Incidental Mutation 'R1218:Tbx5'
| ID |
99816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx5
|
| Ensembl Gene |
ENSMUSG00000018263 |
| Gene Name |
T-box 5 |
| Synonyms |
|
| MMRRC Submission |
039287-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.938)
|
| Stock # |
R1218 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
119970733-120023284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119976785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 58
(L58F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018407]
[ENSMUST00000202504]
[ENSMUST00000202723]
|
| AlphaFold |
P70326 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018407
AA Change: L58F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018407
Gene: ENSMUSG00000018263
AA Change: L58F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
45 |
N/A |
INTRINSIC |
|
TBOX
|
53 |
243 |
9.61e-129 |
SMART |
|
low complexity region
|
381 |
392 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202504
AA Change: L58F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143828
Gene: ENSMUSG00000018263
AA Change: L58F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
45 |
N/A |
INTRINSIC |
|
TBOX
|
53 |
218 |
6.3e-100 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202723
AA Change: L58F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144418
Gene: ENSMUSG00000018263
AA Change: L58F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
45 |
N/A |
INTRINSIC |
|
TBOX
|
53 |
120 |
3.1e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 97.9%
- 10x: 93.3%
- 20x: 80.5%
|
| 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 closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Heterozygous null mice exhibit strain-dependent perinatal lethality, forelimb and variable congenital heart malformations, whereas homozygous null mice are growth arrested and die by E10.5 of severe heart defects. Hypomorphic mutants show milder defects both in the hetero- and homozygous null state. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
T |
15: 81,948,353 (GRCm39) |
T750I |
probably benign |
Het |
| 5330417H12Rik |
T |
C |
7: 107,224,024 (GRCm39) |
|
probably benign |
Het |
| 9230109A22Rik |
C |
T |
15: 25,139,024 (GRCm39) |
|
noncoding transcript |
Het |
| Ahnak |
A |
G |
19: 8,992,983 (GRCm39) |
K4756E |
probably damaging |
Het |
| Ano5 |
A |
T |
7: 51,220,169 (GRCm39) |
|
probably null |
Het |
| Bmp6 |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
13: 38,530,226 (GRCm39) |
|
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cbfa2t2 |
A |
T |
2: 154,365,839 (GRCm39) |
M350L |
probably benign |
Het |
| Ceacam20 |
A |
T |
7: 19,710,022 (GRCm39) |
M349L |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,118,495 (GRCm39) |
V768A |
probably benign |
Het |
| Chd1 |
G |
T |
17: 15,945,574 (GRCm39) |
G33C |
probably damaging |
Het |
| Dhx40 |
A |
G |
11: 86,690,310 (GRCm39) |
V237A |
probably benign |
Het |
| Dlst |
G |
T |
12: 85,170,638 (GRCm39) |
D256Y |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,026,678 (GRCm39) |
S1929T |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,654,858 (GRCm39) |
I551N |
probably damaging |
Het |
| Faap100 |
T |
C |
11: 120,269,166 (GRCm39) |
D91G |
probably benign |
Het |
| Fbn1 |
T |
G |
2: 125,254,669 (GRCm39) |
Q198P |
possibly damaging |
Het |
| Flrt2 |
A |
G |
12: 95,745,727 (GRCm39) |
I22V |
probably benign |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| H2bc3 |
A |
G |
13: 23,931,142 (GRCm39) |
Y122C |
probably benign |
Het |
| Inava |
A |
T |
1: 136,142,140 (GRCm39) |
V653E |
probably damaging |
Het |
| Kcnn1 |
T |
C |
8: 71,305,332 (GRCm39) |
I293V |
probably benign |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Mcpt9 |
G |
T |
14: 56,266,125 (GRCm39) |
Y34* |
probably null |
Het |
| Mepe |
A |
T |
5: 104,474,939 (GRCm39) |
M7L |
probably benign |
Het |
| Mprip |
A |
G |
11: 59,634,640 (GRCm39) |
Y383C |
probably damaging |
Het |
| Mtrex |
G |
A |
13: 113,054,156 (GRCm39) |
A159V |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,083,351 (GRCm39) |
D1438V |
probably damaging |
Het |
| Napb |
T |
C |
2: 148,542,345 (GRCm39) |
Y205C |
probably damaging |
Het |
| Odf2l |
A |
G |
3: 144,854,693 (GRCm39) |
D510G |
probably damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,351 (GRCm39) |
D162G |
probably damaging |
Het |
| Oscp1 |
T |
C |
4: 125,952,532 (GRCm39) |
V20A |
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,214 (GRCm39) |
L430P |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,849,808 (GRCm39) |
D354G |
possibly damaging |
Het |
| Rims1 |
C |
A |
1: 22,522,256 (GRCm39) |
V481F |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,785,534 (GRCm39) |
I1719T |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,480,021 (GRCm39) |
H400R |
probably benign |
Het |
| Snx33 |
A |
G |
9: 56,833,269 (GRCm39) |
Y267H |
probably damaging |
Het |
| Sstr1 |
T |
A |
12: 58,260,406 (GRCm39) |
M343K |
possibly damaging |
Het |
| Stx6 |
T |
C |
1: 155,077,737 (GRCm39) |
V248A |
probably benign |
Het |
| Tmem241 |
A |
G |
18: 12,197,271 (GRCm39) |
Y186H |
probably damaging |
Het |
| Tnfaip8l3 |
T |
C |
9: 53,934,760 (GRCm39) |
K72E |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,753,219 (GRCm39) |
I1848N |
probably damaging |
Het |
| Xrcc6 |
G |
A |
15: 81,907,142 (GRCm39) |
V155I |
probably benign |
Het |
| Zfp458 |
T |
C |
13: 67,404,273 (GRCm39) |
E722G |
probably damaging |
Het |
| Zfyve1 |
G |
T |
12: 83,594,825 (GRCm39) |
H722Q |
possibly damaging |
Het |
|
| Other mutations in Tbx5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01096:Tbx5
|
APN |
5 |
120,021,091 (GRCm39) |
missense |
probably benign |
|
|
IGL01595:Tbx5
|
APN |
5 |
119,978,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01758:Tbx5
|
APN |
5 |
119,983,023 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02239:Tbx5
|
APN |
5 |
120,009,345 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02625:Tbx5
|
APN |
5 |
119,974,972 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03326:Tbx5
|
APN |
5 |
120,009,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0477:Tbx5
|
UTSW |
5 |
120,021,184 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0485:Tbx5
|
UTSW |
5 |
120,021,523 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1756:Tbx5
|
UTSW |
5 |
119,983,178 (GRCm39) |
splice site |
probably null |
|
|
R2011:Tbx5
|
UTSW |
5 |
119,979,971 (GRCm39) |
splice site |
probably null |
|
|
R2125:Tbx5
|
UTSW |
5 |
119,974,988 (GRCm39) |
missense |
probably benign |
|
|
R2126:Tbx5
|
UTSW |
5 |
119,974,988 (GRCm39) |
missense |
probably benign |
|
|
R2268:Tbx5
|
UTSW |
5 |
119,983,174 (GRCm39) |
splice site |
probably null |
|
|
R2302:Tbx5
|
UTSW |
5 |
119,979,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4693:Tbx5
|
UTSW |
5 |
119,979,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4930:Tbx5
|
UTSW |
5 |
120,021,090 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5062:Tbx5
|
UTSW |
5 |
119,974,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5245:Tbx5
|
UTSW |
5 |
120,021,230 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6067:Tbx5
|
UTSW |
5 |
120,021,211 (GRCm39) |
missense |
probably benign |
|
|
R6079:Tbx5
|
UTSW |
5 |
120,021,211 (GRCm39) |
missense |
probably benign |
|
|
R6138:Tbx5
|
UTSW |
5 |
120,021,211 (GRCm39) |
missense |
probably benign |
|
|
R6218:Tbx5
|
UTSW |
5 |
119,991,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6528:Tbx5
|
UTSW |
5 |
120,021,176 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6700:Tbx5
|
UTSW |
5 |
120,009,462 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6993:Tbx5
|
UTSW |
5 |
120,009,454 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7777:Tbx5
|
UTSW |
5 |
120,021,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7801:Tbx5
|
UTSW |
5 |
119,975,064 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8056:Tbx5
|
UTSW |
5 |
119,991,678 (GRCm39) |
missense |
probably benign |
|
|
R8772:Tbx5
|
UTSW |
5 |
119,976,790 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9706:Tbx5
|
UTSW |
5 |
119,979,909 (GRCm39) |
missense |
probably benign |
0.42 |
|
U15987:Tbx5
|
UTSW |
5 |
120,021,211 (GRCm39) |
missense |
probably benign |
|
|
X0028:Tbx5
|
UTSW |
5 |
119,983,184 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Tbx5
|
UTSW |
5 |
120,021,380 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGGACTGAGATGCTGCTGGACG -3'
(R):5'- GCGGAGGACTCTTTAGCCAGAATG -3'
Sequencing Primer
(F):5'- ATGGGTCGCCCTAGACTTTC -3'
(R):5'- TCTTTAGCCAGAATGAACCCTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation