Incidental Mutation 'R2292:Ttc23'
| ID |
245037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc23
|
| Ensembl Gene |
ENSMUSG00000030555 |
| Gene Name |
tetratricopeptide repeat domain 23 |
| Synonyms |
1600012K10Rik |
| MMRRC Submission |
040291-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R2292 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
67295180-67378370 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67319535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 132
(I132F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032774]
[ENSMUST00000107470]
[ENSMUST00000107471]
|
| AlphaFold |
Q8CHY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032774
AA Change: I132F
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000032774
Gene: ENSMUSG00000030555
AA Change: I132F
| 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 benign
Transcript: ENSMUST00000107470
AA Change: I132F
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103094
Gene: ENSMUSG00000030555
AA Change: I132F
| 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 benign
Transcript: ENSMUST00000107471
AA Change: I132F
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103095
Gene: ENSMUSG00000030555
AA Change: I132F
| 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: ENSMUST00000133710
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145348
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208764
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153475
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155024
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,562,483 (GRCm39) |
I370T |
probably benign |
Het |
| A2m |
A |
G |
6: 121,650,518 (GRCm39) |
T1209A |
possibly damaging |
Het |
| Als2 |
T |
C |
1: 59,226,544 (GRCm39) |
Q920R |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,760,743 (GRCm39) |
Y829N |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,297,476 (GRCm39) |
F530I |
probably damaging |
Het |
| Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
| Ascc2 |
T |
C |
11: 4,629,352 (GRCm39) |
|
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,496,632 (GRCm39) |
V2312I |
probably benign |
Het |
| Dctn6 |
T |
C |
8: 34,559,679 (GRCm39) |
T159A |
probably benign |
Het |
| Ddx55 |
G |
T |
5: 124,706,140 (GRCm39) |
A522S |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 72,998,092 (GRCm39) |
T4110I |
probably damaging |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Dym |
A |
G |
18: 75,332,283 (GRCm39) |
T504A |
possibly damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,690,579 (GRCm39) |
Y138H |
probably damaging |
Het |
| Fgd4 |
A |
T |
16: 16,253,864 (GRCm39) |
C568S |
possibly damaging |
Het |
| Fkbp4 |
A |
C |
6: 128,413,625 (GRCm39) |
V6G |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,127,984 (GRCm39) |
S2299C |
unknown |
Het |
| Gdf2 |
A |
T |
14: 33,667,145 (GRCm39) |
N289I |
possibly damaging |
Het |
| Gpr182 |
A |
G |
10: 127,586,051 (GRCm39) |
I300T |
possibly damaging |
Het |
| Iqcg |
A |
G |
16: 32,870,253 (GRCm39) |
V80A |
probably benign |
Het |
| Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
| Lyst |
T |
G |
13: 13,915,080 (GRCm39) |
F3258C |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,408,574 (GRCm39) |
E870G |
probably damaging |
Het |
| Mphosph10 |
G |
A |
7: 64,035,519 (GRCm39) |
P384L |
probably damaging |
Het |
| Ncoa4 |
T |
G |
14: 31,895,413 (GRCm39) |
L179R |
probably damaging |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,137,188 (GRCm39) |
|
noncoding transcript |
Het |
| Nwd2 |
A |
T |
5: 63,962,917 (GRCm39) |
M834L |
probably benign |
Het |
| Or10a49 |
A |
T |
7: 108,468,223 (GRCm39) |
M46K |
probably benign |
Het |
| Or2w6 |
A |
G |
13: 21,843,001 (GRCm39) |
M164T |
probably damaging |
Het |
| Pccb |
T |
C |
9: 100,876,685 (GRCm39) |
E266G |
probably benign |
Het |
| Pcdhb2 |
T |
A |
18: 37,430,297 (GRCm39) |
|
probably null |
Het |
| Pramel25 |
T |
C |
4: 143,520,446 (GRCm39) |
I66T |
probably benign |
Het |
| Prdm13 |
A |
C |
4: 21,683,914 (GRCm39) |
I119S |
unknown |
Het |
| Tchh |
A |
G |
3: 93,349,689 (GRCm39) |
Y18C |
probably damaging |
Het |
| Tmem192 |
T |
C |
8: 65,411,998 (GRCm39) |
V59A |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,974,916 (GRCm39) |
F92Y |
probably damaging |
Het |
| Trappc11 |
C |
T |
8: 47,958,771 (GRCm39) |
G40D |
probably damaging |
Het |
| Ttc9b |
A |
G |
7: 27,355,405 (GRCm39) |
D225G |
probably benign |
Het |
| Ubr3 |
G |
T |
2: 69,727,604 (GRCm39) |
|
probably benign |
Het |
| Vmn2r75 |
A |
C |
7: 85,798,144 (GRCm39) |
C556W |
probably damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,368,097 (GRCm39) |
V595A |
probably damaging |
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 |
|
|
IGL03404:Ttc23
|
APN |
7 |
67,328,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTACATGCCAGGCTTCCC -3'
(R):5'- GGTTCAGGAAAAGTCTTGCCTATTC -3'
Sequencing Primer
(F):5'- GCTTCCCAGGCACGGAG -3'
(R):5'- CTTCTTCTTCCTCATACAATACTTCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation