Incidental Mutation 'R0386:Tbc1d23'
| ID |
31311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d23
|
| Ensembl Gene |
ENSMUSG00000022749 |
| Gene Name |
TBC1 domain family, member 23 |
| Synonyms |
4930451A13Rik, D030022P07Rik |
| MMRRC Submission |
038592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.792)
|
| Stock # |
R0386 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
56989225-57051867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 57009636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 418
(H418Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023431]
[ENSMUST00000226586]
|
| AlphaFold |
Q8K0F1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023431
AA Change: H418Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749
AA Change: H418Y
| 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: H418Y
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231435
|
| Meta Mutation Damage Score |
0.0904 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.3%
|
| Validation Efficiency |
98% (56/57) |
| 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 |
|---|
| Aasdh |
A |
G |
5: 77,044,308 (GRCm39) |
V194A |
probably damaging |
Het |
| Adamts13 |
G |
A |
2: 26,876,691 (GRCm39) |
|
probably null |
Het |
| Ahnak |
T |
C |
19: 8,988,508 (GRCm39) |
M3264T |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,906,335 (GRCm39) |
C1409S |
probably damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,338,687 (GRCm39) |
V3161A |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,383,727 (GRCm39) |
Y2983F |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,060,107 (GRCm39) |
L2774F |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,256,917 (GRCm39) |
T4398S |
probably damaging |
Het |
| Efcab5 |
G |
A |
11: 77,031,749 (GRCm39) |
R42W |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 77,063,204 (GRCm39) |
M96K |
probably benign |
Het |
| Elavl4 |
A |
G |
4: 110,063,902 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,535,213 (GRCm39) |
A1214T |
probably benign |
Het |
| Fn1 |
G |
T |
1: 71,634,945 (GRCm39) |
T2127N |
probably damaging |
Het |
| Foxj1 |
A |
T |
11: 116,222,629 (GRCm39) |
S391R |
possibly damaging |
Het |
| Gabrb1 |
A |
T |
5: 72,266,150 (GRCm39) |
Y269F |
probably damaging |
Het |
| Ghitm |
A |
G |
14: 36,847,868 (GRCm39) |
S259P |
possibly damaging |
Het |
| Gm16332 |
A |
G |
1: 139,851,928 (GRCm39) |
|
noncoding transcript |
Het |
| Gm16380 |
T |
A |
9: 53,791,727 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9869 |
A |
T |
9: 60,745,344 (GRCm39) |
|
probably benign |
Het |
| Gm9936 |
G |
A |
5: 114,995,192 (GRCm39) |
Q142* |
probably null |
Het |
| Hmbs |
T |
C |
9: 44,248,305 (GRCm39) |
Y260C |
probably benign |
Het |
| Hoxc5 |
T |
A |
15: 102,923,784 (GRCm39) |
C193* |
probably null |
Het |
| Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
| Lce1j |
T |
C |
3: 92,696,695 (GRCm39) |
K28E |
unknown |
Het |
| Lpgat1 |
C |
T |
1: 191,451,460 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,882,799 (GRCm39) |
|
probably benign |
Het |
| Megf11 |
A |
G |
9: 64,547,360 (GRCm39) |
N235D |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,794,003 (GRCm39) |
|
probably null |
Het |
| Nr2c2ap |
A |
G |
8: 70,584,237 (GRCm39) |
D9G |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,027,165 (GRCm39) |
T13A |
probably damaging |
Het |
| Ofcc1 |
A |
C |
13: 40,367,950 (GRCm39) |
L188* |
probably null |
Het |
| Oma1 |
A |
T |
4: 103,182,398 (GRCm39) |
|
probably benign |
Het |
| Or10aa3 |
A |
T |
1: 173,877,965 (GRCm39) |
T9S |
probably benign |
Het |
| Or5m11 |
A |
G |
2: 85,782,217 (GRCm39) |
E270G |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,769,060 (GRCm39) |
F1642S |
probably damaging |
Het |
| Pglyrp2 |
A |
G |
17: 32,639,836 (GRCm39) |
M1T |
probably null |
Het |
| Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
| Prdm10 |
C |
A |
9: 31,227,596 (GRCm39) |
T67K |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,754,852 (GRCm39) |
H1193Q |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,759,232 (GRCm39) |
S291P |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,784,290 (GRCm39) |
T150A |
probably damaging |
Het |
| Sel1l2 |
T |
A |
2: 140,117,361 (GRCm39) |
Y170F |
probably benign |
Het |
| Sema4a |
C |
T |
3: 88,344,107 (GRCm39) |
V715I |
possibly damaging |
Het |
| Smgc |
G |
A |
15: 91,738,841 (GRCm39) |
A500T |
probably benign |
Het |
| Spef2 |
A |
G |
15: 9,584,148 (GRCm39) |
V1639A |
probably damaging |
Het |
| Srrm4 |
A |
G |
5: 116,620,437 (GRCm39) |
|
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,420,159 (GRCm39) |
L10P |
probably damaging |
Het |
| Thumpd3 |
G |
A |
6: 113,042,621 (GRCm39) |
|
probably null |
Het |
| Trp53bp1 |
G |
T |
2: 121,035,424 (GRCm39) |
T1609K |
probably damaging |
Het |
| Tut1 |
A |
G |
19: 8,932,919 (GRCm39) |
N84S |
probably benign |
Het |
| Urb1 |
C |
T |
16: 90,593,287 (GRCm39) |
G282R |
probably damaging |
Het |
| Usp19 |
A |
T |
9: 108,376,910 (GRCm39) |
D1160V |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,316,933 (GRCm39) |
V1872A |
probably damaging |
Het |
| Zfp276 |
C |
A |
8: 123,986,242 (GRCm39) |
Y386* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCAACACAGTGATAAATGGCACAGT -3'
(R):5'- CCAGAATCCATCTGAGTTTGCACAGT -3'
Sequencing Primer
(F):5'- AATGGCACAGTAATTTTCCTACCTC -3'
(R):5'- GCACAGTCAGTAAAGTCCTTG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation