Incidental Mutation 'R7207:Tnni3k'
| ID |
560684 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7207 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
154491928-154761044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 154580782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 621
(T621I)
|
| 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: T621I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070561
Gene: ENSMUSG00000040086
AA Change: T621I
| 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 damaging
Transcript: ENSMUST00000143410
AA Change: T621I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122478
Gene: ENSMUSG00000040086
AA Change: T621I
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,527,734 (GRCm39) |
Y1019H |
probably benign |
Het |
| Adam11 |
C |
A |
11: 102,662,883 (GRCm39) |
A212D |
probably benign |
Het |
| Adamts13 |
C |
A |
2: 26,868,707 (GRCm39) |
H230Q |
probably damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,457,874 (GRCm39) |
M1I |
probably null |
Het |
| Agap1 |
A |
T |
1: 89,770,821 (GRCm39) |
H657L |
possibly damaging |
Het |
| Ano3 |
T |
C |
2: 110,611,768 (GRCm39) |
D238G |
probably damaging |
Het |
| Atp8b5 |
A |
T |
4: 43,357,018 (GRCm39) |
I589F |
probably damaging |
Het |
| Bmp1 |
C |
T |
14: 70,717,000 (GRCm39) |
A859T |
possibly damaging |
Het |
| Cdh20 |
C |
A |
1: 104,921,702 (GRCm39) |
D666E |
probably damaging |
Het |
| Cep135 |
T |
G |
5: 76,780,090 (GRCm39) |
D807E |
probably benign |
Het |
| Cldn13 |
G |
A |
5: 134,943,766 (GRCm39) |
H140Y |
probably benign |
Het |
| Cnksr1 |
G |
T |
4: 133,962,434 (GRCm39) |
Q155K |
possibly damaging |
Het |
| Col1a1 |
G |
A |
11: 94,829,352 (GRCm39) |
R121Q |
unknown |
Het |
| Coro6 |
G |
A |
11: 77,358,089 (GRCm39) |
A225T |
possibly damaging |
Het |
| Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
| Dhrs7b |
C |
A |
11: 60,746,623 (GRCm39) |
Y237* |
probably null |
Het |
| Dnah3 |
A |
G |
7: 119,570,312 (GRCm39) |
F2303L |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,734,516 (GRCm39) |
D831E |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,202,418 (GRCm39) |
S575P |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 77,992,170 (GRCm39) |
L289P |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,714,387 (GRCm39) |
N162S |
probably damaging |
Het |
| Fbf1 |
A |
T |
11: 116,040,300 (GRCm39) |
Y602N |
probably benign |
Het |
| Fgd4 |
A |
T |
16: 16,302,420 (GRCm39) |
M45K |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,222,438 (GRCm39) |
V2048I |
probably benign |
Het |
| Gulp1 |
T |
C |
1: 44,805,292 (GRCm39) |
V127A |
possibly damaging |
Het |
| H2-DMb1 |
T |
A |
17: 34,376,490 (GRCm39) |
I203N |
probably damaging |
Het |
| Harbi1 |
T |
C |
2: 91,542,790 (GRCm39) |
S84P |
probably damaging |
Het |
| Hrh2 |
T |
C |
13: 54,368,266 (GRCm39) |
S81P |
possibly damaging |
Het |
| Iars1 |
T |
C |
13: 49,841,791 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
T |
C |
14: 23,359,083 (GRCm39) |
*1087W |
probably null |
Het |
| Lama5 |
T |
A |
2: 179,848,877 (GRCm39) |
N241I |
probably damaging |
Het |
| Lig4 |
T |
A |
8: 10,022,101 (GRCm39) |
K560* |
probably null |
Het |
| Lpin3 |
G |
T |
2: 160,735,923 (GRCm39) |
E68* |
probably null |
Het |
| Mrtfb |
A |
T |
16: 13,144,300 (GRCm39) |
I7L |
probably benign |
Het |
| Msrb3 |
A |
T |
10: 120,627,305 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
G |
7: 141,416,602 (GRCm39) |
T3183A |
probably benign |
Het |
| Mx1 |
T |
A |
16: 97,253,398 (GRCm39) |
D342V |
probably benign |
Het |
| Nrap |
G |
T |
19: 56,333,953 (GRCm39) |
T1003K |
probably damaging |
Het |
| Or8u10 |
A |
G |
2: 85,915,159 (GRCm39) |
S321P |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,326,327 (GRCm39) |
P87L |
probably damaging |
Het |
| Pms2 |
C |
T |
5: 143,850,452 (GRCm39) |
T89I |
probably damaging |
Het |
| Ppp1r12c |
C |
A |
7: 4,492,867 (GRCm39) |
R203L |
probably damaging |
Het |
| Pramel31 |
A |
G |
4: 144,088,473 (GRCm39) |
T90A |
probably benign |
Het |
| Rab44 |
C |
T |
17: 29,357,013 (GRCm39) |
Q48* |
probably null |
Het |
| Rgs14 |
T |
C |
13: 55,531,047 (GRCm39) |
V417A |
probably benign |
Het |
| Sgms1 |
T |
A |
19: 32,120,147 (GRCm39) |
K253M |
probably null |
Het |
| Sidt2 |
T |
C |
9: 45,856,449 (GRCm39) |
Y492C |
probably damaging |
Het |
| Slco1a5 |
G |
T |
6: 142,194,475 (GRCm39) |
Y389* |
probably null |
Het |
| Slfn14 |
G |
A |
11: 83,170,214 (GRCm39) |
Q477* |
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,438,934 (GRCm39) |
K142R |
probably damaging |
Het |
| Sphk1 |
A |
T |
11: 116,426,590 (GRCm39) |
D182V |
probably damaging |
Het |
| Srsf9 |
C |
G |
5: 115,465,481 (GRCm39) |
Y38* |
probably null |
Het |
| Stk40 |
A |
C |
4: 126,019,547 (GRCm39) |
E107A |
probably damaging |
Het |
| Syngr4 |
T |
C |
7: 45,538,101 (GRCm39) |
Y89C |
possibly damaging |
Het |
| Tead1 |
G |
A |
7: 112,441,287 (GRCm39) |
R109H |
possibly damaging |
Het |
| Thra |
A |
G |
11: 98,651,802 (GRCm39) |
Q108R |
probably damaging |
Het |
| Trim3 |
A |
C |
7: 105,262,583 (GRCm39) |
V525G |
possibly damaging |
Het |
| Usp49 |
T |
C |
17: 47,989,802 (GRCm39) |
V529A |
probably benign |
Het |
| Vill |
A |
T |
9: 118,900,281 (GRCm39) |
Q849L |
possibly damaging |
Het |
| Vps36 |
T |
A |
8: 22,701,623 (GRCm39) |
S237T |
probably benign |
Het |
| Zar1l |
A |
T |
5: 150,430,558 (GRCm39) |
C284* |
probably null |
Het |
| Zfp948 |
T |
C |
17: 21,808,602 (GRCm39) |
V598A |
possibly damaging |
Het |
| Zfp952 |
T |
C |
17: 33,222,489 (GRCm39) |
Y323H |
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 |
|
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 |
|
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'- ACATTTTCTAAGTAGAGACCCCTC -3'
(R):5'- ACTTTGAAAGCCTGCCATATGC -3'
Sequencing Primer
(F):5'- TTCTAAGTAGAGACCCCTCAAATAAC -3'
(R):5'- GATCTTGGAGCAAAGCCT -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation