Incidental Mutation 'R5871:Tnni3k'
| ID |
490516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnni3k
|
| Ensembl Gene |
ENSMUSG00000040086 |
| Gene Name |
TNNI3 interacting kinase |
| Synonyms |
Cark, D830019J24Rik |
| MMRRC Submission |
043234-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R5871 (G1)
|
| Quality Score |
160 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
154491928-154761044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 154736007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 112
(D112V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064076]
[ENSMUST00000143410]
|
| AlphaFold |
Q5GIG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064076
AA Change: D112V
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000070561
Gene: ENSMUSG00000040086
AA Change: D112V
| 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
AA Change: D112V
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122478
Gene: ENSMUSG00000040086
AA Change: D112V
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
A |
T |
1: 173,159,640 (GRCm39) |
L293Q |
probably damaging |
Het |
| Ankrd13d |
A |
G |
19: 4,332,022 (GRCm39) |
V92A |
possibly damaging |
Het |
| Anxa5 |
T |
A |
3: 36,506,398 (GRCm39) |
Q218L |
possibly damaging |
Het |
| Bend6 |
T |
C |
1: 33,902,946 (GRCm39) |
M135V |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,924,558 (GRCm39) |
F54L |
probably benign |
Het |
| Chrng |
T |
C |
1: 87,134,451 (GRCm39) |
V164A |
possibly damaging |
Het |
| Clca3a1 |
T |
G |
3: 144,460,642 (GRCm39) |
S271R |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,752,112 (GRCm39) |
T1282I |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,519,057 (GRCm39) |
|
probably null |
Het |
| Esrrb |
A |
G |
12: 86,552,661 (GRCm39) |
Y196C |
probably benign |
Het |
| Fam76a |
T |
C |
4: 132,631,321 (GRCm39) |
D208G |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,533,243 (GRCm39) |
E520G |
probably benign |
Het |
| Fgf9 |
A |
T |
14: 58,320,656 (GRCm39) |
|
probably null |
Het |
| Gatb |
T |
A |
3: 85,561,083 (GRCm39) |
L533* |
probably null |
Het |
| Igsf10 |
G |
T |
3: 59,237,832 (GRCm39) |
A783D |
possibly damaging |
Het |
| Ldlrap1 |
A |
G |
4: 134,486,240 (GRCm39) |
I73T |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,507,280 (GRCm39) |
|
probably benign |
Het |
| Msr1 |
G |
A |
8: 40,064,693 (GRCm39) |
P327L |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,723,306 (GRCm39) |
Y823H |
probably damaging |
Het |
| Ncapg |
A |
G |
5: 45,853,039 (GRCm39) |
E835G |
probably damaging |
Het |
| Nfam1 |
A |
G |
15: 82,900,623 (GRCm39) |
S120P |
probably damaging |
Het |
| Or4k44 |
A |
G |
2: 111,367,984 (GRCm39) |
S217P |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,511 (GRCm39) |
V196A |
possibly damaging |
Het |
| Or8b49 |
T |
A |
9: 38,505,628 (GRCm39) |
I37K |
possibly damaging |
Het |
| Or9m2 |
T |
C |
2: 87,821,355 (GRCm39) |
F300S |
possibly damaging |
Het |
| Phtf2 |
A |
G |
5: 20,999,399 (GRCm39) |
V248A |
probably benign |
Het |
| Pik3r3 |
G |
T |
4: 116,143,355 (GRCm39) |
E283* |
probably null |
Het |
| Plcg2 |
T |
A |
8: 118,230,956 (GRCm39) |
Y13N |
probably damaging |
Het |
| Pth2r |
C |
T |
1: 65,427,796 (GRCm39) |
P490S |
probably damaging |
Het |
| Rnf40 |
T |
A |
7: 127,190,757 (GRCm39) |
M275K |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,948,014 (GRCm39) |
E1223G |
possibly damaging |
Het |
| Sec14l5 |
T |
A |
16: 4,986,717 (GRCm39) |
N168K |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,005,045 (GRCm39) |
V425A |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,387,027 (GRCm39) |
V13A |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,103,669 (GRCm39) |
|
probably null |
Het |
| Tbrg1 |
A |
G |
9: 37,562,278 (GRCm39) |
I300T |
probably damaging |
Het |
| Ubxn1 |
A |
G |
19: 8,851,576 (GRCm39) |
Q203R |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,381 (GRCm39) |
D180G |
possibly damaging |
Het |
| Usp14 |
A |
G |
18: 9,996,234 (GRCm39) |
F449L |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,321,458 (GRCm39) |
L552P |
unknown |
Het |
| Zscan10 |
A |
G |
17: 23,826,241 (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 |
|
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 |
|
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'- CAGTTCTAGGGTCCGGAAATCC -3'
(R):5'- CTACCATTTGATCCGATGTCTCAG -3'
Sequencing Primer
(F):5'- GTCCGGAAATCCAGTGTCTCAC -3'
(R):5'- TCAGCCACCTGAGCTGTACTG -3'
|
| Posted On |
2017-10-20 |
Incidental Mutation