Incidental Mutation 'R5384:Tcf20'
ID 424991
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.692) question?
Stock # R5384 (G1)
Quality Score 170
Status Not validated
Chromosome 15
Chromosomal Location 82692637-82872073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82740400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 350 (Q350H)
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: Q350H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: Q350H

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: Q350H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: Q350H

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 126 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,606,496 (GRCm39) V246A probably benign Het
Abcc10 T C 17: 46,615,361 (GRCm39) S1343G possibly damaging Het
Abcd3 C A 3: 121,555,059 (GRCm39) probably null Het
Actl6a T A 3: 32,774,642 (GRCm39) M335K probably damaging Het
Adamts9 A C 6: 92,774,999 (GRCm39) C1090W probably damaging Het
Ajuba T C 14: 54,807,855 (GRCm39) Y459C probably damaging Het
Aldh7a1 T A 18: 56,667,325 (GRCm39) N316Y possibly damaging Het
Ankhd1 A G 18: 36,724,548 (GRCm39) E402G probably damaging Het
Ankrd36 A G 11: 5,639,340 (GRCm39) probably benign Het
Apeh A T 9: 107,963,662 (GRCm39) L551H probably damaging Het
Avpr1a T A 10: 122,285,274 (GRCm39) F189I probably damaging Het
BC034090 T A 1: 155,117,773 (GRCm39) H115L possibly damaging Het
C4b A T 17: 34,956,635 (GRCm39) D654E possibly damaging Het
Carns1 T A 19: 4,221,900 (GRCm39) probably null Het
Ccdc146 T A 5: 21,513,711 (GRCm39) E469V probably benign Het
Cdc27 A G 11: 104,397,966 (GRCm39) I804T probably benign Het
Cdh23 G A 10: 60,173,541 (GRCm39) T1651I probably damaging Het
Cenpo G A 12: 4,266,646 (GRCm39) P154L probably damaging Het
Cenpu G A 8: 47,015,534 (GRCm39) G150R probably benign Het
Chrna10 C A 7: 101,763,560 (GRCm39) L78F probably damaging Het
Chrne A T 11: 70,505,913 (GRCm39) N457K possibly damaging Het
Cidea A T 18: 67,493,236 (GRCm39) D85V probably damaging Het
Cldn18 T C 9: 99,591,911 (GRCm39) S31G possibly damaging Het
Clpb T A 7: 101,428,548 (GRCm39) I436N probably damaging Het
Col11a2 T C 17: 34,278,148 (GRCm39) probably null Het
Cul7 T C 17: 46,965,403 (GRCm39) V527A probably benign Het
Dchs1 A C 7: 105,407,236 (GRCm39) V2119G probably damaging Het
Dchs1 T A 7: 105,421,262 (GRCm39) D386V probably damaging Het
Dcstamp A C 15: 39,622,715 (GRCm39) Q345H probably damaging Het
Dlgap3 A G 4: 127,130,123 (GRCm39) I955V probably damaging Het
Dvl1 A G 4: 155,938,143 (GRCm39) D97G probably damaging Het
Dync2h1 T C 9: 7,016,791 (GRCm39) D3573G probably damaging Het
Efr3b G T 12: 4,033,419 (GRCm39) F129L probably benign Het
Etaa1 G A 11: 17,897,539 (GRCm39) L193F probably damaging Het
Fam13c G A 10: 70,388,899 (GRCm39) S474N probably benign Het
Fam171a2 C A 11: 102,328,693 (GRCm39) V689L possibly damaging Het
Fastkd3 T C 13: 68,732,704 (GRCm39) F342L probably benign Het
Fat4 T C 3: 39,050,095 (GRCm39) S3986P possibly damaging Het
Fbxo38 A G 18: 62,674,042 (GRCm39) M13T probably benign Het
Fbxo48 G T 11: 16,904,329 (GRCm39) L160F possibly damaging Het
Fgr G A 4: 132,713,664 (GRCm39) probably null Het
Gbx2 T C 1: 89,856,635 (GRCm39) T252A probably damaging Het
Gm20671 A G 5: 32,977,286 (GRCm39) S1823P probably damaging Het
Gpatch8 A T 11: 102,399,053 (GRCm39) probably null Het
Gsdma A T 11: 98,557,275 (GRCm39) probably null Het
Gucy2g G A 19: 55,203,548 (GRCm39) A750V probably damaging Het
Hdac9 A G 12: 34,479,557 (GRCm39) Y223H probably damaging Het
Igsf5 C A 16: 96,192,226 (GRCm39) T275N probably benign Het
Il23r G A 6: 67,463,275 (GRCm39) H73Y probably benign Het
Ipo4 G T 14: 55,863,653 (GRCm39) R1026S probably benign Het
Jade1 T A 3: 41,546,137 (GRCm39) I54N probably damaging Het
Khdrbs1 G T 4: 129,635,729 (GRCm39) D75E possibly damaging Het
Lrwd1 A T 5: 136,152,728 (GRCm39) D511E possibly damaging Het
Ly75 A T 2: 60,164,831 (GRCm39) C782* probably null Het
Mmp3 C T 9: 7,451,759 (GRCm39) R366* probably null Het
Mrgpra6 A G 7: 46,838,629 (GRCm39) C190R probably damaging Het
Mtcl3 A G 10: 29,072,766 (GRCm39) D686G probably benign Het
Myh10 T A 11: 68,692,434 (GRCm39) L1369Q probably damaging Het
Myof C T 19: 37,941,435 (GRCm39) A792T probably damaging Het
Ncf1 A G 5: 134,250,659 (GRCm39) L373P probably damaging Het
Ncoa7 C A 10: 30,598,813 (GRCm39) A37S probably benign Het
Nfkb1 A G 3: 135,318,303 (GRCm39) V310A possibly damaging Het
Nmur2 T A 11: 55,931,040 (GRCm39) I224F probably damaging Het
Nr1d2 A T 14: 18,211,922 (GRCm38) S394T probably benign Het
Nudt12 A G 17: 59,310,434 (GRCm39) W390R probably damaging Het
Or11g24 T A 14: 50,662,846 (GRCm39) V290E possibly damaging Het
Or2m13 A G 16: 19,226,547 (GRCm39) L73P probably damaging Het
Or4a79 T A 2: 89,551,649 (GRCm39) I269F possibly damaging Het
Or4e1 T A 14: 52,700,714 (GRCm39) T251S probably benign Het
Or52a20 T C 7: 103,366,562 (GRCm39) F254L probably benign Het
Pate2 A G 9: 35,581,837 (GRCm39) M44V probably damaging Het
Pikfyve T C 1: 65,283,568 (GRCm39) L735S probably damaging Het
Plce1 C A 19: 38,748,535 (GRCm39) N1755K probably damaging Het
Pld1 C A 3: 28,079,469 (GRCm39) R90S probably damaging Het
Pnpla7 C A 2: 24,931,031 (GRCm39) P882Q probably damaging Het
Pold2 A G 11: 5,826,760 (GRCm39) L58P probably damaging Het
Ppm1d A G 11: 85,202,609 (GRCm39) E104G probably damaging Het
Ppm1e A T 11: 87,249,377 (GRCm39) L118Q possibly damaging Het
Ppp1r42 A G 1: 10,069,660 (GRCm39) L134P probably damaging Het
Prpf8 A G 11: 75,386,625 (GRCm39) D1038G probably damaging Het
Prss36 C A 7: 127,535,871 (GRCm39) R288L probably damaging Het
Prss51 T A 14: 64,334,543 (GRCm39) V108E probably damaging Het
Psma3 G T 12: 71,021,539 (GRCm39) G7W probably damaging Het
Psmc3ip A T 11: 100,983,430 (GRCm39) probably null Het
Qser1 T C 2: 104,616,987 (GRCm39) E1275G probably damaging Het
Rai2 A G X: 160,561,636 (GRCm39) N363S probably benign Het
Ranbp17 A T 11: 33,169,241 (GRCm39) V991D possibly damaging Het
Rcc2 A T 4: 140,447,877 (GRCm39) K468* probably null Het
S1pr2 T C 9: 20,878,890 (GRCm39) T313A probably benign Het
Sec1 C A 7: 45,328,264 (GRCm39) R261L probably benign Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Homo
Sgip1 G A 4: 102,791,763 (GRCm39) V362I possibly damaging Het
Shroom4 T A X: 6,497,523 (GRCm39) C894* probably null Het
Slc12a9 A T 5: 137,329,276 (GRCm39) L126Q probably damaging Het
Slx4 A G 16: 3,808,669 (GRCm39) S424P probably damaging Het
Smg5 T C 3: 88,258,600 (GRCm39) S524P probably damaging Het
Sncaip A G 18: 53,018,113 (GRCm39) D418G probably damaging Het
Spata31d1b C A 13: 59,866,032 (GRCm39) T1060K possibly damaging Het
Spink6 A G 18: 44,215,347 (GRCm39) T66A probably damaging Het
Sppl2c T A 11: 104,078,127 (GRCm39) I309K possibly damaging Het
Stk39 T A 2: 68,240,383 (GRCm39) D116V probably damaging Het
Supv3l1 A T 10: 62,266,375 (GRCm39) N600K possibly damaging Het
Svep1 T C 4: 58,104,545 (GRCm39) K1226R possibly damaging Het
Syne1 C T 10: 4,991,494 (GRCm39) V557I probably benign Het
Tas2r117 G T 6: 132,780,117 (GRCm39) S85I probably benign Het
Tep1 A T 14: 51,105,774 (GRCm39) L82Q probably damaging Het
Tfb2m A C 1: 179,373,437 (GRCm39) probably null Het
Tm9sf1 C T 14: 55,880,301 (GRCm39) G32D possibly damaging Het
Tpd52 A T 3: 8,996,255 (GRCm39) probably null Het
Trappc8 A T 18: 20,966,119 (GRCm39) probably null Het
Trbv30 A G 6: 41,258,854 (GRCm39) T88A probably benign Het
Trim40 T A 17: 37,199,757 (GRCm39) N107I probably damaging Het
Trim80 A T 11: 115,338,843 (GRCm39) T558S probably benign Het
Ttn A G 2: 76,708,692 (GRCm39) probably benign Het
Vav3 A G 3: 109,434,791 (GRCm39) M441V possibly damaging Het
Vmn1r42 T A 6: 89,822,366 (GRCm39) I68F probably damaging Het
Vmn2r118 C T 17: 55,918,565 (GRCm39) G109D probably benign Het
Vmn2r5 T A 3: 64,416,931 (GRCm39) M76L probably benign Het
Vwa7 G T 17: 35,243,902 (GRCm39) probably null Het
Xndc1 T C 7: 101,731,395 (GRCm39) V378A probably benign Het
Zc3h12d A T 10: 7,729,014 (GRCm39) D126V probably damaging Het
Zc3h13 A G 14: 75,581,059 (GRCm39) N1682S probably benign Het
Zc3h15 T C 2: 83,490,574 (GRCm39) I236T possibly damaging Het
Zfp13 A T 17: 23,800,156 (GRCm39) I34N probably damaging Het
Zfp169 A T 13: 48,643,751 (GRCm39) C459S possibly damaging Het
Zfyve28 A G 5: 34,374,311 (GRCm39) C568R probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- ACTGGAGATTCTCACCACTCTG -3'
(R):5'- GCACAGGCTTATGGAACACAATC -3'

Sequencing Primer
(F):5'- GGAGATTCTCACCACTCTGCATGAG -3'
(R):5'- AGGCAAAGATTCCACCAG -3'
Posted On 2016-08-04