Incidental Mutation 'R9729:Tcf20'
ID 731258
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.692) question?
Stock # R9729 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 82692637-82872073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82736037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 1805 (R1805G)
Ref Sequence ENSEMBL: ENSMUSP00000105136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048966] [ENSMUST00000109510] [ENSMUST00000229547]
AlphaFold Q9EPQ8
Predicted Effect probably damaging
Transcript: ENSMUST00000048966
AA Change: R1805G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: R1805G

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: R1805G

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: R1805G

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: ENSMUST00000229547
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A T 13: 54,700,519 (GRCm39) M273K probably benign Het
Aar2 A G 2: 156,393,361 (GRCm39) D250G probably benign Het
Acly T A 11: 100,407,711 (GRCm39) Y213F probably benign Het
Adgrg5 G A 8: 95,668,133 (GRCm39) M399I Het
Adhfe1 T C 1: 9,623,634 (GRCm39) L95P probably damaging Het
Ano7 G A 1: 93,322,180 (GRCm39) C396Y probably damaging Het
Apob T A 12: 8,066,125 (GRCm39) Y4365N probably damaging Het
Arfgap3 C T 15: 83,192,366 (GRCm39) R411H probably damaging Het
Bbs7 T C 3: 36,661,818 (GRCm39) Y127C probably damaging Het
Cadps2 T C 6: 23,382,982 (GRCm39) T793A probably benign Het
Casp8ap2 T A 4: 32,643,807 (GRCm39) V960E possibly damaging Het
Cd200l1 G T 16: 45,264,237 (GRCm39) T107N possibly damaging Het
Cdkl3 A G 11: 51,895,770 (GRCm39) T6A probably benign Het
Cdkn2aip T C 8: 48,166,654 (GRCm39) D51G probably benign Het
Cdpf1 G T 15: 85,692,527 (GRCm39) S52* probably null Het
Celf5 T A 10: 81,303,925 (GRCm39) D177V probably damaging Het
Cep164 A G 9: 45,682,897 (GRCm39) V931A probably damaging Het
Cog6 T C 3: 52,900,907 (GRCm39) D457G probably damaging Het
Col4a2 G T 8: 11,496,157 (GRCm39) V1593L probably benign Het
Dlg5 C G 14: 24,204,681 (GRCm39) M1287I probably benign Het
Dmrt1 T C 19: 25,523,362 (GRCm39) S238P probably benign Het
Dpysl2 A G 14: 67,099,927 (GRCm39) M103T probably benign Het
Emsy C A 7: 98,262,256 (GRCm39) A608S probably benign Het
Entr1 A G 2: 26,278,645 (GRCm39) F21S unknown Het
Entrep2 C T 7: 64,806,056 (GRCm39) G6S probably benign Het
Exoc5 A T 14: 49,253,086 (GRCm39) C576S probably damaging Het
F830016B08Rik G A 18: 60,433,558 (GRCm39) V214M possibly damaging Het
Fignl1 A G 11: 11,752,219 (GRCm39) S279P probably benign Het
Gimap1 A G 6: 48,719,386 (GRCm39) R71G unknown Het
Gm26727 A T 2: 67,263,263 (GRCm39) M88K probably damaging Het
Gm45861 T A 8: 28,045,436 (GRCm39) W1066R unknown Het
Gpr15 A G 16: 58,538,249 (GRCm39) L280S possibly damaging Het
Grin1 C T 2: 25,187,422 (GRCm39) W629* probably null Het
Grk5 C T 19: 61,078,467 (GRCm39) P508L possibly damaging Het
Hgf A T 5: 16,766,029 (GRCm39) D55V probably damaging Het
Hipk1 T A 3: 103,668,890 (GRCm39) D502V probably damaging Het
Kmt2c T C 5: 25,489,758 (GRCm39) K4394E probably damaging Het
Llgl2 A G 11: 115,740,467 (GRCm39) T388A probably damaging Het
Lsm14a G T 7: 34,088,898 (GRCm39) S2R probably damaging Het
Madd A T 2: 91,000,544 (GRCm39) M507K possibly damaging Het
Map2k3 G T 11: 60,837,472 (GRCm39) V191L Het
Mapk8ip1 A G 2: 92,217,060 (GRCm39) S421P probably damaging Het
Marchf7 C T 2: 60,064,785 (GRCm39) R354* probably null Het
Myc T G 15: 61,859,935 (GRCm39) C204G probably damaging Het
Nampt A G 12: 32,900,528 (GRCm39) H491R possibly damaging Het
Noct C T 3: 51,157,267 (GRCm39) Q202* probably null Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Or10b1 T A 10: 78,355,949 (GRCm39) F169Y probably damaging Het
Osbpl10 G A 9: 115,052,804 (GRCm39) V451M probably damaging Het
Osr2 T A 15: 35,303,061 (GRCm39) F312Y probably benign Het
Parp16 A T 9: 65,137,097 (GRCm39) I108F possibly damaging Het
Parp4 A G 14: 56,885,888 (GRCm39) T1656A unknown Het
Pnpla8 A G 12: 44,330,657 (GRCm39) I374V probably benign Het
Prss23 T C 7: 89,159,931 (GRCm39) N46S probably benign Het
Ptger2 T C 14: 45,226,476 (GRCm39) W19R possibly damaging Het
Rbl2 T C 8: 91,805,527 (GRCm39) S195P probably damaging Het
Rnf169 C T 7: 99,575,477 (GRCm39) V373I probably damaging Het
Sclt1 C A 3: 41,629,837 (GRCm39) E325* probably null Het
Sergef C T 7: 46,284,913 (GRCm39) S43N probably benign Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,777 (GRCm39) probably benign Het
Slc3a2 T C 19: 8,685,370 (GRCm39) D472G probably damaging Het
Slc43a3 T C 2: 84,780,800 (GRCm39) F342L probably benign Het
Slc44a4 A T 17: 35,140,670 (GRCm39) I288F probably benign Het
Snupn T A 9: 56,877,915 (GRCm39) N151K possibly damaging Het
Srbd1 A T 17: 86,437,550 (GRCm39) D264E probably benign Het
Srpra A T 9: 35,125,569 (GRCm39) T378S probably benign Het
Stat4 A G 1: 52,141,762 (GRCm39) D613G possibly damaging Het
Sycp2l C T 13: 41,326,132 (GRCm39) P246L Het
Tob1 T A 11: 94,104,880 (GRCm39) F139I probably damaging Het
Traj9 A G 14: 54,446,871 (GRCm39) T8A unknown Het
Trank1 G T 9: 111,220,537 (GRCm39) D2425Y probably damaging Het
Ttn G A 2: 76,738,071 (GRCm39) S4202L unknown Het
Ttn A T 2: 76,577,267 (GRCm39) M24542K probably damaging Het
Vcam1 T C 3: 115,911,105 (GRCm39) Y431C probably damaging Het
Vcpkmt G A 12: 69,627,936 (GRCm39) R175C probably damaging Het
Vmn2r51 A T 7: 9,839,479 (GRCm39) D36E probably benign Het
Vmn2r61 A G 7: 41,949,917 (GRCm39) E779G probably damaging Het
Zfp831 T C 2: 174,487,938 (GRCm39) L871P possibly 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
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
RF019:Tcf20 UTSW 15 82,735,794 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTGTCAAGAGGTAGTTCAGG -3'
(R):5'- GTTACCGTAACATGGGTGACC -3'

Sequencing Primer
(F):5'- CAGGGATTTGTAACTCCAGCTCAG -3'
(R):5'- GGTGACCTCTTTGGACCCTTTTATC -3'
Posted On 2022-10-06