Incidental Mutation 'IGL01597:Tbx10'
| ID |
91720 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbx10
|
| Ensembl Gene |
ENSMUSG00000037477 |
| Gene Name |
T-box 10 |
| Synonyms |
Tbx13, Tbx7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
IGL01597
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4042752-4049512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4046736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 72
(K72R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025802]
[ENSMUST00000041871]
[ENSMUST00000122924]
[ENSMUST00000155405]
|
| AlphaFold |
Q810F8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025802
|
| SMART Domains |
Protein: ENSMUSP00000025802
Gene: ENSMUSG00000110949
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
26 |
160 |
2.8e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041871
AA Change: K72R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000037401
Gene: ENSMUSG00000037477
AA Change: K72R
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
64 |
257 |
9.2e-117 |
SMART |
|
low complexity region
|
309 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
351 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122924
|
| SMART Domains |
Protein: ENSMUSP00000122531
Gene: ENSMUSG00000110949
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
19 |
117 |
3.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155405
|
| SMART Domains |
Protein: ENSMUSP00000119218
Gene: ENSMUSG00000024869
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
29 |
159 |
8.1e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156285
|
| 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 encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a gain of function mutation die perinatally with cleft lip and cleft palate; heterozygotes show penetrance and strain effects - they generally circle and head-toss, but are not deaf, lack the macula of utriculus and show defects of the labyrinths in the vestibular region. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted(5) Spontaneous(1)
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d1 |
A |
T |
5: 16,531,390 (GRCm39) |
|
probably benign |
Het |
| Cdk12 |
A |
G |
11: 98,141,090 (GRCm39) |
|
probably benign |
Het |
| Ces1e |
T |
A |
8: 93,937,001 (GRCm39) |
I357F |
probably benign |
Het |
| Dicer1 |
G |
A |
12: 104,671,469 (GRCm39) |
R934* |
probably null |
Het |
| Dnah9 |
A |
T |
11: 66,009,656 (GRCm39) |
Y744N |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,964,910 (GRCm39) |
I381N |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,939,691 (GRCm39) |
D147G |
probably damaging |
Het |
| Gpsm2 |
A |
T |
3: 108,604,303 (GRCm39) |
M385K |
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,025,118 (GRCm39) |
Q2311* |
probably null |
Het |
| Or51ah3 |
A |
G |
7: 103,210,349 (GRCm39) |
I222V |
possibly damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,303 (GRCm39) |
V213A |
probably benign |
Het |
| Or5c1 |
A |
C |
2: 37,222,023 (GRCm39) |
D88A |
possibly damaging |
Het |
| Or7e173 |
A |
T |
9: 19,938,982 (GRCm39) |
M84K |
probably damaging |
Het |
| Papss2 |
G |
A |
19: 32,615,658 (GRCm39) |
R130H |
probably damaging |
Het |
| Pik3r5 |
A |
T |
11: 68,386,827 (GRCm39) |
I819F |
probably damaging |
Het |
| Pipox |
A |
G |
11: 77,774,019 (GRCm39) |
V199A |
probably damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,350,153 (GRCm39) |
V333L |
probably benign |
Het |
| Rbl1 |
A |
G |
2: 157,037,369 (GRCm39) |
|
probably benign |
Het |
| Scyl2 |
T |
A |
10: 89,488,849 (GRCm39) |
I489F |
probably damaging |
Het |
| Serinc4 |
T |
A |
2: 121,285,472 (GRCm39) |
L100F |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,439,120 (GRCm39) |
F458Y |
possibly damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,080,652 (GRCm39) |
|
probably benign |
Het |
| Syngr4 |
T |
C |
7: 45,536,390 (GRCm39) |
T211A |
probably benign |
Het |
| Taar8a |
T |
C |
10: 23,952,756 (GRCm39) |
L120P |
possibly damaging |
Het |
| Tomm70a |
A |
G |
16: 56,953,551 (GRCm39) |
T149A |
probably benign |
Het |
| Traip |
T |
A |
9: 107,833,123 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
G |
A |
19: 22,692,610 (GRCm39) |
G234R |
probably damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,456,580 (GRCm39) |
|
probably benign |
Het |
| Vstm5 |
T |
C |
9: 15,168,675 (GRCm39) |
W80R |
probably damaging |
Het |
| Vwa5a |
A |
T |
9: 38,645,161 (GRCm39) |
R415S |
probably damaging |
Het |
| Zfp39 |
A |
G |
11: 58,782,369 (GRCm39) |
V131A |
probably damaging |
Het |
|
| Other mutations in Tbx10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01527:Tbx10
|
APN |
19 |
4,048,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02006:Tbx10
|
APN |
19 |
4,048,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03294:Tbx10
|
APN |
19 |
4,048,571 (GRCm39) |
unclassified |
probably benign |
|
|
R0051:Tbx10
|
UTSW |
19 |
4,046,798 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0105:Tbx10
|
UTSW |
19 |
4,043,121 (GRCm39) |
unclassified |
probably benign |
|
|
R0626:Tbx10
|
UTSW |
19 |
4,047,873 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1265:Tbx10
|
UTSW |
19 |
4,046,625 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4713:Tbx10
|
UTSW |
19 |
4,046,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6337:Tbx10
|
UTSW |
19 |
4,047,312 (GRCm39) |
nonsense |
probably null |
|
|
R7021:Tbx10
|
UTSW |
19 |
4,048,961 (GRCm39) |
missense |
probably benign |
|
|
R7476:Tbx10
|
UTSW |
19 |
4,049,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7549:Tbx10
|
UTSW |
19 |
4,046,651 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8768:Tbx10
|
UTSW |
19 |
4,047,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tbx10
|
UTSW |
19 |
4,048,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation