Incidental Mutation 'IGL01767:Tcf20'
| ID |
153357 |
| 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? |
Probably essential
(E-score: 0.775)
|
| Stock # |
IGL01767
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82692637-82872073 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 82740209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 414
(P414L)
|
| 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: P414L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: P414L
| 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: P414L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: P414L
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
A |
T |
8: 60,960,126 (GRCm39) |
D31V |
probably damaging |
Het |
| Acaca |
A |
T |
11: 84,211,368 (GRCm39) |
Y1560F |
probably benign |
Het |
| Actl7a |
A |
G |
4: 56,743,980 (GRCm39) |
E169G |
probably damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,598,895 (GRCm39) |
V270A |
probably benign |
Het |
| Adgre4 |
G |
A |
17: 56,104,740 (GRCm39) |
V269I |
probably benign |
Het |
| Ankhd1 |
A |
G |
18: 36,781,427 (GRCm39) |
T2160A |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,095,512 (GRCm39) |
V4505A |
probably benign |
Het |
| Bnip2 |
T |
A |
9: 69,909,398 (GRCm39) |
|
probably benign |
Het |
| Casp16 |
A |
G |
17: 23,771,027 (GRCm39) |
V126A |
probably damaging |
Het |
| Ccser1 |
C |
A |
6: 61,695,136 (GRCm39) |
T157K |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,151,503 (GRCm39) |
S2459P |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,804,291 (GRCm39) |
C21S |
probably damaging |
Het |
| Chmp6 |
G |
A |
11: 119,807,812 (GRCm39) |
E72K |
probably benign |
Het |
| Cldn23 |
T |
C |
8: 36,292,816 (GRCm39) |
Y224C |
probably damaging |
Het |
| Cry1 |
C |
T |
10: 84,982,338 (GRCm39) |
G336D |
probably damaging |
Het |
| Cyp4f17 |
T |
A |
17: 32,725,956 (GRCm39) |
F30I |
probably benign |
Het |
| Dgcr8 |
T |
A |
16: 18,096,200 (GRCm39) |
D496V |
probably damaging |
Het |
| Dhx9 |
A |
G |
1: 153,344,614 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
C |
T |
5: 124,820,801 (GRCm39) |
|
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,860,282 (GRCm39) |
E880G |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,456,136 (GRCm39) |
V1264A |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,331,167 (GRCm39) |
Y270H |
probably benign |
Het |
| Eprs1 |
A |
G |
1: 185,117,112 (GRCm39) |
D385G |
probably damaging |
Het |
| Ercc2 |
A |
G |
7: 19,124,346 (GRCm39) |
Y215C |
probably damaging |
Het |
| Fscn2 |
A |
G |
11: 120,258,576 (GRCm39) |
N400S |
possibly damaging |
Het |
| Fuca1 |
C |
T |
4: 135,666,512 (GRCm39) |
T449I |
probably benign |
Het |
| Gm43638 |
T |
C |
5: 87,613,290 (GRCm39) |
K492E |
probably damaging |
Het |
| Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8122 |
T |
C |
14: 43,090,158 (GRCm39) |
T111A |
unknown |
Het |
| Gtf3c2 |
T |
A |
5: 31,314,979 (GRCm39) |
N923Y |
probably benign |
Het |
| Il17a |
T |
A |
1: 20,803,864 (GRCm39) |
D86E |
probably benign |
Het |
| Itgb2l |
G |
T |
16: 96,231,775 (GRCm39) |
N330K |
probably benign |
Het |
| Kcnj11 |
T |
C |
7: 45,748,489 (GRCm39) |
H278R |
probably benign |
Het |
| Khdrbs2 |
T |
A |
1: 32,658,257 (GRCm39) |
Y272* |
probably null |
Het |
| Kndc1 |
A |
T |
7: 139,509,959 (GRCm39) |
Q1267L |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,374,120 (GRCm39) |
F64I |
possibly damaging |
Het |
| Lrig2 |
T |
A |
3: 104,398,861 (GRCm39) |
K222N |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,612,332 (GRCm39) |
Y378N |
probably damaging |
Het |
| Mblac2 |
T |
C |
13: 81,898,434 (GRCm39) |
L270P |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,210,609 (GRCm39) |
I511N |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,428,033 (GRCm39) |
E763D |
probably damaging |
Het |
| Or1e25 |
T |
A |
11: 73,493,858 (GRCm39) |
F151I |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or4a68 |
C |
T |
2: 89,270,144 (GRCm39) |
V160I |
probably benign |
Het |
| Or5b97 |
T |
A |
19: 12,879,112 (GRCm39) |
T11S |
probably benign |
Het |
| Or7g27 |
G |
A |
9: 19,250,598 (GRCm39) |
V281I |
possibly damaging |
Het |
| Plxna4 |
T |
A |
6: 32,214,613 (GRCm39) |
I623F |
possibly damaging |
Het |
| Ppp2ca |
T |
A |
11: 52,008,882 (GRCm39) |
Y127* |
probably null |
Het |
| Psg18 |
A |
G |
7: 18,087,322 (GRCm39) |
V112A |
possibly damaging |
Het |
| Ptprj |
A |
T |
2: 90,299,918 (GRCm39) |
N108K |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,806,865 (GRCm39) |
Y707C |
probably damaging |
Het |
| Rptn |
T |
C |
3: 93,302,946 (GRCm39) |
F93S |
probably benign |
Het |
| Rxrg |
T |
A |
1: 167,454,884 (GRCm39) |
C156S |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,189,946 (GRCm39) |
|
probably benign |
Het |
| Slc25a27 |
C |
T |
17: 43,974,964 (GRCm39) |
|
probably null |
Het |
| Slx4 |
T |
C |
16: 3,808,112 (GRCm39) |
K481E |
probably benign |
Het |
| Snx19 |
T |
C |
9: 30,374,560 (GRCm39) |
W940R |
possibly damaging |
Het |
| Spopfm1 |
T |
A |
3: 94,173,791 (GRCm39) |
D262E |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,626,633 (GRCm39) |
P1106S |
probably benign |
Het |
| Treml2 |
T |
C |
17: 48,609,838 (GRCm39) |
V90A |
probably benign |
Het |
| Uckl1 |
C |
T |
2: 181,211,327 (GRCm39) |
V501M |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,108,256 (GRCm39) |
T1937I |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,567,903 (GRCm39) |
I9F |
probably benign |
Het |
| Vmn2r44 |
T |
C |
7: 8,383,237 (GRCm39) |
H119R |
probably benign |
Het |
| Vmn2r78 |
A |
G |
7: 86,603,643 (GRCm39) |
D607G |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,641,258 (GRCm39) |
G2288D |
probably damaging |
Het |
| Znfx1 |
G |
T |
2: 166,897,643 (GRCm39) |
T427N |
probably 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 |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation