Incidental Mutation 'R6229:Tcf20'
ID |
504585 |
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 |
044358-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.692)
|
Stock # |
R6229 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
82692637-82872073 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82739081 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 790
(H790R)
|
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: H790R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048486 Gene: ENSMUSG00000041852 AA Change: H790R
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: H790R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105136 Gene: ENSMUSG00000041852 AA Change: H790R
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: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.0%
|
Validation Efficiency |
99% (69/70) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
G |
A |
1: 120,099,213 (GRCm39) |
|
probably null |
Het |
Adamts6 |
G |
A |
13: 104,483,900 (GRCm39) |
|
probably null |
Het |
Add3 |
C |
A |
19: 53,223,277 (GRCm39) |
A343D |
probably benign |
Het |
Ankub1 |
T |
C |
3: 57,572,528 (GRCm39) |
D398G |
probably benign |
Het |
Apbb1 |
C |
T |
7: 105,222,937 (GRCm39) |
A225T |
probably damaging |
Het |
Apbb1 |
C |
A |
7: 105,222,938 (GRCm39) |
W224C |
probably damaging |
Het |
Arhgef40 |
A |
T |
14: 52,227,547 (GRCm39) |
Q431L |
probably benign |
Het |
Calm4 |
A |
G |
13: 3,888,038 (GRCm39) |
D48G |
possibly damaging |
Het |
Ccdc18 |
A |
T |
5: 108,319,484 (GRCm39) |
I502L |
probably benign |
Het |
Cftr |
T |
C |
6: 18,220,683 (GRCm39) |
S185P |
probably damaging |
Het |
Chd2 |
C |
A |
7: 73,101,471 (GRCm39) |
K1418N |
possibly damaging |
Het |
Cmya5 |
A |
C |
13: 93,229,814 (GRCm39) |
V1758G |
probably benign |
Het |
Cpsf4l |
T |
C |
11: 113,599,680 (GRCm39) |
K35R |
possibly damaging |
Het |
Cyp2c68 |
A |
T |
19: 39,727,622 (GRCm39) |
V119E |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dnah3 |
G |
T |
7: 119,564,711 (GRCm39) |
Q2651K |
probably benign |
Het |
Eif4g2 |
T |
C |
7: 110,676,920 (GRCm39) |
|
probably null |
Het |
Enc1 |
A |
G |
13: 97,381,999 (GRCm39) |
R170G |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,741,228 (GRCm39) |
R357G |
probably damaging |
Het |
Epb41l2 |
A |
G |
10: 25,375,734 (GRCm39) |
K58E |
possibly damaging |
Het |
Fis1 |
A |
G |
5: 136,994,528 (GRCm39) |
|
probably null |
Het |
Fmo9 |
A |
C |
1: 166,505,126 (GRCm39) |
M89R |
possibly damaging |
Het |
Gm6096 |
A |
C |
7: 33,950,676 (GRCm39) |
I72L |
possibly damaging |
Het |
Golga5 |
G |
A |
12: 102,450,740 (GRCm39) |
M464I |
probably benign |
Het |
Got1l1 |
T |
C |
8: 27,688,464 (GRCm39) |
|
probably null |
Het |
Ift56 |
T |
A |
6: 38,371,975 (GRCm39) |
N188K |
probably benign |
Het |
Igfbpl1 |
A |
G |
4: 45,813,517 (GRCm39) |
Y233H |
probably damaging |
Het |
Il18r1 |
T |
C |
1: 40,513,923 (GRCm39) |
I43T |
probably benign |
Het |
Ints8 |
T |
C |
4: 11,252,891 (GRCm39) |
N64D |
probably damaging |
Het |
Kalrn |
A |
G |
16: 33,875,441 (GRCm39) |
S44P |
probably damaging |
Het |
Kif13b |
G |
T |
14: 64,976,016 (GRCm39) |
G444W |
probably damaging |
Het |
Lmo1 |
A |
G |
7: 108,742,832 (GRCm39) |
C13R |
probably damaging |
Het |
Lrfn2 |
T |
A |
17: 49,404,160 (GRCm39) |
M761K |
possibly damaging |
Het |
Lrrd1 |
T |
C |
5: 3,913,887 (GRCm39) |
I719T |
probably damaging |
Het |
Madd |
A |
T |
2: 90,974,015 (GRCm39) |
V1423E |
probably damaging |
Het |
Mbnl1 |
T |
A |
3: 60,528,749 (GRCm39) |
|
probably null |
Het |
Mrps28 |
T |
C |
3: 8,965,097 (GRCm39) |
D114G |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,226,792 (GRCm39) |
M1412L |
probably benign |
Het |
Myf6 |
T |
C |
10: 107,330,280 (GRCm39) |
K96E |
possibly damaging |
Het |
Myrf |
A |
G |
19: 10,197,162 (GRCm39) |
V462A |
probably benign |
Het |
Nbeal1 |
T |
C |
1: 60,287,524 (GRCm39) |
S923P |
possibly damaging |
Het |
Nckap1l |
T |
C |
15: 103,381,549 (GRCm39) |
L430P |
possibly damaging |
Het |
Nfatc2ip |
C |
T |
7: 125,995,113 (GRCm39) |
|
probably null |
Het |
Or11g24 |
A |
G |
14: 50,662,662 (GRCm39) |
R229G |
probably benign |
Het |
Or12e10 |
G |
T |
2: 87,640,431 (GRCm39) |
C89F |
probably damaging |
Het |
Or2w4 |
T |
C |
13: 21,795,819 (GRCm39) |
I107V |
probably benign |
Het |
Or7g33 |
T |
A |
9: 19,449,014 (GRCm39) |
I71F |
possibly damaging |
Het |
Plin2 |
A |
G |
4: 86,586,903 (GRCm39) |
V5A |
probably benign |
Het |
Pramel31 |
T |
C |
4: 144,090,199 (GRCm39) |
M413T |
probably benign |
Het |
Ptprm |
T |
A |
17: 66,995,295 (GRCm39) |
D1311V |
probably damaging |
Het |
Recql5 |
A |
T |
11: 115,821,540 (GRCm39) |
I72N |
probably damaging |
Het |
Sall2 |
A |
T |
14: 52,550,648 (GRCm39) |
M847K |
probably benign |
Het |
Slc23a1 |
T |
C |
18: 35,752,577 (GRCm39) |
R567G |
probably benign |
Het |
Slc28a1 |
G |
A |
7: 80,774,753 (GRCm39) |
R200H |
probably benign |
Het |
Smc4 |
T |
A |
3: 68,937,580 (GRCm39) |
Y843* |
probably null |
Het |
Syne2 |
C |
A |
12: 75,967,994 (GRCm39) |
Q915K |
probably benign |
Het |
Tas2r131 |
T |
A |
6: 132,933,985 (GRCm39) |
I275F |
probably damaging |
Het |
Tm7sf3 |
A |
G |
6: 146,514,887 (GRCm39) |
F310S |
possibly damaging |
Het |
Tmem9b |
T |
A |
7: 109,344,627 (GRCm39) |
|
probably null |
Het |
Tnfaip8 |
A |
G |
18: 50,184,742 (GRCm39) |
|
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,838 (GRCm38) |
L835R |
probably damaging |
Het |
Trappc8 |
A |
T |
18: 21,003,802 (GRCm39) |
S209T |
probably benign |
Het |
Uap1 |
C |
T |
1: 169,994,302 (GRCm39) |
R58Q |
probably benign |
Het |
Upk3bl |
A |
G |
5: 136,092,915 (GRCm39) |
|
probably null |
Het |
Usp34 |
A |
G |
11: 23,396,778 (GRCm39) |
H596R |
probably damaging |
Het |
Vmn1r181 |
C |
T |
7: 23,683,580 (GRCm39) |
A15V |
probably damaging |
Het |
Vmn2r54 |
T |
A |
7: 12,365,883 (GRCm39) |
K350N |
probably benign |
Het |
Vmn2r89 |
A |
G |
14: 51,693,178 (GRCm39) |
H176R |
probably benign |
Het |
Vwa7 |
A |
G |
17: 35,243,241 (GRCm39) |
R640G |
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 |
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 |
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'- GAGCTGTGCTGCTTGACTTC -3'
(R):5'- AGGACTGAGCCTAGCAAGTC -3'
Sequencing Primer
(F):5'- TTCCCATGGTCCCCAGTGG -3'
(R):5'- CCTAGCAAGTCTCCTGGAAGTTTG -3'
|
Posted On |
2018-02-28 |