Incidental Mutation 'R1575:Tcf20'
| ID |
171128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcf20
|
| Ensembl Gene |
ENSMUSG00000041852 |
| Gene Name |
transcription factor 20 |
| Synonyms |
SPBP, stromelysin 1 PDGF responsive element binding protein, 2810438H08Rik |
| MMRRC Submission |
039613-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.775)
|
| Stock # |
R1575 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82692637-82872073 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 82739693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 586
(G586V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048966]
[ENSMUST00000109510]
[ENSMUST00000229439]
[ENSMUST00000229547]
[ENSMUST00000230403]
|
| AlphaFold |
Q9EPQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048966
AA Change: G586V
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: G586V
| 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: G586V
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: G586V
| 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 |
0.0625 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
| Validation Efficiency |
100% (72/72) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
T |
A |
3: 148,558,398 (GRCm39) |
T437S |
probably benign |
Het |
| Akna |
A |
G |
4: 63,297,570 (GRCm39) |
F828S |
probably benign |
Het |
| Alg9 |
G |
T |
9: 50,686,802 (GRCm39) |
A40S |
possibly damaging |
Het |
| Alox8 |
T |
A |
11: 69,076,067 (GRCm39) |
H628L |
possibly damaging |
Het |
| Aox3 |
T |
C |
1: 58,191,713 (GRCm39) |
W422R |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,228,528 (GRCm39) |
D984G |
probably benign |
Het |
| Bcam |
T |
C |
7: 19,494,307 (GRCm39) |
E363G |
possibly damaging |
Het |
| Cadps2 |
C |
A |
6: 23,429,217 (GRCm39) |
V519F |
probably damaging |
Het |
| Calca |
A |
G |
7: 114,234,396 (GRCm39) |
Y18H |
probably damaging |
Het |
| Cd70 |
A |
G |
17: 57,453,364 (GRCm39) |
I100T |
probably damaging |
Het |
| Cdk4 |
T |
A |
10: 126,900,520 (GRCm39) |
H95Q |
probably damaging |
Het |
| Chchd1 |
T |
A |
14: 20,753,410 (GRCm39) |
N11K |
probably damaging |
Het |
| Cma2 |
T |
A |
14: 56,210,272 (GRCm39) |
N52K |
probably damaging |
Het |
| Cyp3a16 |
A |
G |
5: 145,373,267 (GRCm39) |
V500A |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,688,228 (GRCm39) |
|
probably null |
Het |
| Dnajc13 |
A |
G |
9: 104,034,037 (GRCm39) |
S2206P |
probably benign |
Het |
| Dtl |
T |
C |
1: 191,293,658 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
C |
15: 99,184,852 (GRCm39) |
T24A |
probably benign |
Het |
| Fbxw21 |
A |
G |
9: 108,990,984 (GRCm39) |
V25A |
probably benign |
Het |
| Gins1 |
T |
C |
2: 150,754,758 (GRCm39) |
S45P |
probably benign |
Het |
| Gtpbp2 |
T |
A |
17: 46,476,869 (GRCm39) |
V349D |
probably damaging |
Het |
| Hyal5 |
G |
T |
6: 24,876,792 (GRCm39) |
D222Y |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,900,060 (GRCm39) |
|
probably null |
Het |
| Klk14 |
A |
G |
7: 43,343,377 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
A |
17: 68,117,404 (GRCm39) |
L2518Q |
possibly damaging |
Het |
| Lrrc2 |
G |
A |
9: 110,808,555 (GRCm39) |
G264D |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,022,245 (GRCm39) |
S893P |
probably damaging |
Het |
| Mast4 |
G |
A |
13: 102,875,771 (GRCm39) |
P1107L |
probably damaging |
Het |
| Mbd1 |
T |
A |
18: 74,408,490 (GRCm39) |
|
probably null |
Het |
| Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
| Ncan |
G |
A |
8: 70,562,848 (GRCm39) |
T470I |
probably benign |
Het |
| Npy1r |
A |
T |
8: 67,156,813 (GRCm39) |
I78F |
probably damaging |
Het |
| Or10q1b |
A |
T |
19: 13,682,889 (GRCm39) |
M233L |
probably benign |
Het |
| Or8b52 |
G |
A |
9: 38,576,573 (GRCm39) |
T189M |
probably damaging |
Het |
| Palb2 |
A |
T |
7: 121,710,061 (GRCm39) |
|
probably null |
Het |
| Pax3 |
T |
C |
1: 78,080,121 (GRCm39) |
T422A |
probably benign |
Het |
| Pebp1 |
A |
T |
5: 117,424,229 (GRCm39) |
D72E |
possibly damaging |
Het |
| Pnliprp1 |
A |
T |
19: 58,728,901 (GRCm39) |
T363S |
probably benign |
Het |
| Rbm44 |
G |
A |
1: 91,084,565 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
T |
A |
5: 66,182,358 (GRCm39) |
Y425F |
probably benign |
Het |
| Robo3 |
G |
T |
9: 37,340,957 (GRCm39) |
A83E |
probably damaging |
Het |
| Rrm1 |
A |
G |
7: 102,105,721 (GRCm39) |
Y279C |
probably damaging |
Het |
| Rslcan18 |
A |
T |
13: 67,256,121 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
C |
A |
14: 65,968,314 (GRCm39) |
Q196K |
probably benign |
Het |
| Setd1b |
C |
T |
5: 123,301,210 (GRCm39) |
|
probably benign |
Het |
| Siah1a |
A |
G |
8: 87,451,869 (GRCm39) |
F205S |
probably damaging |
Het |
| Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
| Ssu72 |
A |
G |
4: 155,815,814 (GRCm39) |
D86G |
probably benign |
Het |
| St7 |
G |
T |
6: 17,886,110 (GRCm39) |
K357N |
probably damaging |
Het |
| Sv2b |
G |
A |
7: 74,797,425 (GRCm39) |
T323I |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,340,361 (GRCm39) |
N319S |
probably benign |
Het |
| Tanc1 |
T |
A |
2: 59,621,995 (GRCm39) |
F371L |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,601,534 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
A |
T |
9: 21,026,758 (GRCm39) |
N620K |
probably benign |
Het |
| Ube2j1 |
T |
A |
4: 33,045,116 (GRCm39) |
S130T |
probably benign |
Het |
| Ubr2 |
G |
T |
17: 47,243,418 (GRCm39) |
P1696H |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,041,085 (GRCm39) |
D266E |
probably damaging |
Het |
| Vipr2 |
A |
G |
12: 116,107,892 (GRCm39) |
T426A |
probably benign |
Het |
| Vmn2r104 |
A |
T |
17: 20,262,477 (GRCm39) |
W218R |
probably damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,314,956 (GRCm39) |
N401K |
probably damaging |
Het |
| Vwf |
A |
G |
6: 125,632,214 (GRCm39) |
E82G |
unknown |
Het |
| Vwf |
T |
A |
6: 125,640,534 (GRCm39) |
Y2323* |
probably null |
Het |
| Wdr76 |
T |
G |
2: 121,359,402 (GRCm39) |
V329G |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,460,214 (GRCm39) |
C1226R |
unknown |
Het |
| Zbtb16 |
G |
T |
9: 48,743,572 (GRCm39) |
Q247K |
probably damaging |
Het |
| Zfp541 |
T |
C |
7: 15,812,640 (GRCm39) |
V431A |
possibly damaging |
Het |
|
| Other mutations in Tcf20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Tcf20
|
APN |
15 |
82,739,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00229:Tcf20
|
APN |
15 |
82,741,343 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL00539:Tcf20
|
APN |
15 |
82,736,957 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL00576:Tcf20
|
APN |
15 |
82,740,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01135:Tcf20
|
APN |
15 |
82,738,101 (GRCm39) |
missense |
probably benign |
|
|
IGL01670:Tcf20
|
APN |
15 |
82,739,564 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01684:Tcf20
|
APN |
15 |
82,741,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01767:Tcf20
|
APN |
15 |
82,740,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01825:Tcf20
|
APN |
15 |
82,737,167 (GRCm39) |
missense |
probably benign |
|
|
IGL01834:Tcf20
|
APN |
15 |
82,739,898 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01836:Tcf20
|
APN |
15 |
82,739,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02415:Tcf20
|
APN |
15 |
82,737,660 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02731:Tcf20
|
APN |
15 |
82,737,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02739:Tcf20
|
APN |
15 |
82,740,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03058:Tcf20
|
APN |
15 |
82,736,205 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4131001:Tcf20
|
UTSW |
15 |
82,735,785 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0184:Tcf20
|
UTSW |
15 |
82,736,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0207:Tcf20
|
UTSW |
15 |
82,739,286 (GRCm39) |
missense |
probably benign |
|
|
R0732:Tcf20
|
UTSW |
15 |
82,736,504 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1502:Tcf20
|
UTSW |
15 |
82,739,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Tcf20
|
UTSW |
15 |
82,736,978 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1997:Tcf20
|
UTSW |
15 |
82,741,431 (GRCm39) |
nonsense |
probably null |
|
|
R2152:Tcf20
|
UTSW |
15 |
82,739,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Tcf20
|
UTSW |
15 |
82,738,893 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2288:Tcf20
|
UTSW |
15 |
82,735,886 (GRCm39) |
missense |
probably benign |
|
|
R4049:Tcf20
|
UTSW |
15 |
82,737,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4496:Tcf20
|
UTSW |
15 |
82,739,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Tcf20
|
UTSW |
15 |
82,735,928 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4892:Tcf20
|
UTSW |
15 |
82,738,400 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5164:Tcf20
|
UTSW |
15 |
82,740,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5207:Tcf20
|
UTSW |
15 |
82,740,386 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5219:Tcf20
|
UTSW |
15 |
82,740,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5228:Tcf20
|
UTSW |
15 |
82,740,156 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5288:Tcf20
|
UTSW |
15 |
82,739,910 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5374:Tcf20
|
UTSW |
15 |
82,736,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5384:Tcf20
|
UTSW |
15 |
82,740,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5677:Tcf20
|
UTSW |
15 |
82,737,443 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5897:Tcf20
|
UTSW |
15 |
82,735,984 (GRCm39) |
nonsense |
probably null |
|
|
R6089:Tcf20
|
UTSW |
15 |
82,737,409 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6196:Tcf20
|
UTSW |
15 |
82,736,187 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6229:Tcf20
|
UTSW |
15 |
82,739,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6448:Tcf20
|
UTSW |
15 |
82,736,861 (GRCm39) |
missense |
probably benign |
|
|
R6688:Tcf20
|
UTSW |
15 |
82,738,736 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7009:Tcf20
|
UTSW |
15 |
82,738,883 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7051:Tcf20
|
UTSW |
15 |
82,740,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7215:Tcf20
|
UTSW |
15 |
82,737,690 (GRCm39) |
missense |
probably benign |
|
|
R7486:Tcf20
|
UTSW |
15 |
82,737,935 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7583:Tcf20
|
UTSW |
15 |
82,739,477 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7678:Tcf20
|
UTSW |
15 |
82,735,766 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8090:Tcf20
|
UTSW |
15 |
82,740,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8156:Tcf20
|
UTSW |
15 |
82,737,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8191:Tcf20
|
UTSW |
15 |
82,737,606 (GRCm39) |
nonsense |
probably null |
|
|
R8259:Tcf20
|
UTSW |
15 |
82,736,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8339:Tcf20
|
UTSW |
15 |
82,736,877 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8447:Tcf20
|
UTSW |
15 |
82,737,437 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8497:Tcf20
|
UTSW |
15 |
82,740,152 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8728:Tcf20
|
UTSW |
15 |
82,739,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8829:Tcf20
|
UTSW |
15 |
82,739,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8861:Tcf20
|
UTSW |
15 |
82,736,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9177:Tcf20
|
UTSW |
15 |
82,740,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9268:Tcf20
|
UTSW |
15 |
82,740,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9294:Tcf20
|
UTSW |
15 |
82,736,897 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9648:Tcf20
|
UTSW |
15 |
82,739,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9675:Tcf20
|
UTSW |
15 |
82,740,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Tcf20
|
UTSW |
15 |
82,736,037 (GRCm39) |
missense |
probably benign |
0.25 |
|
RF019:Tcf20
|
UTSW |
15 |
82,735,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCCACTATTGCTAGGTGGTCTC -3'
(R):5'- GCTGTACAAACTCAGAAGGCTCCTC -3'
Sequencing Primer
(F):5'- TGACTGGCAGCAGGATCATC -3'
(R):5'- GCTCCTCACAGCCTGAAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation