Incidental Mutation 'R4049:Tcf20'
| ID |
314066 |
| 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 |
041616-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.618)
|
| Stock # |
R4049 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82808436-82987872 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82853429 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1274
(S1274P)
|
| 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: S1274P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: S1274P
| 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: S1274P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: S1274P
| 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 |
0.1132 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,868,669 (GRCm38) |
E1190V |
probably damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,979,998 (GRCm38) |
T928A |
probably benign |
Het |
| Arhgef10l |
T |
A |
4: 140,515,451 (GRCm38) |
I836F |
probably benign |
Het |
| Blm |
T |
A |
7: 80,502,862 (GRCm38) |
T446S |
probably benign |
Het |
| Ccdc63 |
T |
A |
5: 122,122,750 (GRCm38) |
Q237L |
probably damaging |
Het |
| Cep57l1 |
G |
T |
10: 41,729,360 (GRCm38) |
R130S |
probably damaging |
Het |
| Clstn2 |
T |
G |
9: 97,457,560 (GRCm38) |
E786A |
possibly damaging |
Het |
| Col16a1 |
C |
T |
4: 130,068,752 (GRCm38) |
P540L |
probably damaging |
Het |
| Csf2 |
A |
G |
11: 54,249,333 (GRCm38) |
F61L |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 111,055,543 (GRCm38) |
R1094C |
unknown |
Het |
| Cyp3a41a |
A |
G |
5: 145,713,540 (GRCm38) |
C98R |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 62,827,165 (GRCm38) |
C404* |
probably null |
Het |
| Egfem1 |
A |
C |
3: 29,686,731 (GRCm38) |
H518P |
probably benign |
Het |
| Elf3 |
T |
C |
1: 135,254,277 (GRCm38) |
S369G |
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,838,577 (GRCm38) |
V503M |
probably damaging |
Het |
| Enthd1 |
T |
C |
15: 80,560,039 (GRCm38) |
D105G |
probably damaging |
Het |
| Eral1 |
A |
G |
11: 78,075,602 (GRCm38) |
L250P |
probably damaging |
Het |
| Gdf15 |
A |
T |
8: 70,629,955 (GRCm38) |
M167K |
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,053,699 (GRCm38) |
K300E |
probably benign |
Het |
| Gm8074 |
G |
A |
9: 78,322,336 (GRCm38) |
|
noncoding transcript |
Het |
| Herc3 |
A |
G |
6: 58,876,837 (GRCm38) |
I623V |
probably damaging |
Het |
| Mad1l1 |
A |
G |
5: 140,132,816 (GRCm38) |
S457P |
probably damaging |
Het |
| Map1lc3a |
G |
T |
2: 155,277,542 (GRCm38) |
V91F |
possibly damaging |
Het |
| Map4k3 |
A |
G |
17: 80,605,965 (GRCm38) |
V617A |
probably benign |
Het |
| Mov10l1 |
T |
A |
15: 88,995,032 (GRCm38) |
|
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,258,664 (GRCm38) |
S64G |
probably benign |
Het |
| Ncor1 |
G |
T |
11: 62,329,668 (GRCm38) |
|
probably null |
Het |
| Nfe2 |
C |
T |
15: 103,250,937 (GRCm38) |
E36K |
possibly damaging |
Het |
| Olfr1176 |
T |
C |
2: 88,343,800 (GRCm38) |
|
probably null |
Het |
| Olfr1212 |
A |
G |
2: 88,959,273 (GRCm38) |
K269R |
probably benign |
Het |
| Olfr1251 |
T |
C |
2: 89,667,662 (GRCm38) |
I75V |
probably benign |
Het |
| Olfr653 |
T |
C |
7: 104,580,368 (GRCm38) |
F241L |
probably benign |
Het |
| Oprm1 |
G |
A |
10: 6,829,087 (GRCm38) |
V95I |
probably benign |
Het |
| Pcdha9 |
T |
A |
18: 36,997,942 (GRCm38) |
H21Q |
probably benign |
Het |
| Pcolce2 |
A |
T |
9: 95,638,755 (GRCm38) |
I62F |
probably damaging |
Het |
| Pfpl |
T |
A |
19: 12,429,689 (GRCm38) |
C435S |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,498,557 (GRCm38) |
C542Y |
probably damaging |
Het |
| Plekha5 |
T |
C |
6: 140,583,871 (GRCm38) |
S75P |
probably damaging |
Het |
| Pphln1 |
C |
A |
15: 93,465,106 (GRCm38) |
A202E |
probably damaging |
Het |
| Ppp1r1a |
A |
G |
15: 103,532,454 (GRCm38) |
L92P |
probably damaging |
Het |
| Prokr2 |
T |
C |
2: 132,381,494 (GRCm38) |
T43A |
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,592,212 (GRCm38) |
N199S |
probably benign |
Het |
| Rasgrp2 |
T |
C |
19: 6,404,727 (GRCm38) |
L199P |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,482,448 (GRCm38) |
M4939L |
possibly damaging |
Het |
| Slc23a2 |
C |
T |
2: 132,060,683 (GRCm38) |
R533Q |
probably benign |
Het |
| Slc7a7 |
T |
C |
14: 54,373,091 (GRCm38) |
|
probably null |
Het |
| Snrpd2 |
T |
A |
7: 19,151,307 (GRCm38) |
V31E |
probably damaging |
Het |
| Spire1 |
G |
T |
18: 67,529,031 (GRCm38) |
|
probably null |
Het |
| Srsf4 |
T |
C |
4: 131,900,543 (GRCm38) |
|
probably benign |
Het |
| Tcof1 |
C |
A |
18: 60,832,903 (GRCm38) |
A376S |
possibly damaging |
Het |
| Thsd1 |
T |
A |
8: 22,243,164 (GRCm38) |
Y76N |
possibly damaging |
Het |
| Timm44 |
A |
G |
8: 4,260,561 (GRCm38) |
V397A |
probably benign |
Het |
| Tmc6 |
G |
A |
11: 117,778,261 (GRCm38) |
T89I |
possibly damaging |
Het |
| Trbv31 |
C |
A |
6: 41,557,705 (GRCm38) |
C107F |
probably damaging |
Het |
| Trim37 |
T |
A |
11: 87,140,603 (GRCm38) |
|
probably null |
Het |
| Ttll5 |
T |
C |
12: 86,012,799 (GRCm38) |
V1226A |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,412,870 (GRCm38) |
V865A |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,447,097 (GRCm38) |
M550K |
probably damaging |
Het |
| Vps54 |
C |
A |
11: 21,300,183 (GRCm38) |
T373N |
probably benign |
Het |
| Wdr64 |
T |
G |
1: 175,805,856 (GRCm38) |
I891S |
probably benign |
Het |
| Wisp2 |
A |
G |
2: 163,828,984 (GRCm38) |
D137G |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,398,859 (GRCm38) |
S1384L |
probably damaging |
Het |
| Zfp703 |
A |
G |
8: 26,979,085 (GRCm38) |
E259G |
possibly damaging |
Het |
| Zfp933 |
T |
C |
4: 147,826,512 (GRCm38) |
H209R |
probably damaging |
Het |
| Zfp980 |
A |
G |
4: 145,702,600 (GRCm38) |
H633R |
probably damaging |
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 |
|
|
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 |
|
R6229:Tcf20
|
UTSW |
15 |
82,854,880 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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'- TCCTGACTGTGAGAAAGATGG -3'
(R):5'- GCATGGAATTGAAGCACAGC -3'
Sequencing Primer
(F):5'- AAGATGGCTGTAGGAATTGTATGC -3'
(R):5'- GCTCTCAGAAGTTACAAGAGTCTTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation