Incidental Mutation 'R1430:Tbc1d23'
| ID |
161504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d23
|
| Ensembl Gene |
ENSMUSG00000022749 |
| Gene Name |
TBC1 domain family, member 23 |
| Synonyms |
4930451A13Rik, D030022P07Rik |
| MMRRC Submission |
039486-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.788)
|
| Stock # |
R1430 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
56989225-57051867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 57034573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 75
(D75E)
|
| 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: D75E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749
AA Change: D75E
| 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 |
possibly damaging
Transcript: ENSMUST00000226586
AA Change: D75E
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227359
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228172
AA Change: D75E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.5799 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,204,287 (GRCm39) |
|
probably benign |
Het |
| Aoc2 |
A |
G |
11: 101,217,321 (GRCm39) |
Y468C |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 117,306,056 (GRCm39) |
|
probably benign |
Het |
| Cfh |
A |
G |
1: 140,030,436 (GRCm39) |
|
probably benign |
Het |
| Cyp2j9 |
G |
T |
4: 96,472,201 (GRCm39) |
|
probably benign |
Het |
| Dapk1 |
T |
G |
13: 60,901,957 (GRCm39) |
F929V |
probably benign |
Het |
| Dhx9 |
A |
T |
1: 153,359,493 (GRCm39) |
M35K |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,346,003 (GRCm39) |
E2448K |
probably benign |
Het |
| Doc2b |
A |
T |
11: 75,670,981 (GRCm39) |
C217S |
possibly damaging |
Het |
| Dock11 |
A |
G |
X: 35,333,565 (GRCm39) |
I2010V |
probably benign |
Het |
| Dram1 |
T |
C |
10: 88,160,641 (GRCm39) |
T227A |
possibly damaging |
Het |
| Eppin |
G |
A |
2: 164,431,323 (GRCm39) |
T101M |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,082,105 (GRCm39) |
D533G |
probably damaging |
Het |
| Fmo1 |
C |
A |
1: 162,667,293 (GRCm39) |
R174L |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,828,407 (GRCm39) |
L6735I |
possibly damaging |
Het |
| Gab1 |
G |
T |
8: 81,515,241 (GRCm39) |
T359K |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,298,029 (GRCm39) |
D118G |
possibly damaging |
Het |
| Gramd1a |
A |
G |
7: 30,832,211 (GRCm39) |
S609P |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,089,150 (GRCm39) |
Y1607C |
possibly damaging |
Het |
| Lrrc24 |
G |
T |
15: 76,607,992 (GRCm39) |
|
probably null |
Het |
| Mak |
C |
A |
13: 41,223,760 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,063,768 (GRCm39) |
R2708Q |
possibly damaging |
Het |
| Mettl24 |
T |
C |
10: 40,613,791 (GRCm39) |
C177R |
probably damaging |
Het |
| Mgam |
G |
C |
6: 40,733,305 (GRCm39) |
E812D |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,111,445 (GRCm39) |
R170G |
possibly damaging |
Het |
| Msn |
G |
A |
X: 95,196,325 (GRCm39) |
V130I |
probably benign |
Het |
| Ncoa4 |
G |
A |
14: 31,898,679 (GRCm39) |
V500I |
probably benign |
Het |
| Or2aj5 |
A |
G |
16: 19,424,752 (GRCm39) |
L222P |
probably damaging |
Het |
| Or2y1b |
A |
G |
11: 49,208,928 (GRCm39) |
|
probably null |
Het |
| Or5an6 |
C |
T |
19: 12,371,801 (GRCm39) |
T58I |
probably benign |
Het |
| Or8k3b |
T |
C |
2: 86,520,866 (GRCm39) |
Y151C |
possibly damaging |
Het |
| Ppm1h |
T |
C |
10: 122,693,004 (GRCm39) |
S302P |
probably damaging |
Het |
| Prkce |
T |
A |
17: 86,866,565 (GRCm39) |
|
probably benign |
Het |
| Psenen |
T |
C |
7: 30,261,815 (GRCm39) |
I34V |
probably benign |
Het |
| Rbl1 |
T |
C |
2: 157,011,826 (GRCm39) |
T710A |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slc1a5 |
A |
G |
7: 16,516,328 (GRCm39) |
D168G |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Syce1 |
A |
T |
7: 140,359,351 (GRCm39) |
|
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,395,839 (GRCm39) |
V418A |
probably benign |
Het |
| Tmem132e |
T |
C |
11: 82,329,122 (GRCm39) |
V467A |
probably damaging |
Het |
| Tmem241 |
T |
C |
18: 12,126,651 (GRCm39) |
D144G |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,817,997 (GRCm39) |
|
probably null |
Het |
| Ubxn4 |
T |
A |
1: 128,202,617 (GRCm39) |
F420I |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,409,151 (GRCm39) |
T2645A |
probably damaging |
Het |
| Utp14b |
A |
G |
1: 78,644,111 (GRCm39) |
K670E |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,227,580 (GRCm39) |
V2010M |
probably benign |
Het |
| Zfp879 |
A |
G |
11: 50,724,784 (GRCm39) |
F91L |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,329,591 (GRCm39) |
S532P |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTGCCCAGAAGCCATTTAACC -3'
(R):5'- ACATGGTGGTGGGGACACTTGA -3'
Sequencing Primer
(F):5'- CAAGCTCTTCTAATTGAAGGCTGC -3'
(R):5'- GACACTTGATGATGTGTGGATAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation