Incidental Mutation 'IGL03226:Tbc1d23'
| ID |
414835 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d23
|
| Ensembl Gene |
ENSMUSG00000022749 |
| Gene Name |
TBC1 domain family, member 23 |
| Synonyms |
4930451A13Rik, D030022P07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.788)
|
| Stock # |
IGL03226
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
56989225-57051867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57034625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 58
(L58Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023431]
[ENSMUST00000226586]
[ENSMUST00000228172]
|
| AlphaFold |
Q8K0F1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023431
AA Change: L58Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749
AA Change: L58Q
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
41 |
249 |
7.22e-5 |
SMART |
|
RHOD
|
323 |
443 |
7.83e-1 |
SMART |
|
low complexity region
|
459 |
472 |
N/A |
INTRINSIC |
|
Blast:TBC
|
506 |
630 |
8e-14 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226586
AA Change: L58Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227359
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228172
AA Change: L58Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit increased serum cytokine production and inflammatory cells in the peritoneum following i.p. lipopolysaccharide injection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
A |
G |
14: 70,395,058 (GRCm39) |
V32A |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,225,679 (GRCm39) |
T944A |
probably benign |
Het |
| Bcat2 |
T |
A |
7: 45,237,778 (GRCm39) |
V348E |
probably damaging |
Het |
| Bnip2 |
A |
G |
9: 69,903,456 (GRCm39) |
D36G |
probably benign |
Het |
| C2cd5 |
T |
A |
6: 143,018,292 (GRCm39) |
D310V |
possibly damaging |
Het |
| Cltc |
G |
A |
11: 86,611,113 (GRCm39) |
T582M |
probably damaging |
Het |
| Cplx3 |
A |
T |
9: 57,517,290 (GRCm39) |
Y365N |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,125,918 (GRCm39) |
H1896R |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,028,501 (GRCm39) |
R413G |
possibly damaging |
Het |
| Fam131b |
C |
T |
6: 42,295,888 (GRCm39) |
M169I |
possibly damaging |
Het |
| Fam241b |
A |
G |
10: 61,945,671 (GRCm39) |
S52P |
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,194,498 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
T |
A |
3: 82,026,331 (GRCm39) |
Q41L |
probably benign |
Het |
| Ifna16 |
T |
C |
4: 88,594,741 (GRCm39) |
D118G |
probably benign |
Het |
| Kcnn1 |
T |
C |
8: 71,299,135 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Lyst |
A |
T |
13: 13,884,144 (GRCm39) |
H2984L |
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,462,403 (GRCm39) |
Q369* |
probably null |
Het |
| Nalcn |
A |
C |
14: 123,518,527 (GRCm39) |
W1671G |
probably benign |
Het |
| Ndrg2 |
G |
A |
14: 52,144,026 (GRCm39) |
|
probably benign |
Het |
| Nfia |
C |
A |
4: 97,951,286 (GRCm39) |
P371Q |
probably damaging |
Het |
| Or10d5 |
A |
C |
9: 39,861,719 (GRCm39) |
|
probably null |
Het |
| Pcdhb22 |
A |
G |
18: 37,652,009 (GRCm39) |
D159G |
probably damaging |
Het |
| Plekhm3 |
A |
T |
1: 64,960,959 (GRCm39) |
D432E |
possibly damaging |
Het |
| Pramel17 |
T |
A |
4: 101,692,594 (GRCm39) |
T469S |
probably benign |
Het |
| Rab2a |
A |
G |
4: 8,606,448 (GRCm39) |
N195S |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,173,308 (GRCm39) |
Y1764H |
possibly damaging |
Het |
| Scap |
A |
G |
9: 110,213,335 (GRCm39) |
T1127A |
possibly damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,328 (GRCm39) |
T193A |
probably benign |
Het |
| Slc45a2 |
A |
G |
15: 11,022,278 (GRCm39) |
D340G |
probably damaging |
Het |
| Tmcc1 |
T |
C |
6: 116,110,937 (GRCm39) |
T119A |
probably damaging |
Het |
| Tnfsf10 |
C |
A |
3: 27,389,597 (GRCm39) |
Y219* |
probably null |
Het |
| Traip |
G |
A |
9: 107,848,192 (GRCm39) |
R437Q |
probably damaging |
Het |
| Tyw3 |
T |
C |
3: 154,293,187 (GRCm39) |
T163A |
possibly damaging |
Het |
|
| Other mutations in Tbc1d23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:Tbc1d23
|
APN |
16 |
56,992,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01063:Tbc1d23
|
APN |
16 |
57,013,038 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01951:Tbc1d23
|
APN |
16 |
57,007,048 (GRCm39) |
splice site |
probably benign |
|
|
IGL01980:Tbc1d23
|
APN |
16 |
57,009,615 (GRCm39) |
splice site |
probably benign |
|
|
IGL02457:Tbc1d23
|
APN |
16 |
56,990,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02937:Tbc1d23
|
APN |
16 |
57,004,778 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0386:Tbc1d23
|
UTSW |
16 |
57,009,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0472:Tbc1d23
|
UTSW |
16 |
56,993,469 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0479:Tbc1d23
|
UTSW |
16 |
56,992,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Tbc1d23
|
UTSW |
16 |
56,993,469 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1124:Tbc1d23
|
UTSW |
16 |
57,034,525 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1430:Tbc1d23
|
UTSW |
16 |
57,034,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Tbc1d23
|
UTSW |
16 |
56,993,463 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1978:Tbc1d23
|
UTSW |
16 |
57,009,714 (GRCm39) |
missense |
probably benign |
|
|
R4675:Tbc1d23
|
UTSW |
16 |
57,003,325 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4756:Tbc1d23
|
UTSW |
16 |
57,019,258 (GRCm39) |
frame shift |
probably null |
|
|
R4781:Tbc1d23
|
UTSW |
16 |
57,038,778 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4799:Tbc1d23
|
UTSW |
16 |
57,012,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4895:Tbc1d23
|
UTSW |
16 |
57,019,220 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5389:Tbc1d23
|
UTSW |
16 |
57,019,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5601:Tbc1d23
|
UTSW |
16 |
57,018,672 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6041:Tbc1d23
|
UTSW |
16 |
56,993,513 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6176:Tbc1d23
|
UTSW |
16 |
56,992,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Tbc1d23
|
UTSW |
16 |
57,051,713 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6228:Tbc1d23
|
UTSW |
16 |
57,003,266 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6232:Tbc1d23
|
UTSW |
16 |
56,990,796 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6484:Tbc1d23
|
UTSW |
16 |
56,998,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6670:Tbc1d23
|
UTSW |
16 |
57,034,580 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6957:Tbc1d23
|
UTSW |
16 |
57,028,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7218:Tbc1d23
|
UTSW |
16 |
56,990,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7601:Tbc1d23
|
UTSW |
16 |
57,001,897 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7877:Tbc1d23
|
UTSW |
16 |
56,993,488 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7886:Tbc1d23
|
UTSW |
16 |
57,009,746 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8202:Tbc1d23
|
UTSW |
16 |
57,011,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Tbc1d23
|
UTSW |
16 |
56,992,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Tbc1d23
|
UTSW |
16 |
56,992,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:Tbc1d23
|
UTSW |
16 |
57,032,748 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9405:Tbc1d23
|
UTSW |
16 |
57,012,985 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9522:Tbc1d23
|
UTSW |
16 |
57,019,107 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9772:Tbc1d23
|
UTSW |
16 |
56,990,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tbc1d23
|
UTSW |
16 |
57,003,338 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation