Incidental Mutation 'IGL01090:Tnni3k'
| ID |
50727 |
| 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 # |
IGL01090
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
154491928-154761044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 154645320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 522
(Q522K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064076]
[ENSMUST00000143410]
|
| AlphaFold |
Q5GIG6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064076
AA Change: Q522K
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000070561
Gene: ENSMUSG00000040086
AA Change: Q522K
| 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: Q522K
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122478
Gene: ENSMUSG00000040086
AA Change: Q522K
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
C |
6: 91,896,099 (GRCm39) |
S316P |
possibly damaging |
Het |
| Actn1 |
A |
T |
12: 80,245,846 (GRCm39) |
|
probably null |
Het |
| Agbl3 |
T |
C |
6: 34,776,822 (GRCm39) |
Y443H |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,316,279 (GRCm39) |
D578E |
probably benign |
Het |
| Aldoa |
A |
T |
7: 126,395,207 (GRCm39) |
H292Q |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,254,775 (GRCm39) |
K194R |
possibly damaging |
Het |
| Bivm |
C |
A |
1: 44,168,451 (GRCm39) |
H244N |
probably damaging |
Het |
| Cabp5 |
G |
A |
7: 13,139,412 (GRCm39) |
E146K |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cfap251 |
A |
C |
5: 123,418,052 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,297,035 (GRCm39) |
V129A |
probably benign |
Het |
| Clec4g |
A |
G |
8: 3,769,482 (GRCm39) |
S54P |
probably damaging |
Het |
| Crim1 |
G |
T |
17: 78,654,658 (GRCm39) |
V645L |
probably damaging |
Het |
| Csta1 |
T |
C |
16: 35,945,421 (GRCm39) |
T31A |
probably damaging |
Het |
| D930048N14Rik |
T |
C |
11: 51,544,610 (GRCm39) |
|
probably benign |
Het |
| Dhx34 |
G |
T |
7: 15,950,181 (GRCm39) |
P329Q |
probably damaging |
Het |
| Dusp16 |
T |
C |
6: 134,702,912 (GRCm39) |
N193S |
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,236,696 (GRCm39) |
|
probably benign |
Het |
| Fbxo46 |
A |
G |
7: 18,870,728 (GRCm39) |
Y449C |
probably damaging |
Het |
| Fmo4 |
C |
A |
1: 162,637,354 (GRCm39) |
|
probably null |
Het |
| Foxi3 |
C |
A |
6: 70,937,729 (GRCm39) |
N320K |
probably damaging |
Het |
| Gm9964 |
A |
G |
11: 79,187,210 (GRCm39) |
L79P |
unknown |
Het |
| Gpr161 |
T |
C |
1: 165,134,149 (GRCm39) |
I137T |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,376,457 (GRCm39) |
Q3426* |
probably null |
Het |
| Hps5 |
C |
T |
7: 46,437,751 (GRCm39) |
R108H |
probably benign |
Het |
| Itch |
T |
A |
2: 155,048,256 (GRCm39) |
V540E |
probably damaging |
Het |
| L3mbtl1 |
C |
A |
2: 162,807,925 (GRCm39) |
P520H |
probably damaging |
Het |
| Mvp |
A |
G |
7: 126,588,859 (GRCm39) |
V636A |
probably benign |
Het |
| Odf4 |
A |
G |
11: 68,812,778 (GRCm39) |
|
probably benign |
Het |
| Or7g18 |
A |
G |
9: 18,787,538 (GRCm39) |
K305R |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,142,816 (GRCm39) |
S675P |
probably benign |
Het |
| Plod3 |
A |
G |
5: 137,019,090 (GRCm39) |
D325G |
probably benign |
Het |
| Prss12 |
T |
C |
3: 123,276,388 (GRCm39) |
V339A |
possibly damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,689,180 (GRCm39) |
L991Q |
probably null |
Het |
| Ptpn3 |
T |
A |
4: 57,240,833 (GRCm39) |
I261F |
probably damaging |
Het |
| Rab3gap1 |
T |
C |
1: 127,858,124 (GRCm39) |
|
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,130,847 (GRCm39) |
R373G |
possibly damaging |
Het |
| Rmi1 |
T |
C |
13: 58,557,208 (GRCm39) |
S486P |
probably damaging |
Het |
| Slc25a23 |
A |
G |
17: 57,354,233 (GRCm39) |
I139T |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,467,059 (GRCm39) |
S4017T |
probably benign |
Het |
| Tcaf1 |
C |
A |
6: 42,663,556 (GRCm39) |
C108F |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,918,317 (GRCm39) |
Q1198R |
probably damaging |
Het |
| Trio |
T |
A |
15: 27,773,093 (GRCm39) |
E713V |
probably damaging |
Het |
| Ugt2b34 |
C |
A |
5: 87,041,679 (GRCm39) |
V338F |
probably damaging |
Het |
| Usp40 |
T |
A |
1: 87,890,187 (GRCm39) |
M892L |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,636,225 (GRCm39) |
|
probably benign |
Het |
| Vmn2r53 |
T |
C |
7: 12,334,835 (GRCm39) |
E275G |
possibly damaging |
Het |
| Vmn2r87 |
A |
G |
10: 130,333,247 (GRCm39) |
M1T |
probably null |
Het |
| Wdr83os |
A |
T |
8: 85,808,476 (GRCm39) |
D76V |
probably 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 |
|
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 |
|
|
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 |
2013-06-21 |
Incidental Mutation