Incidental Mutation 'R0587:Tbx1'
| ID |
55821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx1
|
| Ensembl Gene |
ENSMUSG00000009097 |
| Gene Name |
T-box 1 |
| Synonyms |
nmf219 |
| MMRRC Submission |
038777-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0587 (G1)
|
| Quality Score |
94 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
18399729-18409412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18402243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 245
(A245T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009241]
[ENSMUST00000232143]
[ENSMUST00000232335]
[ENSMUST00000232589]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009241
AA Change: A245T
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000009241
Gene: ENSMUSG00000009097
AA Change: A245T
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
107 |
300 |
3.08e-127 |
SMART |
|
low complexity region
|
365 |
391 |
N/A |
INTRINSIC |
|
Blast:TBOX
|
400 |
422 |
1e-6 |
BLAST |
|
low complexity region
|
440 |
480 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232143
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232335
AA Change: A254T
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232557
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232589
|
| Meta Mutation Damage Score |
0.0797 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
94% (34/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display neonatal lethality, persistent truncus arteriosis, abnormal aortic arch, abnormal inner, middle, and outer ear morphology, abnormal lymphangiogenesis, and abnormal cranial base morphology. Heterozygous null mice display abnormal fourth aortic arch arteries. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
T |
C |
17: 36,203,855 (GRCm39) |
*212W |
probably null |
Het |
| Abca1 |
A |
G |
4: 53,107,035 (GRCm39) |
Y231H |
probably benign |
Het |
| Abca5 |
T |
G |
11: 110,202,203 (GRCm39) |
I401L |
probably benign |
Het |
| Ak2 |
A |
G |
4: 128,896,171 (GRCm39) |
D112G |
probably damaging |
Het |
| Ankrd60 |
T |
A |
2: 173,410,644 (GRCm39) |
D292V |
possibly damaging |
Het |
| Bank1 |
A |
G |
3: 135,919,798 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,978,980 (GRCm39) |
S778L |
probably benign |
Het |
| Cep76 |
C |
A |
18: 67,756,245 (GRCm39) |
E529* |
probably null |
Het |
| Col24a1 |
T |
C |
3: 144,998,906 (GRCm39) |
V13A |
possibly damaging |
Het |
| Ctsc |
T |
A |
7: 87,946,437 (GRCm39) |
H154Q |
probably benign |
Het |
| Ctsf |
A |
G |
19: 4,905,766 (GRCm39) |
E87G |
probably benign |
Het |
| Dmxl1 |
A |
T |
18: 50,068,374 (GRCm39) |
T2716S |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,212,382 (GRCm39) |
|
probably benign |
Het |
| Fcsk |
T |
A |
8: 111,609,957 (GRCm39) |
Q1019L |
probably damaging |
Het |
| Hnrnpul1 |
T |
A |
7: 25,444,657 (GRCm39) |
Y217F |
possibly damaging |
Het |
| Kmt2a |
A |
T |
9: 44,758,831 (GRCm39) |
M1039K |
probably damaging |
Het |
| Large1 |
T |
C |
8: 73,585,961 (GRCm39) |
N382D |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,977,230 (GRCm39) |
V1402A |
probably damaging |
Het |
| Mlh3 |
C |
T |
12: 85,313,193 (GRCm39) |
V998M |
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,548,616 (GRCm39) |
Y71C |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,861,634 (GRCm39) |
D139N |
unknown |
Het |
| Nes |
C |
A |
3: 87,885,876 (GRCm39) |
H1378Q |
probably benign |
Het |
| Or4c12 |
T |
C |
2: 89,773,736 (GRCm39) |
H241R |
probably damaging |
Het |
| Otud6b |
T |
C |
4: 14,815,661 (GRCm39) |
E243G |
probably benign |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Pcm1 |
G |
T |
8: 41,739,088 (GRCm39) |
R912L |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,155,497 (GRCm39) |
I2449T |
possibly damaging |
Het |
| Slc12a5 |
G |
A |
2: 164,818,453 (GRCm39) |
M217I |
probably damaging |
Het |
| Sorl1 |
C |
A |
9: 41,895,802 (GRCm39) |
W1784C |
probably damaging |
Het |
| Spatc1l |
A |
G |
10: 76,400,011 (GRCm39) |
R178G |
possibly damaging |
Het |
| Strada |
A |
C |
11: 106,061,790 (GRCm39) |
Y154D |
probably damaging |
Het |
| Syt6 |
A |
G |
3: 103,532,887 (GRCm39) |
T424A |
probably damaging |
Het |
| Tmem143 |
T |
C |
7: 45,556,478 (GRCm39) |
L161P |
probably damaging |
Het |
|
| Other mutations in Tbx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02170:Tbx1
|
APN |
16 |
18,401,552 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02553:Tbx1
|
APN |
16 |
18,402,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Tbx1
|
UTSW |
16 |
18,402,843 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1785:Tbx1
|
UTSW |
16 |
18,403,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Tbx1
|
UTSW |
16 |
18,400,744 (GRCm39) |
splice site |
probably null |
|
|
R2269:Tbx1
|
UTSW |
16 |
18,400,744 (GRCm39) |
splice site |
probably null |
|
|
R6125:Tbx1
|
UTSW |
16 |
18,402,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7036:Tbx1
|
UTSW |
16 |
18,405,551 (GRCm39) |
missense |
unknown |
|
|
R7842:Tbx1
|
UTSW |
16 |
18,405,365 (GRCm39) |
missense |
unknown |
|
|
R8048:Tbx1
|
UTSW |
16 |
18,406,769 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8350:Tbx1
|
UTSW |
16 |
18,400,795 (GRCm39) |
missense |
unknown |
|
|
R8450:Tbx1
|
UTSW |
16 |
18,400,795 (GRCm39) |
missense |
unknown |
|
|
R8979:Tbx1
|
UTSW |
16 |
18,406,745 (GRCm39) |
missense |
unknown |
|
|
R8992:Tbx1
|
UTSW |
16 |
18,402,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9662:Tbx1
|
UTSW |
16 |
18,400,882 (GRCm39) |
missense |
unknown |
|
|
Z1177:Tbx1
|
UTSW |
16 |
18,405,509 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGTGACAGTTGCAGATACAGAG -3'
(R):5'- CTGGAGACCCTAAATGGGTTGCAAG -3'
Sequencing Primer
(F):5'- TTGCAGATACAGAGGTCAAGCTG -3'
(R):5'- AATGAGGGGGTTTGCCCAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation