Incidental Mutation 'R4119:Tnik'
| ID | 315217 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Tnik
|
|---|
| Ensembl Gene |
ENSMUSG00000027692 |
|---|
| Gene Name | TRAF2 and NCK interacting kinase |
|---|
| Synonyms | C630040K21Rik, 1500031A17Rik, 4831440I19Rik, C530008O15Rik |
|---|
| MMRRC Submission |
040992-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Non essential (E-score: 0.000)
|
|---|
| Stock # | R4119 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 3 |
|---|
| Chromosomal Location | 28263214-28675858 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to C
at 28666175 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Phenylalanine to Leucine
at position 1287
(F1287L)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124011
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159236]
[ENSMUST00000159308]
[ENSMUST00000159680]
[ENSMUST00000160307]
[ENSMUST00000160518]
[ENSMUST00000160934]
[ENSMUST00000161964]
[ENSMUST00000162485]
[ENSMUST00000162777]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159236
AA Change: F1279L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
AA Change: F1279L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
25 |
289 |
1.23e-96 |
SMART |
|
low complexity region
|
317 |
340 |
N/A |
INTRINSIC |
|
coiled coil region
|
360 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
691 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
793 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
951 |
958 |
N/A |
INTRINSIC |
|
CNH
|
1005 |
1303 |
1.92e-117 |
SMART |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159308
AA Change: F1232L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
AA Change: F1232L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
25 |
289 |
1.23e-96 |
SMART |
|
low complexity region
|
317 |
340 |
N/A |
INTRINSIC |
|
coiled coil region
|
360 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
746 |
765 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
911 |
N/A |
INTRINSIC |
|
CNH
|
958 |
1256 |
1.92e-117 |
SMART |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159680
AA Change: F1308L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
AA Change: F1308L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
25 |
289 |
1.23e-96 |
SMART |
|
low complexity region
|
317 |
340 |
N/A |
INTRINSIC |
|
coiled coil region
|
360 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
841 |
N/A |
INTRINSIC |
|
low complexity region
|
980 |
987 |
N/A |
INTRINSIC |
|
CNH
|
1034 |
1332 |
1.92e-117 |
SMART |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159733
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160307
AA Change: F1316L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
AA Change: F1316L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
25 |
289 |
1.23e-96 |
SMART |
|
low complexity region
|
317 |
340 |
N/A |
INTRINSIC |
|
coiled coil region
|
360 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
830 |
849 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
995 |
N/A |
INTRINSIC |
|
CNH
|
1042 |
1340 |
1.92e-117 |
SMART |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160518
AA Change: F1287L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
AA Change: F1287L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
25 |
289 |
5.9e-99 |
SMART |
|
low complexity region
|
317 |
340 |
N/A |
INTRINSIC |
|
coiled coil region
|
360 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
691 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
959 |
966 |
N/A |
INTRINSIC |
|
CNH
|
1013 |
1311 |
9.3e-120 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160934
|
|---|
| SMART Domains |
Protein: ENSMUSP00000123859
Gene: ENSMUSG00000027692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
25 |
212 |
2.2e-37 |
PFAM |
|
Pfam:Pkinase
|
25 |
219 |
5.9e-52 |
PFAM |
|
|---|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161964
AA Change: F1224L
|
|---|
| SMART Domains |
Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
AA Change: F1224L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
25 |
289 |
1.23e-96 |
SMART |
|
low complexity region
|
317 |
340 |
N/A |
INTRINSIC |
|
coiled coil region
|
360 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
903 |
N/A |
INTRINSIC |
|
CNH
|
950 |
1248 |
1.92e-117 |
SMART |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162037
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162485
AA Change: F1261L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
AA Change: F1261L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
25 |
289 |
1.23e-96 |
SMART |
|
low complexity region
|
317 |
340 |
N/A |
INTRINSIC |
|
coiled coil region
|
360 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
700 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
794 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
940 |
N/A |
INTRINSIC |
|
CNH
|
987 |
1285 |
1.92e-117 |
SMART |
|
|---|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162777
AA Change: F1253L
|
|---|
| SMART Domains |
Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
AA Change: F1253L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
25 |
289 |
1.23e-96 |
SMART |
|
low complexity region
|
317 |
340 |
N/A |
INTRINSIC |
|
coiled coil region
|
360 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
700 |
N/A |
INTRINSIC |
|
low complexity region
|
767 |
786 |
N/A |
INTRINSIC |
|
low complexity region
|
925 |
932 |
N/A |
INTRINSIC |
|
CNH
|
979 |
1277 |
1.92e-117 |
SMART |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192205
|
|---|
| Meta Mutation Damage Score |
0.8022
|
|---|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
|---|
| Validation Efficiency |
98% (46/47) |
|---|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Germinal center kinases (GCKs), such as TNIK, are characterized by an N-terminal kinase domain and a C-terminal GCK domain that serves a regulatory function (Fu et al., 1999 [PubMed 10521462]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired postsynaptic signaling and cognitive function. [provided by MGI curators]
|
|---|
| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
G |
6: 124,356,904 |
L39P |
probably damaging |
Het |
| Abcc1 |
A |
G |
16: 14,394,013 |
M138V |
probably benign |
Het |
| Abl1 |
T |
A |
2: 31,801,727 |
I1067N |
probably damaging |
Het |
| Adam6a |
C |
T |
12: 113,544,574 |
T189I |
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,714,484 |
|
probably null |
Het |
| Aplnr |
T |
C |
2: 85,136,966 |
Y112H |
possibly damaging |
Het |
| Arhgap17 |
A |
G |
7: 123,306,994 |
F313S |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 4,995,794 |
|
probably benign |
Het |
| Bcas1 |
G |
C |
2: 170,378,815 |
P394A |
probably benign |
Het |
| Ccdc116 |
A |
G |
16: 17,142,187 |
S213P |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 122,863,423 |
V365A |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,653,045 |
I2346T |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,785,658 |
|
probably benign |
Het |
| Ezh2 |
A |
C |
6: 47,544,548 |
N390K |
probably benign |
Het |
| Fbxo7 |
C |
A |
10: 86,021,895 |
|
probably benign |
Het |
| Fibin |
A |
G |
2: 110,362,690 |
Y36H |
probably damaging |
Het |
| Gm597 |
A |
T |
1: 28,777,973 |
V326D |
probably damaging |
Het |
| Gpr37 |
C |
T |
6: 25,688,426 |
R224H |
possibly damaging |
Het |
| Hars2 |
A |
T |
18: 36,790,488 |
N363I |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,805,648 |
R319Q |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,394,355 |
D1140N |
probably benign |
Het |
| Lrig2 |
A |
G |
3: 104,467,195 |
V190A |
probably benign |
Het |
| Ltk |
T |
A |
2: 119,757,948 |
|
probably benign |
Het |
| Morc2a |
C |
A |
11: 3,683,868 |
T660N |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,354,011 |
|
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,873,492 |
S1311P |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,291,870 |
I2213L |
probably damaging |
Het |
| Olfr1122 |
T |
A |
2: 87,387,843 |
M46K |
possibly damaging |
Het |
| Olfr1155 |
A |
G |
2: 87,943,443 |
Y62H |
probably damaging |
Het |
| P2ry12 |
T |
C |
3: 59,217,841 |
T138A |
probably benign |
Het |
| Pirb |
T |
C |
7: 3,717,575 |
D308G |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 30,083,037 |
|
probably benign |
Het |
| Ripor1 |
T |
A |
8: 105,618,857 |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,779,267 |
T942A |
probably benign |
Het |
| Sptbn5 |
T |
A |
2: 120,064,529 |
D798V |
possibly damaging |
Het |
| Synpo2 |
T |
A |
3: 123,117,150 |
D282V |
probably damaging |
Het |
| Tshz1 |
T |
G |
18: 84,014,189 |
K698T |
probably benign |
Het |
| Ttc23l |
A |
C |
15: 10,539,920 |
V159G |
probably damaging |
Het |
| Urb2 |
T |
A |
8: 124,047,240 |
D1503E |
probably benign |
Het |
| Usp29 |
T |
A |
7: 6,962,806 |
N549K |
probably benign |
Het |
| Vmn2r39 |
G |
A |
7: 9,023,674 |
H443Y |
probably benign |
Het |
| Zfp24 |
A |
G |
18: 24,014,569 |
Y229H |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 32,978,215 |
Y421* |
probably null |
Het |
| Zkscan3 |
T |
C |
13: 21,393,949 |
E256G |
possibly damaging |
Het |
|
|---|
| Other mutations in Tnik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Tnik
|
APN |
3 |
28654218 |
missense |
probably damaging |
1.00 |
|
IGL00726:Tnik
|
APN |
3 |
28532898 |
missense |
probably damaging |
1.00 |
|
IGL01022:Tnik
|
APN |
3 |
28625228 |
splice site |
probably null |
|
|
IGL01145:Tnik
|
APN |
3 |
28604167 |
intron |
probably benign |
|
|
IGL01664:Tnik
|
APN |
3 |
28638479 |
missense |
probably damaging |
1.00 |
|
IGL01843:Tnik
|
APN |
3 |
28570858 |
splice site |
probably null |
|
|
IGL02378:Tnik
|
APN |
3 |
28638459 |
nonsense |
probably null |
|
|
IGL02448:Tnik
|
APN |
3 |
28621077 |
missense |
probably null |
0.01 |
|
IGL02756:Tnik
|
APN |
3 |
28542030 |
missense |
probably damaging |
1.00 |
|
IGL03332:Tnik
|
APN |
3 |
28666155 |
missense |
probably damaging |
1.00 |
|
delightful
|
UTSW |
3 |
28604185 |
missense |
probably damaging |
1.00 |
|
Hottie
|
UTSW |
3 |
28263643 |
start codon destroyed |
probably null |
0.93 |
|
Knockout
|
UTSW |
3 |
28661778 |
missense |
possibly damaging |
0.91 |
|
Looker
|
UTSW |
3 |
28661704 |
nonsense |
probably null |
|
|
Lovely
|
UTSW |
3 |
28611970 |
critical splice donor site |
probably null |
|
|
Usher
|
UTSW |
3 |
28564097 |
missense |
possibly damaging |
0.61 |
|
R0135:Tnik
|
UTSW |
3 |
28607245 |
missense |
possibly damaging |
0.67 |
|
R0418:Tnik
|
UTSW |
3 |
28570880 |
nonsense |
probably null |
|
|
R0540:Tnik
|
UTSW |
3 |
28650159 |
missense |
probably damaging |
1.00 |
|
R0549:Tnik
|
UTSW |
3 |
28570920 |
missense |
possibly damaging |
0.87 |
|
R0556:Tnik
|
UTSW |
3 |
28625218 |
missense |
possibly damaging |
0.95 |
|
R0586:Tnik
|
UTSW |
3 |
28577361 |
splice site |
probably benign |
|
|
R0607:Tnik
|
UTSW |
3 |
28650159 |
missense |
probably damaging |
1.00 |
|
R0842:Tnik
|
UTSW |
3 |
28594086 |
missense |
possibly damaging |
0.72 |
|
R1068:Tnik
|
UTSW |
3 |
28532975 |
missense |
probably damaging |
1.00 |
|
R1171:Tnik
|
UTSW |
3 |
28532940 |
missense |
probably damaging |
1.00 |
|
R1597:Tnik
|
UTSW |
3 |
28604269 |
missense |
probably damaging |
1.00 |
|
R1638:Tnik
|
UTSW |
3 |
28665740 |
missense |
probably damaging |
0.99 |
|
R1652:Tnik
|
UTSW |
3 |
28604293 |
missense |
probably benign |
0.22 |
|
R1996:Tnik
|
UTSW |
3 |
28665680 |
missense |
probably damaging |
1.00 |
|
R2333:Tnik
|
UTSW |
3 |
28532996 |
missense |
probably damaging |
1.00 |
|
R2426:Tnik
|
UTSW |
3 |
28646681 |
missense |
probably damaging |
1.00 |
|
R2509:Tnik
|
UTSW |
3 |
28667915 |
missense |
probably damaging |
1.00 |
|
R3774:Tnik
|
UTSW |
3 |
28638419 |
missense |
probably damaging |
0.98 |
|
R3775:Tnik
|
UTSW |
3 |
28638419 |
missense |
probably damaging |
0.98 |
|
R4007:Tnik
|
UTSW |
3 |
28604281 |
missense |
probably damaging |
1.00 |
|
R4209:Tnik
|
UTSW |
3 |
28359065 |
splice site |
probably benign |
|
|
R4441:Tnik
|
UTSW |
3 |
28564097 |
missense |
possibly damaging |
0.61 |
|
R4611:Tnik
|
UTSW |
3 |
28542100 |
critical splice donor site |
probably null |
|
|
R4714:Tnik
|
UTSW |
3 |
28594077 |
missense |
possibly damaging |
0.53 |
|
R4772:Tnik
|
UTSW |
3 |
28607210 |
missense |
probably benign |
0.09 |
|
R4829:Tnik
|
UTSW |
3 |
28539541 |
intron |
probably benign |
|
|
R4839:Tnik
|
UTSW |
3 |
28596075 |
missense |
possibly damaging |
0.86 |
|
R4898:Tnik
|
UTSW |
3 |
28650086 |
missense |
probably damaging |
1.00 |
|
R5029:Tnik
|
UTSW |
3 |
28665844 |
splice site |
probably null |
|
|
R5278:Tnik
|
UTSW |
3 |
28650060 |
missense |
probably damaging |
1.00 |
|
R5307:Tnik
|
UTSW |
3 |
28541972 |
missense |
probably damaging |
1.00 |
|
R5330:Tnik
|
UTSW |
3 |
28542018 |
missense |
probably damaging |
1.00 |
|
R5375:Tnik
|
UTSW |
3 |
28594092 |
missense |
probably benign |
0.02 |
|
R5459:Tnik
|
UTSW |
3 |
28661741 |
missense |
probably damaging |
1.00 |
|
R5708:Tnik
|
UTSW |
3 |
28611971 |
critical splice donor site |
probably null |
|
|
R5749:Tnik
|
UTSW |
3 |
28594092 |
missense |
probably benign |
0.02 |
|
R5751:Tnik
|
UTSW |
3 |
28594092 |
missense |
probably benign |
0.02 |
|
R5780:Tnik
|
UTSW |
3 |
28594092 |
missense |
probably benign |
0.02 |
|
R5837:Tnik
|
UTSW |
3 |
28668053 |
unclassified |
probably benign |
|
|
R5969:Tnik
|
UTSW |
3 |
28620948 |
missense |
probably damaging |
1.00 |
|
R6244:Tnik
|
UTSW |
3 |
28650179 |
missense |
probably damaging |
1.00 |
|
R6273:Tnik
|
UTSW |
3 |
28577500 |
missense |
possibly damaging |
0.94 |
|
R6457:Tnik
|
UTSW |
3 |
28539448 |
missense |
probably damaging |
1.00 |
|
R6464:Tnik
|
UTSW |
3 |
28611970 |
critical splice donor site |
probably null |
|
|
R6473:Tnik
|
UTSW |
3 |
28263643 |
start codon destroyed |
probably null |
0.93 |
|
R6737:Tnik
|
UTSW |
3 |
28596086 |
missense |
possibly damaging |
0.72 |
|
R7049:Tnik
|
UTSW |
3 |
28661704 |
nonsense |
probably null |
|
|
R7237:Tnik
|
UTSW |
3 |
28638419 |
missense |
probably damaging |
0.98 |
|
R7267:Tnik
|
UTSW |
3 |
28646627 |
missense |
probably damaging |
0.99 |
|
R7445:Tnik
|
UTSW |
3 |
28663909 |
splice site |
probably null |
|
|
R7499:Tnik
|
UTSW |
3 |
28630594 |
missense |
possibly damaging |
0.47 |
|
R7629:Tnik
|
UTSW |
3 |
28661728 |
missense |
probably damaging |
0.96 |
|
R7654:Tnik
|
UTSW |
3 |
28604185 |
missense |
probably damaging |
1.00 |
|
R7886:Tnik
|
UTSW |
3 |
28666139 |
missense |
probably damaging |
1.00 |
|
R8096:Tnik
|
UTSW |
3 |
28661778 |
missense |
possibly damaging |
0.91 |
|
R8210:Tnik
|
UTSW |
3 |
28604333 |
missense |
possibly damaging |
0.95 |
|
R8233:Tnik
|
UTSW |
3 |
28554937 |
missense |
unknown |
|
|
R8386:Tnik
|
UTSW |
3 |
28263674 |
missense |
unknown |
|
|
R8399:Tnik
|
UTSW |
3 |
28494010 |
missense |
unknown |
|
|
R8490:Tnik
|
UTSW |
3 |
28596172 |
missense |
probably damaging |
0.97 |
|
R8539:Tnik
|
UTSW |
3 |
28542003 |
missense |
probably damaging |
1.00 |
|
R8751:Tnik
|
UTSW |
3 |
28611908 |
missense |
probably damaging |
0.98 |
|
R8804:Tnik
|
UTSW |
3 |
28594053 |
missense |
unknown |
|
|
X0022:Tnik
|
UTSW |
3 |
28667951 |
missense |
probably damaging |
1.00 |
|
Z1176:Tnik
|
UTSW |
3 |
28604324 |
missense |
probably damaging |
1.00 |
|
Z1176:Tnik
|
UTSW |
3 |
28607328 |
missense |
probably damaging |
0.96 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- ACACTTGTAAGACTCTCTTTGTCTG -3'
(R):5'- ACCAAGTAATGCCACTTCATTGTC -3'
Sequencing Primer
(F):5'- TGTCTGTTTAATCTCAAGTCCTTTG -3'
(R):5'- GTAATGCCACTTCATTGTCATTGATC -3'
|
|---|
| Posted On | 2015-05-14 |
|---|
