Incidental Mutation 'R7445:Tnik'
| ID |
596146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnik
|
| Ensembl Gene |
ENSMUSG00000027692 |
| Gene Name |
TRAF2 and NCK interacting kinase |
| Synonyms |
C630040K21Rik, 1500031A17Rik, 4831440I19Rik, C530008O15Rik |
| MMRRC Submission |
045521-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7445 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
28263214-28675858 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 28663909 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159236]
[ENSMUST00000159236]
[ENSMUST00000159236]
[ENSMUST00000159308]
[ENSMUST00000159308]
[ENSMUST00000159308]
[ENSMUST00000159680]
[ENSMUST00000159680]
[ENSMUST00000159680]
[ENSMUST00000160307]
[ENSMUST00000160307]
[ENSMUST00000160307]
[ENSMUST00000160518]
[ENSMUST00000160518]
[ENSMUST00000160518]
[ENSMUST00000160934]
[ENSMUST00000161964]
[ENSMUST00000161964]
[ENSMUST00000161964]
[ENSMUST00000162485]
[ENSMUST00000162485]
[ENSMUST00000162485]
[ENSMUST00000162777]
[ENSMUST00000162777]
[ENSMUST00000162777]
|
| AlphaFold |
P83510 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000159236
|
| SMART Domains |
Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
| 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 null
Transcript: ENSMUST00000159236
|
| SMART Domains |
Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
| 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 null
Transcript: ENSMUST00000159236
|
| SMART Domains |
Protein: ENSMUSP00000124681
Gene: ENSMUSG00000027692
| 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 null
Transcript: ENSMUST00000159308
|
| SMART Domains |
Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
| 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 null
Transcript: ENSMUST00000159308
|
| SMART Domains |
Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
| 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 null
Transcript: ENSMUST00000159308
|
| SMART Domains |
Protein: ENSMUSP00000125466
Gene: ENSMUSG00000027692
| 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 null
Transcript: ENSMUST00000159680
|
| SMART Domains |
Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
| 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 |
probably null
Transcript: ENSMUST00000159680
|
| SMART Domains |
Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
| 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 |
probably null
Transcript: ENSMUST00000159680
|
| SMART Domains |
Protein: ENSMUSP00000124876
Gene: ENSMUSG00000027692
| 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 |
probably null
Transcript: ENSMUST00000160307
|
| SMART Domains |
Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
| 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 null
Transcript: ENSMUST00000160307
|
| SMART Domains |
Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
| 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 null
Transcript: ENSMUST00000160307
|
| SMART Domains |
Protein: ENSMUSP00000125081
Gene: ENSMUSG00000027692
| 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 null
Transcript: ENSMUST00000160518
|
| SMART Domains |
Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
| 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 null
Transcript: ENSMUST00000160518
|
| SMART Domains |
Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
| 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 null
Transcript: ENSMUST00000160518
|
| SMART Domains |
Protein: ENSMUSP00000124011
Gene: ENSMUSG00000027692
| 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 |
probably null
Transcript: ENSMUST00000161964
|
| SMART Domains |
Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
| 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 |
probably null
Transcript: ENSMUST00000161964
|
| SMART Domains |
Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
| 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 |
probably null
Transcript: ENSMUST00000161964
|
| SMART Domains |
Protein: ENSMUSP00000125411
Gene: ENSMUSG00000027692
| 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 |
probably null
Transcript: ENSMUST00000162485
|
| SMART Domains |
Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
| 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 |
probably null
Transcript: ENSMUST00000162485
|
| SMART Domains |
Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
| 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 |
probably null
Transcript: ENSMUST00000162485
|
| SMART Domains |
Protein: ENSMUSP00000124387
Gene: ENSMUSG00000027692
| 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 |
probably null
Transcript: ENSMUST00000162777
|
| SMART Domains |
Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
| 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 |
probably null
Transcript: ENSMUST00000162777
|
| SMART Domains |
Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
| 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 |
probably null
Transcript: ENSMUST00000162777
|
| SMART Domains |
Protein: ENSMUSP00000124726
Gene: ENSMUSG00000027692
| 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 |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (67/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 63,898,619 |
S233T |
probably damaging |
Het |
| 1700034E13Rik |
T |
A |
18: 52,660,481 |
C29S |
probably damaging |
Het |
| 1700061G19Rik |
G |
A |
17: 56,882,973 |
R333Q |
possibly damaging |
Het |
| 9130409I23Rik |
A |
G |
1: 181,055,012 |
N113S |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,992,124 |
T2208A |
|
Het |
| Ap4s1 |
T |
C |
12: 51,738,641 |
L132P |
probably damaging |
Het |
| Ascl4 |
C |
T |
10: 85,928,500 |
R4C |
probably benign |
Het |
| Brd7 |
A |
T |
8: 88,361,708 |
Y18N |
probably damaging |
Het |
| Cacna2d3 |
A |
G |
14: 29,058,618 |
S648P |
possibly damaging |
Het |
| Camta1 |
C |
T |
4: 151,144,291 |
E695K |
possibly damaging |
Het |
| Ccdc28b |
A |
G |
4: 129,622,607 |
F53L |
probably benign |
Het |
| Chaf1a |
A |
G |
17: 56,062,170 |
D467G |
possibly damaging |
Het |
| Cnnm1 |
G |
A |
19: 43,440,821 |
R126H |
possibly damaging |
Het |
| Cog5 |
T |
G |
12: 31,919,672 |
S730R |
possibly damaging |
Het |
| Col11a1 |
A |
T |
3: 114,193,929 |
E1374D |
unknown |
Het |
| Csmd1 |
A |
G |
8: 16,158,254 |
I1229T |
possibly damaging |
Het |
| Dnajc30 |
T |
C |
5: 135,064,378 |
L43P |
probably damaging |
Het |
| Eif3f |
C |
T |
7: 108,934,658 |
T76M |
unknown |
Het |
| Ermap |
G |
A |
4: 119,188,710 |
T42I |
unknown |
Het |
| Gpd1l |
C |
T |
9: 114,920,674 |
G25S |
probably damaging |
Het |
| Heatr1 |
G |
T |
13: 12,431,038 |
W1632L |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,596,167 |
D29G |
|
Het |
| Ipo8 |
T |
C |
6: 148,789,817 |
D685G |
probably benign |
Het |
| Klra10 |
T |
C |
6: 130,275,856 |
T152A |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,429,967 |
S82C |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,407,031 |
S87P |
possibly damaging |
Het |
| Mapkapk2 |
A |
G |
1: 131,097,519 |
S3P |
unknown |
Het |
| Mei4 |
A |
G |
9: 81,890,239 |
Y35C |
possibly damaging |
Het |
| Ms4a14 |
T |
G |
19: 11,302,972 |
K741Q |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,161,782 |
I582S |
probably benign |
Het |
| Ncapg2 |
A |
G |
12: 116,419,268 |
I240V |
possibly damaging |
Het |
| Ncbp1 |
T |
A |
4: 46,149,914 |
M145K |
probably damaging |
Het |
| Nmur2 |
A |
G |
11: 56,032,940 |
F263L |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 58,846,762 |
E164G |
probably benign |
Het |
| Olfr48 |
T |
A |
2: 89,844,272 |
T234S |
probably damaging |
Het |
| Olfr705 |
A |
G |
7: 106,873,342 |
L301S |
possibly damaging |
Het |
| Olfr785 |
A |
T |
10: 129,409,885 |
D173V |
probably benign |
Het |
| P3h2 |
T |
A |
16: 25,985,065 |
Y317F |
probably damaging |
Het |
| Pcmtd1 |
C |
T |
1: 7,120,420 |
R38C |
probably damaging |
Het |
| Pcyox1 |
T |
C |
6: 86,391,679 |
T286A |
possibly damaging |
Het |
| Pdxk |
T |
C |
10: 78,447,967 |
D131G |
probably benign |
Het |
| Ppl |
T |
C |
16: 5,089,068 |
D1121G |
probably damaging |
Het |
| Prkra |
T |
C |
2: 76,633,598 |
D240G |
probably benign |
Het |
| Ptgs1 |
C |
A |
2: 36,245,210 |
N395K |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,590,959 |
Y1572N |
probably damaging |
Het |
| Pyroxd1 |
A |
T |
6: 142,358,501 |
H326L |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,755,969 |
D778G |
probably benign |
Het |
| Rbm46 |
T |
A |
3: 82,864,210 |
E366V |
probably damaging |
Het |
| Rnd1 |
G |
T |
15: 98,670,669 |
H209Q |
probably benign |
Het |
| Rnf122 |
A |
T |
8: 31,118,500 |
D32V |
possibly damaging |
Het |
| Samd4b |
G |
A |
7: 28,406,456 |
P446S |
probably benign |
Het |
| Slco1a5 |
C |
A |
6: 142,259,008 |
A187S |
possibly damaging |
Het |
| Smarca4 |
G |
A |
9: 21,686,247 |
V1436M |
probably damaging |
Het |
| Smok2a |
G |
A |
17: 13,226,639 |
G368R |
possibly damaging |
Het |
| Smok3c |
T |
A |
5: 138,064,495 |
H81Q |
probably damaging |
Het |
| Soga3 |
T |
C |
10: 29,197,003 |
S764P |
possibly damaging |
Het |
| Stk16 |
T |
C |
1: 75,213,652 |
V245A |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,094,122 |
N1505K |
possibly damaging |
Het |
| Tigd4 |
G |
A |
3: 84,595,164 |
A463T |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,714,918 |
F112L |
probably benign |
Het |
| Tmem72 |
A |
G |
6: 116,698,330 |
I67T |
probably benign |
Het |
| Trav14-2 |
A |
G |
14: 53,641,058 |
Q66R |
probably damaging |
Het |
| Trpv6 |
T |
A |
6: 41,621,342 |
D677V |
probably damaging |
Het |
| Vgll4 |
C |
T |
6: 114,862,196 |
S278N |
unknown |
Het |
| Wdfy4 |
C |
T |
14: 33,070,618 |
W2157* |
probably null |
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 |
|
R4119:Tnik
|
UTSW |
3 |
28666175 |
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 |
|
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 |
|
|
R8966:Tnik
|
UTSW |
3 |
28532895 |
missense |
unknown |
|
|
R8998:Tnik
|
UTSW |
3 |
28665771 |
missense |
probably damaging |
1.00 |
|
R8999:Tnik
|
UTSW |
3 |
28665771 |
missense |
probably damaging |
1.00 |
|
R9016:Tnik
|
UTSW |
3 |
28638395 |
missense |
probably damaging |
1.00 |
|
R9154:Tnik
|
UTSW |
3 |
28650086 |
missense |
probably damaging |
0.99 |
|
R9284:Tnik
|
UTSW |
3 |
28539421 |
missense |
unknown |
|
|
R9290:Tnik
|
UTSW |
3 |
28620975 |
missense |
probably benign |
0.00 |
|
R9411:Tnik
|
UTSW |
3 |
28630605 |
missense |
probably damaging |
1.00 |
|
R9484:Tnik
|
UTSW |
3 |
28594944 |
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'- TGTCAAAACTGACAGCCGTAAG -3'
(R):5'- ATTCCTCAAACTTACATGGGATGG -3'
Sequencing Primer
(F):5'- CCGTAAGCTGTTTTTACTGTGAAAG -3'
(R):5'- GGGATGGTATATAGATATCGTAGGAG -3'
|
| Posted On |
2019-11-21 |
Incidental Mutation