Incidental Mutation 'R1276:Tcf21'
| ID |
150897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcf21
|
| Ensembl Gene |
ENSMUSG00000045680 |
| Gene Name |
transcription factor 21 |
| Synonyms |
bHLHa23, podocyte-expressed 1, epicardin, Pod-1, epc, capsulin, Pod1 |
| MMRRC Submission |
039342-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1276 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
22693162-22696042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 22695489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 105
(T105I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049930]
[ENSMUST00000218002]
|
| AlphaFold |
O35437 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049930
AA Change: T105I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000053178
Gene: ENSMUSG00000045680
AA Change: T105I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
61 |
N/A |
INTRINSIC |
|
HLH
|
85 |
137 |
3.3e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218002
AA Change: T105I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220000
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit hypoplastic lungs and kidneys with abnormal vasculature of these organs and the hemopericardium, and die at birth due to respiratory failure. Homozygotes for some mutations are also asplenic. Some alleles cause sex reversal in XY mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
C |
A |
8: 27,609,852 (GRCm39) |
A660D |
probably damaging |
Het |
| Ccdc82 |
A |
T |
9: 13,281,903 (GRCm39) |
I443F |
probably benign |
Het |
| Cct4 |
C |
T |
11: 22,952,171 (GRCm39) |
L391F |
probably damaging |
Het |
| Cep63 |
A |
T |
9: 102,466,099 (GRCm39) |
D642E |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,463,191 (GRCm39) |
L1424Q |
probably damaging |
Het |
| Cox4i1 |
A |
G |
8: 121,400,089 (GRCm39) |
Y71C |
probably damaging |
Het |
| Cyp2c69 |
T |
A |
19: 39,864,668 (GRCm39) |
Q270L |
possibly damaging |
Het |
| Egln2 |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
7: 26,864,430 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
A |
G |
15: 85,113,791 (GRCm39) |
D175G |
probably damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Gm9847 |
A |
G |
12: 14,544,932 (GRCm39) |
|
noncoding transcript |
Het |
| Hdlbp |
A |
T |
1: 93,348,823 (GRCm39) |
S576T |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,298,576 (GRCm39) |
N296S |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,571,833 (GRCm39) |
V2379E |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,618,588 (GRCm39) |
I162N |
probably benign |
Het |
| Mydgf |
A |
G |
17: 56,486,362 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,256,822 (GRCm39) |
D632G |
probably benign |
Het |
| Ska3 |
T |
C |
14: 58,057,726 (GRCm39) |
M209V |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,080,787 (GRCm39) |
E308G |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,624,996 (GRCm39) |
T131M |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,685,025 (GRCm39) |
S156T |
probably benign |
Het |
| Svs5 |
T |
A |
2: 164,079,168 (GRCm39) |
Q246H |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 75,987,963 (GRCm39) |
|
probably null |
Het |
| Tbc1d9b |
T |
A |
11: 50,043,476 (GRCm39) |
H532Q |
possibly damaging |
Het |
| Thsd7a |
C |
A |
6: 12,418,369 (GRCm39) |
C620F |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,031 (GRCm39) |
Y216C |
probably damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,344 (GRCm39) |
S356G |
possibly damaging |
Het |
| Wasf1 |
T |
A |
10: 40,812,522 (GRCm39) |
I437N |
unknown |
Het |
| Wdr24 |
A |
G |
17: 26,046,441 (GRCm39) |
Y538C |
probably benign |
Het |
| Zbtb4 |
G |
T |
11: 69,667,045 (GRCm39) |
D117Y |
probably damaging |
Het |
| Zfp654 |
A |
T |
16: 64,605,699 (GRCm39) |
F293L |
probably damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,719,788 (GRCm39) |
E158G |
probably damaging |
Het |
|
| Other mutations in Tcf21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02071:Tcf21
|
APN |
10 |
22,693,709 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0121:Tcf21
|
UTSW |
10 |
22,695,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0972:Tcf21
|
UTSW |
10 |
22,695,621 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5109:Tcf21
|
UTSW |
10 |
22,695,558 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6125:Tcf21
|
UTSW |
10 |
22,695,665 (GRCm39) |
missense |
probably benign |
|
|
R6898:Tcf21
|
UTSW |
10 |
22,695,403 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7851:Tcf21
|
UTSW |
10 |
22,695,747 (GRCm39) |
missense |
probably benign |
|
|
R7966:Tcf21
|
UTSW |
10 |
22,695,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8061:Tcf21
|
UTSW |
10 |
22,695,762 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9009:Tcf21
|
UTSW |
10 |
22,693,671 (GRCm39) |
missense |
probably benign |
|
|
R9744:Tcf21
|
UTSW |
10 |
22,695,726 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGGCGGCGATTTAACGAGTCAC -3'
(R):5'- AGTTTGGAACTTCCAACGAGAGCAC -3'
Sequencing Primer
(F):5'- GATTTAACGAGTCACGCTCTC -3'
(R):5'- TCCAACTGCGAGAACGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation