Incidental Mutation 'R8497:Tcf20'
| ID |
658344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcf20
|
| Ensembl Gene |
ENSMUSG00000041852 |
| Gene Name |
transcription factor 20 |
| Synonyms |
stromelysin 1 PDGF responsive element binding protein, 2810438H08Rik, SPBP |
| MMRRC Submission |
067939-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.618)
|
| Stock # |
R8497 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82808436-82987872 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82855951 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 433
(M433T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048966]
[ENSMUST00000109510]
[ENSMUST00000229439]
[ENSMUST00000229547]
[ENSMUST00000230403]
|
| AlphaFold |
Q9EPQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048966
AA Change: M433T
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: M433T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
74 |
N/A |
INTRINSIC |
|
coiled coil region
|
163 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
1047 |
1056 |
N/A |
INTRINSIC |
|
low complexity region
|
1532 |
1544 |
N/A |
INTRINSIC |
|
low complexity region
|
1577 |
1593 |
N/A |
INTRINSIC |
|
low complexity region
|
1602 |
1617 |
N/A |
INTRINSIC |
|
low complexity region
|
1793 |
1804 |
N/A |
INTRINSIC |
|
low complexity region
|
1860 |
1874 |
N/A |
INTRINSIC |
|
PHD
|
1913 |
1960 |
6.7e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109510
AA Change: M433T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: M433T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
74 |
N/A |
INTRINSIC |
|
coiled coil region
|
163 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
1047 |
1056 |
N/A |
INTRINSIC |
|
low complexity region
|
1532 |
1544 |
N/A |
INTRINSIC |
|
low complexity region
|
1577 |
1593 |
N/A |
INTRINSIC |
|
low complexity region
|
1602 |
1617 |
N/A |
INTRINSIC |
|
low complexity region
|
1793 |
1804 |
N/A |
INTRINSIC |
|
low complexity region
|
1860 |
1874 |
N/A |
INTRINSIC |
|
PHD
|
1913 |
1960 |
6.7e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229439
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229547
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230403
|
| Meta Mutation Damage Score |
0.0601 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,945,850 (GRCm38) |
H509Y |
probably benign |
Het |
| Afm |
A |
T |
5: 90,551,343 (GRCm38) |
|
probably null |
Het |
| Apc |
G |
A |
18: 34,313,030 (GRCm38) |
C975Y |
possibly damaging |
Het |
| Ash1l |
G |
T |
3: 89,007,644 (GRCm38) |
M1860I |
probably benign |
Het |
| Bdkrb1 |
C |
T |
12: 105,604,204 (GRCm38) |
Q10* |
probably null |
Het |
| Bphl |
A |
G |
13: 34,037,723 (GRCm38) |
K21E |
possibly damaging |
Het |
| Cadps2 |
T |
C |
6: 23,355,919 (GRCm38) |
N837D |
probably benign |
Het |
| Cat |
C |
G |
2: 103,456,876 (GRCm38) |
A470P |
probably damaging |
Het |
| Ccdc129 |
A |
T |
6: 55,898,194 (GRCm38) |
R376S |
probably benign |
Het |
| Cdc34 |
G |
T |
10: 79,685,011 (GRCm38) |
D11Y |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,551,458 (GRCm38) |
E1936G |
probably damaging |
Het |
| Cnot6 |
A |
T |
11: 49,675,364 (GRCm38) |
N501K |
possibly damaging |
Het |
| Cyth3 |
A |
C |
5: 143,692,573 (GRCm38) |
D44A |
probably benign |
Het |
| Dchs1 |
C |
T |
7: 105,758,961 (GRCm38) |
G1888D |
probably damaging |
Het |
| Fam160a2 |
G |
T |
7: 105,381,189 (GRCm38) |
D820E |
probably damaging |
Het |
| Ffar1 |
T |
G |
7: 30,860,909 (GRCm38) |
I188L |
probably benign |
Het |
| Gm10696 |
T |
A |
3: 94,175,812 (GRCm38) |
I231F |
possibly damaging |
Het |
| Gpr17 |
A |
G |
18: 31,947,120 (GRCm38) |
Y297H |
probably damaging |
Het |
| H2-M10.5 |
A |
C |
17: 36,773,837 (GRCm38) |
E151A |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,580,239 (GRCm38) |
R5310K |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,423,345 (GRCm38) |
L3522P |
possibly damaging |
Het |
| Hs2st1 |
T |
G |
3: 144,434,691 (GRCm38) |
T290P |
probably damaging |
Het |
| Il5ra |
G |
A |
6: 106,738,105 (GRCm38) |
L231F |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,785,461 (GRCm38) |
C529S |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,539,984 (GRCm38) |
D138G |
possibly damaging |
Het |
| Mat1a |
C |
T |
14: 41,121,894 (GRCm38) |
R357W |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mtss1l |
T |
C |
8: 110,738,590 (GRCm38) |
V492A |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,515,359 (GRCm38) |
V330A |
probably damaging |
Het |
| Neu3 |
A |
T |
7: 99,823,135 (GRCm38) |
|
probably null |
Het |
| Nfx1 |
A |
G |
4: 40,976,968 (GRCm38) |
D214G |
possibly damaging |
Het |
| Olfr1306 |
T |
A |
2: 111,912,619 (GRCm38) |
I104F |
possibly damaging |
Het |
| Olfr1390 |
G |
A |
11: 49,340,894 (GRCm38) |
D121N |
probably damaging |
Het |
| Olfr1457 |
T |
C |
19: 13,095,343 (GRCm38) |
T102A |
probably benign |
Het |
| Olfr237-ps1 |
T |
C |
6: 43,153,884 (GRCm38) |
L193P |
probably damaging |
Het |
| Pcdhb14 |
A |
T |
18: 37,449,296 (GRCm38) |
H485L |
probably benign |
Het |
| Pdss2 |
A |
C |
10: 43,413,525 (GRCm38) |
K342T |
possibly damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,490,228 (GRCm38) |
S254P |
probably damaging |
Het |
| Prelid1 |
A |
G |
13: 55,323,020 (GRCm38) |
D87G |
probably damaging |
Het |
| Prkg1 |
C |
A |
19: 31,302,309 (GRCm38) |
C190F |
probably damaging |
Het |
| Psmb5 |
A |
G |
14: 54,614,380 (GRCm38) |
S116P |
possibly damaging |
Het |
| Rassf6 |
A |
G |
5: 90,631,532 (GRCm38) |
V14A |
possibly damaging |
Het |
| Ripk1 |
T |
C |
13: 34,027,951 (GRCm38) |
S415P |
probably damaging |
Het |
| Rnft1 |
A |
T |
11: 86,495,306 (GRCm38) |
K344* |
probably null |
Het |
| Sacs |
G |
A |
14: 61,192,253 (GRCm38) |
R587Q |
probably benign |
Het |
| Skp2 |
A |
T |
15: 9,127,884 (GRCm38) |
|
probably null |
Het |
| Spata31d1a |
T |
C |
13: 59,701,174 (GRCm38) |
K1047E |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,388,321 (GRCm38) |
T1098I |
possibly damaging |
Het |
| Tsen54 |
T |
C |
11: 115,822,584 (GRCm38) |
F438L |
probably damaging |
Het |
| Utp23 |
C |
T |
15: 51,882,218 (GRCm38) |
T144I |
probably damaging |
Het |
| Vmn2r105 |
T |
C |
17: 20,234,872 (GRCm38) |
M1V |
probably null |
Het |
| Wdfy4 |
C |
T |
14: 32,966,399 (GRCm38) |
V2926M |
probably damaging |
Het |
| Zfp407 |
T |
C |
18: 84,559,896 (GRCm38) |
K1031E |
probably damaging |
Het |
|
| Other mutations in Tcf20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Tcf20
|
APN |
15 |
82,854,895 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00229:Tcf20
|
APN |
15 |
82,857,142 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL00539:Tcf20
|
APN |
15 |
82,852,756 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL00576:Tcf20
|
APN |
15 |
82,856,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01135:Tcf20
|
APN |
15 |
82,853,900 (GRCm38) |
missense |
probably benign |
|
|
IGL01670:Tcf20
|
APN |
15 |
82,855,363 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL01684:Tcf20
|
APN |
15 |
82,857,160 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01767:Tcf20
|
APN |
15 |
82,856,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01825:Tcf20
|
APN |
15 |
82,852,966 (GRCm38) |
missense |
probably benign |
|
|
IGL01834:Tcf20
|
APN |
15 |
82,855,697 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01836:Tcf20
|
APN |
15 |
82,855,155 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02415:Tcf20
|
APN |
15 |
82,853,459 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL02731:Tcf20
|
APN |
15 |
82,853,237 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02739:Tcf20
|
APN |
15 |
82,856,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03058:Tcf20
|
APN |
15 |
82,852,004 (GRCm38) |
missense |
probably damaging |
0.96 |
|
PIT4131001:Tcf20
|
UTSW |
15 |
82,851,584 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0184:Tcf20
|
UTSW |
15 |
82,852,300 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0207:Tcf20
|
UTSW |
15 |
82,855,085 (GRCm38) |
missense |
probably benign |
|
|
R0732:Tcf20
|
UTSW |
15 |
82,852,303 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1502:Tcf20
|
UTSW |
15 |
82,855,576 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1575:Tcf20
|
UTSW |
15 |
82,855,492 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1719:Tcf20
|
UTSW |
15 |
82,852,777 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1997:Tcf20
|
UTSW |
15 |
82,857,230 (GRCm38) |
nonsense |
probably null |
|
|
R2152:Tcf20
|
UTSW |
15 |
82,855,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2173:Tcf20
|
UTSW |
15 |
82,854,692 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R2288:Tcf20
|
UTSW |
15 |
82,851,685 (GRCm38) |
missense |
probably benign |
|
|
R4049:Tcf20
|
UTSW |
15 |
82,853,429 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4496:Tcf20
|
UTSW |
15 |
82,854,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4704:Tcf20
|
UTSW |
15 |
82,851,727 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R4892:Tcf20
|
UTSW |
15 |
82,854,199 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5164:Tcf20
|
UTSW |
15 |
82,856,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5207:Tcf20
|
UTSW |
15 |
82,856,185 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5219:Tcf20
|
UTSW |
15 |
82,856,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5228:Tcf20
|
UTSW |
15 |
82,855,955 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5288:Tcf20
|
UTSW |
15 |
82,855,709 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5374:Tcf20
|
UTSW |
15 |
82,851,957 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5384:Tcf20
|
UTSW |
15 |
82,856,199 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5677:Tcf20
|
UTSW |
15 |
82,853,242 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5897:Tcf20
|
UTSW |
15 |
82,851,783 (GRCm38) |
nonsense |
probably null |
|
|
R6089:Tcf20
|
UTSW |
15 |
82,853,208 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6196:Tcf20
|
UTSW |
15 |
82,851,986 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6229:Tcf20
|
UTSW |
15 |
82,854,880 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6448:Tcf20
|
UTSW |
15 |
82,852,660 (GRCm38) |
missense |
probably benign |
|
|
R6688:Tcf20
|
UTSW |
15 |
82,854,535 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7009:Tcf20
|
UTSW |
15 |
82,854,682 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7051:Tcf20
|
UTSW |
15 |
82,856,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7215:Tcf20
|
UTSW |
15 |
82,853,489 (GRCm38) |
missense |
probably benign |
|
|
R7486:Tcf20
|
UTSW |
15 |
82,853,734 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R7583:Tcf20
|
UTSW |
15 |
82,855,276 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7678:Tcf20
|
UTSW |
15 |
82,851,565 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8090:Tcf20
|
UTSW |
15 |
82,856,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8156:Tcf20
|
UTSW |
15 |
82,852,937 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8191:Tcf20
|
UTSW |
15 |
82,853,405 (GRCm38) |
nonsense |
probably null |
|
|
R8259:Tcf20
|
UTSW |
15 |
82,852,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8339:Tcf20
|
UTSW |
15 |
82,852,676 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8447:Tcf20
|
UTSW |
15 |
82,853,236 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8728:Tcf20
|
UTSW |
15 |
82,854,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8829:Tcf20
|
UTSW |
15 |
82,855,714 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8861:Tcf20
|
UTSW |
15 |
82,852,525 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9177:Tcf20
|
UTSW |
15 |
82,856,504 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9268:Tcf20
|
UTSW |
15 |
82,856,504 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9294:Tcf20
|
UTSW |
15 |
82,852,696 (GRCm38) |
missense |
probably benign |
0.11 |
|
R9648:Tcf20
|
UTSW |
15 |
82,855,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9675:Tcf20
|
UTSW |
15 |
82,856,785 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9729:Tcf20
|
UTSW |
15 |
82,851,836 (GRCm38) |
missense |
probably benign |
0.25 |
|
RF019:Tcf20
|
UTSW |
15 |
82,851,593 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAGATTGGCCACTTGAC -3'
(R):5'- AATGCTGCCACCAAGATGC -3'
Sequencing Primer
(F):5'- GGAAGATTGGCCACTTGACTACTC -3'
(R):5'- TCTGCAAAGCCAGGTTGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation