Incidental Mutation 'IGL01684:Tcf20'
ID 103883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcf20
Ensembl Gene ENSMUSG00000041852
Gene Name transcription factor 20
Synonyms stromelysin 1 PDGF responsive element binding protein, 2810438H08Rik, SPBP
Accession Numbers
Essential gene? Possibly essential (E-score: 0.618) question?
Stock # IGL01684
Quality Score
Status
Chromosome 15
Chromosomal Location 82808436-82987872 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82857160 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 30 (F30S)
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: F30S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: F30S

DomainStartEndE-ValueType
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: F30S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: F30S

DomainStartEndE-ValueType
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: ENSMUST00000229439
AA Change: F30S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229547
AA Change: F30S

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230403
AA Change: F30S

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l G T 18: 31,771,768 (GRCm38) V21F probably damaging Het
Aox1 G A 1: 58,077,581 (GRCm38) probably null Het
BC024139 A G 15: 76,124,685 (GRCm38) L283P probably damaging Het
Cacna1h C T 17: 25,388,716 (GRCm38) G876S probably damaging Het
Ccdc66 T C 14: 27,500,249 (GRCm38) E179G possibly damaging Het
Ckap5 T G 2: 91,555,354 (GRCm38) D182E probably benign Het
Clk1 A G 1: 58,417,265 (GRCm38) probably null Het
Dhx34 G A 7: 16,203,279 (GRCm38) T831M probably damaging Het
Enox1 T C 14: 77,579,093 (GRCm38) I171T possibly damaging Het
Fscn2 G A 11: 120,367,305 (GRCm38) R351H probably damaging Het
Gabbr2 G A 4: 46,736,501 (GRCm38) S460L probably benign Het
Gramd1a A G 7: 31,138,905 (GRCm38) S308P possibly damaging Het
Guca1a T C 17: 47,395,143 (GRCm38) D137G probably null Het
Heatr5a G A 12: 51,955,511 (GRCm38) T214I probably benign Het
Klf7 T C 1: 64,120,892 (GRCm38) probably benign Het
Macf1 A G 4: 123,465,930 (GRCm38) S1854P probably damaging Het
Mau2 A T 8: 70,029,245 (GRCm38) probably benign Het
Mdn1 A G 4: 32,726,857 (GRCm38) I2639V probably benign Het
Mylk A G 16: 34,971,940 (GRCm38) M1544V possibly damaging Het
Ogdh G T 11: 6,342,546 (GRCm38) V420L probably damaging Het
Olfr1458 A G 19: 13,102,989 (GRCm38) F105S possibly damaging Het
Olfr532 T C 7: 140,418,915 (GRCm38) N286S probably damaging Het
Pcm1 A G 8: 41,257,923 (GRCm38) T77A probably benign Het
Piezo2 T A 18: 63,083,170 (GRCm38) I947F probably damaging Het
Prrc2c A T 1: 162,706,462 (GRCm38) probably benign Het
Ptch2 A G 4: 117,104,787 (GRCm38) E107G probably damaging Het
Rmdn3 T C 2: 119,147,574 (GRCm38) E182G probably damaging Het
Rpl23a-ps3 C T 14: 34,170,788 (GRCm38) noncoding transcript Het
Sorl1 T C 9: 41,980,711 (GRCm38) D1881G probably damaging Het
Tbc1d19 A G 5: 53,856,879 (GRCm38) N283S probably benign Het
Tiparp A T 3: 65,553,333 (GRCm38) K581I probably damaging Het
Tle3 T C 9: 61,403,446 (GRCm38) probably benign Het
Ubr3 C A 2: 70,016,158 (GRCm38) Y1608* probably null Het
Vmn1r59 T C 7: 5,454,300 (GRCm38) T154A probably benign Het
Vta1 A G 10: 14,684,131 (GRCm38) I115T probably damaging Het
Wwtr1 C A 3: 57,575,789 (GRCm38) R31L probably damaging Het
Zfp385b T C 2: 77,719,675 (GRCm38) D22G possibly damaging Het
Zfp516 A G 18: 82,957,201 (GRCm38) E508G probably damaging Het
Zfp735 T A 11: 73,690,365 (GRCm38) V76E possibly damaging Het
Other mutations in Tcf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Tcf20 APN 15 82,854,895 (GRCm38) missense probably damaging 1.00
IGL00229:Tcf20 APN 15 82,857,142 (GRCm38) missense possibly damaging 0.50
IGL00539:Tcf20 APN 15 82,852,756 (GRCm38) missense probably benign 0.41
IGL00576:Tcf20 APN 15 82,856,075 (GRCm38) missense probably damaging 1.00
IGL01135:Tcf20 APN 15 82,853,900 (GRCm38) missense probably benign
IGL01670:Tcf20 APN 15 82,855,363 (GRCm38) missense possibly damaging 0.77
IGL01767:Tcf20 APN 15 82,856,008 (GRCm38) missense probably damaging 1.00
IGL01825:Tcf20 APN 15 82,852,966 (GRCm38) missense probably benign
IGL01834:Tcf20 APN 15 82,855,697 (GRCm38) missense probably damaging 0.99
IGL01836:Tcf20 APN 15 82,855,155 (GRCm38) missense probably damaging 0.99
IGL02415:Tcf20 APN 15 82,853,459 (GRCm38) missense probably benign 0.28
IGL02731:Tcf20 APN 15 82,853,237 (GRCm38) missense probably benign 0.00
IGL02739:Tcf20 APN 15 82,856,080 (GRCm38) missense probably damaging 1.00
IGL03058:Tcf20 APN 15 82,852,004 (GRCm38) missense probably damaging 0.96
PIT4131001:Tcf20 UTSW 15 82,851,584 (GRCm38) missense probably damaging 0.96
R0184:Tcf20 UTSW 15 82,852,300 (GRCm38) missense probably damaging 0.99
R0207:Tcf20 UTSW 15 82,855,085 (GRCm38) missense probably benign
R0732:Tcf20 UTSW 15 82,852,303 (GRCm38) missense probably benign 0.07
R1502:Tcf20 UTSW 15 82,855,576 (GRCm38) missense probably damaging 1.00
R1575:Tcf20 UTSW 15 82,855,492 (GRCm38) missense probably benign 0.19
R1719:Tcf20 UTSW 15 82,852,777 (GRCm38) missense probably benign 0.03
R1997:Tcf20 UTSW 15 82,857,230 (GRCm38) nonsense probably null
R2152:Tcf20 UTSW 15 82,855,602 (GRCm38) missense probably damaging 1.00
R2173:Tcf20 UTSW 15 82,854,692 (GRCm38) missense possibly damaging 0.62
R2288:Tcf20 UTSW 15 82,851,685 (GRCm38) missense probably benign
R4049:Tcf20 UTSW 15 82,853,429 (GRCm38) missense probably damaging 1.00
R4496:Tcf20 UTSW 15 82,854,984 (GRCm38) missense probably damaging 1.00
R4704:Tcf20 UTSW 15 82,851,727 (GRCm38) missense possibly damaging 0.49
R4892:Tcf20 UTSW 15 82,854,199 (GRCm38) missense possibly damaging 0.80
R5164:Tcf20 UTSW 15 82,856,603 (GRCm38) missense probably damaging 1.00
R5207:Tcf20 UTSW 15 82,856,185 (GRCm38) missense probably damaging 0.98
R5219:Tcf20 UTSW 15 82,856,381 (GRCm38) missense probably damaging 1.00
R5228:Tcf20 UTSW 15 82,855,955 (GRCm38) missense probably benign 0.01
R5288:Tcf20 UTSW 15 82,855,709 (GRCm38) missense possibly damaging 0.50
R5374:Tcf20 UTSW 15 82,851,957 (GRCm38) missense probably damaging 0.99
R5384:Tcf20 UTSW 15 82,856,199 (GRCm38) missense probably damaging 0.99
R5677:Tcf20 UTSW 15 82,853,242 (GRCm38) missense probably benign 0.05
R5897:Tcf20 UTSW 15 82,851,783 (GRCm38) nonsense probably null
R6089:Tcf20 UTSW 15 82,853,208 (GRCm38) missense probably benign 0.06
R6196:Tcf20 UTSW 15 82,851,986 (GRCm38) missense possibly damaging 0.89
R6229:Tcf20 UTSW 15 82,854,880 (GRCm38) missense probably damaging 1.00
R6448:Tcf20 UTSW 15 82,852,660 (GRCm38) missense probably benign
R6688:Tcf20 UTSW 15 82,854,535 (GRCm38) missense possibly damaging 0.68
R7009:Tcf20 UTSW 15 82,854,682 (GRCm38) missense probably benign 0.07
R7051:Tcf20 UTSW 15 82,856,078 (GRCm38) missense probably damaging 1.00
R7215:Tcf20 UTSW 15 82,853,489 (GRCm38) missense probably benign
R7486:Tcf20 UTSW 15 82,853,734 (GRCm38) missense possibly damaging 0.78
R7583:Tcf20 UTSW 15 82,855,276 (GRCm38) missense possibly damaging 0.82
R7678:Tcf20 UTSW 15 82,851,565 (GRCm38) missense possibly damaging 0.92
R8090:Tcf20 UTSW 15 82,856,006 (GRCm38) missense probably damaging 1.00
R8156:Tcf20 UTSW 15 82,852,937 (GRCm38) missense probably benign 0.00
R8191:Tcf20 UTSW 15 82,853,405 (GRCm38) nonsense probably null
R8259:Tcf20 UTSW 15 82,852,273 (GRCm38) missense probably damaging 1.00
R8339:Tcf20 UTSW 15 82,852,676 (GRCm38) missense probably benign 0.04
R8447:Tcf20 UTSW 15 82,853,236 (GRCm38) missense possibly damaging 0.77
R8497:Tcf20 UTSW 15 82,855,951 (GRCm38) missense probably benign 0.07
R8728:Tcf20 UTSW 15 82,854,957 (GRCm38) missense probably damaging 1.00
R8829:Tcf20 UTSW 15 82,855,714 (GRCm38) missense probably damaging 1.00
R8861:Tcf20 UTSW 15 82,852,525 (GRCm38) missense probably damaging 0.99
R9177:Tcf20 UTSW 15 82,856,504 (GRCm38) missense probably benign 0.00
R9268:Tcf20 UTSW 15 82,856,504 (GRCm38) missense probably benign 0.00
R9294:Tcf20 UTSW 15 82,852,696 (GRCm38) missense probably benign 0.11
R9648:Tcf20 UTSW 15 82,855,675 (GRCm38) missense probably damaging 1.00
R9675:Tcf20 UTSW 15 82,856,785 (GRCm38) missense probably damaging 1.00
R9729:Tcf20 UTSW 15 82,851,836 (GRCm38) missense probably benign 0.25
RF019:Tcf20 UTSW 15 82,851,593 (GRCm38) missense probably benign 0.00
Posted On 2014-01-21