Incidental Mutation 'IGL03404:Ttc23'
| ID |
421543 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttc23
|
| Ensembl Gene |
ENSMUSG00000030555 |
| Gene Name |
tetratricopeptide repeat domain 23 |
| Synonyms |
1600012K10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL03404
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
67295180-67378370 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 67328645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 195
(L195F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032774]
[ENSMUST00000107470]
[ENSMUST00000107471]
|
| AlphaFold |
Q8CHY7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032774
AA Change: L195F
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032774
Gene: ENSMUSG00000030555
AA Change: L195F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
45 |
78 |
5e-10 |
BLAST |
|
SCOP:d1a17__
|
50 |
214 |
6e-8 |
SMART |
|
Blast:TPR
|
87 |
121 |
3e-10 |
BLAST |
|
Blast:TPR
|
137 |
170 |
3e-8 |
BLAST |
|
Blast:TPR
|
186 |
219 |
1e-6 |
BLAST |
|
low complexity region
|
310 |
323 |
N/A |
INTRINSIC |
|
Blast:TPR
|
398 |
431 |
5e-8 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107470
AA Change: L195F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103094
Gene: ENSMUSG00000030555
AA Change: L195F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
45 |
78 |
4e-10 |
BLAST |
|
Blast:TPR
|
87 |
121 |
2e-10 |
BLAST |
|
Blast:TPR
|
137 |
170 |
3e-8 |
BLAST |
|
Pfam:TPR_12
|
185 |
257 |
5.9e-10 |
PFAM |
|
low complexity region
|
268 |
281 |
N/A |
INTRINSIC |
|
Blast:TPR
|
356 |
389 |
5e-8 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107471
AA Change: L195F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103095
Gene: ENSMUSG00000030555
AA Change: L195F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
45 |
78 |
4e-10 |
BLAST |
|
Blast:TPR
|
87 |
121 |
2e-10 |
BLAST |
|
Blast:TPR
|
137 |
170 |
3e-8 |
BLAST |
|
Pfam:TPR_12
|
185 |
257 |
5.9e-10 |
PFAM |
|
low complexity region
|
268 |
281 |
N/A |
INTRINSIC |
|
Blast:TPR
|
356 |
389 |
5e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137919
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153475
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208764
AA Change: L43F
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207774
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155024
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8 |
T |
G |
17: 32,531,250 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
A |
G |
10: 80,565,871 (GRCm39) |
S99P |
probably damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,616,268 (GRCm39) |
M304K |
probably benign |
Het |
| Arpc5l |
T |
C |
2: 38,903,895 (GRCm39) |
L128P |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,670,052 (GRCm39) |
I497F |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,538,200 (GRCm39) |
G616E |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,725,841 (GRCm39) |
E926G |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,876,440 (GRCm39) |
H2391L |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,249,633 (GRCm39) |
D148V |
probably damaging |
Het |
| Glg1 |
A |
T |
8: 111,886,534 (GRCm39) |
M1086K |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,798,864 (GRCm39) |
Y543F |
probably damaging |
Het |
| Gtf3a |
T |
C |
5: 146,887,449 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
T |
8: 111,296,409 (GRCm39) |
Y3646F |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,310,492 (GRCm39) |
D425G |
probably damaging |
Het |
| Lipo3 |
A |
C |
19: 33,560,440 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
A |
C |
17: 75,532,301 (GRCm39) |
K443T |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,069,310 (GRCm39) |
I497T |
probably damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,129,459 (GRCm39) |
D842G |
probably benign |
Het |
| Or10j3 |
T |
C |
1: 173,031,766 (GRCm39) |
V281A |
probably benign |
Het |
| Or52s6 |
A |
T |
7: 103,092,195 (GRCm39) |
V45E |
possibly damaging |
Het |
| Or6n1 |
A |
G |
1: 173,917,464 (GRCm39) |
N286S |
probably damaging |
Het |
| Or8k3b |
A |
G |
2: 86,520,372 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
A |
T |
17: 24,783,380 (GRCm39) |
I120L |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 138,020,739 (GRCm39) |
N401S |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,305,436 (GRCm39) |
H923R |
possibly damaging |
Het |
| Rrp8 |
T |
C |
7: 105,384,145 (GRCm39) |
K119R |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,440,407 (GRCm39) |
Y211* |
probably null |
Het |
| Sfxn5 |
G |
A |
6: 85,276,518 (GRCm39) |
|
probably benign |
Het |
| Sun5 |
T |
C |
2: 153,712,924 (GRCm39) |
|
probably benign |
Het |
| Tnks |
A |
T |
8: 35,407,858 (GRCm39) |
V290D |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,769,996 (GRCm39) |
P2740L |
probably benign |
Het |
| Tubb1 |
G |
T |
2: 174,299,241 (GRCm39) |
G308C |
probably damaging |
Het |
| Vmn1r217 |
A |
T |
13: 23,298,810 (GRCm39) |
F31I |
probably benign |
Het |
| Zp1 |
A |
T |
19: 10,891,825 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ttc23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02852:Ttc23
|
APN |
7 |
67,316,903 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03257:Ttc23
|
APN |
7 |
67,361,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03365:Ttc23
|
APN |
7 |
67,312,085 (GRCm39) |
utr 5 prime |
probably benign |
|
|
F5770:Ttc23
|
UTSW |
7 |
67,359,063 (GRCm39) |
splice site |
probably benign |
|
|
PIT4445001:Ttc23
|
UTSW |
7 |
67,316,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4791001:Ttc23
|
UTSW |
7 |
67,312,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0295:Ttc23
|
UTSW |
7 |
67,319,600 (GRCm39) |
unclassified |
probably benign |
|
|
R0316:Ttc23
|
UTSW |
7 |
67,328,821 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0336:Ttc23
|
UTSW |
7 |
67,312,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1456:Ttc23
|
UTSW |
7 |
67,316,902 (GRCm39) |
unclassified |
probably benign |
|
|
R1543:Ttc23
|
UTSW |
7 |
67,328,743 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1662:Ttc23
|
UTSW |
7 |
67,375,069 (GRCm39) |
splice site |
probably null |
|
|
R1708:Ttc23
|
UTSW |
7 |
67,316,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1857:Ttc23
|
UTSW |
7 |
67,328,821 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2292:Ttc23
|
UTSW |
7 |
67,319,535 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4471:Ttc23
|
UTSW |
7 |
67,319,904 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6036:Ttc23
|
UTSW |
7 |
67,361,114 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6036:Ttc23
|
UTSW |
7 |
67,361,114 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6841:Ttc23
|
UTSW |
7 |
67,319,476 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7690:Ttc23
|
UTSW |
7 |
67,319,918 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8305:Ttc23
|
UTSW |
7 |
67,312,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8837:Ttc23
|
UTSW |
7 |
67,319,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Ttc23
|
UTSW |
7 |
67,342,761 (GRCm39) |
missense |
|
|
|
R9052:Ttc23
|
UTSW |
7 |
67,342,687 (GRCm39) |
nonsense |
probably null |
|
|
R9150:Ttc23
|
UTSW |
7 |
67,375,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF009:Ttc23
|
UTSW |
7 |
67,375,777 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
X0021:Ttc23
|
UTSW |
7 |
67,319,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation