Incidental Mutation 'R6882:Tnni3k'
| ID |
536714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnni3k
|
| Ensembl Gene |
ENSMUSG00000040086 |
| Gene Name |
TNNI3 interacting kinase |
| Synonyms |
Cark, D830019J24Rik |
| MMRRC Submission |
044977-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R6882 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
154491928-154761044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 154663357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 332
(I332F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064076]
[ENSMUST00000143410]
|
| AlphaFold |
Q5GIG6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064076
AA Change: I332F
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070561
Gene: ENSMUSG00000040086
AA Change: I332F
| 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: I332F
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122478
Gene: ENSMUSG00000040086
AA Change: I332F
| 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: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
100% (63/63) |
| 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 |
|---|
| Actr10 |
A |
G |
12: 71,003,125 (GRCm39) |
E238G |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,761,271 (GRCm39) |
C989S |
probably damaging |
Het |
| Ank2 |
T |
G |
3: 126,739,406 (GRCm39) |
|
probably benign |
Het |
| C2cd6 |
T |
C |
1: 59,105,318 (GRCm39) |
D320G |
probably damaging |
Het |
| Cacnb2 |
T |
A |
2: 14,829,110 (GRCm39) |
I15N |
probably benign |
Het |
| Cage1 |
T |
A |
13: 38,206,534 (GRCm39) |
Q437L |
probably damaging |
Het |
| Capn15 |
G |
T |
17: 26,179,153 (GRCm39) |
|
probably null |
Het |
| Cbll1 |
A |
G |
12: 31,537,484 (GRCm39) |
Y424H |
probably damaging |
Het |
| Ccdc166 |
T |
C |
15: 75,853,466 (GRCm39) |
H167R |
possibly damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,523,809 (GRCm39) |
|
probably benign |
Het |
| Cdkl4 |
T |
A |
17: 80,851,175 (GRCm39) |
T176S |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,447,054 (GRCm39) |
E2321G |
possibly damaging |
Het |
| Col6a5 |
G |
A |
9: 105,817,469 (GRCm39) |
Q281* |
probably null |
Het |
| Csmd2 |
A |
G |
4: 128,343,062 (GRCm39) |
T1485A |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 49,976,851 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
A |
G |
7: 119,570,407 (GRCm39) |
I2271T |
possibly damaging |
Het |
| Elavl2 |
A |
G |
4: 91,196,952 (GRCm39) |
I42T |
probably damaging |
Het |
| Epn3 |
C |
T |
11: 94,382,186 (GRCm39) |
A568T |
probably benign |
Het |
| Etv3 |
T |
C |
3: 87,436,577 (GRCm39) |
F111L |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,400,724 (GRCm39) |
E1041G |
probably damaging |
Het |
| Fosl2 |
T |
C |
5: 32,310,208 (GRCm39) |
V219A |
possibly damaging |
Het |
| Foxj2 |
T |
A |
6: 122,805,464 (GRCm39) |
|
probably null |
Het |
| Gm8947 |
G |
A |
1: 151,068,880 (GRCm39) |
A238T |
possibly damaging |
Het |
| Golgb1 |
C |
A |
16: 36,734,352 (GRCm39) |
Q1200K |
probably benign |
Het |
| Igkv4-55 |
A |
G |
6: 69,584,289 (GRCm39) |
Y108H |
probably damaging |
Het |
| Iglc1 |
G |
A |
16: 18,880,599 (GRCm39) |
|
probably benign |
Het |
| Ints13 |
G |
T |
6: 146,464,939 (GRCm39) |
R221S |
probably null |
Het |
| Ipo11 |
T |
C |
13: 107,037,190 (GRCm39) |
|
probably null |
Het |
| Kcnn2 |
A |
T |
18: 45,692,505 (GRCm39) |
H27L |
possibly damaging |
Het |
| Kcns3 |
C |
T |
12: 11,142,049 (GRCm39) |
V217M |
probably benign |
Het |
| Klra9 |
A |
T |
6: 130,155,985 (GRCm39) |
C257S |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lmbr1l |
A |
G |
15: 98,805,467 (GRCm39) |
F345L |
probably damaging |
Het |
| Lrrc18 |
A |
C |
14: 32,730,646 (GRCm39) |
I62L |
probably benign |
Het |
| Mr1 |
A |
G |
1: 155,008,199 (GRCm39) |
W259R |
possibly damaging |
Het |
| Myo15a |
G |
A |
11: 60,414,832 (GRCm39) |
R3325H |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,839,775 (GRCm39) |
D788G |
probably damaging |
Het |
| Or2y1c |
A |
T |
11: 49,361,290 (GRCm39) |
Y104F |
probably benign |
Het |
| Or5an10 |
C |
A |
19: 12,275,934 (GRCm39) |
Q187H |
probably damaging |
Het |
| Or5h24 |
A |
T |
16: 58,918,990 (GRCm39) |
C122S |
unknown |
Het |
| Or6d12 |
T |
C |
6: 116,493,395 (GRCm39) |
V219A |
probably benign |
Het |
| Pbld1 |
T |
C |
10: 62,897,241 (GRCm39) |
L11P |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,263,662 (GRCm39) |
E434G |
probably benign |
Het |
| Prg4 |
G |
A |
1: 150,329,246 (GRCm39) |
T174M |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,601,127 (GRCm39) |
|
probably null |
Het |
| Prkdc |
T |
A |
16: 15,626,020 (GRCm39) |
S3349T |
probably benign |
Het |
| Prpf38a |
C |
A |
4: 108,427,365 (GRCm39) |
E199D |
probably benign |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Rhbg |
T |
A |
3: 88,152,527 (GRCm39) |
H339L |
probably damaging |
Het |
| Rnf183 |
A |
G |
4: 62,346,261 (GRCm39) |
I179T |
probably benign |
Het |
| Sh3bp5l |
G |
T |
11: 58,222,525 (GRCm39) |
A7S |
probably benign |
Het |
| Slc12a3 |
T |
A |
8: 95,092,546 (GRCm39) |
I989N |
possibly damaging |
Het |
| Sycp3 |
C |
T |
10: 88,308,791 (GRCm39) |
R246* |
probably null |
Het |
| Tmprss11b |
T |
A |
5: 86,819,530 (GRCm39) |
|
probably null |
Het |
| Tmx4 |
T |
C |
2: 134,485,922 (GRCm39) |
T2A |
possibly damaging |
Het |
| Tnfsf10 |
T |
C |
3: 27,380,182 (GRCm39) |
L82S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,644,539 (GRCm39) |
T13072S |
probably benign |
Het |
| Vmn2r1 |
A |
T |
3: 63,997,529 (GRCm39) |
Y395F |
possibly damaging |
Het |
| Zbbx |
A |
G |
3: 74,979,019 (GRCm39) |
V476A |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,479,943 (GRCm39) |
C465R |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,843,016 (GRCm39) |
D224G |
probably damaging |
Het |
| Zfp407 |
G |
T |
18: 84,361,194 (GRCm39) |
|
probably null |
Het |
| Zfp52 |
T |
C |
17: 21,775,309 (GRCm39) |
M1T |
probably null |
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 |
|
|
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'- GTGTTCGGGGAAACTCAATTGAT -3'
(R):5'- GTCCTGGATTAATCAAGTTTGTATCA -3'
Sequencing Primer
(F):5'- ATCAGCCTCTAGGCTCAA -3'
(R):5'- GCATTTCCACTATGTCTTAGAAGGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation