Incidental Mutation 'R6670:Tbc1d23'
| ID |
527116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d23
|
| Ensembl Gene |
ENSMUSG00000022749 |
| Gene Name |
TBC1 domain family, member 23 |
| Synonyms |
4930451A13Rik, D030022P07Rik |
| MMRRC Submission |
044790-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.792)
|
| Stock # |
R6670 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
56989225-57051867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57034580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 73
(I73N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023431]
[ENSMUST00000226586]
[ENSMUST00000228172]
|
| AlphaFold |
Q8K0F1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023431
AA Change: I73N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749
AA Change: I73N
| 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: I73N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228172
AA Change: I73N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0804 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
100% (38/38) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,827,850 (GRCm39) |
1544 |
probably benign |
Het |
| Acsm3 |
T |
A |
7: 119,379,978 (GRCm39) |
|
probably null |
Het |
| AW551984 |
T |
C |
9: 39,504,292 (GRCm39) |
D558G |
probably damaging |
Het |
| Bcl9l |
GTGAACATGAACATGAACATGAAC |
GTGAACATGAACATGAACATGAACATGAAC |
9: 44,418,369 (GRCm39) |
|
probably benign |
Het |
| Brd8dc |
A |
G |
18: 34,719,319 (GRCm39) |
V167A |
possibly damaging |
Het |
| Ccdc12 |
T |
G |
9: 110,537,595 (GRCm39) |
|
probably null |
Het |
| Ctsl |
T |
C |
13: 64,511,916 (GRCm39) |
|
probably null |
Het |
| Cul1 |
T |
A |
6: 47,494,068 (GRCm39) |
D460E |
probably damaging |
Het |
| Dnttip2 |
T |
A |
3: 122,069,870 (GRCm39) |
S362T |
probably damaging |
Het |
| Fbxw16 |
T |
A |
9: 109,267,280 (GRCm39) |
D317V |
probably damaging |
Het |
| Fbxw9 |
T |
A |
8: 85,788,839 (GRCm39) |
N196K |
possibly damaging |
Het |
| Grap |
A |
G |
11: 61,551,064 (GRCm39) |
D32G |
probably damaging |
Het |
| Hhatl |
T |
C |
9: 121,618,137 (GRCm39) |
D206G |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,192 (GRCm39) |
Q3143H |
unknown |
Het |
| Ighv1-62-1 |
T |
C |
12: 115,350,529 (GRCm39) |
Y46C |
probably damaging |
Het |
| Krtap16-3 |
A |
T |
16: 88,759,540 (GRCm39) |
Y58N |
unknown |
Het |
| Mef2c |
A |
G |
13: 83,810,716 (GRCm39) |
K384R |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,702,084 (GRCm39) |
Y476H |
possibly damaging |
Het |
| Oxgr1 |
A |
T |
14: 120,259,669 (GRCm39) |
N179K |
probably damaging |
Het |
| Polk |
G |
A |
13: 96,633,138 (GRCm39) |
Q302* |
probably null |
Het |
| Rab3gap1 |
T |
A |
1: 127,858,512 (GRCm39) |
S540R |
probably benign |
Het |
| Samd5 |
A |
T |
10: 9,504,808 (GRCm39) |
|
probably null |
Het |
| Sema6d |
GTGATAC |
G |
2: 124,496,762 (GRCm39) |
|
probably benign |
Het |
| Slc1a6 |
C |
A |
10: 78,623,646 (GRCm39) |
A15D |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,956,883 (GRCm39) |
C52R |
probably damaging |
Het |
| Sod2 |
T |
A |
17: 13,227,252 (GRCm39) |
Y69N |
possibly damaging |
Het |
| Tank |
T |
C |
2: 61,474,768 (GRCm39) |
|
probably null |
Het |
| Tnf |
A |
C |
17: 35,420,800 (GRCm39) |
M6R |
possibly damaging |
Het |
| Trmt2a |
C |
T |
16: 18,068,341 (GRCm39) |
A16V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,556,055 (GRCm39) |
Y21990H |
probably damaging |
Het |
| Uaca |
C |
T |
9: 60,779,306 (GRCm39) |
S1231L |
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,754,611 (GRCm39) |
|
probably null |
Het |
| Unc13b |
A |
G |
4: 43,255,562 (GRCm39) |
D3849G |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,644 (GRCm39) |
D723V |
probably damaging |
Het |
| Wnt2 |
C |
A |
6: 18,028,091 (GRCm39) |
V48L |
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 |
|
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 |
|
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'- AACAGTAAAACCTGGCTCTTTCTC -3'
(R):5'- GGAAAGTCTGATAAAGGAGCCTTTTG -3'
Sequencing Primer
(F):5'- ACCTGGCTCTTTCTCAAAATTATG -3'
(R):5'- AAAGGAGCCTTTTGTTACATGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation