Incidental Mutation 'R0009:Tbx19'
| ID |
8221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx19
|
| Ensembl Gene |
ENSMUSG00000026572 |
| Gene Name |
T-box 19 |
| Synonyms |
D1Ertd754e, Tpit |
| MMRRC Submission |
038304-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.679)
|
| Stock # |
R0009 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
164965424-164988342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 164988089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 15
(S15T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027859]
|
| AlphaFold |
Q99ME7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027859
AA Change: S15T
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027859
Gene: ENSMUSG00000026572
AA Change: S15T
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
38 |
221 |
1.26e-114 |
SMART |
|
low complexity region
|
263 |
275 |
N/A |
INTRINSIC |
|
Blast:TBOX
|
343 |
410 |
2e-18 |
BLAST |
|
low complexity region
|
424 |
443 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0859 |
| Coding Region Coverage |
- 1x: 79.7%
- 3x: 70.1%
- 10x: 44.5%
- 20x: 24.1%
|
| Validation Efficiency |
93% (78/84) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of a family of transcription factors containing a characteristic T-box DNA-binding domain. The encoded protein promotes expression of the pro-opiomelanocortin (POMC) gene, which is important for the differentiation of cells in the pituitary gland. [provided by RefSeq, Mar 2013]
PHENOTYPE: The phenotype of homozygous null mice is similar to that of patients with early onset pituitary ACTH deficiency. They are characterized by fasting-induced hypoglycemia due to an impaired pituitary-adrenal axis. [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 |
|---|
| A1bg |
T |
G |
15: 60,791,482 (GRCm39) |
|
probably benign |
Het |
| Afm |
C |
A |
5: 90,693,243 (GRCm39) |
|
probably benign |
Het |
| Aplnr |
T |
A |
2: 84,967,620 (GRCm39) |
|
probably null |
Het |
| Arih2 |
T |
A |
9: 108,488,926 (GRCm39) |
H264L |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,961,903 (GRCm39) |
E15G |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,432,247 (GRCm39) |
H45R |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,240,732 (GRCm39) |
L1569P |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,443,918 (GRCm39) |
Q457* |
probably null |
Het |
| Coro1a |
A |
T |
7: 126,300,585 (GRCm39) |
|
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,043,672 (GRCm39) |
L91Q |
probably damaging |
Het |
| Ctdspl |
T |
C |
9: 118,849,114 (GRCm39) |
|
probably null |
Het |
| Dnase1 |
T |
C |
16: 3,856,810 (GRCm39) |
V147A |
probably damaging |
Het |
| Glud1 |
G |
A |
14: 34,056,225 (GRCm39) |
G300S |
probably benign |
Het |
| Gm4847 |
C |
T |
1: 166,458,055 (GRCm39) |
V433I |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,857,560 (GRCm39) |
S4048P |
probably benign |
Het |
| Hp1bp3 |
T |
A |
4: 137,948,994 (GRCm39) |
I19K |
probably benign |
Het |
| Il1a |
C |
T |
2: 129,150,994 (GRCm39) |
D10N |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,500,206 (GRCm39) |
N39I |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,816,053 (GRCm39) |
Y747F |
probably benign |
Het |
| Mcc |
C |
T |
18: 44,579,000 (GRCm39) |
E803K |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,398,362 (GRCm39) |
M1087K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,309,730 (GRCm39) |
D361E |
probably benign |
Het |
| Slc35e1 |
A |
T |
8: 73,238,553 (GRCm39) |
N318K |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,802,762 (GRCm39) |
E604V |
probably benign |
Het |
| Tm4sf5 |
C |
T |
11: 70,401,538 (GRCm39) |
A179V |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,956,355 (GRCm39) |
C874S |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,891,810 (GRCm39) |
Y885N |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,150,692 (GRCm39) |
C505S |
probably damaging |
Het |
| Xpo5 |
T |
C |
17: 46,515,712 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tbx19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00561:Tbx19
|
APN |
1 |
164,987,968 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00849:Tbx19
|
APN |
1 |
164,979,609 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01545:Tbx19
|
APN |
1 |
164,966,725 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01893:Tbx19
|
APN |
1 |
164,967,767 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02451:Tbx19
|
APN |
1 |
164,967,740 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02514:Tbx19
|
APN |
1 |
164,981,273 (GRCm39) |
missense |
probably benign |
0.15 |
|
G1citation:Tbx19
|
UTSW |
1 |
164,967,709 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0009:Tbx19
|
UTSW |
1 |
164,988,089 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1600:Tbx19
|
UTSW |
1 |
164,970,136 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4605:Tbx19
|
UTSW |
1 |
164,981,153 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5410:Tbx19
|
UTSW |
1 |
164,987,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5441:Tbx19
|
UTSW |
1 |
164,981,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6814:Tbx19
|
UTSW |
1 |
164,975,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6822:Tbx19
|
UTSW |
1 |
164,967,709 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6872:Tbx19
|
UTSW |
1 |
164,975,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7078:Tbx19
|
UTSW |
1 |
164,988,135 (GRCm39) |
start gained |
probably benign |
|
|
R7711:Tbx19
|
UTSW |
1 |
164,966,768 (GRCm39) |
missense |
probably benign |
|
|
R8882:Tbx19
|
UTSW |
1 |
164,966,780 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9222:Tbx19
|
UTSW |
1 |
164,966,609 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9448:Tbx19
|
UTSW |
1 |
164,981,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9495:Tbx19
|
UTSW |
1 |
164,966,546 (GRCm39) |
missense |
unknown |
|
|
R9514:Tbx19
|
UTSW |
1 |
164,966,546 (GRCm39) |
missense |
unknown |
|
|
R9680:Tbx19
|
UTSW |
1 |
164,970,067 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Tbx19
|
UTSW |
1 |
164,970,076 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Tbx19
|
UTSW |
1 |
164,970,143 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-11-20 |
Incidental Mutation