Incidental Mutation 'R5219:Tcf20'
ID 402243
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 042792-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.692) question?
Stock # R5219 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 82692637-82872073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 82740582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 290 (G290C)
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: G290C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: G290C

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: G290C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: G290C

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 0.6554 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (68/70)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700063H04Rik A G 6: 122,369,299 (GRCm39) noncoding transcript Het
4933428M09Rik G T X: 138,080,282 (GRCm39) G16* probably null Het
A2m A G 6: 121,653,909 (GRCm39) H1414R possibly damaging Het
A530064D06Rik G T 17: 48,470,518 (GRCm39) D154E possibly damaging Het
Adam34 C T 8: 44,104,461 (GRCm39) D395N probably benign Het
Agl A G 3: 116,572,370 (GRCm39) V195A possibly damaging Het
Aip T C 19: 4,165,180 (GRCm39) I230V probably benign Het
Akap10 A C 11: 61,813,617 (GRCm39) S43A probably benign Het
Ap3d1 T C 10: 80,545,651 (GRCm39) E1026G probably benign Het
Arid5b T A 10: 68,113,940 (GRCm39) K32N probably benign Het
Atp6v0a2 C A 5: 124,790,249 (GRCm39) N477K probably damaging Het
Atr A C 9: 95,763,291 (GRCm39) I1062L probably damaging Het
Ces2h T C 8: 105,743,278 (GRCm39) V171A probably damaging Het
Cnot2 A G 10: 116,342,215 (GRCm39) probably null Het
Cpne3 A T 4: 19,526,366 (GRCm39) L391H probably damaging Het
Ctdp1 A G 18: 80,490,675 (GRCm39) L715P probably damaging Het
Dcxr T C 11: 120,616,314 (GRCm39) probably benign Het
Dhtkd1 C T 2: 5,919,627 (GRCm39) A585T probably benign Het
Elapor2 G T 5: 9,511,486 (GRCm39) W949C probably damaging Het
Fcgbp G A 7: 27,803,510 (GRCm39) A1705T probably damaging Het
Galr1 A T 18: 82,412,110 (GRCm39) V252D probably damaging Het
Gm11677 A G 11: 111,616,225 (GRCm39) noncoding transcript Het
Gp6 A G 7: 4,371,998 (GRCm39) V252A possibly damaging Het
Inpp4b T C 8: 82,610,785 (GRCm39) V176A probably benign Het
Irx2 G C 13: 72,779,420 (GRCm39) A235P probably damaging Het
Klk1b11 G A 7: 43,649,120 (GRCm39) C219Y probably damaging Het
Lamc1 C A 1: 153,103,442 (GRCm39) V1375L probably damaging Het
Lars1 A T 18: 42,367,785 (GRCm39) V431E probably benign Het
Lmntd2 T C 7: 140,791,387 (GRCm39) probably null Het
Ltbp4 A T 7: 27,026,746 (GRCm39) W500R probably benign Het
Ltbp4 AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC AATTCAGGCCTAGGCTGGGATTCAGGC 7: 27,026,736 (GRCm39) probably benign Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Nadk A G 4: 155,668,711 (GRCm39) I127M probably benign Het
Nxph1 T A 6: 9,247,765 (GRCm39) Y245* probably null Het
Or4a73 C T 2: 89,421,046 (GRCm39) V138I probably benign Het
Or7s1a-ps1 T C 9: 18,843,990 (GRCm39) probably benign Het
Or8g34 G T 9: 39,373,563 (GRCm39) V276L probably benign Het
Or9k7 T A 10: 130,046,793 (GRCm39) T69S possibly damaging Het
Orc1 T C 4: 108,447,966 (GRCm39) F71S probably damaging Het
Pccb A T 9: 100,867,262 (GRCm39) Y404* probably null Het
Pde2a A C 7: 101,153,811 (GRCm39) I460L probably damaging Het
Ppp3cb G T 14: 20,578,263 (GRCm39) C162* probably null Het
Prickle2 T C 6: 92,353,511 (GRCm39) S652G probably benign Het
Prss38 A G 11: 59,266,309 (GRCm39) probably benign Het
Rcor3 T A 1: 191,821,813 (GRCm39) probably benign Het
Rgp1 C T 4: 43,579,440 (GRCm39) A16V probably damaging Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Scnn1g T A 7: 121,365,489 (GRCm39) Y514N probably damaging Het
Sephs1 A G 2: 4,896,501 (GRCm39) D134G probably benign Het
Slc38a3 A G 9: 107,529,111 (GRCm39) probably benign Het
Slc6a1 A T 6: 114,287,182 (GRCm39) M388L probably benign Het
Ssbp3 A T 4: 106,904,655 (GRCm39) N350I probably damaging Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Sult1e1 A T 5: 87,726,445 (GRCm39) I223N probably damaging Het
Tekt2 G T 4: 126,216,057 (GRCm39) T412K possibly damaging Het
Trabd2b A G 4: 114,460,007 (GRCm39) T382A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubr4 C A 4: 139,204,543 (GRCm39) Y4818* probably null Het
Vmn1r204 A T 13: 22,741,069 (GRCm39) R233S probably damaging Het
Vmn1r86 A G 7: 12,836,382 (GRCm39) Y165H probably damaging Het
Yaf2 A C 15: 93,183,355 (GRCm39) C152G probably benign Het
Zfp804b A T 5: 6,820,703 (GRCm39) F751I 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
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
Predicted Primers PCR Primer
(F):5'- GGCAGCATTTGTGTACTGCATC -3'
(R):5'- GCCATCTTCTGCTGGTTATCAG -3'

Sequencing Primer
(F):5'- CAGCATTTGTGTACTGCATCACATG -3'
(R):5'- CAGTTAAGAGTAGGTCAGTTTGGAC -3'
Posted On 2016-07-22