Incidental Mutation 'R8351:Tbx3'
| ID |
660478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx3
|
| Ensembl Gene |
ENSMUSG00000018604 |
| Gene Name |
T-box 3 |
| Synonyms |
D5Ertd189e |
| MMRRC Submission |
067804-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8351 (G1)
|
| Quality Score |
175.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
119808734-119822789 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119818841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 472
(L472Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018748]
[ENSMUST00000079719]
[ENSMUST00000121021]
|
| AlphaFold |
P70324 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018748
AA Change: L492Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018748
Gene: ENSMUSG00000018604
AA Change: L492Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
63 |
N/A |
INTRINSIC |
|
TBOX
|
102 |
310 |
6.4e-125 |
SMART |
|
Pfam:TBX
|
323 |
411 |
8.8e-29 |
PFAM |
|
low complexity region
|
492 |
510 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
556 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
620 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
710 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079719
AA Change: L472Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078657
Gene: ENSMUSG00000018604
AA Change: L472Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
63 |
N/A |
INTRINSIC |
|
TBOX
|
102 |
290 |
1.01e-127 |
SMART |
|
Pfam:TBX
|
303 |
391 |
6.5e-29 |
PFAM |
|
low complexity region
|
472 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
690 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121021
AA Change: L472Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112519
Gene: ENSMUSG00000018604
AA Change: L472Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
63 |
N/A |
INTRINSIC |
|
TBOX
|
102 |
290 |
1.01e-127 |
SMART |
|
Pfam:TBX
|
303 |
391 |
6.5e-29 |
PFAM |
|
low complexity region
|
472 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
690 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (41/41) |
| 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 protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die are embryonic lethal exhibiting defects in the yolk sac and limb defects. Female embryos show impaired mammary bud induction. Mice homozygous for hypomorphic alleles exhibit varying degrees of prenatal lethality and premature death, heart defects and limb abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat3 |
A |
T |
10: 78,110,086 (GRCm39) |
Y288N |
probably damaging |
Het |
| Ano5 |
A |
G |
7: 51,203,626 (GRCm39) |
K225E |
probably benign |
Het |
| Apob |
A |
G |
12: 8,056,356 (GRCm39) |
T1613A |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,725,693 (GRCm39) |
T2139A |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,386,172 (GRCm39) |
|
probably null |
Het |
| Atp23 |
C |
T |
10: 126,723,407 (GRCm39) |
A232T |
probably damaging |
Het |
| Cd8b1 |
G |
A |
6: 71,306,777 (GRCm39) |
|
probably null |
Het |
| Cep295 |
G |
A |
9: 15,234,202 (GRCm39) |
T2198I |
probably damaging |
Het |
| Col12a1 |
G |
T |
9: 79,588,694 (GRCm39) |
N1140K |
probably damaging |
Het |
| Cyp2f2 |
A |
G |
7: 26,821,294 (GRCm39) |
Y69C |
probably damaging |
Het |
| Ep400 |
C |
T |
5: 110,887,200 (GRCm39) |
A628T |
probably damaging |
Het |
| Faxc |
A |
T |
4: 21,932,046 (GRCm39) |
|
probably null |
Het |
| Fpr3 |
T |
C |
17: 18,191,436 (GRCm39) |
S236P |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,822,239 (GRCm39) |
S5991P |
possibly damaging |
Het |
| Gm3099 |
A |
T |
14: 15,345,347 (GRCm39) |
N58Y |
probably damaging |
Het |
| Gmps |
T |
C |
3: 63,887,615 (GRCm39) |
V29A |
probably benign |
Het |
| Gnptab |
T |
G |
10: 88,250,348 (GRCm39) |
D153E |
probably benign |
Het |
| Kcnh6 |
A |
G |
11: 105,911,062 (GRCm39) |
H486R |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,673,670 (GRCm39) |
Y2571H |
probably damaging |
Het |
| Lama5 |
C |
T |
2: 179,837,401 (GRCm39) |
V995M |
probably damaging |
Het |
| Lrrc43 |
A |
G |
5: 123,632,328 (GRCm39) |
N157S |
probably damaging |
Het |
| Mbtps1 |
G |
A |
8: 120,272,923 (GRCm39) |
S74L |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,571,181 (GRCm39) |
V446D |
unknown |
Het |
| Ncapg2 |
T |
C |
12: 116,403,647 (GRCm39) |
V853A |
possibly damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,476 (GRCm39) |
S76P |
probably benign |
Het |
| Nuak1 |
T |
C |
10: 84,229,981 (GRCm39) |
I131V |
probably damaging |
Het |
| Nup50l |
A |
C |
6: 96,142,655 (GRCm39) |
S130A |
probably benign |
Het |
| Oas1e |
A |
T |
5: 120,925,008 (GRCm39) |
|
probably null |
Het |
| Or1n2 |
T |
C |
2: 36,797,149 (GRCm39) |
F64L |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,542,128 (GRCm39) |
|
probably null |
Het |
| Plin4 |
T |
C |
17: 56,413,861 (GRCm39) |
T255A |
probably benign |
Het |
| Pygm |
A |
G |
19: 6,438,117 (GRCm39) |
T141A |
possibly damaging |
Het |
| Rps2 |
T |
A |
17: 24,939,334 (GRCm39) |
|
probably benign |
Het |
| Rptor |
A |
G |
11: 119,783,465 (GRCm39) |
D1153G |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,814,718 (GRCm39) |
F685L |
probably damaging |
Het |
| Slc22a17 |
A |
G |
14: 55,146,051 (GRCm39) |
I356T |
probably benign |
Het |
| Slc29a4 |
T |
G |
5: 142,703,584 (GRCm39) |
I286S |
probably benign |
Het |
| Swap70 |
T |
C |
7: 109,821,105 (GRCm39) |
S30P |
possibly damaging |
Het |
| Tbc1d10c |
A |
G |
19: 4,234,744 (GRCm39) |
F439S |
probably damaging |
Het |
| Tbxas1 |
A |
G |
6: 39,004,850 (GRCm39) |
R366G |
possibly damaging |
Het |
| Ttll8 |
T |
C |
15: 88,798,638 (GRCm39) |
D699G |
probably benign |
Het |
| Vmn1r128 |
A |
T |
7: 21,083,597 (GRCm39) |
R100S |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,698,931 (GRCm39) |
D570G |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,575 (GRCm39) |
S450P |
probably damaging |
Het |
|
| Other mutations in Tbx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01960:Tbx3
|
APN |
5 |
119,820,708 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02174:Tbx3
|
APN |
5 |
119,813,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL02508:Tbx3
|
APN |
5 |
119,816,877 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03035:Tbx3
|
APN |
5 |
119,821,161 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0047:Tbx3
|
UTSW |
5 |
119,818,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0184:Tbx3
|
UTSW |
5 |
119,813,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Tbx3
|
UTSW |
5 |
119,813,315 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1209:Tbx3
|
UTSW |
5 |
119,819,018 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1956:Tbx3
|
UTSW |
5 |
119,819,018 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2231:Tbx3
|
UTSW |
5 |
119,815,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Tbx3
|
UTSW |
5 |
119,818,813 (GRCm39) |
missense |
probably benign |
|
|
R4400:Tbx3
|
UTSW |
5 |
119,818,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4578:Tbx3
|
UTSW |
5 |
119,820,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4693:Tbx3
|
UTSW |
5 |
119,815,635 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4716:Tbx3
|
UTSW |
5 |
119,813,735 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4804:Tbx3
|
UTSW |
5 |
119,818,577 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5664:Tbx3
|
UTSW |
5 |
119,816,796 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5724:Tbx3
|
UTSW |
5 |
119,813,668 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5990:Tbx3
|
UTSW |
5 |
119,818,594 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6133:Tbx3
|
UTSW |
5 |
119,819,018 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6180:Tbx3
|
UTSW |
5 |
119,812,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6429:Tbx3
|
UTSW |
5 |
119,812,256 (GRCm39) |
nonsense |
probably null |
|
|
R7154:Tbx3
|
UTSW |
5 |
119,810,093 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7195:Tbx3
|
UTSW |
5 |
119,813,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7352:Tbx3
|
UTSW |
5 |
119,815,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7921:Tbx3
|
UTSW |
5 |
119,818,935 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7921:Tbx3
|
UTSW |
5 |
119,818,934 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8050:Tbx3
|
UTSW |
5 |
119,821,132 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8089:Tbx3
|
UTSW |
5 |
119,818,634 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8422:Tbx3
|
UTSW |
5 |
119,818,581 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8885:Tbx3
|
UTSW |
5 |
119,818,624 (GRCm39) |
missense |
probably benign |
|
|
R8891:Tbx3
|
UTSW |
5 |
119,809,983 (GRCm39) |
start gained |
probably benign |
|
|
R8987:Tbx3
|
UTSW |
5 |
119,818,886 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9240:Tbx3
|
UTSW |
5 |
119,818,960 (GRCm39) |
missense |
probably benign |
|
|
X0063:Tbx3
|
UTSW |
5 |
119,818,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTTCCACCACTACGGC -3'
(R):5'- CTGTGGATTCTAGGCCTGAG -3'
Sequencing Primer
(F):5'- GTCTGGACAAGGCATCGC -3'
(R):5'- TGAGACGCCGGTGGATG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation