Incidental Mutation 'IGL00863:Tvp23b'
| ID |
10650 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tvp23b
|
| Ensembl Gene |
ENSMUSG00000014177 |
| Gene Name |
trans-golgi network vesicle protein 23B |
| Synonyms |
Fam18b, 1810036I24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00863
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
62770281-62786012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 62774464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 36
(A36E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014321]
|
| AlphaFold |
Q9D8T4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014321
AA Change: A36E
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000014321
Gene: ENSMUSG00000014177
AA Change: A36E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF846
|
32 |
174 |
9.5e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154176
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bsn |
A |
G |
9: 107,992,521 (GRCm39) |
I1077T |
probably damaging |
Het |
| Car8 |
A |
G |
4: 8,183,251 (GRCm39) |
|
probably null |
Het |
| Ccdc192 |
A |
T |
18: 57,727,158 (GRCm39) |
E136V |
probably damaging |
Het |
| Ccny |
A |
T |
18: 9,345,444 (GRCm39) |
D143E |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,876,874 (GRCm39) |
V155A |
probably damaging |
Het |
| Cript |
T |
A |
17: 87,335,151 (GRCm39) |
I14N |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Cyria |
A |
T |
12: 12,409,235 (GRCm39) |
I72F |
probably benign |
Het |
| Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,776,175 (GRCm39) |
V60A |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,245,139 (GRCm39) |
E249D |
possibly damaging |
Het |
| G6pc1 |
G |
T |
11: 101,261,549 (GRCm39) |
R83L |
probably damaging |
Het |
| Grik2 |
A |
G |
10: 49,232,024 (GRCm39) |
V502A |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,450,009 (GRCm39) |
V2001A |
probably benign |
Het |
| Il4i1 |
T |
A |
7: 44,487,470 (GRCm39) |
Y148* |
probably null |
Het |
| Jmjd4 |
T |
C |
11: 59,341,569 (GRCm39) |
S113P |
probably benign |
Het |
| Nceh1 |
C |
T |
3: 27,295,462 (GRCm39) |
P241L |
probably damaging |
Het |
| Pals1 |
A |
G |
12: 78,856,595 (GRCm39) |
D146G |
probably damaging |
Het |
| Pcdh10 |
T |
A |
3: 45,334,737 (GRCm39) |
D350E |
probably damaging |
Het |
| Pdgfrl |
A |
G |
8: 41,438,571 (GRCm39) |
E169G |
probably damaging |
Het |
| Ppm1l |
T |
A |
3: 69,225,283 (GRCm39) |
D128E |
probably damaging |
Het |
| Rasa1 |
A |
G |
13: 85,436,548 (GRCm39) |
V160A |
probably benign |
Het |
| Serf2 |
T |
C |
2: 121,288,184 (GRCm39) |
|
probably null |
Het |
| Slitrk1 |
T |
A |
14: 109,149,269 (GRCm39) |
N481Y |
probably damaging |
Het |
| Tas2r139 |
T |
G |
6: 42,118,055 (GRCm39) |
S62R |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,380 (GRCm39) |
T226S |
probably benign |
Het |
| Upp2 |
G |
A |
2: 58,680,076 (GRCm39) |
E301K |
probably benign |
Het |
|
| Other mutations in Tvp23b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00901:Tvp23b
|
APN |
11 |
62,774,606 (GRCm39) |
splice site |
probably benign |
|
|
IGL02004:Tvp23b
|
APN |
11 |
62,782,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Chipotle
|
UTSW |
11 |
62,770,424 (GRCm39) |
splice site |
probably null |
|
|
R0117:Tvp23b
|
UTSW |
11 |
62,770,430 (GRCm39) |
unclassified |
probably benign |
|
|
R3838:Tvp23b
|
UTSW |
11 |
62,774,455 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4596:Tvp23b
|
UTSW |
11 |
62,774,544 (GRCm39) |
missense |
probably benign |
|
|
R4840:Tvp23b
|
UTSW |
11 |
62,770,424 (GRCm39) |
splice site |
probably null |
|
|
R6952:Tvp23b
|
UTSW |
11 |
62,775,952 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7499:Tvp23b
|
UTSW |
11 |
62,770,289 (GRCm39) |
unclassified |
probably benign |
|
|
R7516:Tvp23b
|
UTSW |
11 |
62,782,867 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8511:Tvp23b
|
UTSW |
11 |
62,774,563 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9206:Tvp23b
|
UTSW |
11 |
62,772,842 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Z1186:Tvp23b
|
UTSW |
11 |
62,772,769 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1187:Tvp23b
|
UTSW |
11 |
62,772,769 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1188:Tvp23b
|
UTSW |
11 |
62,772,769 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1189:Tvp23b
|
UTSW |
11 |
62,772,769 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1190:Tvp23b
|
UTSW |
11 |
62,772,769 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1191:Tvp23b
|
UTSW |
11 |
62,772,769 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1192:Tvp23b
|
UTSW |
11 |
62,772,769 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Posted On |
2012-12-06 |
Incidental Mutation