Incidental Mutation 'IGL01980:Tbc1d23'
ID |
182722 |
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 # |
IGL01980
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
56989225-57051867 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 57009615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154535
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023431]
[ENSMUST00000226586]
|
AlphaFold |
Q8K0F1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023431
|
SMART Domains |
Protein: ENSMUSP00000023431 Gene: ENSMUSG00000022749
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
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd60 |
C |
T |
2: 173,412,996 (GRCm39) |
C164Y |
probably benign |
Het |
Atp13a2 |
C |
T |
4: 140,733,463 (GRCm39) |
A979V |
probably benign |
Het |
Col5a2 |
C |
T |
1: 45,421,393 (GRCm39) |
|
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,658,184 (GRCm39) |
N676S |
probably damaging |
Het |
Cpa1 |
T |
C |
6: 30,641,581 (GRCm39) |
F192L |
possibly damaging |
Het |
Entpd6 |
T |
A |
2: 150,604,286 (GRCm39) |
|
probably null |
Het |
Fam185a |
A |
G |
5: 21,664,171 (GRCm39) |
K302E |
probably damaging |
Het |
Il12rb2 |
T |
C |
6: 67,337,519 (GRCm39) |
K121E |
probably benign |
Het |
Impg2 |
G |
A |
16: 56,041,890 (GRCm39) |
C178Y |
probably damaging |
Het |
Kdm3b |
G |
T |
18: 34,967,289 (GRCm39) |
C1698F |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,740,851 (GRCm39) |
D451G |
probably damaging |
Het |
Mgat4b |
T |
A |
11: 50,121,540 (GRCm39) |
L52Q |
probably damaging |
Het |
Mmp9 |
C |
A |
2: 164,792,836 (GRCm39) |
S363R |
probably benign |
Het |
Mtfmt |
A |
G |
9: 65,344,356 (GRCm39) |
Y94C |
probably benign |
Het |
Myo7b |
G |
A |
18: 32,094,953 (GRCm39) |
L1881F |
possibly damaging |
Het |
Or51a10 |
A |
T |
7: 103,699,300 (GRCm39) |
M87K |
probably benign |
Het |
Or6c6 |
G |
T |
10: 129,187,386 (GRCm39) |
|
probably benign |
Het |
Pex5 |
T |
C |
6: 124,375,339 (GRCm39) |
N524S |
probably damaging |
Het |
Plppr1 |
A |
T |
4: 49,319,992 (GRCm39) |
Y206F |
possibly damaging |
Het |
Polr3e |
A |
G |
7: 120,539,519 (GRCm39) |
|
probably benign |
Het |
Rhbdd1 |
A |
G |
1: 82,318,555 (GRCm39) |
|
probably benign |
Het |
Rims4 |
A |
T |
2: 163,707,702 (GRCm39) |
|
probably benign |
Het |
Smarcal1 |
A |
T |
1: 72,655,679 (GRCm39) |
K653* |
probably null |
Het |
Stt3b |
C |
T |
9: 115,105,767 (GRCm39) |
|
probably null |
Het |
Syt8 |
C |
A |
7: 141,993,877 (GRCm39) |
L343M |
probably damaging |
Het |
Tfec |
T |
C |
6: 16,845,465 (GRCm39) |
I65V |
probably damaging |
Het |
Tmem236 |
A |
T |
2: 14,223,716 (GRCm39) |
Q168H |
probably benign |
Het |
Tmem25 |
G |
A |
9: 44,709,568 (GRCm39) |
R78* |
probably null |
Het |
Tnip2 |
A |
G |
5: 34,654,212 (GRCm39) |
V288A |
probably benign |
Het |
Ttc1 |
G |
A |
11: 43,621,291 (GRCm39) |
|
probably benign |
Het |
Tubb4b-ps1 |
A |
C |
5: 7,229,843 (GRCm39) |
|
probably benign |
Het |
Tut1 |
T |
C |
19: 8,931,364 (GRCm39) |
C21R |
probably damaging |
Het |
Ubr4 |
C |
A |
4: 139,156,913 (GRCm39) |
Q2313K |
probably damaging |
Het |
Unc5b |
T |
C |
10: 60,615,966 (GRCm39) |
E119G |
probably damaging |
Het |
Vmn1r23 |
T |
A |
6: 57,903,475 (GRCm39) |
Q101L |
probably damaging |
Het |
Vmn2r77 |
A |
G |
7: 86,450,678 (GRCm39) |
D188G |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,686,290 (GRCm39) |
E557G |
possibly damaging |
Het |
Zfp738 |
A |
G |
13: 67,818,096 (GRCm39) |
F632L |
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 |
|
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 |
2014-05-07 |