |
E145G |
possibly damaging |
Het |
Ankrd28 |
T |
A |
14: 31,477,743 (GRCm39) |
K42* |
probably null |
Het |
Arsg |
A |
T |
11: 109,454,082 (GRCm39) |
K429N |
probably damaging |
Het |
Bsn |
G |
A |
9: 107,991,462 (GRCm39) |
T1430I |
probably damaging |
Het |
Calu |
A |
G |
6: 29,356,582 (GRCm39) |
D36G |
possibly damaging |
Het |
Ccdc18 |
T |
C |
5: 108,376,767 (GRCm39) |
S1403P |
probably damaging |
Het |
Cdca2 |
A |
G |
14: 67,952,385 (GRCm39) |
|
probably benign |
Het |
Cfh |
C |
A |
1: 140,026,793 (GRCm39) |
|
probably benign |
Het |
Cyp2c69 |
C |
T |
19: 39,869,537 (GRCm39) |
G161S |
probably benign |
Het |
Dennd4c |
C |
A |
4: 86,692,674 (GRCm39) |
Y61* |
probably null |
Het |
Diaph3 |
A |
G |
14: 87,009,555 (GRCm39) |
S1075P |
probably damaging |
Het |
Dpp7 |
T |
A |
2: 25,245,735 (GRCm39) |
|
probably null |
Het |
Dtd1 |
T |
A |
2: 144,588,981 (GRCm39) |
|
probably benign |
Het |
Dtl |
C |
A |
1: 191,289,008 (GRCm39) |
|
probably benign |
Het |
Exoc3l4 |
A |
G |
12: 111,390,457 (GRCm39) |
D344G |
probably damaging |
Het |
Hsp90ab1 |
A |
T |
17: 45,879,954 (GRCm39) |
C159S |
possibly damaging |
Het |
Kcnip2 |
T |
C |
19: 45,784,710 (GRCm39) |
|
probably benign |
Het |
Krba1 |
A |
G |
6: 48,391,483 (GRCm39) |
T755A |
possibly damaging |
Het |
L2hgdh |
C |
T |
12: 69,739,173 (GRCm39) |
V433I |
probably benign |
Het |
Lamc1 |
A |
T |
1: 153,115,127 (GRCm39) |
L1050I |
probably damaging |
Het |
Lgals4 |
A |
T |
7: 28,540,343 (GRCm39) |
I213L |
probably benign |
Het |
Lysmd1 |
A |
G |
3: 95,044,945 (GRCm39) |
I64V |
probably damaging |
Het |
Mfsd4b4 |
A |
C |
10: 39,768,311 (GRCm39) |
C261G |
probably benign |
Het |
Mrgprb3 |
T |
A |
7: 48,293,198 (GRCm39) |
I118F |
possibly damaging |
Het |
Mtmr2 |
T |
A |
9: 13,704,501 (GRCm39) |
Y137* |
probably null |
Het |
Ofcc1 |
A |
T |
13: 40,226,140 (GRCm39) |
H797Q |
probably benign |
Het |
Omd |
A |
T |
13: 49,745,870 (GRCm39) |
|
probably benign |
Het |
Or5d46 |
C |
T |
2: 88,170,643 (GRCm39) |
|
probably null |
Het |
Or8g21 |
A |
T |
9: 38,906,728 (GRCm39) |
M1K |
probably null |
Het |
Polr3a |
T |
A |
14: 24,511,808 (GRCm39) |
D916V |
probably damaging |
Het |
Prpf38a |
T |
C |
4: 108,432,628 (GRCm39) |
Y117C |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,619,029 (GRCm39) |
G771D |
probably benign |
Het |
Smarca4 |
C |
T |
9: 21,547,132 (GRCm39) |
T219I |
probably benign |
Het |
Snx1 |
T |
A |
9: 66,001,906 (GRCm39) |
I306F |
probably benign |
Het |
Snx31 |
T |
A |
15: 36,525,749 (GRCm39) |
R317* |
probably null |
Het |
Sorl1 |
T |
C |
9: 41,902,722 (GRCm39) |
T1612A |
probably benign |
Het |
Spag1 |
G |
T |
15: 36,224,245 (GRCm39) |
|
probably benign |
Het |
Stambp |
A |
G |
6: 83,538,914 (GRCm39) |
F162S |
probably damaging |
Het |
Tkfc |
T |
A |
19: 10,576,518 (GRCm39) |
M122L |
probably benign |
Het |
Trim56 |
T |
C |
5: 137,142,616 (GRCm39) |
Q300R |
probably damaging |
Het |
Ttc24 |
T |
A |
3: 87,977,408 (GRCm39) |
T113S |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,339,876 (GRCm39) |
T706S |
possibly damaging |
Het |
Yipf5 |
T |
A |
18: 40,339,290 (GRCm39) |
|
probably benign |
Het |
Zfp202 |
T |
C |
9: 40,122,695 (GRCm39) |
S486P |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,369,100 (GRCm39) |
S1676P |
probably damaging |
Het |
Znrd2 |
G |
T |
19: 5,780,450 (GRCm39) |
L183I |
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 |
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 |
2016-08-02 |