Incidental Mutation 'IGL03380:Tbx4'
| ID |
420659 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbx4
|
| Ensembl Gene |
ENSMUSG00000000094 |
| Gene Name |
T-box 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03380
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
85777248-85806923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85805465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 418
(N418S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000096]
[ENSMUST00000108045]
[ENSMUST00000108047]
|
| AlphaFold |
P70325 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000096
AA Change: N518S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000000096
Gene: ENSMUSG00000000094
AA Change: N518S
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
71 |
261 |
1.15e-126 |
SMART |
|
Blast:TBOX
|
302 |
495 |
1e-122 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108045
AA Change: N418S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000103680
Gene: ENSMUSG00000000094
AA Change: N418S
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
1 |
161 |
5e-86 |
SMART |
|
Blast:TBOX
|
202 |
395 |
1e-122 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108047
AA Change: N518S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000103682
Gene: ENSMUSG00000000094
AA Change: N518S
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
71 |
261 |
1.15e-126 |
SMART |
|
Blast:TBOX
|
302 |
495 |
1e-122 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit stunted, apoptotic allantoises lacking vascular remodeling, fail to undergo chorioallantoic fusion, lack hindlimb buds, and die by embryonic day 10.5. Heterozygotes show mildly impaired allantois growth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,248,574 (GRCm39) |
N2774D |
probably benign |
Het |
| Aldh1a2 |
T |
G |
9: 71,162,399 (GRCm39) |
Y149* |
probably null |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,343,344 (GRCm39) |
D542G |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,889,529 (GRCm39) |
E582G |
probably benign |
Het |
| C4b |
A |
T |
17: 34,959,260 (GRCm39) |
V438D |
probably benign |
Het |
| Caps2 |
A |
G |
10: 112,036,601 (GRCm39) |
E345G |
probably benign |
Het |
| Cdk19 |
C |
T |
10: 40,352,908 (GRCm39) |
P308L |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,268,731 (GRCm39) |
E307G |
probably benign |
Het |
| Dst |
G |
A |
1: 34,296,881 (GRCm39) |
A1041T |
probably damaging |
Het |
| Elp2 |
T |
C |
18: 24,755,537 (GRCm39) |
V428A |
probably benign |
Het |
| Eml5 |
G |
T |
12: 98,840,906 (GRCm39) |
|
probably benign |
Het |
| Fam120b |
G |
A |
17: 15,623,396 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs6 |
G |
A |
17: 20,403,245 (GRCm39) |
L39F |
possibly damaging |
Het |
| Fsd1 |
T |
C |
17: 56,302,456 (GRCm39) |
I300T |
probably benign |
Het |
| Hsd17b6 |
T |
C |
10: 127,830,207 (GRCm39) |
|
probably null |
Het |
| Hspa1a |
T |
C |
17: 35,189,253 (GRCm39) |
K550R |
probably benign |
Het |
| Krba1 |
A |
G |
6: 48,380,387 (GRCm39) |
H37R |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 26,926,261 (GRCm39) |
D2117G |
probably damaging |
Het |
| Map4k2 |
T |
C |
19: 6,394,620 (GRCm39) |
F332S |
possibly damaging |
Het |
| Mindy1 |
T |
C |
3: 95,198,329 (GRCm39) |
|
probably benign |
Het |
| Nhsl1 |
T |
G |
10: 18,399,627 (GRCm39) |
Y284* |
probably null |
Het |
| Or5b109 |
T |
A |
19: 13,212,365 (GRCm39) |
F250L |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,270,894 (GRCm39) |
T3220S |
probably damaging |
Het |
| Pramel7 |
A |
T |
2: 87,321,716 (GRCm39) |
D106E |
probably benign |
Het |
| Psme3 |
T |
C |
11: 101,210,852 (GRCm39) |
|
probably null |
Het |
| Rsph1 |
T |
C |
17: 31,496,210 (GRCm39) |
E7G |
unknown |
Het |
| Slc13a2 |
T |
C |
11: 78,289,908 (GRCm39) |
T469A |
probably benign |
Het |
| Slc30a9 |
C |
T |
5: 67,473,054 (GRCm39) |
T46I |
probably benign |
Het |
| Slc37a4 |
T |
G |
9: 44,311,320 (GRCm39) |
S204A |
probably benign |
Het |
| Slc8b1 |
T |
C |
5: 120,657,800 (GRCm39) |
F88L |
probably damaging |
Het |
| Smpd3 |
C |
T |
8: 106,986,291 (GRCm39) |
V504I |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,613,506 (GRCm39) |
T470A |
probably benign |
Het |
| Tmem207 |
A |
T |
16: 26,345,407 (GRCm39) |
C20S |
probably damaging |
Het |
| Usp43 |
G |
A |
11: 67,766,142 (GRCm39) |
A761V |
possibly damaging |
Het |
| Vmn1r191 |
C |
T |
13: 22,363,055 (GRCm39) |
S233N |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,874 (GRCm39) |
E256D |
probably benign |
Het |
| Zc3hav1 |
T |
C |
6: 38,313,493 (GRCm39) |
Y184C |
probably damaging |
Het |
|
| Other mutations in Tbx4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01722:Tbx4
|
APN |
11 |
85,802,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02113:Tbx4
|
APN |
11 |
85,803,090 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02172:Tbx4
|
APN |
11 |
85,805,389 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02440:Tbx4
|
APN |
11 |
85,781,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02889:Tbx4
|
APN |
11 |
85,790,621 (GRCm39) |
nonsense |
probably null |
|
|
R0332:Tbx4
|
UTSW |
11 |
85,789,356 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1772:Tbx4
|
UTSW |
11 |
85,802,033 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1829:Tbx4
|
UTSW |
11 |
85,802,746 (GRCm39) |
splice site |
probably null |
|
|
R1907:Tbx4
|
UTSW |
11 |
85,805,349 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4470:Tbx4
|
UTSW |
11 |
85,802,948 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5484:Tbx4
|
UTSW |
11 |
85,805,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5540:Tbx4
|
UTSW |
11 |
85,801,994 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6962:Tbx4
|
UTSW |
11 |
85,781,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7355:Tbx4
|
UTSW |
11 |
85,802,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8017:Tbx4
|
UTSW |
11 |
85,804,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8019:Tbx4
|
UTSW |
11 |
85,804,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8172:Tbx4
|
UTSW |
11 |
85,801,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8374:Tbx4
|
UTSW |
11 |
85,805,102 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9641:Tbx4
|
UTSW |
11 |
85,803,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Tbx4
|
UTSW |
11 |
85,805,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation