Incidental Mutation 'R4605:Tbx19'
| ID |
345954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx19
|
| Ensembl Gene |
ENSMUSG00000026572 |
| Gene Name |
T-box 19 |
| Synonyms |
D1Ertd754e, Tpit |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.679)
|
| Stock # |
R4605 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
164965424-164988342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 164981153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 114
(V114I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027859]
|
| AlphaFold |
Q99ME7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027859
AA Change: V114I
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027859
Gene: ENSMUSG00000026572
AA Change: V114I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160350
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161144
AA Change: V48I
|
| SMART Domains |
Protein: ENSMUSP00000123909
Gene: ENSMUSG00000026572
AA Change: V48I
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
1 |
156 |
4.56e-80 |
SMART |
|
Blast:TBOX
|
215 |
282 |
5e-19 |
BLAST |
|
low complexity region
|
296 |
315 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161777
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162550
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankra2 |
A |
G |
13: 98,402,742 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
T |
A |
18: 80,796,364 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,946,929 (GRCm39) |
D2885N |
probably damaging |
Het |
| Chaf1b |
A |
T |
16: 93,684,977 (GRCm39) |
N142I |
possibly damaging |
Het |
| Ckap5 |
G |
A |
2: 91,406,559 (GRCm39) |
G787S |
probably damaging |
Het |
| Ctc1 |
G |
T |
11: 68,920,552 (GRCm39) |
C372F |
possibly damaging |
Het |
| Dip2b |
A |
G |
15: 100,107,517 (GRCm39) |
T1176A |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,779,550 (GRCm39) |
E132G |
probably damaging |
Het |
| Extl1 |
A |
G |
4: 134,087,145 (GRCm39) |
V471A |
probably benign |
Het |
| Fgd6 |
T |
C |
10: 93,880,217 (GRCm39) |
L357P |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,618,549 (GRCm39) |
C275S |
probably damaging |
Het |
| Kcnj2 |
G |
A |
11: 110,963,676 (GRCm39) |
C356Y |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,456,219 (GRCm39) |
D204G |
probably damaging |
Het |
| Krtap9-1 |
A |
C |
11: 99,764,579 (GRCm39) |
E105A |
unknown |
Het |
| Loxhd1 |
G |
A |
18: 77,493,642 (GRCm39) |
V668I |
probably benign |
Het |
| Ly86 |
T |
C |
13: 37,558,987 (GRCm39) |
I62T |
possibly damaging |
Het |
| Maip1 |
A |
G |
1: 57,450,891 (GRCm39) |
I178V |
probably benign |
Het |
| Mical3 |
G |
A |
6: 121,011,041 (GRCm39) |
Q386* |
probably null |
Het |
| Or5an11 |
T |
C |
19: 12,246,532 (GRCm39) |
*313Q |
probably null |
Het |
| Or5b107 |
T |
A |
19: 13,142,612 (GRCm39) |
V78D |
probably damaging |
Het |
| Or5p52 |
A |
C |
7: 107,502,445 (GRCm39) |
I174L |
probably benign |
Het |
| Or8j3b |
G |
A |
2: 86,205,141 (GRCm39) |
T205I |
probably benign |
Het |
| Pcdha12 |
T |
C |
18: 37,154,576 (GRCm39) |
S432P |
probably damaging |
Het |
| Prex1 |
A |
T |
2: 166,555,464 (GRCm39) |
Y59N |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,187,684 (GRCm39) |
F654L |
probably damaging |
Het |
| Sh2d5 |
T |
A |
4: 137,984,566 (GRCm39) |
Y187* |
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,640,195 (GRCm39) |
|
probably null |
Het |
| Smyd2 |
A |
G |
1: 189,629,623 (GRCm39) |
S136P |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,722,267 (GRCm39) |
K971R |
probably benign |
Het |
| Srsf11 |
A |
T |
3: 157,728,560 (GRCm39) |
L115* |
probably null |
Het |
| Unc5b |
A |
G |
10: 60,610,182 (GRCm39) |
V545A |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,642,998 (GRCm39) |
Y4120C |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,097,947 (GRCm39) |
W150R |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATAACCGGCTTCTGTGGG -3'
(R):5'- GATCCCTACACAGCTGTTTCTG -3'
Sequencing Primer
(F):5'- GAGGACCTCTCTAATTGCCTAAATGC -3'
(R):5'- TCTGACTTCTTTCAGACGGATG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation