Incidental Mutation 'R8090:Tcf20'
| ID |
629912 |
| 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 |
067523-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.692)
|
| Stock # |
R8090 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82692637-82872073 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82740207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 415
(S415P)
|
| 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: S415P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: S415P
| 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: S415P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: S415P
| 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: 98.5%
- 20x: 92.1%
|
| Validation Efficiency |
99% (73/74) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
T |
C |
11: 116,487,017 (GRCm39) |
C75R |
probably damaging |
Het |
| Ackr2 |
A |
G |
9: 121,738,045 (GRCm39) |
D140G |
possibly damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,596,953 (GRCm39) |
|
probably null |
Het |
| Arpp21 |
A |
G |
9: 111,945,769 (GRCm39) |
L593S |
unknown |
Het |
| Atn1 |
G |
A |
6: 124,722,304 (GRCm39) |
P850S |
unknown |
Het |
| Capn13 |
G |
A |
17: 73,689,849 (GRCm39) |
S54L |
probably benign |
Het |
| Cd1d2 |
C |
T |
3: 86,893,964 (GRCm39) |
P5S |
possibly damaging |
Het |
| Cgn |
A |
G |
3: 94,687,263 (GRCm39) |
V13A |
probably damaging |
Het |
| Clint1 |
T |
C |
11: 45,778,267 (GRCm39) |
V136A |
probably damaging |
Het |
| Cox5a |
T |
A |
9: 57,436,346 (GRCm39) |
L66M |
probably damaging |
Het |
| Crb2 |
G |
T |
2: 37,685,503 (GRCm39) |
C1205F |
probably damaging |
Het |
| Ddx3y |
C |
T |
Y: 1,264,897 (GRCm39) |
S519N |
probably benign |
Het |
| Defb50 |
G |
A |
8: 22,321,087 (GRCm39) |
G26S |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,131,606 (GRCm39) |
L1112P |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Gm9837 |
A |
G |
11: 53,361,065 (GRCm39) |
S50P |
unknown |
Het |
| Gon4l |
A |
G |
3: 88,799,931 (GRCm39) |
I859V |
probably damaging |
Het |
| Grin3a |
A |
T |
4: 49,714,224 (GRCm39) |
D840E |
probably damaging |
Het |
| Ifit2 |
T |
A |
19: 34,550,662 (GRCm39) |
N67K |
possibly damaging |
Het |
| Il17re |
G |
A |
6: 113,439,250 (GRCm39) |
W53* |
probably null |
Het |
| Kbtbd4 |
A |
T |
2: 90,736,183 (GRCm39) |
|
probably benign |
Het |
| Krt25 |
T |
A |
11: 99,207,416 (GRCm39) |
|
probably null |
Het |
| Krt26 |
T |
C |
11: 99,227,315 (GRCm39) |
M171V |
probably benign |
Het |
| Lrba |
T |
C |
3: 86,255,796 (GRCm39) |
L1046S |
probably benign |
Het |
| Lrp2 |
G |
T |
2: 69,295,089 (GRCm39) |
P3410T |
possibly damaging |
Het |
| Madd |
T |
C |
2: 90,985,968 (GRCm39) |
K1241R |
probably benign |
Het |
| Mcm8 |
T |
G |
2: 132,673,569 (GRCm39) |
S402A |
probably benign |
Het |
| Mpc1 |
A |
C |
17: 8,515,705 (GRCm39) |
Q74H |
probably benign |
Het |
| Mroh4 |
A |
G |
15: 74,496,550 (GRCm39) |
V279A |
probably benign |
Het |
| Muc21 |
G |
C |
17: 35,932,617 (GRCm39) |
T523S |
unknown |
Het |
| Ndufs2 |
A |
T |
1: 171,064,247 (GRCm39) |
H380Q |
probably damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,465 (GRCm39) |
L72P |
possibly damaging |
Het |
| Nme6 |
T |
A |
9: 109,671,019 (GRCm39) |
L73* |
probably null |
Het |
| Odf2l |
G |
T |
3: 144,832,796 (GRCm39) |
A85S |
probably damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,214,048 (GRCm39) |
I146K |
probably benign |
Het |
| P4ha3 |
T |
A |
7: 99,949,859 (GRCm39) |
C109S |
probably damaging |
Het |
| Plpp6 |
C |
T |
19: 28,942,271 (GRCm39) |
Q291* |
probably null |
Het |
| Plxnd1 |
G |
A |
6: 115,933,578 (GRCm39) |
A1855V |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,096,345 (GRCm39) |
H249Q |
possibly damaging |
Het |
| Rnf149 |
C |
A |
1: 39,616,304 (GRCm39) |
A18S |
unknown |
Het |
| Scara5 |
C |
T |
14: 65,979,586 (GRCm39) |
R368* |
probably null |
Het |
| Sfmbt2 |
G |
A |
2: 10,466,190 (GRCm39) |
D342N |
probably benign |
Het |
| Shank3 |
T |
A |
15: 89,389,661 (GRCm39) |
|
probably null |
Het |
| Slc22a27 |
A |
G |
19: 7,843,101 (GRCm39) |
|
probably null |
Het |
| Srgap3 |
G |
T |
6: 112,757,996 (GRCm39) |
Y170* |
probably null |
Het |
| Szt2 |
A |
T |
4: 118,244,199 (GRCm39) |
|
probably null |
Het |
| Tbccd1 |
A |
G |
16: 22,660,805 (GRCm39) |
S4P |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,982,369 (GRCm39) |
S487P |
probably damaging |
Het |
| Trim26 |
A |
G |
17: 37,167,640 (GRCm39) |
Q300R |
possibly damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Yif1b |
A |
G |
7: 28,943,726 (GRCm39) |
N93S |
probably benign |
Het |
| Zdhhc22 |
C |
A |
12: 87,030,394 (GRCm39) |
V185F |
probably benign |
Het |
| Zfp638 |
G |
T |
6: 83,906,801 (GRCm39) |
S322I |
probably damaging |
Het |
| Zfp786 |
T |
A |
6: 47,796,943 (GRCm39) |
H665L |
probably damaging |
Het |
| Zfp799 |
C |
T |
17: 33,039,949 (GRCm39) |
V106I |
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 |
|
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 |
|
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'- TGGCCACTTGACTACTCAAAG -3'
(R):5'- GCAGTACACAAATGCTGCC -3'
Sequencing Primer
(F):5'- AGGATCAGTCAGCCGCTTTTC -3'
(R):5'- TGCCACCAAGATGCCTCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation