Incidental Mutation 'R6133:Tbx3'
| ID |
487230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx3
|
| Ensembl Gene |
ENSMUSG00000018604 |
| Gene Name |
T-box 3 |
| Synonyms |
D5Ertd189e |
| MMRRC Submission |
044280-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6133 (G1)
|
| Quality Score |
135.008 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
119808734-119822789 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119819018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 531
(V531A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018748]
[ENSMUST00000079719]
[ENSMUST00000121021]
|
| AlphaFold |
P70324 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018748
AA Change: V551A
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000018748
Gene: ENSMUSG00000018604
AA Change: V551A
| 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 benign
Transcript: ENSMUST00000079719
AA Change: V531A
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078657
Gene: ENSMUSG00000018604
AA Change: V531A
| 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 benign
Transcript: ENSMUST00000121021
AA Change: V531A
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112519
Gene: ENSMUSG00000018604
AA Change: V531A
| 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 |
noncoding transcript
Transcript: ENSMUST00000135385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145647
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154680
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (47/47) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
A |
G |
8: 89,052,067 (GRCm39) |
T912A |
possibly damaging |
Het |
| Akap12 |
G |
T |
10: 4,305,178 (GRCm39) |
G663C |
probably benign |
Het |
| Ankhd1 |
T |
C |
18: 36,758,179 (GRCm39) |
S958P |
possibly damaging |
Het |
| Cmtm2a |
T |
C |
8: 105,019,362 (GRCm39) |
I76V |
probably benign |
Het |
| Cpxm2 |
G |
A |
7: 131,730,182 (GRCm39) |
P146S |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,313,429 (GRCm39) |
V3047A |
probably benign |
Het |
| Dgkd |
T |
A |
1: 87,865,962 (GRCm39) |
V198E |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,685,469 (GRCm39) |
M181K |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,458,814 (GRCm39) |
T3775A |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,723,146 (GRCm39) |
I391V |
probably benign |
Het |
| Ebi3 |
T |
A |
17: 56,261,311 (GRCm39) |
V69E |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,636,886 (GRCm39) |
T1998A |
probably damaging |
Het |
| Frmpd1 |
T |
A |
4: 45,284,915 (GRCm39) |
H1245Q |
probably benign |
Het |
| Gm7145 |
T |
A |
1: 117,913,618 (GRCm39) |
C167S |
probably damaging |
Het |
| Hydin |
C |
T |
8: 111,327,908 (GRCm39) |
T4805I |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 24,053,936 (GRCm39) |
M21I |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,890,574 (GRCm39) |
D621G |
probably benign |
Het |
| Lrrc15 |
C |
T |
16: 30,093,054 (GRCm39) |
G95D |
probably benign |
Het |
| Mex3d |
A |
G |
10: 80,222,620 (GRCm39) |
L212P |
probably damaging |
Het |
| Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,581,151 (GRCm39) |
V32A |
probably benign |
Het |
| Nsl1 |
T |
C |
1: 190,803,403 (GRCm39) |
L158P |
probably damaging |
Het |
| Or51q1c |
A |
T |
7: 103,652,532 (GRCm39) |
T17S |
possibly damaging |
Het |
| Or6c202 |
G |
A |
10: 128,996,752 (GRCm39) |
L34F |
possibly damaging |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Pakap |
C |
T |
4: 57,855,516 (GRCm39) |
Q525* |
probably null |
Het |
| Pcdh15 |
A |
T |
10: 74,481,805 (GRCm39) |
|
probably null |
Het |
| Pramel15 |
T |
C |
4: 144,104,347 (GRCm39) |
R53G |
possibly damaging |
Het |
| Ptpn1 |
T |
C |
2: 167,809,716 (GRCm39) |
V108A |
possibly damaging |
Het |
| Rad9b |
T |
C |
5: 122,477,831 (GRCm39) |
N182D |
possibly damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,267,545 (GRCm39) |
P1044S |
probably damaging |
Het |
| Scn2a |
G |
A |
2: 65,573,448 (GRCm39) |
V1433I |
probably benign |
Het |
| Ssrp1 |
T |
G |
2: 84,875,683 (GRCm39) |
|
probably benign |
Het |
| Suco |
T |
A |
1: 161,662,752 (GRCm39) |
K560* |
probably null |
Het |
| Tmem30c |
T |
C |
16: 57,098,100 (GRCm39) |
Y107C |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,188,963 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
A |
T |
7: 142,642,688 (GRCm39) |
D86E |
probably damaging |
Het |
| Urb2 |
C |
T |
8: 124,755,300 (GRCm39) |
Q336* |
probably null |
Het |
| Vmn2r43 |
A |
G |
7: 8,247,970 (GRCm39) |
F731S |
probably damaging |
Het |
| Xkr9 |
A |
G |
1: 13,754,359 (GRCm39) |
T118A |
probably benign |
Het |
| Zcchc2 |
A |
C |
1: 105,947,609 (GRCm39) |
K117N |
probably damaging |
Het |
| Zfp52 |
T |
C |
17: 21,780,733 (GRCm39) |
Y194H |
probably damaging |
Het |
| Zfp763 |
C |
T |
17: 33,237,675 (GRCm39) |
C490Y |
possibly damaging |
Het |
| Zmynd19 |
G |
T |
2: 24,848,131 (GRCm39) |
R148L |
possibly 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 |
|
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 |
|
R8351:Tbx3
|
UTSW |
5 |
119,818,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCTAACACTCCTAGTCAAGGGAC -3'
Sequencing Primer
(F):5'- AGTTCCGGGAGCTGATGAGC -3'
(R):5'- ACTGGGACTGAGGCTGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation