Incidental Mutation 'IGL01063:Tbc1d23'
ID |
52877 |
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: 0.792)
|
Stock # |
IGL01063
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
56989225-57051867 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57013038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 311
(D311E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154535
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023431]
[ENSMUST00000226586]
|
AlphaFold |
Q8K0F1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023431
AA Change: D311E
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000023431 Gene: ENSMUSG00000022749 AA Change: D311E
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 benign
Transcript: ENSMUST00000226586
AA Change: D311E
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231391
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231435
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
4930444P10Rik |
A |
T |
1: 16,148,870 (GRCm39) |
L61* |
probably null |
Het |
Abca7 |
T |
C |
10: 79,847,131 (GRCm39) |
I1705T |
probably damaging |
Het |
Ablim1 |
T |
A |
19: 57,049,760 (GRCm39) |
I393F |
probably damaging |
Het |
Adamts5 |
A |
G |
16: 85,696,722 (GRCm39) |
L145P |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,846,310 (GRCm39) |
I537T |
probably damaging |
Het |
AU018091 |
T |
C |
7: 3,212,153 (GRCm39) |
I190V |
possibly damaging |
Het |
Camk1 |
T |
A |
6: 113,315,333 (GRCm39) |
D155V |
probably damaging |
Het |
Cdh6 |
A |
C |
15: 13,064,581 (GRCm39) |
I103S |
probably damaging |
Het |
Cntnap1 |
A |
G |
11: 101,072,614 (GRCm39) |
D537G |
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,730,054 (GRCm39) |
K1144E |
probably damaging |
Het |
Cpeb1 |
T |
A |
7: 81,021,929 (GRCm39) |
E71D |
probably benign |
Het |
Cps1 |
T |
C |
1: 67,234,325 (GRCm39) |
L904P |
possibly damaging |
Het |
Cyfip1 |
T |
A |
7: 55,553,958 (GRCm39) |
F700I |
probably damaging |
Het |
Dmp1 |
G |
A |
5: 104,354,965 (GRCm39) |
M1I |
probably null |
Het |
Efcab6 |
A |
T |
15: 83,938,713 (GRCm39) |
M1K |
probably null |
Het |
Extl2 |
A |
T |
3: 115,821,131 (GRCm39) |
H312L |
possibly damaging |
Het |
Fat4 |
C |
A |
3: 38,944,728 (GRCm39) |
A1207D |
possibly damaging |
Het |
Flnb |
T |
C |
14: 7,926,518 (GRCm38) |
|
probably benign |
Het |
Hdac10 |
G |
T |
15: 89,008,071 (GRCm39) |
A593E |
possibly damaging |
Het |
Hdhd2 |
T |
C |
18: 77,052,969 (GRCm39) |
|
probably null |
Het |
Kcnq2 |
A |
G |
2: 180,751,582 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
A |
G |
6: 39,142,064 (GRCm39) |
F405L |
probably damaging |
Het |
Lypd6b |
C |
A |
2: 49,833,642 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
T |
7: 135,296,651 (GRCm39) |
D2794E |
possibly damaging |
Het |
Mtmr14 |
T |
A |
6: 113,243,287 (GRCm39) |
F40I |
probably damaging |
Het |
Or2y3 |
G |
T |
17: 38,393,544 (GRCm39) |
S108R |
possibly damaging |
Het |
Or5p55 |
A |
T |
7: 107,566,741 (GRCm39) |
I46F |
probably damaging |
Het |
Or6d13 |
T |
A |
6: 116,517,968 (GRCm39) |
C185S |
probably damaging |
Het |
Or6x1 |
A |
T |
9: 40,099,052 (GRCm39) |
I214F |
probably benign |
Het |
Ppargc1a |
C |
A |
5: 51,631,664 (GRCm39) |
V322L |
probably benign |
Het |
Ppfibp1 |
T |
A |
6: 146,931,195 (GRCm39) |
M917K |
probably benign |
Het |
Prkg2 |
C |
T |
5: 99,117,795 (GRCm39) |
|
probably null |
Het |
Rfx4 |
A |
G |
10: 84,704,246 (GRCm39) |
E296G |
possibly damaging |
Het |
Rfx8 |
T |
A |
1: 39,722,110 (GRCm39) |
K292* |
probably null |
Het |
Scamp3 |
C |
A |
3: 89,084,973 (GRCm39) |
|
probably benign |
Het |
Scn4a |
A |
T |
11: 106,221,190 (GRCm39) |
I823N |
possibly damaging |
Het |
Sdk2 |
A |
G |
11: 113,721,668 (GRCm39) |
V1316A |
probably damaging |
Het |
Setd2 |
T |
C |
9: 110,402,741 (GRCm39) |
V1794A |
probably damaging |
Het |
Stard8 |
G |
T |
X: 98,116,694 (GRCm39) |
R983L |
probably damaging |
Het |
Tex21 |
T |
C |
12: 76,245,592 (GRCm39) |
H568R |
probably benign |
Het |
Tex35 |
T |
C |
1: 156,932,667 (GRCm39) |
|
probably benign |
Het |
Tgs1 |
T |
A |
4: 3,591,292 (GRCm39) |
F442I |
possibly damaging |
Het |
Traf2 |
C |
A |
2: 25,414,931 (GRCm39) |
C303F |
probably benign |
Het |
Trim56 |
A |
T |
5: 137,143,354 (GRCm39) |
V54D |
possibly damaging |
Het |
Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
Zfp668 |
A |
T |
7: 127,465,454 (GRCm39) |
C577S |
probably 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 |
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 |
IGL03226:Tbc1d23
|
APN |
16 |
57,034,625 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-06-21 |