Incidental Mutation 'IGL02415:Tcf20'
| ID |
292419 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tcf20
|
| Ensembl Gene |
ENSMUSG00000041852 |
| Gene Name |
transcription factor 20 |
| Synonyms |
SPBP, stromelysin 1 PDGF responsive element binding protein, 2810438H08Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.692)
|
| Stock # |
IGL02415
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82692637-82872073 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82737660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1264
(M1264L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048966]
[ENSMUST00000109510]
[ENSMUST00000229439]
[ENSMUST00000229547]
[ENSMUST00000230403]
|
| AlphaFold |
Q9EPQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048966
AA Change: M1264L
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: M1264L
| 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: M1264L
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: M1264L
| 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 |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
C |
9: 122,777,056 (GRCm39) |
D124G |
probably benign |
Het |
| Adamts13 |
T |
A |
2: 26,879,295 (GRCm39) |
I616N |
possibly damaging |
Het |
| Adamts3 |
T |
C |
5: 89,854,506 (GRCm39) |
|
probably null |
Het |
| Amy1 |
T |
C |
3: 113,357,234 (GRCm39) |
I202V |
probably benign |
Het |
| Bdp1 |
G |
A |
13: 100,225,916 (GRCm39) |
T322I |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,264,316 (GRCm39) |
L110S |
probably damaging |
Het |
| Cep72 |
T |
C |
13: 74,198,273 (GRCm39) |
D369G |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,239,739 (GRCm39) |
|
probably benign |
Het |
| Ckmt2 |
G |
A |
13: 92,011,459 (GRCm39) |
|
probably benign |
Het |
| Cyp2s1 |
T |
C |
7: 25,507,562 (GRCm39) |
T296A |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,668,957 (GRCm39) |
V283E |
probably benign |
Het |
| Eeig2 |
A |
G |
3: 108,887,608 (GRCm39) |
Y219H |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,019,498 (GRCm39) |
T658A |
probably damaging |
Het |
| Gml |
A |
T |
15: 74,688,289 (GRCm39) |
Y59* |
probably null |
Het |
| Kmo |
A |
T |
1: 175,476,889 (GRCm39) |
|
probably benign |
Het |
| Krt25 |
A |
T |
11: 99,213,398 (GRCm39) |
I107N |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,744,111 (GRCm39) |
M773V |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Med12 |
T |
C |
X: 100,325,396 (GRCm39) |
V761A |
probably damaging |
Het |
| Mrpl19 |
T |
C |
6: 81,940,942 (GRCm39) |
T150A |
probably benign |
Het |
| Muc2 |
G |
T |
7: 141,305,609 (GRCm39) |
E646* |
probably null |
Het |
| Muc20 |
T |
A |
16: 32,615,051 (GRCm39) |
T109S |
unknown |
Het |
| Nr2f6 |
T |
C |
8: 71,827,156 (GRCm39) |
T382A |
probably benign |
Het |
| Nrap |
A |
G |
19: 56,370,741 (GRCm39) |
I172T |
probably damaging |
Het |
| Or5an1 |
A |
G |
19: 12,260,862 (GRCm39) |
Y150C |
probably benign |
Het |
| Or8b47 |
T |
C |
9: 38,435,408 (GRCm39) |
C127R |
probably benign |
Het |
| P3h1 |
A |
T |
4: 119,105,152 (GRCm39) |
Q710L |
probably benign |
Het |
| Parvb |
A |
G |
15: 84,177,016 (GRCm39) |
H185R |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,484,645 (GRCm39) |
I1970T |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,592,983 (GRCm39) |
Y1710C |
probably damaging |
Het |
| Plxna2 |
C |
A |
1: 194,326,272 (GRCm39) |
R69S |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,506,930 (GRCm39) |
N284S |
possibly damaging |
Het |
| Reln |
T |
A |
5: 22,176,949 (GRCm39) |
S1906C |
possibly damaging |
Het |
| Rln1 |
T |
C |
19: 29,311,798 (GRCm39) |
R67G |
probably damaging |
Het |
| Shcbp1 |
C |
T |
8: 4,804,239 (GRCm39) |
V224I |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,260,172 (GRCm39) |
|
probably null |
Het |
| Stx6 |
A |
G |
1: 155,069,059 (GRCm39) |
E195G |
possibly damaging |
Het |
| Sult2b1 |
G |
T |
7: 45,391,509 (GRCm39) |
D90E |
possibly damaging |
Het |
| Taok1 |
A |
G |
11: 77,431,066 (GRCm39) |
|
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,259,826 (GRCm39) |
M566L |
probably benign |
Het |
| Tcaf1 |
C |
T |
6: 42,663,584 (GRCm39) |
A99T |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,523,281 (GRCm39) |
V1571M |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,288,726 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
C |
A |
2: 120,801,084 (GRCm39) |
|
probably benign |
Het |
| Ulk1 |
T |
C |
5: 110,935,487 (GRCm39) |
D926G |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,804,033 (GRCm39) |
I181V |
probably benign |
Het |
| Vmn2r66 |
G |
A |
7: 84,656,020 (GRCm39) |
T332I |
probably damaging |
Het |
| Wdr1 |
C |
A |
5: 38,688,453 (GRCm39) |
D161Y |
probably damaging |
Het |
| Wnt7a |
T |
C |
6: 91,371,539 (GRCm39) |
Y141C |
probably damaging |
Het |
| Xrra1 |
G |
A |
7: 99,565,150 (GRCm39) |
E573K |
probably benign |
Het |
| Zfp334 |
G |
T |
2: 165,223,771 (GRCm39) |
Q91K |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation