Incidental Mutation 'R5219:Tcf20'
ID |
402243 |
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 |
042792-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.692)
|
Stock # |
R5219 (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 82740582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 290
(G290C)
|
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: G290C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048486 Gene: ENSMUSG00000041852 AA Change: G290C
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: G290C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105136 Gene: ENSMUSG00000041852 AA Change: G290C
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 |
0.6554 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (68/70) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700063H04Rik |
A |
G |
6: 122,369,299 (GRCm39) |
|
noncoding transcript |
Het |
4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
A2m |
A |
G |
6: 121,653,909 (GRCm39) |
H1414R |
possibly damaging |
Het |
A530064D06Rik |
G |
T |
17: 48,470,518 (GRCm39) |
D154E |
possibly damaging |
Het |
Adam34 |
C |
T |
8: 44,104,461 (GRCm39) |
D395N |
probably benign |
Het |
Agl |
A |
G |
3: 116,572,370 (GRCm39) |
V195A |
possibly damaging |
Het |
Aip |
T |
C |
19: 4,165,180 (GRCm39) |
I230V |
probably benign |
Het |
Akap10 |
A |
C |
11: 61,813,617 (GRCm39) |
S43A |
probably benign |
Het |
Ap3d1 |
T |
C |
10: 80,545,651 (GRCm39) |
E1026G |
probably benign |
Het |
Arid5b |
T |
A |
10: 68,113,940 (GRCm39) |
K32N |
probably benign |
Het |
Atp6v0a2 |
C |
A |
5: 124,790,249 (GRCm39) |
N477K |
probably damaging |
Het |
Atr |
A |
C |
9: 95,763,291 (GRCm39) |
I1062L |
probably damaging |
Het |
Ces2h |
T |
C |
8: 105,743,278 (GRCm39) |
V171A |
probably damaging |
Het |
Cnot2 |
A |
G |
10: 116,342,215 (GRCm39) |
|
probably null |
Het |
Cpne3 |
A |
T |
4: 19,526,366 (GRCm39) |
L391H |
probably damaging |
Het |
Ctdp1 |
A |
G |
18: 80,490,675 (GRCm39) |
L715P |
probably damaging |
Het |
Dcxr |
T |
C |
11: 120,616,314 (GRCm39) |
|
probably benign |
Het |
Dhtkd1 |
C |
T |
2: 5,919,627 (GRCm39) |
A585T |
probably benign |
Het |
Elapor2 |
G |
T |
5: 9,511,486 (GRCm39) |
W949C |
probably damaging |
Het |
Fcgbp |
G |
A |
7: 27,803,510 (GRCm39) |
A1705T |
probably damaging |
Het |
Galr1 |
A |
T |
18: 82,412,110 (GRCm39) |
V252D |
probably damaging |
Het |
Gm11677 |
A |
G |
11: 111,616,225 (GRCm39) |
|
noncoding transcript |
Het |
Gp6 |
A |
G |
7: 4,371,998 (GRCm39) |
V252A |
possibly damaging |
Het |
Inpp4b |
T |
C |
8: 82,610,785 (GRCm39) |
V176A |
probably benign |
Het |
Irx2 |
G |
C |
13: 72,779,420 (GRCm39) |
A235P |
probably damaging |
Het |
Klk1b11 |
G |
A |
7: 43,649,120 (GRCm39) |
C219Y |
probably damaging |
Het |
Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
Lars1 |
A |
T |
18: 42,367,785 (GRCm39) |
V431E |
probably benign |
Het |
Lmntd2 |
T |
C |
7: 140,791,387 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
A |
T |
7: 27,026,746 (GRCm39) |
W500R |
probably benign |
Het |
Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Nadk |
A |
G |
4: 155,668,711 (GRCm39) |
I127M |
probably benign |
Het |
Nxph1 |
T |
A |
6: 9,247,765 (GRCm39) |
Y245* |
probably null |
Het |
Or4a73 |
C |
T |
2: 89,421,046 (GRCm39) |
V138I |
probably benign |
Het |
Or7s1a-ps1 |
T |
C |
9: 18,843,990 (GRCm39) |
|
probably benign |
Het |
Or8g34 |
G |
T |
9: 39,373,563 (GRCm39) |
V276L |
probably benign |
Het |
Or9k7 |
T |
A |
10: 130,046,793 (GRCm39) |
T69S |
possibly damaging |
Het |
Orc1 |
T |
C |
4: 108,447,966 (GRCm39) |
F71S |
probably damaging |
Het |
Pccb |
A |
T |
9: 100,867,262 (GRCm39) |
Y404* |
probably null |
Het |
Pde2a |
A |
C |
7: 101,153,811 (GRCm39) |
I460L |
probably damaging |
Het |
Ppp3cb |
G |
T |
14: 20,578,263 (GRCm39) |
C162* |
probably null |
Het |
Prickle2 |
T |
C |
6: 92,353,511 (GRCm39) |
S652G |
probably benign |
Het |
Prss38 |
A |
G |
11: 59,266,309 (GRCm39) |
|
probably benign |
Het |
Rcor3 |
T |
A |
1: 191,821,813 (GRCm39) |
|
probably benign |
Het |
Rgp1 |
C |
T |
4: 43,579,440 (GRCm39) |
A16V |
probably damaging |
Het |
Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
Scnn1g |
T |
A |
7: 121,365,489 (GRCm39) |
Y514N |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,896,501 (GRCm39) |
D134G |
probably benign |
Het |
Slc38a3 |
A |
G |
9: 107,529,111 (GRCm39) |
|
probably benign |
Het |
Slc6a1 |
A |
T |
6: 114,287,182 (GRCm39) |
M388L |
probably benign |
Het |
Ssbp3 |
A |
T |
4: 106,904,655 (GRCm39) |
N350I |
probably damaging |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Sult1e1 |
A |
T |
5: 87,726,445 (GRCm39) |
I223N |
probably damaging |
Het |
Tekt2 |
G |
T |
4: 126,216,057 (GRCm39) |
T412K |
possibly damaging |
Het |
Trabd2b |
A |
G |
4: 114,460,007 (GRCm39) |
T382A |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubr4 |
C |
A |
4: 139,204,543 (GRCm39) |
Y4818* |
probably null |
Het |
Vmn1r204 |
A |
T |
13: 22,741,069 (GRCm39) |
R233S |
probably damaging |
Het |
Vmn1r86 |
A |
G |
7: 12,836,382 (GRCm39) |
Y165H |
probably damaging |
Het |
Yaf2 |
A |
C |
15: 93,183,355 (GRCm39) |
C152G |
probably benign |
Het |
Zfp804b |
A |
T |
5: 6,820,703 (GRCm39) |
F751I |
probably benign |
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 |
R1575:Tcf20
|
UTSW |
15 |
82,739,693 (GRCm39) |
missense |
probably benign |
0.19 |
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 |
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'- GGCAGCATTTGTGTACTGCATC -3'
(R):5'- GCCATCTTCTGCTGGTTATCAG -3'
Sequencing Primer
(F):5'- CAGCATTTGTGTACTGCATCACATG -3'
(R):5'- CAGTTAAGAGTAGGTCAGTTTGGAC -3'
|
Posted On |
2016-07-22 |