Incidental Mutation 'R8861:Tcf20'
| ID |
675681 |
| 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 |
068740-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.618)
|
| Stock # |
R8861 (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 82852525 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1575
(V1575A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048966]
[ENSMUST00000109510]
[ENSMUST00000229439]
[ENSMUST00000229547]
[ENSMUST00000230403]
|
| AlphaFold |
Q9EPQ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048966
AA Change: V1575A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: V1575A
| 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 damaging
Transcript: ENSMUST00000109510
AA Change: V1575A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: V1575A
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
T |
C |
5: 139,410,887 |
|
probably benign |
Het |
| 5430419D17Rik |
A |
T |
7: 131,259,961 |
K1168* |
probably null |
Het |
| Acly |
A |
G |
11: 100,484,598 |
|
probably null |
Het |
| Agap2 |
T |
G |
10: 127,090,514 |
V896G |
unknown |
Het |
| Agtpbp1 |
T |
C |
13: 59,495,473 |
Y724C |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,925,453 |
N135D |
probably damaging |
Het |
| Aox3 |
T |
A |
1: 58,150,301 |
I387K |
probably benign |
Het |
| Bysl |
T |
C |
17: 47,606,959 |
E103G |
probably benign |
Het |
| Chmp5 |
T |
A |
4: 40,964,608 |
V208E |
probably damaging |
Het |
| Chst9 |
T |
G |
18: 15,452,573 |
H311P |
possibly damaging |
Het |
| Dcaf11 |
C |
A |
14: 55,564,498 |
Y235* |
probably null |
Het |
| Dlx5 |
A |
C |
6: 6,878,233 |
S266A |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,241,076 |
S2722T |
possibly damaging |
Het |
| Drc1 |
G |
A |
5: 30,364,495 |
|
probably benign |
Het |
| En2 |
T |
A |
5: 28,166,735 |
I70N |
probably damaging |
Het |
| Fam72a |
T |
C |
1: 131,538,918 |
Y147H |
possibly damaging |
Het |
| Fermt2 |
A |
T |
14: 45,460,009 |
F628L |
possibly damaging |
Het |
| Fkrp |
T |
A |
7: 16,810,824 |
D371V |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,364,804 |
L283P |
unknown |
Het |
| Gm13271 |
G |
A |
4: 88,755,129 |
V88I |
probably benign |
Het |
| Gnmt |
G |
A |
17: 46,726,692 |
T120M |
probably damaging |
Het |
| H2-T22 |
A |
T |
17: 36,042,398 |
V10D |
possibly damaging |
Het |
| Hbs1l |
T |
A |
10: 21,345,064 |
|
probably benign |
Het |
| Ick |
T |
A |
9: 78,164,562 |
N505K |
probably benign |
Het |
| Igf2bp3 |
A |
C |
6: 49,105,616 |
M344R |
possibly damaging |
Het |
| Kdm1b |
T |
C |
13: 47,064,106 |
V347A |
probably benign |
Het |
| Klra17 |
A |
T |
6: 129,874,902 |
S2R |
probably damaging |
Het |
| Klri1 |
A |
G |
6: 129,698,201 |
S199P |
probably benign |
Het |
| Ltk |
T |
A |
2: 119,759,613 |
Q44L |
probably benign |
Het |
| Map3k20 |
C |
A |
2: 72,389,467 |
|
probably benign |
Het |
| Matn4 |
A |
T |
2: 164,392,905 |
Y549N |
|
Het |
| Mcoln3 |
T |
A |
3: 146,139,404 |
F452I |
probably damaging |
Het |
| Mipol1 |
T |
C |
12: 57,306,016 |
V47A |
probably benign |
Het |
| Msh4 |
A |
G |
3: 153,901,468 |
L145S |
probably benign |
Het |
| Myh11 |
A |
T |
16: 14,246,782 |
I224N |
|
Het |
| Nat8f1 |
A |
G |
6: 85,910,462 |
L172P |
probably damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,691,368 |
K438I |
probably benign |
Het |
| Nr1h3 |
T |
G |
2: 91,193,681 |
|
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,610,035 |
|
probably null |
Het |
| Olfr1036 |
A |
G |
2: 86,075,616 |
N292S |
probably damaging |
Het |
| Olfr1271 |
T |
C |
2: 90,266,459 |
|
probably benign |
Het |
| Olfr871 |
A |
T |
9: 20,213,081 |
H244L |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,775,456 |
Y98N |
probably benign |
Het |
| Ppp6r2 |
T |
G |
15: 89,259,165 |
C172G |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,570,190 |
D979G |
probably damaging |
Het |
| Rbm28 |
A |
G |
6: 29,152,285 |
I329T |
probably damaging |
Het |
| Rnf144a |
T |
C |
12: 26,339,344 |
T33A |
probably damaging |
Het |
| Rnf145 |
A |
G |
11: 44,555,157 |
T273A |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,442,236 |
R2758H |
|
Het |
| Slc22a19 |
A |
T |
19: 7,682,959 |
M362K |
possibly damaging |
Het |
| Slc29a4 |
G |
C |
5: 142,718,825 |
R374P |
probably damaging |
Het |
| Slc43a1 |
A |
G |
2: 84,861,404 |
T528A |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,971,286 |
Y172N |
probably damaging |
Het |
| Srpr |
T |
A |
9: 35,215,749 |
M573K |
probably benign |
Het |
| Steap4 |
A |
G |
5: 7,975,672 |
I78V |
probably benign |
Het |
| Sulf2 |
A |
G |
2: 166,132,686 |
L26P |
possibly damaging |
Het |
| Taok2 |
T |
C |
7: 126,871,443 |
K738E |
probably damaging |
Het |
| Tcea3 |
G |
A |
4: 136,254,499 |
R56H |
probably damaging |
Het |
| Togaram1 |
T |
G |
12: 64,980,632 |
S798R |
possibly 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 |
|
R8497:Tcf20
|
UTSW |
15 |
82,855,951 (GRCm38) |
missense |
probably benign |
0.07 |
|
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 |
|
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'- ACAATGGGAACTGCTTGTTTGG -3'
(R):5'- TCACAGAAGCCTGGTGGTAAC -3'
Sequencing Primer
(F):5'- AACTGCTTGTTTGGTTTTCCGC -3'
(R):5'- GGGGCAGCACCACTAATCTTTC -3'
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| Posted On |
2021-07-15 |
Incidental Mutation