Incidental Mutation 'R2234:Tbx18'
| ID |
239932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx18
|
| Ensembl Gene |
ENSMUSG00000032419 |
| Gene Name |
T-box18 |
| Synonyms |
2810012F10Rik, 2810404D13Rik |
| MMRRC Submission |
040235-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2234 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
87584853-87613313 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 87606403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 247
(S247R)
|
| 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: S247R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034991
Gene: ENSMUSG00000032419
AA Change: S247R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192660
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
A |
G |
1: 155,434,454 (GRCm39) |
D24G |
probably damaging |
Het |
| Adarb1 |
A |
G |
10: 77,153,183 (GRCm39) |
V322A |
probably damaging |
Het |
| Akap8l |
C |
T |
17: 32,557,777 (GRCm39) |
G37R |
probably damaging |
Het |
| BC035947 |
A |
T |
1: 78,474,599 (GRCm39) |
D644E |
probably damaging |
Het |
| Capzb |
T |
A |
4: 138,989,334 (GRCm39) |
D85E |
possibly damaging |
Het |
| Cd81 |
T |
A |
7: 142,620,056 (GRCm39) |
N71K |
probably benign |
Het |
| Cemip |
G |
T |
7: 83,647,770 (GRCm39) |
D103E |
probably benign |
Het |
| Chfr |
A |
G |
5: 110,318,729 (GRCm39) |
K580E |
probably damaging |
Het |
| Chrnb1 |
A |
T |
11: 69,686,428 (GRCm39) |
I64N |
probably damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,714,829 (GRCm39) |
P596Q |
possibly damaging |
Het |
| Cpb1 |
A |
T |
3: 20,329,629 (GRCm39) |
D32E |
probably benign |
Het |
| Crh |
A |
T |
3: 19,748,096 (GRCm39) |
M182K |
probably damaging |
Het |
| Csta1 |
C |
T |
16: 35,945,445 (GRCm39) |
V23I |
probably damaging |
Het |
| Dazap1 |
A |
G |
10: 80,113,433 (GRCm39) |
K110E |
possibly damaging |
Het |
| Dhx16 |
T |
C |
17: 36,198,778 (GRCm39) |
C737R |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,079,764 (GRCm39) |
Q419* |
probably null |
Het |
| Eml5 |
A |
C |
12: 98,807,840 (GRCm39) |
D984E |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gm12695 |
C |
T |
4: 96,612,266 (GRCm39) |
R499Q |
probably damaging |
Het |
| Hid1 |
A |
G |
11: 115,241,945 (GRCm39) |
I555T |
probably damaging |
Het |
| Hspa2 |
A |
G |
12: 76,451,419 (GRCm39) |
T38A |
possibly damaging |
Het |
| Igf1r |
T |
A |
7: 67,861,828 (GRCm39) |
N1129K |
probably damaging |
Het |
| Iglon5 |
T |
C |
7: 43,130,062 (GRCm39) |
E34G |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,797 (GRCm39) |
H249L |
possibly damaging |
Het |
| Kalrn |
C |
A |
16: 33,996,632 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
T |
C |
15: 98,763,129 (GRCm39) |
D240G |
probably damaging |
Het |
| Lrrc56 |
T |
A |
7: 140,778,207 (GRCm39) |
D66E |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,487,339 (GRCm39) |
D392G |
probably damaging |
Het |
| Nphp3 |
G |
A |
9: 103,914,575 (GRCm39) |
R1052H |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or2d4 |
C |
A |
7: 106,543,827 (GRCm39) |
C127F |
probably damaging |
Het |
| Or4c114 |
A |
G |
2: 88,904,592 (GRCm39) |
L281P |
probably damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,441 (GRCm39) |
S111P |
possibly damaging |
Het |
| Or7g19 |
A |
T |
9: 18,856,112 (GRCm39) |
H56L |
probably damaging |
Het |
| Or8k39 |
A |
G |
2: 86,563,921 (GRCm39) |
F12L |
possibly damaging |
Het |
| Pax8 |
A |
G |
2: 24,333,114 (GRCm39) |
I77T |
probably damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,831,822 (GRCm39) |
I355M |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,811,441 (GRCm39) |
F331I |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,061,147 (GRCm39) |
I2952N |
probably damaging |
Het |
| Ppp1r12a |
A |
G |
10: 108,034,780 (GRCm39) |
I108M |
possibly damaging |
Het |
| Rabepk |
A |
T |
2: 34,685,246 (GRCm39) |
I58N |
possibly damaging |
Het |
| Rnf216 |
G |
A |
5: 143,076,681 (GRCm39) |
H68Y |
probably benign |
Het |
| Scap |
T |
C |
9: 110,210,661 (GRCm39) |
C998R |
probably damaging |
Het |
| Scgb1b27 |
T |
C |
7: 33,721,249 (GRCm39) |
Y46H |
probably damaging |
Het |
| Sf3a2 |
G |
T |
10: 80,638,663 (GRCm39) |
A95S |
probably benign |
Het |
| Smg7 |
A |
T |
1: 152,744,064 (GRCm39) |
Y40N |
probably damaging |
Het |
| Ssc5d |
A |
G |
7: 4,946,849 (GRCm39) |
T1068A |
probably benign |
Het |
| Stambp |
A |
G |
6: 83,528,960 (GRCm39) |
S362P |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,729,204 (GRCm39) |
I1601V |
probably benign |
Het |
| Thap4 |
G |
T |
1: 93,652,934 (GRCm39) |
Q441K |
probably benign |
Het |
| Tmprss11c |
G |
T |
5: 86,429,945 (GRCm39) |
T40K |
probably benign |
Het |
| Tnk1 |
C |
T |
11: 69,746,017 (GRCm39) |
|
probably null |
Het |
| Trim65 |
G |
T |
11: 116,021,503 (GRCm39) |
T110K |
possibly damaging |
Het |
| Uck1 |
T |
C |
2: 32,148,315 (GRCm39) |
D167G |
probably damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,269,927 (GRCm39) |
H61L |
possibly damaging |
Het |
| Xpnpep1 |
T |
G |
19: 53,001,892 (GRCm39) |
D118A |
probably damaging |
Het |
| Xylt2 |
C |
T |
11: 94,560,822 (GRCm39) |
V239M |
possibly 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 |
|
IGL03252:Tbx18
|
APN |
9 |
87,587,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACACTTGAGCTGGAGCCATG -3'
(R):5'- GCTCTGAGTTGTTAATTCCAAGG -3'
Sequencing Primer
(F):5'- GGAGCCATGGTCTCTGATACAAATAC -3'
(R):5'- GTTAATTCCAAGGAATGCACAGTCC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation