Incidental Mutation 'IGL02457:Tbc1d23'
| ID |
294417 |
| 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 # |
IGL02457
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
56989225-57051867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56990754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 690
(I690F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023431]
[ENSMUST00000023432]
[ENSMUST00000226586]
|
| AlphaFold |
Q8K0F1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023431
AA Change: I675F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749
AA Change: I675F
| 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: ENSMUST00000023432
|
| SMART Domains |
Protein: ENSMUSP00000023432
Gene: ENSMUSG00000022751
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CN_hydrolase
|
5 |
256 |
3.5e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180999
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226586
AA Change: I690F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232573
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
A |
G |
2: 181,136,127 (GRCm39) |
D343G |
probably benign |
Het |
| Acot10 |
T |
C |
15: 20,666,229 (GRCm39) |
S171G |
possibly damaging |
Het |
| Actr3b |
T |
C |
5: 26,054,160 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
T |
C |
7: 66,677,562 (GRCm39) |
M492T |
probably damaging |
Het |
| Akap4 |
A |
C |
X: 6,943,707 (GRCm39) |
N670T |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,894,299 (GRCm39) |
S55P |
possibly damaging |
Het |
| Bend3 |
A |
T |
10: 43,385,946 (GRCm39) |
E113V |
probably damaging |
Het |
| Ccdc158 |
A |
C |
5: 92,797,907 (GRCm39) |
I411S |
probably damaging |
Het |
| Cfap97 |
G |
T |
8: 46,623,315 (GRCm39) |
C235F |
possibly damaging |
Het |
| Chil4 |
T |
C |
3: 106,121,715 (GRCm39) |
N45D |
probably benign |
Het |
| Cripto |
C |
T |
9: 110,771,691 (GRCm39) |
C32Y |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,079,690 (GRCm39) |
V1131A |
probably damaging |
Het |
| Defb38 |
T |
C |
8: 19,076,552 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,866,860 (GRCm39) |
W2260R |
probably damaging |
Het |
| Ecsit |
A |
G |
9: 21,989,500 (GRCm39) |
S14P |
probably damaging |
Het |
| Eif3l |
T |
C |
15: 78,962,296 (GRCm39) |
F106L |
probably benign |
Het |
| Erich5 |
G |
T |
15: 34,470,999 (GRCm39) |
G76V |
probably damaging |
Het |
| Evpl |
A |
G |
11: 116,120,939 (GRCm39) |
L432P |
possibly damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,765,808 (GRCm39) |
F698L |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,428,470 (GRCm39) |
S2866T |
probably damaging |
Het |
| Fuca1 |
G |
A |
4: 135,662,073 (GRCm39) |
V334I |
probably benign |
Het |
| Hprt1 |
T |
A |
X: 52,091,010 (GRCm39) |
H60Q |
probably benign |
Het |
| Kirrel2 |
T |
C |
7: 30,152,165 (GRCm39) |
N481S |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lilrb4b |
T |
A |
10: 51,357,334 (GRCm39) |
Y57N |
probably benign |
Het |
| Lix1l |
A |
G |
3: 96,521,792 (GRCm39) |
Y126C |
probably damaging |
Het |
| Lox |
T |
C |
18: 52,654,388 (GRCm39) |
D347G |
probably damaging |
Het |
| Mak16 |
C |
T |
8: 31,654,753 (GRCm39) |
R147Q |
possibly damaging |
Het |
| Ndst2 |
G |
A |
14: 20,779,622 (GRCm39) |
A206V |
possibly damaging |
Het |
| Or1ak2 |
A |
T |
2: 36,827,760 (GRCm39) |
I210F |
probably damaging |
Het |
| Or2q1 |
T |
A |
6: 42,795,176 (GRCm39) |
I257N |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,627,771 (GRCm39) |
M225V |
probably benign |
Het |
| Pofut1 |
C |
T |
2: 153,090,516 (GRCm39) |
Q137* |
probably null |
Het |
| Polr2a |
T |
C |
11: 69,634,076 (GRCm39) |
|
probably benign |
Het |
| Prdm5 |
T |
A |
6: 65,858,100 (GRCm39) |
L388Q |
probably damaging |
Het |
| Rad51c |
A |
G |
11: 87,271,681 (GRCm39) |
S344P |
possibly damaging |
Het |
| Scart1 |
G |
A |
7: 139,800,308 (GRCm39) |
G30S |
probably benign |
Het |
| Sdk1 |
C |
T |
5: 141,938,771 (GRCm39) |
P398L |
probably damaging |
Het |
| Sec63 |
G |
A |
10: 42,677,729 (GRCm39) |
|
probably benign |
Het |
| Sgo1 |
A |
T |
17: 53,983,989 (GRCm39) |
L463Q |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,198,002 (GRCm39) |
L291P |
probably damaging |
Het |
| Smarcb1 |
T |
C |
10: 75,757,205 (GRCm39) |
T9A |
probably benign |
Het |
| Sp3 |
A |
G |
2: 72,801,813 (GRCm39) |
W67R |
probably damaging |
Het |
| Ssxb9 |
A |
C |
X: 21,041,234 (GRCm39) |
S23A |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,292,167 (GRCm39) |
L1367S |
probably damaging |
Het |
| Tmed5 |
A |
T |
5: 108,272,416 (GRCm39) |
S227R |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,613,803 (GRCm39) |
S814T |
probably benign |
Het |
| Trbv2 |
C |
T |
6: 41,024,905 (GRCm39) |
T107I |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,803,155 (GRCm39) |
V866A |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,804,762 (GRCm39) |
K905* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,539,654 (GRCm39) |
V34444A |
probably benign |
Het |
| Vmn1r86 |
C |
T |
7: 12,836,707 (GRCm39) |
M56I |
probably benign |
Het |
| Vmn2r17 |
A |
C |
5: 109,601,012 (GRCm39) |
D770A |
probably damaging |
Het |
| Wnk4 |
T |
C |
11: 101,160,389 (GRCm39) |
|
probably benign |
Het |
| Xaf1 |
T |
C |
11: 72,194,257 (GRCm39) |
M46T |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation