Incidental Mutation 'R9268:Tcf20'
ID |
702705 |
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 |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.692)
|
Stock # |
R9268 (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 82740705 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 249
(S249P)
|
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: S249P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000048486 Gene: ENSMUSG00000041852 AA Change: S249P
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: S249P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000105136 Gene: ENSMUSG00000041852 AA Change: S249P
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (64/64) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
A |
G |
3: 89,969,030 (GRCm39) |
T218A |
possibly damaging |
Het |
Acadsb |
C |
T |
7: 131,033,763 (GRCm39) |
T260I |
probably damaging |
Het |
Acap2 |
A |
T |
16: 30,955,392 (GRCm39) |
V161E |
probably damaging |
Het |
Adnp |
A |
G |
2: 168,031,233 (GRCm39) |
I26T |
possibly damaging |
Het |
Alk |
T |
C |
17: 72,181,190 (GRCm39) |
T1367A |
probably damaging |
Het |
Apoa5 |
A |
T |
9: 46,181,719 (GRCm39) |
D265V |
probably benign |
Het |
Asb15 |
G |
A |
6: 24,566,298 (GRCm39) |
R417H |
probably benign |
Het |
Atg2a |
A |
C |
19: 6,291,905 (GRCm39) |
H27P |
probably damaging |
Het |
Bace1 |
G |
T |
9: 45,767,282 (GRCm39) |
|
probably benign |
Het |
Camk1d |
A |
G |
2: 5,303,901 (GRCm39) |
S351P |
probably benign |
Het |
Carf |
C |
A |
1: 60,148,558 (GRCm39) |
Q85K |
possibly damaging |
Het |
Cdh19 |
A |
G |
1: 110,877,111 (GRCm39) |
F76S |
probably damaging |
Het |
Ces1b |
A |
C |
8: 93,798,583 (GRCm39) |
V201G |
probably damaging |
Het |
Clk1 |
A |
G |
1: 58,458,882 (GRCm39) |
L133S |
unknown |
Het |
Clstn3 |
G |
A |
6: 124,433,880 (GRCm39) |
L427F |
probably damaging |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Cyp2j11 |
A |
T |
4: 96,207,781 (GRCm39) |
|
probably benign |
Het |
Dctn4 |
T |
A |
18: 60,659,304 (GRCm39) |
M1K |
probably null |
Het |
Dnah12 |
A |
G |
14: 26,571,255 (GRCm39) |
K2788R |
possibly damaging |
Het |
Dtna |
T |
A |
18: 23,702,643 (GRCm39) |
V58D |
possibly damaging |
Het |
Egfr |
T |
A |
11: 16,855,410 (GRCm39) |
D898E |
probably damaging |
Het |
Eif2ak4 |
G |
C |
2: 118,271,701 (GRCm39) |
|
probably null |
Het |
Enam |
A |
G |
5: 88,640,778 (GRCm39) |
M147V |
probably benign |
Het |
Etaa1 |
A |
T |
11: 17,896,419 (GRCm39) |
V566E |
probably damaging |
Het |
F13a1 |
C |
T |
13: 37,076,910 (GRCm39) |
G593D |
probably benign |
Het |
Far2 |
C |
T |
6: 148,060,418 (GRCm39) |
T257I |
probably benign |
Het |
Fat4 |
C |
T |
3: 38,942,396 (GRCm39) |
R430C |
probably damaging |
Het |
Fhod3 |
T |
C |
18: 24,842,832 (GRCm39) |
|
probably null |
Het |
Fuca2 |
G |
A |
10: 13,390,563 (GRCm39) |
W453* |
probably null |
Het |
Hjv |
T |
C |
3: 96,435,881 (GRCm39) |
F380L |
probably benign |
Het |
Hycc2 |
T |
C |
1: 58,591,361 (GRCm39) |
D94G |
probably damaging |
Het |
Ift70a1 |
A |
T |
2: 75,811,279 (GRCm39) |
V268E |
probably benign |
Het |
Igkv4-72 |
A |
T |
6: 69,203,980 (GRCm39) |
Y70* |
probably null |
Het |
Kdm1b |
A |
C |
13: 47,217,705 (GRCm39) |
N388T |
probably benign |
Het |
Klri2 |
A |
T |
6: 129,710,037 (GRCm39) |
W188R |
probably damaging |
Het |
Lama4 |
A |
G |
10: 38,950,688 (GRCm39) |
Y997C |
probably damaging |
Het |
Lrrc73 |
T |
C |
17: 46,565,535 (GRCm39) |
S89P |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,367,582 (GRCm39) |
E2393G |
probably damaging |
Het |
Mfsd14b |
A |
G |
13: 65,222,855 (GRCm39) |
L265P |
probably damaging |
Het |
Msantd5f3 |
T |
C |
4: 73,575,373 (GRCm39) |
S351P |
probably damaging |
Het |
Myo3b |
A |
C |
2: 70,257,305 (GRCm39) |
*1334C |
probably null |
Het |
Nfatc4 |
A |
T |
14: 56,064,685 (GRCm39) |
I391F |
probably damaging |
Het |
Nlgn1 |
A |
T |
3: 25,490,548 (GRCm39) |
M393K |
probably damaging |
Het |
Or5h17 |
T |
G |
16: 58,820,083 (GRCm39) |
F12V |
probably damaging |
Het |
Or9i14 |
A |
T |
19: 13,792,388 (GRCm39) |
C189S |
probably damaging |
Het |
Otogl |
A |
T |
10: 107,616,917 (GRCm39) |
C1787S |
probably damaging |
Het |
Papola |
A |
G |
12: 105,766,032 (GRCm39) |
E44G |
probably benign |
Het |
Parp1 |
A |
G |
1: 180,415,509 (GRCm39) |
K443E |
possibly damaging |
Het |
Pcdh15 |
A |
T |
10: 74,479,455 (GRCm39) |
E522V |
probably benign |
Het |
Peli2 |
A |
G |
14: 48,518,927 (GRCm39) |
E225G |
probably benign |
Het |
Pus7l |
T |
C |
15: 94,431,445 (GRCm39) |
I395V |
probably benign |
Het |
Rmi1 |
T |
C |
13: 58,555,853 (GRCm39) |
I34T |
probably damaging |
Het |
Rnf220 |
A |
G |
4: 117,346,833 (GRCm39) |
I193T |
probably benign |
Het |
Rpgrip1l |
T |
C |
8: 92,007,355 (GRCm39) |
T412A |
probably benign |
Het |
Shisa7 |
T |
G |
7: 4,837,333 (GRCm39) |
D244A |
probably damaging |
Het |
Slco3a1 |
T |
C |
7: 73,952,946 (GRCm39) |
T538A |
probably benign |
Het |
Sptlc1 |
A |
T |
13: 53,512,872 (GRCm39) |
I162N |
probably damaging |
Het |
Ssrp1 |
C |
A |
2: 84,870,606 (GRCm39) |
|
probably benign |
Het |
Sytl2 |
A |
G |
7: 90,034,359 (GRCm39) |
N523S |
probably benign |
Het |
Thumpd3 |
T |
A |
6: 113,043,819 (GRCm39) |
F411L |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,768,079 (GRCm39) |
W3007R |
unknown |
Het |
Ulbp1 |
A |
T |
10: 7,396,392 (GRCm39) |
L295Q |
unknown |
Het |
Vmn1r29 |
T |
A |
6: 58,284,577 (GRCm39) |
V99E |
probably damaging |
Het |
Wdr47 |
T |
C |
3: 108,525,812 (GRCm39) |
F112L |
probably benign |
Het |
Wnk2 |
A |
G |
13: 49,235,507 (GRCm39) |
V636A |
possibly damaging |
Het |
Zswim8 |
T |
C |
14: 20,761,908 (GRCm39) |
L227P |
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 |
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 |
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'- CCTGGTGGAATCTTTGCCTG -3'
(R):5'- CAGTATCAACAGCAGGCCTCTAG -3'
Sequencing Primer
(F):5'- TTTTTCATAGACTGAGGTTGATAGC -3'
(R):5'- GCAACAGCAGCAGCAAGTACAG -3'
|
Posted On |
2022-03-25 |