Incidental Mutation 'PIT4791001:Ttc23'
| ID |
556970 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4791001 (G1)
|
| Quality Score |
178.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
67295180-67378370 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67312135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 14
(D14V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032774]
[ENSMUST00000107470]
[ENSMUST00000107471]
|
| AlphaFold |
Q8CHY7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032774
AA Change: D14V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032774
Gene: ENSMUSG00000030555
AA Change: D14V
| 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: D14V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103094
Gene: ENSMUSG00000030555
AA Change: D14V
| 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: D14V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103095
Gene: ENSMUSG00000030555
AA Change: D14V
| 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 |
|
| Coding Region Coverage |
- 1x: 93.5%
- 3x: 90.8%
- 10x: 83.3%
- 20x: 68.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
G |
A |
15: 72,993,089 (GRCm39) |
T472I |
possibly damaging |
Het |
| Ambp |
T |
A |
4: 63,072,298 (GRCm39) |
|
probably benign |
Het |
| As3mt |
T |
A |
19: 46,708,788 (GRCm39) |
F261I |
probably damaging |
Het |
| Atxn1l |
A |
G |
8: 110,458,579 (GRCm39) |
L561P |
probably damaging |
Het |
| Cnr2 |
A |
G |
4: 135,644,263 (GRCm39) |
T114A |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,408,178 (GRCm39) |
Y1885H |
probably damaging |
Het |
| Dcn |
A |
G |
10: 97,343,604 (GRCm39) |
N188S |
probably benign |
Het |
| Dennd6b |
A |
C |
15: 89,070,955 (GRCm39) |
|
probably null |
Het |
| Dstyk |
A |
G |
1: 132,377,665 (GRCm39) |
T424A |
probably benign |
Het |
| Gabrr3 |
A |
G |
16: 59,250,298 (GRCm39) |
|
probably null |
Het |
| Gnai3 |
A |
G |
3: 108,025,621 (GRCm39) |
S153P |
probably benign |
Het |
| Igkv2-112 |
T |
A |
6: 68,197,599 (GRCm39) |
S90R |
probably damaging |
Het |
| Lxn |
T |
C |
3: 67,365,979 (GRCm39) |
D173G |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,342,307 (GRCm39) |
I1600N |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,971,406 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
T |
C |
17: 90,762,931 (GRCm39) |
|
probably benign |
Het |
| Oaz3 |
A |
G |
3: 94,340,852 (GRCm39) |
Y232H |
unknown |
Het |
| Or5aq1b |
A |
T |
2: 86,902,046 (GRCm39) |
M144K |
possibly damaging |
Het |
| Pkdcc |
C |
T |
17: 83,527,577 (GRCm39) |
R252* |
probably null |
Het |
| Plcl1 |
A |
G |
1: 55,741,090 (GRCm39) |
N907S |
probably benign |
Het |
| Plscr1 |
T |
A |
9: 92,145,150 (GRCm39) |
Y53* |
probably null |
Het |
| Pm20d2 |
T |
C |
4: 33,174,756 (GRCm39) |
T377A |
probably benign |
Het |
| Ptchd3 |
T |
A |
11: 121,722,875 (GRCm39) |
V321D |
probably damaging |
Het |
| Ranbp3l |
T |
C |
15: 9,060,829 (GRCm39) |
I366T |
probably damaging |
Het |
| Sardh |
T |
C |
2: 27,087,660 (GRCm39) |
E737G |
probably damaging |
Het |
| Scart2 |
T |
C |
7: 139,853,975 (GRCm39) |
F326S |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,103,626 (GRCm39) |
E1878G |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,552,072 (GRCm39) |
V872A |
possibly damaging |
Het |
| Sugp2 |
C |
T |
8: 70,713,195 (GRCm39) |
Q1054* |
probably null |
Het |
| Syne3 |
T |
C |
12: 104,929,438 (GRCm39) |
T261A |
probably benign |
Het |
| Tgif2 |
T |
C |
2: 156,695,232 (GRCm39) |
S126P |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,319,386 (GRCm39) |
V457A |
possibly damaging |
Het |
| Tm7sf2 |
T |
C |
19: 6,113,635 (GRCm39) |
I299V |
probably benign |
Het |
| Tnks1bp1 |
A |
G |
2: 84,892,902 (GRCm39) |
E943G |
probably benign |
Het |
| Tpd52l2 |
T |
A |
2: 181,141,681 (GRCm39) |
F21L |
probably benign |
Het |
| Tpm2 |
A |
G |
4: 43,519,263 (GRCm39) |
L176P |
probably benign |
Het |
| Trim34a |
C |
A |
7: 103,909,691 (GRCm39) |
T293K |
probably benign |
Het |
| Twsg1 |
T |
C |
17: 66,236,706 (GRCm39) |
E108G |
probably benign |
Het |
| Txndc15 |
C |
T |
13: 55,869,507 (GRCm39) |
A220V |
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,266 (GRCm39) |
Q23R |
probably damaging |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,028 (GRCm39) |
V279A |
probably damaging |
Het |
| Vmo1 |
A |
C |
11: 70,404,661 (GRCm39) |
C113W |
probably damaging |
Het |
| Zfp984 |
A |
G |
4: 147,840,603 (GRCm39) |
S83P |
probably benign |
Het |
| Zik1 |
A |
C |
7: 10,226,256 (GRCm39) |
L37R |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGAATGCCCCTTTGAAATAAAATG -3'
(R):5'- GCTCATGGCTGCTATGTGAC -3'
Sequencing Primer
(F):5'- CCTAGACGTTAACCTAGACT -3'
(R):5'- ATGGCTGCTATGTGACCCAGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation