Incidental Mutation 'R6596:Tbx15'
| ID |
525960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx15
|
| Ensembl Gene |
ENSMUSG00000027868 |
| Gene Name |
T-box 15 |
| Synonyms |
Tbx8, de, Tbx14 |
| MMRRC Submission |
044720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R6596 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
99147697-99261575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99259508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 460
(S460G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029462]
|
| AlphaFold |
O70306 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029462
AA Change: S460G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: S460G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
TBOX
|
112 |
309 |
8.05e-131 |
SMART |
|
Blast:TBOX
|
310 |
482 |
8e-83 |
BLAST |
|
low complexity region
|
486 |
492 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutants have low set ears that project laterally, skeletal abnormalities and distinctive dorsoventral coat color patterning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
T |
A |
9: 101,819,984 (GRCm39) |
C135S |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
| Cldn15 |
T |
A |
5: 137,003,533 (GRCm39) |
C178* |
probably null |
Het |
| Col7a1 |
C |
A |
9: 108,783,409 (GRCm39) |
|
probably benign |
Het |
| Crnn |
G |
A |
3: 93,054,182 (GRCm39) |
E22K |
probably damaging |
Het |
| Dcstamp |
A |
C |
15: 39,617,605 (GRCm39) |
T5P |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,759,702 (GRCm39) |
Y269C |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,403,581 (GRCm39) |
|
probably null |
Het |
| Duox2 |
C |
T |
2: 122,115,819 (GRCm39) |
V972I |
probably benign |
Het |
| Eif1ad15 |
C |
A |
12: 88,288,057 (GRCm39) |
L65F |
possibly damaging |
Het |
| Ephb1 |
A |
C |
9: 102,072,001 (GRCm39) |
Y259* |
probably null |
Het |
| Fam149a |
G |
T |
8: 45,834,667 (GRCm39) |
T44K |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,648,641 (GRCm39) |
Y1423H |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,281,796 (GRCm39) |
I187F |
probably damaging |
Het |
| Gfm2 |
C |
T |
13: 97,301,657 (GRCm39) |
P487S |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,052 (GRCm39) |
E625G |
probably benign |
Het |
| Kmt5a |
G |
A |
5: 124,588,759 (GRCm39) |
V121M |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,201,001 (GRCm39) |
S229P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,478,011 (GRCm39) |
D7098G |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,801,283 (GRCm39) |
I244N |
probably damaging |
Het |
| Obox1 |
C |
T |
7: 15,289,301 (GRCm39) |
S72L |
probably damaging |
Het |
| Or4b1 |
T |
A |
2: 89,979,622 (GRCm39) |
T243S |
possibly damaging |
Het |
| Or5d38 |
C |
T |
2: 87,954,543 (GRCm39) |
C262Y |
probably damaging |
Het |
| Pcdhb7 |
A |
T |
18: 37,476,414 (GRCm39) |
I517F |
probably damaging |
Het |
| Plk2 |
C |
T |
13: 110,534,296 (GRCm39) |
A292V |
probably benign |
Het |
| Pomgnt2 |
T |
C |
9: 121,811,320 (GRCm39) |
E487G |
possibly damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,894,847 (GRCm39) |
N1089I |
possibly damaging |
Het |
| Robo2 |
T |
A |
16: 73,767,996 (GRCm39) |
N603Y |
probably damaging |
Het |
| Slc35f4 |
G |
A |
14: 49,763,057 (GRCm39) |
A5V |
probably damaging |
Het |
| Smc4 |
A |
T |
3: 68,933,226 (GRCm39) |
I616F |
probably damaging |
Het |
| Sorl1 |
T |
G |
9: 41,912,899 (GRCm39) |
N1361H |
possibly damaging |
Het |
| Syngr1 |
C |
T |
15: 79,995,893 (GRCm39) |
T144M |
probably damaging |
Het |
| Tbc1d16 |
A |
C |
11: 119,048,601 (GRCm39) |
W351G |
probably damaging |
Het |
| Tns2 |
G |
A |
15: 102,018,994 (GRCm39) |
R395Q |
probably benign |
Het |
| Tpte |
T |
C |
8: 22,823,285 (GRCm39) |
L304P |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,456,382 (GRCm39) |
F325I |
probably benign |
Het |
| Ucp3 |
A |
T |
7: 100,131,140 (GRCm39) |
I198F |
probably benign |
Het |
| Vit |
T |
C |
17: 78,930,274 (GRCm39) |
V413A |
probably benign |
Het |
| Xrcc6 |
T |
C |
15: 81,907,155 (GRCm39) |
M1T |
probably null |
Het |
|
| Other mutations in Tbx15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Tbx15
|
APN |
3 |
99,223,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01458:Tbx15
|
APN |
3 |
99,223,544 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01633:Tbx15
|
APN |
3 |
99,220,358 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02338:Tbx15
|
APN |
3 |
99,259,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02415:Tbx15
|
APN |
3 |
99,259,826 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03143:Tbx15
|
APN |
3 |
99,259,514 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03201:Tbx15
|
APN |
3 |
99,259,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
shin_guard
|
UTSW |
3 |
99,259,508 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Shortcut
|
UTSW |
3 |
99,220,389 (GRCm39) |
nonsense |
probably null |
|
|
R0012:Tbx15
|
UTSW |
3 |
99,259,412 (GRCm39) |
missense |
probably benign |
|
|
R0109:Tbx15
|
UTSW |
3 |
99,259,182 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0277:Tbx15
|
UTSW |
3 |
99,259,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Tbx15
|
UTSW |
3 |
99,223,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1134:Tbx15
|
UTSW |
3 |
99,223,639 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1347:Tbx15
|
UTSW |
3 |
99,259,427 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1347:Tbx15
|
UTSW |
3 |
99,259,427 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1506:Tbx15
|
UTSW |
3 |
99,259,228 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1681:Tbx15
|
UTSW |
3 |
99,259,140 (GRCm39) |
splice site |
probably null |
|
|
R1762:Tbx15
|
UTSW |
3 |
99,259,260 (GRCm39) |
nonsense |
probably null |
|
|
R1789:Tbx15
|
UTSW |
3 |
99,259,562 (GRCm39) |
nonsense |
probably null |
|
|
R2167:Tbx15
|
UTSW |
3 |
99,233,771 (GRCm39) |
splice site |
probably benign |
|
|
R2254:Tbx15
|
UTSW |
3 |
99,259,190 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2357:Tbx15
|
UTSW |
3 |
99,223,672 (GRCm39) |
splice site |
probably null |
|
|
R2441:Tbx15
|
UTSW |
3 |
99,259,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3010:Tbx15
|
UTSW |
3 |
99,161,209 (GRCm39) |
intron |
probably benign |
|
|
R3118:Tbx15
|
UTSW |
3 |
99,259,470 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4081:Tbx15
|
UTSW |
3 |
99,220,370 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4610:Tbx15
|
UTSW |
3 |
99,259,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Tbx15
|
UTSW |
3 |
99,259,583 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4950:Tbx15
|
UTSW |
3 |
99,233,700 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4982:Tbx15
|
UTSW |
3 |
99,161,390 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4999:Tbx15
|
UTSW |
3 |
99,223,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5236:Tbx15
|
UTSW |
3 |
99,259,362 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5339:Tbx15
|
UTSW |
3 |
99,223,600 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5364:Tbx15
|
UTSW |
3 |
99,259,508 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5493:Tbx15
|
UTSW |
3 |
99,259,880 (GRCm39) |
missense |
probably benign |
|
|
R5690:Tbx15
|
UTSW |
3 |
99,216,166 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5756:Tbx15
|
UTSW |
3 |
99,220,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Tbx15
|
UTSW |
3 |
99,259,833 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6032:Tbx15
|
UTSW |
3 |
99,259,833 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6156:Tbx15
|
UTSW |
3 |
99,220,431 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6173:Tbx15
|
UTSW |
3 |
99,161,203 (GRCm39) |
nonsense |
probably null |
|
|
R6680:Tbx15
|
UTSW |
3 |
99,220,389 (GRCm39) |
nonsense |
probably null |
|
|
R6931:Tbx15
|
UTSW |
3 |
99,259,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8129:Tbx15
|
UTSW |
3 |
99,161,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8155:Tbx15
|
UTSW |
3 |
99,259,886 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8230:Tbx15
|
UTSW |
3 |
99,259,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8729:Tbx15
|
UTSW |
3 |
99,220,376 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8929:Tbx15
|
UTSW |
3 |
99,222,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9038:Tbx15
|
UTSW |
3 |
99,222,085 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9688:Tbx15
|
UTSW |
3 |
99,233,708 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9746:Tbx15
|
UTSW |
3 |
99,259,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Tbx15
|
UTSW |
3 |
99,222,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTATCCACCATGTGCCCG -3'
(R):5'- TTCTCTGGGCTTGCAGCTAG -3'
Sequencing Primer
(F):5'- GAAGCAACATGGCTGCCTTAC -3'
(R):5'- GGGGAAATTGTATCCATACAGATTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation