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 |