Incidental Mutation 'R7583:Tcf20'
ID 586920
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 045666-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.692) question?
Stock # R7583 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 82692637-82872073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82739477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 658 (E658G)
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: E658G

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: E658G

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 possibly damaging
Transcript: ENSMUST00000109510
AA Change: E658G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: E658G

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 benign
Transcript: ENSMUST00000229439
Predicted Effect probably benign
Transcript: ENSMUST00000229547
Predicted Effect probably benign
Transcript: ENSMUST00000230403
Meta Mutation Damage Score 0.0737 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (95/96)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,569,670 (GRCm39) D462V probably damaging Het
Abcc1 T C 16: 14,221,902 (GRCm39) W222R probably damaging Het
Adamts13 A G 2: 26,863,965 (GRCm39) K48E probably benign Het
Adgrd1 A C 5: 129,256,652 (GRCm39) T674P probably benign Het
Agbl4 A T 4: 110,976,150 (GRCm39) Y169F possibly damaging Het
Ahnak T A 19: 8,983,457 (GRCm39) N1580K possibly damaging Het
Angptl8 A C 9: 21,747,210 (GRCm39) probably null Het
Ap3d1 G A 10: 80,545,292 (GRCm39) T1053I probably benign Het
Atad2 T C 15: 57,990,060 (GRCm39) T139A probably benign Het
Bdp1 T A 13: 100,186,320 (GRCm39) T1711S probably damaging Het
Bod1l T C 5: 41,991,133 (GRCm39) I141V probably damaging Het
Cavin2 A T 1: 51,328,777 (GRCm39) N78I possibly damaging Het
Ccnb1 T C 13: 100,916,262 (GRCm39) H406R probably benign Het
Cd200r4 A G 16: 44,653,784 (GRCm39) T194A probably damaging Het
Cdt1 G A 8: 123,296,995 (GRCm39) R263H probably damaging Het
Cep85l A T 10: 53,157,450 (GRCm39) I751N probably damaging Het
Clasp2 A G 9: 113,737,755 (GRCm39) D1043G probably benign Het
Cmip A T 8: 118,181,691 (GRCm39) N578I probably damaging Het
Col2a1 T G 15: 97,874,065 (GRCm39) K1440N unknown Het
Cpne2 A T 8: 95,282,209 (GRCm39) M252L probably benign Het
Crb2 A G 2: 37,680,607 (GRCm39) T512A probably benign Het
Csmd1 A G 8: 16,048,833 (GRCm39) Y2290H probably damaging Het
Ctnnd1 A T 2: 84,442,405 (GRCm39) D642E probably damaging Het
Ctns A G 11: 73,079,296 (GRCm39) S141P probably benign Het
Cwh43 A G 5: 73,591,632 (GRCm39) Q575R probably benign Het
Cyp2b19 C A 7: 26,458,489 (GRCm39) T68K probably damaging Het
Dcaf6 A G 1: 165,160,879 (GRCm39) S849P probably damaging Het
Dnm3 T A 1: 162,305,343 (GRCm39) Q17L possibly damaging Het
Enpp3 A T 10: 24,711,990 (GRCm39) M1K probably null Het
Fam124a T A 14: 62,844,008 (GRCm39) C505* probably null Het
Fhip2a T A 19: 57,367,034 (GRCm39) D192E probably benign Het
Fsip2 A G 2: 82,805,585 (GRCm39) I635V probably benign Het
Gm5878 A T 6: 85,095,682 (GRCm39) probably null Het
Gpld1 C A 13: 25,159,743 (GRCm39) A437D probably damaging Het
Grk5 G T 19: 61,071,642 (GRCm39) V401L possibly damaging Het
Gucy2g A T 19: 55,224,047 (GRCm39) L259Q probably damaging Het
Habp2 T A 19: 56,300,236 (GRCm39) D191E probably benign Het
Helz2 T A 2: 180,879,365 (GRCm39) H751L probably benign Het
Hgsnat A G 8: 26,461,592 (GRCm39) probably null Het
Hivep1 T A 13: 42,317,716 (GRCm39) V2064E probably damaging Het
Ikbke C T 1: 131,204,216 (GRCm39) A26T probably damaging Het
Ivd C A 2: 118,692,612 (GRCm39) D37E probably damaging Het
Kif26b G A 1: 178,358,010 (GRCm39) W40* probably null Het
Klrc2 A G 6: 129,636,274 (GRCm39) S114P probably damaging Het
Lama1 A T 17: 68,068,616 (GRCm39) T772S Het
Lamc1 T A 1: 153,118,978 (GRCm39) K880N possibly damaging Het
Lmf1 G A 17: 25,874,423 (GRCm39) D12N Het
Lpin2 G T 17: 71,538,391 (GRCm39) E384* probably null Het
Lrrc23 T C 6: 124,756,541 (GRCm39) probably benign Het
Lrrc31 T C 3: 30,745,248 (GRCm39) probably null Het
Luc7l2 A G 6: 38,528,820 (GRCm39) Q13R probably damaging Het
Ly6c1 G T 15: 74,920,346 (GRCm39) H5Q probably damaging Het
Lyst A T 13: 13,810,472 (GRCm39) H714L probably damaging Het
Man2a2 C T 7: 80,016,692 (GRCm39) R374H probably damaging Het
Mchr1 A T 15: 81,121,642 (GRCm39) T131S probably benign Het
Msto1 T C 3: 88,820,236 (GRCm39) probably null Het
Myh1 C T 11: 67,111,739 (GRCm39) T1698I probably benign Het
Ncapd3 G T 9: 26,983,144 (GRCm39) C964F probably damaging Het
Nefh T C 11: 4,891,089 (GRCm39) E510G probably damaging Het
Or10g3b T C 14: 52,587,360 (GRCm39) T48A possibly damaging Het
Or13a24 A G 7: 140,154,123 (GRCm39) E19G probably benign Het
Or1b1 A T 2: 36,995,539 (GRCm39) L41* probably null Het
Or1q1 A C 2: 36,887,092 (GRCm39) K90T probably damaging Het
Or4a73 A T 2: 89,421,095 (GRCm39) Y121* probably null Het
P4ha1 T A 10: 59,205,462 (GRCm39) S497R probably benign Het
Palb2 T C 7: 121,726,565 (GRCm39) D435G probably benign Het
Papola C T 12: 105,777,304 (GRCm39) P282L probably damaging Het
Pcdhgb1 A G 18: 37,815,377 (GRCm39) R623G probably damaging Het
Pcolce T G 5: 137,605,707 (GRCm39) K229Q probably benign Het
Pkhd1l1 T C 15: 44,431,760 (GRCm39) probably null Het
Ppp6r3 T A 19: 3,540,790 (GRCm39) T443S probably benign Het
Pramel58 A T 5: 94,830,753 (GRCm39) T84S possibly damaging Het
Psg20 T A 7: 18,416,408 (GRCm39) D236V probably damaging Het
Ptgr2 T G 12: 84,355,179 (GRCm39) S304R probably damaging Het
Ptpn22 A T 3: 103,809,430 (GRCm39) D681V probably benign Het
Rab3gap1 T C 1: 127,858,612 (GRCm39) S574P probably benign Het
Slc36a1 A G 11: 55,104,754 (GRCm39) probably null Het
Slc9a5 A G 8: 106,089,904 (GRCm39) S621G possibly damaging Het
Sntg1 A G 1: 8,515,249 (GRCm39) probably null Het
Snx17 A G 5: 31,353,877 (GRCm39) N222D possibly damaging Het
Spata19 G T 9: 27,311,729 (GRCm39) S116I possibly damaging Het
Spn G A 7: 126,736,234 (GRCm39) A91V probably damaging Het
Srrm3 T C 5: 135,881,135 (GRCm39) V145A probably benign Het
St7 A T 6: 17,942,753 (GRCm39) T575S possibly damaging Het
Taf2 A T 15: 54,928,072 (GRCm39) Y110* probably null Het
Tdrd6 G T 17: 43,935,129 (GRCm39) A1973E probably benign Het
Tg T G 15: 66,636,267 (GRCm39) L2237W probably damaging Het
Ticrr C A 7: 79,346,487 (GRCm39) Y1882* probably null Het
Trim45 T A 3: 100,832,339 (GRCm39) C191S probably damaging Het
Upf3a G A 8: 13,835,889 (GRCm39) probably null Het
Vmn2r42 A T 7: 8,197,740 (GRCm39) L293* probably null Het
Vmn2r62 T A 7: 42,437,466 (GRCm39) Q339H possibly damaging Het
Wdr24 A T 17: 26,044,804 (GRCm39) R220W probably null Het
Wdr5 T A 2: 27,408,787 (GRCm39) S22T probably benign Het
Zfp37 G A 4: 62,110,253 (GRCm39) probably benign Het
Zfp735 A T 11: 73,601,933 (GRCm39) L292F possibly damaging Het
Zfp985 T A 4: 147,667,946 (GRCm39) C271* probably null Het
Zranb1 G A 7: 132,585,625 (GRCm39) R691Q probably benign Het
Other mutations in Tcf20
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- ACTTCCAGGAGACTTGCTAGG -3'
(R):5'- TCAGTACCAGTCCTGCAACTAG -3'

Sequencing Primer
(F):5'- TGAAACTTGGGCCTACTGC -3'
(R):5'- AACTAGGGACGAAGCTGCCTC -3'
Posted On 2019-10-24