Incidental Mutation 'R9729:Tcf20'
ID |
731258 |
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 |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.692)
|
Stock # |
R9729 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
82692637-82872073 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82736037 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 1805
(R1805G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105136
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048966]
[ENSMUST00000109510]
[ENSMUST00000229547]
|
AlphaFold |
Q9EPQ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048966
AA Change: R1805G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048486 Gene: ENSMUSG00000041852 AA Change: R1805G
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: R1805G
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000105136 Gene: ENSMUSG00000041852 AA Change: R1805G
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: ENSMUST00000229547
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833439L19Rik |
A |
T |
13: 54,700,519 (GRCm39) |
M273K |
probably benign |
Het |
Aar2 |
A |
G |
2: 156,393,361 (GRCm39) |
D250G |
probably benign |
Het |
Acly |
T |
A |
11: 100,407,711 (GRCm39) |
Y213F |
probably benign |
Het |
Adgrg5 |
G |
A |
8: 95,668,133 (GRCm39) |
M399I |
|
Het |
Adhfe1 |
T |
C |
1: 9,623,634 (GRCm39) |
L95P |
probably damaging |
Het |
Ano7 |
G |
A |
1: 93,322,180 (GRCm39) |
C396Y |
probably damaging |
Het |
Apob |
T |
A |
12: 8,066,125 (GRCm39) |
Y4365N |
probably damaging |
Het |
Arfgap3 |
C |
T |
15: 83,192,366 (GRCm39) |
R411H |
probably damaging |
Het |
Bbs7 |
T |
C |
3: 36,661,818 (GRCm39) |
Y127C |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,382,982 (GRCm39) |
T793A |
probably benign |
Het |
Casp8ap2 |
T |
A |
4: 32,643,807 (GRCm39) |
V960E |
possibly damaging |
Het |
Cd200l1 |
G |
T |
16: 45,264,237 (GRCm39) |
T107N |
possibly damaging |
Het |
Cdkl3 |
A |
G |
11: 51,895,770 (GRCm39) |
T6A |
probably benign |
Het |
Cdkn2aip |
T |
C |
8: 48,166,654 (GRCm39) |
D51G |
probably benign |
Het |
Cdpf1 |
G |
T |
15: 85,692,527 (GRCm39) |
S52* |
probably null |
Het |
Celf5 |
T |
A |
10: 81,303,925 (GRCm39) |
D177V |
probably damaging |
Het |
Cep164 |
A |
G |
9: 45,682,897 (GRCm39) |
V931A |
probably damaging |
Het |
Cog6 |
T |
C |
3: 52,900,907 (GRCm39) |
D457G |
probably damaging |
Het |
Col4a2 |
G |
T |
8: 11,496,157 (GRCm39) |
V1593L |
probably benign |
Het |
Dlg5 |
C |
G |
14: 24,204,681 (GRCm39) |
M1287I |
probably benign |
Het |
Dmrt1 |
T |
C |
19: 25,523,362 (GRCm39) |
S238P |
probably benign |
Het |
Dpysl2 |
A |
G |
14: 67,099,927 (GRCm39) |
M103T |
probably benign |
Het |
Emsy |
C |
A |
7: 98,262,256 (GRCm39) |
A608S |
probably benign |
Het |
Entr1 |
A |
G |
2: 26,278,645 (GRCm39) |
F21S |
unknown |
Het |
Entrep2 |
C |
T |
7: 64,806,056 (GRCm39) |
G6S |
probably benign |
Het |
Exoc5 |
A |
T |
14: 49,253,086 (GRCm39) |
C576S |
probably damaging |
Het |
F830016B08Rik |
G |
A |
18: 60,433,558 (GRCm39) |
V214M |
possibly damaging |
Het |
Fignl1 |
A |
G |
11: 11,752,219 (GRCm39) |
S279P |
probably benign |
Het |
Gimap1 |
A |
G |
6: 48,719,386 (GRCm39) |
R71G |
unknown |
Het |
Gm26727 |
A |
T |
2: 67,263,263 (GRCm39) |
M88K |
probably damaging |
Het |
Gm45861 |
T |
A |
8: 28,045,436 (GRCm39) |
W1066R |
unknown |
Het |
Gpr15 |
A |
G |
16: 58,538,249 (GRCm39) |
L280S |
possibly damaging |
Het |
Grin1 |
C |
T |
2: 25,187,422 (GRCm39) |
W629* |
probably null |
Het |
Grk5 |
C |
T |
19: 61,078,467 (GRCm39) |
P508L |
possibly damaging |
Het |
Hgf |
A |
T |
5: 16,766,029 (GRCm39) |
D55V |
probably damaging |
Het |
Hipk1 |
T |
A |
3: 103,668,890 (GRCm39) |
D502V |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,489,758 (GRCm39) |
K4394E |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,740,467 (GRCm39) |
T388A |
probably damaging |
Het |
Lsm14a |
G |
T |
7: 34,088,898 (GRCm39) |
S2R |
probably damaging |
Het |
Madd |
A |
T |
2: 91,000,544 (GRCm39) |
M507K |
possibly damaging |
Het |
Map2k3 |
G |
T |
11: 60,837,472 (GRCm39) |
V191L |
|
Het |
Mapk8ip1 |
A |
G |
2: 92,217,060 (GRCm39) |
S421P |
probably damaging |
Het |
Marchf7 |
C |
T |
2: 60,064,785 (GRCm39) |
R354* |
probably null |
Het |
Myc |
T |
G |
15: 61,859,935 (GRCm39) |
C204G |
probably damaging |
Het |
Nampt |
A |
G |
12: 32,900,528 (GRCm39) |
H491R |
possibly damaging |
Het |
Noct |
C |
T |
3: 51,157,267 (GRCm39) |
Q202* |
probably null |
Het |
Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
Or10b1 |
T |
A |
10: 78,355,949 (GRCm39) |
F169Y |
probably damaging |
Het |
Osbpl10 |
G |
A |
9: 115,052,804 (GRCm39) |
V451M |
probably damaging |
Het |
Osr2 |
T |
A |
15: 35,303,061 (GRCm39) |
F312Y |
probably benign |
Het |
Parp16 |
A |
T |
9: 65,137,097 (GRCm39) |
I108F |
possibly damaging |
Het |
Parp4 |
A |
G |
14: 56,885,888 (GRCm39) |
T1656A |
unknown |
Het |
Pnpla8 |
A |
G |
12: 44,330,657 (GRCm39) |
I374V |
probably benign |
Het |
Prss23 |
T |
C |
7: 89,159,931 (GRCm39) |
N46S |
probably benign |
Het |
Ptger2 |
T |
C |
14: 45,226,476 (GRCm39) |
W19R |
possibly damaging |
Het |
Rbl2 |
T |
C |
8: 91,805,527 (GRCm39) |
S195P |
probably damaging |
Het |
Rnf169 |
C |
T |
7: 99,575,477 (GRCm39) |
V373I |
probably damaging |
Het |
Sclt1 |
C |
A |
3: 41,629,837 (GRCm39) |
E325* |
probably null |
Het |
Sergef |
C |
T |
7: 46,284,913 (GRCm39) |
S43N |
probably benign |
Het |
Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,777 (GRCm39) |
|
probably benign |
Het |
Slc3a2 |
T |
C |
19: 8,685,370 (GRCm39) |
D472G |
probably damaging |
Het |
Slc43a3 |
T |
C |
2: 84,780,800 (GRCm39) |
F342L |
probably benign |
Het |
Slc44a4 |
A |
T |
17: 35,140,670 (GRCm39) |
I288F |
probably benign |
Het |
Snupn |
T |
A |
9: 56,877,915 (GRCm39) |
N151K |
possibly damaging |
Het |
Srbd1 |
A |
T |
17: 86,437,550 (GRCm39) |
D264E |
probably benign |
Het |
Srpra |
A |
T |
9: 35,125,569 (GRCm39) |
T378S |
probably benign |
Het |
Stat4 |
A |
G |
1: 52,141,762 (GRCm39) |
D613G |
possibly damaging |
Het |
Sycp2l |
C |
T |
13: 41,326,132 (GRCm39) |
P246L |
|
Het |
Tob1 |
T |
A |
11: 94,104,880 (GRCm39) |
F139I |
probably damaging |
Het |
Traj9 |
A |
G |
14: 54,446,871 (GRCm39) |
T8A |
unknown |
Het |
Trank1 |
G |
T |
9: 111,220,537 (GRCm39) |
D2425Y |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,738,071 (GRCm39) |
S4202L |
unknown |
Het |
Ttn |
A |
T |
2: 76,577,267 (GRCm39) |
M24542K |
probably damaging |
Het |
Vcam1 |
T |
C |
3: 115,911,105 (GRCm39) |
Y431C |
probably damaging |
Het |
Vcpkmt |
G |
A |
12: 69,627,936 (GRCm39) |
R175C |
probably damaging |
Het |
Vmn2r51 |
A |
T |
7: 9,839,479 (GRCm39) |
D36E |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,949,917 (GRCm39) |
E779G |
probably damaging |
Het |
Zfp831 |
T |
C |
2: 174,487,938 (GRCm39) |
L871P |
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 |
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 |
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 |
RF019:Tcf20
|
UTSW |
15 |
82,735,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGTCAAGAGGTAGTTCAGG -3'
(R):5'- GTTACCGTAACATGGGTGACC -3'
Sequencing Primer
(F):5'- CAGGGATTTGTAACTCCAGCTCAG -3'
(R):5'- GGTGACCTCTTTGGACCCTTTTATC -3'
|
Posted On |
2022-10-06 |