Incidental Mutation 'R6448:Tcf20'
ID 519265
Institutional Source Beutler Lab
Gene Symbol Tcf20
Ensembl Gene ENSMUSG00000041852
Gene Name transcription factor 20
Synonyms stromelysin 1 PDGF responsive element binding protein, 2810438H08Rik, SPBP
MMRRC Submission 044584-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.618) question?
Stock # R6448 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 82808436-82987872 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82852660 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1530 (I1530T)
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: I1530T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: I1530T

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: ENSMUST00000109510
AA Change: I1530T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: I1530T

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 0.0613 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 97% (32/33)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 A T 12: 52,517,663 (GRCm38) K472N probably benign Het
C2 T G 17: 34,863,359 (GRCm38) D298A possibly damaging Het
Col16a1 T G 4: 130,058,988 (GRCm38) L409R probably damaging Het
Dlgap1 A G 17: 70,593,330 (GRCm38) E380G possibly damaging Het
Fam111a C A 19: 12,588,337 (GRCm38) H483Q probably benign Het
Fancc C T 13: 63,340,428 (GRCm38) R246Q probably damaging Het
Glb1 A T 9: 114,434,431 (GRCm38) Q256L probably damaging Het
Gm9195 A T 14: 72,434,011 (GRCm38) D2611E possibly damaging Het
Gsto1 C T 19: 47,857,981 (GRCm38) T89I probably benign Het
Hmcn2 A G 2: 31,420,820 (GRCm38) S3359G probably benign Het
Hook3 T A 8: 26,093,664 (GRCm38) N87I probably benign Het
Htt T A 5: 34,875,992 (GRCm38) M1868K probably benign Het
Ighv1-19 T C 12: 114,708,676 (GRCm38) E107G probably damaging Het
Il20rb A T 9: 100,474,933 (GRCm38) M48K probably benign Het
Inpp5j T C 11: 3,495,387 (GRCm38) H822R probably damaging Het
Kif14 G T 1: 136,503,347 (GRCm38) V1161F probably damaging Het
Klhdc2 T A 12: 69,303,920 (GRCm38) D169E probably benign Het
Ly75 A G 2: 60,299,045 (GRCm38) probably null Het
Myh15 T G 16: 49,171,932 (GRCm38) S1590A probably damaging Het
Ncbp2 CGTCTGGATG CG 16: 31,956,343 (GRCm38) probably null Het
Neb T C 2: 52,148,814 (GRCm38) D6748G probably damaging Het
Nfrkb T C 9: 31,394,789 (GRCm38) Y142H probably damaging Het
Olfr1051 T A 2: 86,276,347 (GRCm38) I47F probably benign Het
Olfr1355 G A 10: 78,879,682 (GRCm38) C170Y possibly damaging Het
Olfr784 A T 10: 129,388,152 (GRCm38) D173V probably damaging Het
Prm2 G A 16: 10,791,961 (GRCm38) probably benign Het
Ralgapa1 T C 12: 55,719,661 (GRCm38) T1283A probably benign Het
Rest T C 5: 77,281,471 (GRCm38) L579P possibly damaging Het
Slc6a1 C T 6: 114,302,086 (GRCm38) T46I possibly damaging Het
Tox T G 4: 6,822,975 (GRCm38) D114A probably benign Het
Ulk4 C T 9: 121,103,630 (GRCm38) G1048D probably 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
IGL01684:Tcf20 APN 15 82,857,160 (GRCm38) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGAACCTTCTGGCATCTGAGGG -3'
(R):5'- TTCCAGGGCCTTCTGAAGAG -3'

Sequencing Primer
(F):5'- GCATCTGAGGGGGCTGAG -3'
(R):5'- GCCTTCTGAAGAGTGGCG -3'
Posted On 2018-05-24