Incidental Mutation 'R6229:Tcf20'
| ID |
504585 |
| 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 |
044358-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.618)
|
| Stock # |
R6229 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82808436-82987872 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82854880 bp (GRCm38)
|
| 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: 120,171,483 (GRCm38) |
|
probably null |
Het |
| Adamts6 |
G |
A |
13: 104,347,392 (GRCm38) |
|
probably null |
Het |
| Add3 |
C |
A |
19: 53,234,846 (GRCm38) |
A343D |
probably benign |
Het |
| Ankub1 |
T |
C |
3: 57,665,107 (GRCm38) |
D398G |
probably benign |
Het |
| Apbb1 |
C |
T |
7: 105,573,730 (GRCm38) |
A225T |
probably damaging |
Het |
| Apbb1 |
C |
A |
7: 105,573,731 (GRCm38) |
W224C |
probably damaging |
Het |
| Arhgef40 |
A |
T |
14: 51,990,090 (GRCm38) |
Q431L |
probably benign |
Het |
| Calm4 |
A |
G |
13: 3,838,038 (GRCm38) |
D48G |
possibly damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,171,618 (GRCm38) |
I502L |
probably benign |
Het |
| Cftr |
T |
C |
6: 18,220,684 (GRCm38) |
S185P |
probably damaging |
Het |
| Chd2 |
C |
A |
7: 73,451,723 (GRCm38) |
K1418N |
possibly damaging |
Het |
| Cmya5 |
A |
C |
13: 93,093,306 (GRCm38) |
V1758G |
probably benign |
Het |
| Cpsf4l |
T |
C |
11: 113,708,854 (GRCm38) |
K35R |
possibly damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,739,178 (GRCm38) |
V119E |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,731,751 (GRCm38) |
A524V |
probably benign |
Het |
| Dnah3 |
G |
T |
7: 119,965,488 (GRCm38) |
Q2651K |
probably benign |
Het |
| Eif4g2 |
T |
C |
7: 111,077,713 (GRCm38) |
|
probably null |
Het |
| Enc1 |
A |
G |
13: 97,245,491 (GRCm38) |
R170G |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,877,832 (GRCm38) |
R357G |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,499,836 (GRCm38) |
K58E |
possibly damaging |
Het |
| Fis1 |
A |
G |
5: 136,965,674 (GRCm38) |
|
probably null |
Het |
| Fmo9 |
A |
C |
1: 166,677,557 (GRCm38) |
M89R |
possibly damaging |
Het |
| Gm13119 |
T |
C |
4: 144,363,629 (GRCm38) |
M413T |
probably benign |
Het |
| Gm6096 |
A |
C |
7: 34,251,251 (GRCm38) |
I72L |
possibly damaging |
Het |
| Golga5 |
G |
A |
12: 102,484,481 (GRCm38) |
M464I |
probably benign |
Het |
| Got1l1 |
T |
C |
8: 27,198,436 (GRCm38) |
|
probably null |
Het |
| Igfbpl1 |
A |
G |
4: 45,813,517 (GRCm38) |
Y233H |
probably damaging |
Het |
| Il18r1 |
T |
C |
1: 40,474,763 (GRCm38) |
I43T |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,252,891 (GRCm38) |
N64D |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,055,071 (GRCm38) |
S44P |
probably damaging |
Het |
| Kif13b |
G |
T |
14: 64,738,567 (GRCm38) |
G444W |
probably damaging |
Het |
| Lmo1 |
A |
G |
7: 109,143,625 (GRCm38) |
C13R |
probably damaging |
Het |
| Lrfn2 |
T |
A |
17: 49,097,132 (GRCm38) |
M761K |
possibly damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,863,887 (GRCm38) |
I719T |
probably damaging |
Het |
| Madd |
A |
T |
2: 91,143,670 (GRCm38) |
V1423E |
probably damaging |
Het |
| Mbnl1 |
T |
A |
3: 60,621,328 (GRCm38) |
|
probably null |
Het |
| Mrps28 |
T |
C |
3: 8,900,037 (GRCm38) |
D114G |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,640,525 (GRCm38) |
M1412L |
probably benign |
Het |
| Myf6 |
T |
C |
10: 107,494,419 (GRCm38) |
K96E |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,219,798 (GRCm38) |
V462A |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,248,365 (GRCm38) |
S923P |
possibly damaging |
Het |
| Nckap1l |
T |
C |
15: 103,473,122 (GRCm38) |
L430P |
possibly damaging |
Het |
| Nfatc2ip |
C |
T |
7: 126,395,941 (GRCm38) |
|
probably null |
Het |
| Olfr1145 |
G |
T |
2: 87,810,087 (GRCm38) |
C89F |
probably damaging |
Het |
| Olfr1362 |
T |
C |
13: 21,611,649 (GRCm38) |
I107V |
probably benign |
Het |
| Olfr739 |
A |
G |
14: 50,425,205 (GRCm38) |
R229G |
probably benign |
Het |
| Olfr853 |
T |
A |
9: 19,537,718 (GRCm38) |
I71F |
possibly damaging |
Het |
| Plin2 |
A |
G |
4: 86,668,666 (GRCm38) |
V5A |
probably benign |
Het |
| Ptprm |
T |
A |
17: 66,688,300 (GRCm38) |
D1311V |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,930,714 (GRCm38) |
I72N |
probably damaging |
Het |
| Sall2 |
A |
T |
14: 52,313,191 (GRCm38) |
M847K |
probably benign |
Het |
| Slc23a1 |
T |
C |
18: 35,619,524 (GRCm38) |
R567G |
probably benign |
Het |
| Slc28a1 |
G |
A |
7: 81,125,005 (GRCm38) |
R200H |
probably benign |
Het |
| Smc4 |
T |
A |
3: 69,030,247 (GRCm38) |
Y843* |
probably null |
Het |
| Syne2 |
C |
A |
12: 75,921,220 (GRCm38) |
Q915K |
probably benign |
Het |
| Tas2r131 |
T |
A |
6: 132,957,022 (GRCm38) |
I275F |
probably damaging |
Het |
| Tm7sf3 |
A |
G |
6: 146,613,389 (GRCm38) |
F310S |
possibly damaging |
Het |
| Tmem9b |
T |
A |
7: 109,745,420 (GRCm38) |
|
probably null |
Het |
| Tnfaip8 |
A |
G |
18: 50,051,675 (GRCm38) |
|
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,838 (GRCm38) |
L835R |
probably damaging |
Het |
| Trappc8 |
A |
T |
18: 20,870,745 (GRCm38) |
S209T |
probably benign |
Het |
| Ttc26 |
T |
A |
6: 38,395,040 (GRCm38) |
N188K |
probably benign |
Het |
| Uap1 |
C |
T |
1: 170,166,733 (GRCm38) |
R58Q |
probably benign |
Het |
| Upk3bl |
A |
G |
5: 136,064,061 (GRCm38) |
|
probably null |
Het |
| Usp34 |
A |
G |
11: 23,446,778 (GRCm38) |
H596R |
probably damaging |
Het |
| Vmn1r181 |
C |
T |
7: 23,984,155 (GRCm38) |
A15V |
probably damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,631,956 (GRCm38) |
K350N |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,455,721 (GRCm38) |
H176R |
probably benign |
Het |
| Vwa7 |
A |
G |
17: 35,024,265 (GRCm38) |
R640G |
probably benign |
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 |
|
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 |
|
R8861:Tcf20
|
UTSW |
15 |
82,852,525 (GRCm38) |
missense |
probably damaging |
0.99 |
|
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'- GAGCTGTGCTGCTTGACTTC -3'
(R):5'- AGGACTGAGCCTAGCAAGTC -3'
Sequencing Primer
(F):5'- TTCCCATGGTCCCCAGTGG -3'
(R):5'- CCTAGCAAGTCTCCTGGAAGTTTG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation