Incidental Mutation 'IGL03252:Tbx18'
| ID |
414560 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbx18
|
| Ensembl Gene |
ENSMUSG00000032419 |
| Gene Name |
T-box18 |
| Synonyms |
2810012F10Rik, 2810404D13Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03252
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
87584853-87613313 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87587633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 495
(I495F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034991]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034991
AA Change: I495F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034991
Gene: ENSMUSG00000032419
AA Change: I495F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
132 |
N/A |
INTRINSIC |
|
TBOX
|
144 |
341 |
8.7e-127 |
SMART |
|
low complexity region
|
461 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
567 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous null mice fail to maintain anterior-posterior polarity of the lateral sclerotome and display neonatal lethality and abnormal vertebral, rib and spinal nerve morphology. Mice homozygous for another targeted allele exhibit neonatal lethality, abnormal skeleton and abnormal coronary vessels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B4galnt2 |
A |
G |
11: 95,764,757 (GRCm39) |
S237P |
probably damaging |
Het |
| Btla |
A |
G |
16: 45,059,509 (GRCm39) |
H71R |
possibly damaging |
Het |
| Calml3 |
T |
A |
13: 3,853,759 (GRCm39) |
K149* |
probably null |
Het |
| Cyp2c29 |
T |
C |
19: 39,275,619 (GRCm39) |
W20R |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,892,894 (GRCm39) |
|
probably null |
Het |
| Elf3 |
T |
C |
1: 135,182,691 (GRCm39) |
T345A |
probably damaging |
Het |
| Erc2 |
T |
C |
14: 28,197,606 (GRCm39) |
|
probably benign |
Het |
| Gm10375 |
C |
T |
14: 43,842,289 (GRCm39) |
C147Y |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,539,916 (GRCm39) |
R13G |
probably damaging |
Het |
| H3c1 |
G |
A |
13: 23,945,943 (GRCm39) |
|
probably null |
Het |
| Ighg3 |
G |
T |
12: 113,324,184 (GRCm39) |
P101H |
unknown |
Het |
| L3mbtl3 |
A |
G |
10: 26,207,710 (GRCm39) |
|
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,702,481 (GRCm39) |
N254S |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,143,042 (GRCm39) |
D990V |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,962,745 (GRCm39) |
F394I |
probably damaging |
Het |
| Nek1 |
C |
T |
8: 61,525,364 (GRCm39) |
Q601* |
probably null |
Het |
| Or4k37 |
T |
A |
2: 111,159,125 (GRCm39) |
Y120* |
probably null |
Het |
| Or52n2c |
C |
T |
7: 104,574,594 (GRCm39) |
V126I |
probably benign |
Het |
| Plcb1 |
C |
T |
2: 135,212,348 (GRCm39) |
P980S |
probably benign |
Het |
| Puf60 |
T |
C |
15: 75,943,699 (GRCm39) |
D224G |
probably damaging |
Het |
| Pus7l |
T |
A |
15: 94,423,691 (GRCm39) |
H586L |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,315,748 (GRCm39) |
S585P |
probably benign |
Het |
| Rxfp1 |
T |
A |
3: 79,574,990 (GRCm39) |
D207V |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Sptlc2 |
A |
G |
12: 87,402,431 (GRCm39) |
I165T |
probably benign |
Het |
| Sult2a3 |
A |
G |
7: 13,801,559 (GRCm39) |
V260A |
probably damaging |
Het |
| Tas2r125 |
A |
G |
6: 132,887,553 (GRCm39) |
|
probably null |
Het |
| Top2b |
A |
T |
14: 16,393,163 (GRCm38) |
N274I |
possibly damaging |
Het |
| Vmn2r53 |
T |
G |
7: 12,340,318 (GRCm39) |
T52P |
probably damaging |
Het |
|
| Other mutations in Tbx18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00471:Tbx18
|
APN |
9 |
87,587,676 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL00832:Tbx18
|
APN |
9 |
87,587,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01287:Tbx18
|
APN |
9 |
87,606,384 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01406:Tbx18
|
APN |
9 |
87,595,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01587:Tbx18
|
APN |
9 |
87,606,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01898:Tbx18
|
APN |
9 |
87,589,912 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02624:Tbx18
|
APN |
9 |
87,609,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03057:Tbx18
|
APN |
9 |
87,612,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0126:Tbx18
|
UTSW |
9 |
87,611,706 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0243:Tbx18
|
UTSW |
9 |
87,597,569 (GRCm39) |
splice site |
probably benign |
|
|
R0374:Tbx18
|
UTSW |
9 |
87,606,408 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0666:Tbx18
|
UTSW |
9 |
87,606,462 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2141:Tbx18
|
UTSW |
9 |
87,597,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2183:Tbx18
|
UTSW |
9 |
87,587,789 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2233:Tbx18
|
UTSW |
9 |
87,606,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Tbx18
|
UTSW |
9 |
87,606,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2235:Tbx18
|
UTSW |
9 |
87,606,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3835:Tbx18
|
UTSW |
9 |
87,611,689 (GRCm39) |
missense |
probably benign |
|
|
R4214:Tbx18
|
UTSW |
9 |
87,606,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4606:Tbx18
|
UTSW |
9 |
87,612,822 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4834:Tbx18
|
UTSW |
9 |
87,609,502 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5112:Tbx18
|
UTSW |
9 |
87,597,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5887:Tbx18
|
UTSW |
9 |
87,595,566 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6628:Tbx18
|
UTSW |
9 |
87,597,588 (GRCm39) |
nonsense |
probably null |
|
|
R6659:Tbx18
|
UTSW |
9 |
87,589,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:Tbx18
|
UTSW |
9 |
87,609,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7057:Tbx18
|
UTSW |
9 |
87,587,317 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7167:Tbx18
|
UTSW |
9 |
87,589,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7368:Tbx18
|
UTSW |
9 |
87,612,750 (GRCm39) |
missense |
probably benign |
|
|
R8147:Tbx18
|
UTSW |
9 |
87,606,411 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8993:Tbx18
|
UTSW |
9 |
87,612,770 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9263:Tbx18
|
UTSW |
9 |
87,611,521 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9291:Tbx18
|
UTSW |
9 |
87,611,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9396:Tbx18
|
UTSW |
9 |
87,609,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9420:Tbx18
|
UTSW |
9 |
87,612,675 (GRCm39) |
missense |
probably benign |
|
|
R9508:Tbx18
|
UTSW |
9 |
87,587,926 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9577:Tbx18
|
UTSW |
9 |
87,611,512 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation