Incidental Mutation 'IGL00229:Tcf20'
| ID |
2125 |
| 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 # |
IGL00229
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82692637-82872073 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82741343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 36
(Q36L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048966]
[ENSMUST00000109510]
[ENSMUST00000229439]
[ENSMUST00000229547]
[ENSMUST00000230403]
|
| AlphaFold |
Q9EPQ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048966
AA Change: Q36L
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: Q36L
| 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 |
possibly damaging
Transcript: ENSMUST00000109510
AA Change: Q36L
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: Q36L
| 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
AA Change: Q36L
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229547
AA Change: Q36L
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230403
AA Change: Q36L
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,964,603 (GRCm39) |
T929A |
probably damaging |
Het |
| Adam6b |
G |
A |
12: 113,455,013 (GRCm39) |
R610H |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,311,685 (GRCm39) |
M1314K |
probably benign |
Het |
| Alg6 |
T |
A |
4: 99,641,291 (GRCm39) |
F152I |
probably damaging |
Het |
| Aopep |
A |
G |
13: 63,347,314 (GRCm39) |
|
probably benign |
Het |
| Arid5b |
A |
G |
10: 67,964,805 (GRCm39) |
S289P |
probably damaging |
Het |
| Axin1 |
T |
C |
17: 26,413,046 (GRCm39) |
F780L |
probably damaging |
Het |
| C9 |
C |
T |
15: 6,512,712 (GRCm39) |
S278L |
possibly damaging |
Het |
| Calr4 |
A |
T |
4: 109,101,312 (GRCm39) |
I65F |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,359,327 (GRCm39) |
V260A |
probably benign |
Het |
| Ddx25 |
T |
C |
9: 35,454,891 (GRCm39) |
|
probably benign |
Het |
| Dppa4 |
A |
G |
16: 48,111,446 (GRCm39) |
T92A |
possibly damaging |
Het |
| Ercc5 |
T |
C |
1: 44,203,058 (GRCm39) |
Y232H |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,895,334 (GRCm39) |
|
probably null |
Het |
| Fam149a |
A |
G |
8: 45,804,823 (GRCm39) |
V253A |
probably damaging |
Het |
| Fam209 |
C |
T |
2: 172,316,102 (GRCm39) |
T159I |
probably damaging |
Het |
| Gcfc2 |
A |
T |
6: 81,912,996 (GRCm39) |
N265I |
probably damaging |
Het |
| Glud1 |
T |
C |
14: 34,058,087 (GRCm39) |
V366A |
probably benign |
Het |
| Hdac10 |
T |
C |
15: 89,012,645 (GRCm39) |
T3A |
probably damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,286,670 (GRCm39) |
S54P |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,045,683 (GRCm39) |
Y2561C |
probably damaging |
Het |
| Klhl30 |
A |
G |
1: 91,281,879 (GRCm39) |
E160G |
possibly damaging |
Het |
| Kmt2d |
A |
T |
15: 98,760,214 (GRCm39) |
S1015T |
unknown |
Het |
| Lactb2 |
A |
G |
1: 13,730,598 (GRCm39) |
M26T |
probably damaging |
Het |
| Lactbl1 |
A |
T |
4: 136,358,362 (GRCm39) |
D111V |
probably damaging |
Het |
| Lig4 |
T |
C |
8: 10,022,775 (GRCm39) |
Y335C |
probably damaging |
Het |
| Lrrc8e |
T |
A |
8: 4,285,921 (GRCm39) |
D715E |
probably benign |
Het |
| Med6 |
A |
T |
12: 81,626,348 (GRCm39) |
V142D |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mettl13 |
A |
G |
1: 162,363,434 (GRCm39) |
V600A |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,228,461 (GRCm39) |
C1314* |
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,464,937 (GRCm39) |
V1009A |
probably damaging |
Het |
| Nmur2 |
A |
G |
11: 55,931,603 (GRCm39) |
L36P |
probably damaging |
Het |
| Nudt2 |
T |
A |
4: 41,480,474 (GRCm39) |
L119Q |
probably damaging |
Het |
| Or5b117 |
T |
C |
19: 13,431,204 (GRCm39) |
M226V |
possibly damaging |
Het |
| Osbpl3 |
C |
T |
6: 50,300,048 (GRCm39) |
E519K |
probably damaging |
Het |
| Pak6 |
A |
T |
2: 118,520,326 (GRCm39) |
T106S |
possibly damaging |
Het |
| Pggt1b |
T |
G |
18: 46,413,786 (GRCm39) |
Q34P |
probably benign |
Het |
| Phactr4 |
T |
C |
4: 132,098,303 (GRCm39) |
T322A |
possibly damaging |
Het |
| Plekhj1 |
T |
C |
10: 80,632,436 (GRCm39) |
|
probably null |
Het |
| Pnpt1 |
T |
C |
11: 29,104,217 (GRCm39) |
|
probably null |
Het |
| Pramel32 |
A |
G |
4: 88,547,290 (GRCm39) |
I214T |
probably damaging |
Het |
| Prr14l |
T |
C |
5: 32,988,020 (GRCm39) |
I492V |
probably benign |
Het |
| Ranbp2 |
C |
A |
10: 58,313,078 (GRCm39) |
A1266E |
probably damaging |
Het |
| Riok3 |
G |
A |
18: 12,270,077 (GRCm39) |
D140N |
probably damaging |
Het |
| Rsph4a |
G |
A |
10: 33,790,339 (GRCm39) |
E643K |
probably damaging |
Het |
| Scara3 |
T |
G |
14: 66,170,570 (GRCm39) |
E103A |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,938,609 (GRCm39) |
V33A |
probably damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,897,375 (GRCm39) |
F480S |
probably damaging |
Het |
| Slc44a1 |
G |
A |
4: 53,543,571 (GRCm39) |
V372M |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,806,897 (GRCm39) |
Y728C |
probably benign |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Spidr |
A |
T |
16: 15,713,442 (GRCm39) |
L847Q |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,667,527 (GRCm39) |
S857P |
probably benign |
Het |
| Syde1 |
A |
G |
10: 78,421,643 (GRCm39) |
V636A |
probably damaging |
Het |
| Syna |
A |
G |
5: 134,588,571 (GRCm39) |
L126P |
possibly damaging |
Het |
| Taar2 |
A |
G |
10: 23,817,266 (GRCm39) |
T269A |
possibly damaging |
Het |
| Tapbp |
C |
T |
17: 34,144,678 (GRCm39) |
T258I |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,849,807 (GRCm39) |
M260K |
probably damaging |
Het |
| Tnc |
T |
A |
4: 63,935,061 (GRCm39) |
|
probably benign |
Het |
| Ugp2 |
T |
A |
11: 21,304,345 (GRCm39) |
E27D |
probably benign |
Het |
| Vps35l |
T |
A |
7: 118,403,414 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,148,572 (GRCm39) |
C140* |
probably null |
Het |
| Wnt2b |
T |
C |
3: 104,860,449 (GRCm39) |
T153A |
possibly damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,719 (GRCm39) |
T1987S |
probably benign |
Het |
| Zfp36l1 |
C |
A |
12: 80,157,238 (GRCm39) |
G48C |
probably damaging |
Het |
| Zfp474 |
A |
T |
18: 52,771,565 (GRCm39) |
I73F |
possibly damaging |
Het |
| Zfp790 |
T |
A |
7: 29,527,988 (GRCm39) |
F224L |
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 |
|
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 |
|
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 |
2011-12-09 |
Incidental Mutation