Incidental Mutation 'R7843:Tnni3k'
ID |
606430 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnni3k
|
Ensembl Gene |
ENSMUSG00000040086 |
Gene Name |
TNNI3 interacting kinase |
Synonyms |
Cark, D830019J24Rik |
MMRRC Submission |
045897-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.279)
|
Stock # |
R7843 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
154491928-154761044 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 154744161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 64
(T64S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070561
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064076]
[ENSMUST00000143410]
|
AlphaFold |
Q5GIG6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064076
AA Change: T64S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000070561 Gene: ENSMUSG00000040086 AA Change: T64S
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: T64S
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000122478 Gene: ENSMUSG00000040086 AA Change: T64S
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
T |
C |
17: 36,270,135 (GRCm39) |
D641G |
possibly damaging |
Het |
Adam1b |
A |
T |
5: 121,639,500 (GRCm39) |
I515N |
probably damaging |
Het |
Adamtsl5 |
A |
G |
10: 80,178,757 (GRCm39) |
V207A |
probably damaging |
Het |
Ampd3 |
A |
G |
7: 110,390,395 (GRCm39) |
I143V |
probably benign |
Het |
Ank3 |
A |
T |
10: 69,822,788 (GRCm39) |
T486S |
probably benign |
Het |
Bcl11a |
A |
G |
11: 24,114,831 (GRCm39) |
I725V |
probably benign |
Het |
Blmh |
A |
G |
11: 76,837,139 (GRCm39) |
N29D |
probably damaging |
Het |
C6 |
T |
A |
15: 4,837,886 (GRCm39) |
V832D |
|
Het |
Ccdc191 |
T |
A |
16: 43,779,699 (GRCm39) |
L777M |
probably damaging |
Het |
Ccdc74a |
C |
G |
16: 17,464,613 (GRCm39) |
H45Q |
|
Het |
Cenpe |
T |
A |
3: 134,938,720 (GRCm39) |
Y517* |
probably null |
Het |
Cep290 |
G |
T |
10: 100,352,050 (GRCm39) |
R752L |
possibly damaging |
Het |
Cers5 |
A |
T |
15: 99,670,212 (GRCm39) |
W17R |
unknown |
Het |
Chpf |
T |
C |
1: 75,454,931 (GRCm39) |
|
probably benign |
Het |
Chst5 |
C |
A |
8: 112,617,204 (GRCm39) |
A139S |
probably benign |
Het |
Cpn1 |
T |
A |
19: 43,974,597 (GRCm39) |
D44V |
probably benign |
Het |
Cstf1 |
T |
C |
2: 172,219,920 (GRCm39) |
Y344H |
probably damaging |
Het |
D7Ertd443e |
A |
C |
7: 133,950,824 (GRCm39) |
M283R |
possibly damaging |
Het |
Dclk1 |
T |
A |
3: 55,163,298 (GRCm39) |
V130D |
probably damaging |
Het |
Dscam |
C |
T |
16: 96,626,830 (GRCm39) |
V360M |
probably damaging |
Het |
Dvl2 |
A |
G |
11: 69,899,612 (GRCm39) |
N518S |
probably benign |
Het |
Eif2ak2 |
T |
A |
17: 79,176,203 (GRCm39) |
K231N |
probably benign |
Het |
Elovl4 |
T |
C |
9: 83,670,324 (GRCm39) |
R123G |
probably damaging |
Het |
Ern2 |
A |
G |
7: 121,772,931 (GRCm39) |
V562A |
probably damaging |
Het |
F13a1 |
A |
T |
13: 37,209,745 (GRCm39) |
N73K |
probably benign |
Het |
Gcc2 |
C |
A |
10: 58,103,843 (GRCm39) |
Q90K |
possibly damaging |
Het |
Gnpda1 |
A |
T |
18: 38,461,952 (GRCm39) |
S282T |
probably benign |
Het |
Gpatch1 |
G |
T |
7: 34,980,879 (GRCm39) |
H880Q |
unknown |
Het |
Haus6 |
T |
C |
4: 86,504,578 (GRCm39) |
D471G |
possibly damaging |
Het |
Hcfc1r1 |
G |
T |
17: 23,893,630 (GRCm39) |
E70* |
probably null |
Het |
Ighv1-54 |
A |
G |
12: 115,157,483 (GRCm39) |
W55R |
probably damaging |
Het |
Jam3 |
T |
C |
9: 27,017,712 (GRCm39) |
|
probably null |
Het |
Klhdc7a |
A |
T |
4: 139,694,155 (GRCm39) |
V264E |
possibly damaging |
Het |
Lrrc4c |
A |
T |
2: 97,460,558 (GRCm39) |
T395S |
probably benign |
Het |
Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
Mast2 |
G |
T |
4: 116,210,208 (GRCm39) |
T186K |
probably damaging |
Het |
Meig1 |
T |
A |
2: 3,410,248 (GRCm39) |
K84M |
probably damaging |
Het |
Mep1b |
G |
T |
18: 21,228,110 (GRCm39) |
S571I |
probably damaging |
Het |
Muc2 |
T |
G |
7: 141,281,662 (GRCm39) |
V507G |
probably benign |
Het |
Nkx2-3 |
C |
A |
19: 43,603,321 (GRCm39) |
T309N |
probably benign |
Het |
Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
Or1ad1 |
A |
T |
11: 50,875,845 (GRCm39) |
T106S |
probably benign |
Het |
Or5b109 |
A |
T |
19: 13,211,901 (GRCm39) |
N96Y |
possibly damaging |
Het |
Or8b1c |
T |
C |
9: 38,384,243 (GRCm39) |
S67P |
probably damaging |
Het |
Pla2r1 |
T |
G |
2: 60,277,819 (GRCm39) |
T835P |
possibly damaging |
Het |
Ppil6 |
C |
T |
10: 41,377,862 (GRCm39) |
T191I |
probably benign |
Het |
Rps6ka5 |
T |
C |
12: 100,519,408 (GRCm39) |
D735G |
possibly damaging |
Het |
Setx |
T |
A |
2: 29,063,581 (GRCm39) |
N2292K |
probably damaging |
Het |
Slc1a6 |
A |
T |
10: 78,632,094 (GRCm39) |
I307F |
probably damaging |
Het |
Slc5a3 |
T |
A |
16: 91,875,907 (GRCm39) |
W655R |
probably benign |
Het |
Slc9a1 |
T |
C |
4: 133,097,753 (GRCm39) |
|
probably benign |
Het |
Sptbn1 |
A |
G |
11: 30,104,320 (GRCm39) |
V128A |
probably damaging |
Het |
Tenm3 |
T |
A |
8: 48,682,146 (GRCm39) |
K2495* |
probably null |
Het |
Top1 |
T |
C |
2: 160,556,176 (GRCm39) |
V545A |
possibly damaging |
Het |
Trabd |
A |
G |
15: 88,966,157 (GRCm39) |
D38G |
possibly damaging |
Het |
Tsbp1 |
C |
T |
17: 34,668,798 (GRCm39) |
T176I |
possibly damaging |
Het |
Umad1 |
G |
A |
6: 8,401,140 (GRCm39) |
D70N |
unknown |
Het |
Usp36 |
T |
C |
11: 118,176,791 (GRCm39) |
E9G |
probably damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,316,026 (GRCm39) |
S598P |
probably damaging |
Het |
Vmn2r60 |
A |
T |
7: 41,844,511 (GRCm39) |
T625S |
probably benign |
Het |
Vmn2r72 |
G |
A |
7: 85,398,838 (GRCm39) |
T505I |
probably benign |
Het |
Vwce |
T |
A |
19: 10,641,647 (GRCm39) |
I791K |
probably benign |
Het |
Wdr64 |
C |
A |
1: 175,639,668 (GRCm39) |
H1046N |
probably benign |
Het |
Zdhhc4 |
A |
T |
5: 143,306,031 (GRCm39) |
D232E |
probably damaging |
Het |
Zfp984 |
A |
T |
4: 147,842,165 (GRCm39) |
F51I |
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 |
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 |
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 |
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'- CCAAGCTAACTGAGTTACTTGGTTTAG -3'
(R):5'- ATGCTTCTTCCAGGAGCAAAG -3'
Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- CTTCTTCCAGGAGCAAAGATACATAG -3'
|
Posted On |
2019-12-20 |