Incidental Mutation 'IGL02945:Tnni3k'
| ID |
364694 |
| 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 # |
IGL02945
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
154491928-154761044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 154743075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 95
(S95T)
|
| 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: S95T
PolyPhen 2
Score 0.477 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070561
Gene: ENSMUSG00000040086
AA Change: S95T
| 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: S95T
PolyPhen 2
Score 0.477 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122478
Gene: ENSMUSG00000040086
AA Change: S95T
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146952
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411G06Rik |
A |
T |
10: 51,633,095 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrf4 |
T |
C |
17: 42,978,257 (GRCm39) |
Q362R |
probably benign |
Het |
| Akap6 |
A |
G |
12: 52,927,620 (GRCm39) |
N177D |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,597,915 (GRCm39) |
I914V |
probably damaging |
Het |
| Arhgap11a |
A |
T |
2: 113,667,818 (GRCm39) |
S394R |
possibly damaging |
Het |
| Cacna1h |
C |
T |
17: 25,607,033 (GRCm39) |
V962I |
probably damaging |
Het |
| Calr3 |
A |
T |
8: 73,192,401 (GRCm39) |
L91Q |
probably damaging |
Het |
| Ccnf |
T |
C |
17: 24,443,890 (GRCm39) |
E626G |
probably damaging |
Het |
| Clec10a |
A |
T |
11: 70,061,368 (GRCm39) |
I295F |
possibly damaging |
Het |
| Cop1 |
A |
T |
1: 159,134,259 (GRCm39) |
N167I |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 16,321,584 (GRCm39) |
Q505K |
possibly damaging |
Het |
| Ctrc |
A |
C |
4: 141,573,563 (GRCm39) |
V6G |
possibly damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,875,091 (GRCm39) |
R21G |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,270,572 (GRCm39) |
H958R |
probably benign |
Het |
| Egfr |
T |
A |
11: 16,702,514 (GRCm39) |
L11Q |
probably damaging |
Het |
| Erich2 |
A |
G |
2: 70,364,738 (GRCm39) |
T371A |
probably damaging |
Het |
| Fbxl21 |
T |
A |
13: 56,674,983 (GRCm39) |
F111L |
probably damaging |
Het |
| Grik4 |
G |
T |
9: 42,509,175 (GRCm39) |
T416N |
possibly damaging |
Het |
| Grin3a |
A |
G |
4: 49,792,971 (GRCm39) |
V254A |
possibly damaging |
Het |
| Hat1 |
G |
A |
2: 71,251,037 (GRCm39) |
R195K |
probably benign |
Het |
| Hmgb4 |
A |
C |
4: 128,154,387 (GRCm39) |
Y60* |
probably null |
Het |
| Ighv12-3 |
A |
G |
12: 114,330,337 (GRCm39) |
W53R |
probably damaging |
Het |
| Irs2 |
C |
A |
8: 11,057,781 (GRCm39) |
C217F |
probably damaging |
Het |
| Kcnb1 |
T |
C |
2: 167,030,308 (GRCm39) |
E79G |
probably benign |
Het |
| Lingo3 |
A |
G |
10: 80,670,532 (GRCm39) |
I466T |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,935,783 (GRCm39) |
S3665P |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,646,205 (GRCm39) |
L1926Q |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,399,088 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,245,569 (GRCm39) |
F198L |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,557,697 (GRCm39) |
T63A |
probably damaging |
Het |
| Nle1 |
A |
T |
11: 82,794,910 (GRCm39) |
|
probably benign |
Het |
| Nr3c2 |
A |
T |
8: 77,636,288 (GRCm39) |
D463V |
probably damaging |
Het |
| Or5k17 |
A |
T |
16: 58,746,703 (GRCm39) |
I77N |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,812 (GRCm39) |
I215V |
probably benign |
Het |
| Pcdhb18 |
T |
C |
18: 37,623,048 (GRCm39) |
I126T |
probably benign |
Het |
| Pgm1 |
A |
G |
4: 99,818,731 (GRCm39) |
I127V |
probably benign |
Het |
| Rai14 |
A |
G |
15: 10,574,795 (GRCm39) |
I721T |
probably benign |
Het |
| Rps6ka1 |
A |
G |
4: 133,594,510 (GRCm39) |
Y57H |
probably damaging |
Het |
| Scara3 |
T |
A |
14: 66,168,660 (GRCm39) |
D319V |
probably damaging |
Het |
| Selp |
G |
A |
1: 163,961,498 (GRCm39) |
G404S |
probably damaging |
Het |
| Serinc3 |
A |
G |
2: 163,472,836 (GRCm39) |
|
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,705,080 (GRCm39) |
|
probably null |
Het |
| Spen |
G |
T |
4: 141,221,624 (GRCm39) |
L325I |
unknown |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Thumpd1 |
A |
T |
7: 119,315,970 (GRCm39) |
S326R |
possibly damaging |
Het |
| Tmem255b |
T |
C |
8: 13,505,141 (GRCm39) |
S149P |
probably damaging |
Het |
| Trim66 |
G |
A |
7: 109,059,383 (GRCm39) |
Q954* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,582,316 (GRCm39) |
I22859N |
probably damaging |
Het |
| Zfp319 |
A |
T |
8: 96,050,446 (GRCm39) |
|
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation