Incidental Mutation 'R5288:Tcf20'
ID 424542
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 042842-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.692) question?
Stock # R5288 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 82692637-82872073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82739910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 514 (S514T)
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: S514T

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: S514T

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: S514T

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: S514T

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,293,168 (GRCm39) Y7N probably damaging Het
Adcy1 A C 11: 7,111,351 (GRCm39) I881L probably benign Het
Aftph T C 11: 20,676,994 (GRCm39) D205G probably damaging Het
Aldh7a1 T A 18: 56,667,325 (GRCm39) N316Y possibly damaging Het
Ankrd36 A G 11: 5,639,340 (GRCm39) probably benign Het
Ccdc88a T G 11: 29,448,416 (GRCm39) N1465K possibly damaging Het
Ccpg1 G A 9: 72,920,326 (GRCm39) S647N probably benign Het
Cep70 T A 9: 99,163,128 (GRCm39) L325Q probably damaging Het
Cfap46 A G 7: 139,193,423 (GRCm39) probably null Het
Cftr C T 6: 18,226,128 (GRCm39) Q359* probably null Het
Chrne A T 11: 70,505,913 (GRCm39) N457K possibly damaging Het
Cntn2 A G 1: 132,451,415 (GRCm39) I438T probably benign Het
Cntn4 T C 6: 106,158,765 (GRCm39) L10P possibly damaging Het
Copg1 G T 6: 87,867,189 (GRCm39) M87I possibly damaging Het
Cyfip1 A T 7: 55,574,883 (GRCm39) M1045L possibly damaging Het
Cyp2c29 C T 19: 39,318,816 (GRCm39) P432L probably damaging Het
Dcaf11 T A 14: 55,800,833 (GRCm39) D96E probably damaging Het
Dmxl2 A G 9: 54,286,041 (GRCm39) S2715P probably benign Het
Dnhd1 G A 7: 105,363,644 (GRCm39) E4069K possibly damaging Het
Dpy19l4 T A 4: 11,289,721 (GRCm39) N330I probably damaging Het
Dpy19l4 G T 4: 11,304,014 (GRCm39) A132D probably damaging Het
Duox2 A G 2: 122,125,617 (GRCm39) V330A probably benign Het
Dusp11 T C 6: 85,924,587 (GRCm39) *322W probably null Het
Dusp8 T A 7: 141,643,730 (GRCm39) Q61L possibly damaging Het
Eml3 G A 19: 8,916,638 (GRCm39) G720S probably damaging Het
F11 A G 8: 45,699,833 (GRCm39) S418P probably damaging Het
Fam91a1 G A 15: 58,320,243 (GRCm39) S645N probably benign Het
Fat2 G A 11: 55,158,482 (GRCm39) T3412I probably benign 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
Gm10134 T A 2: 28,396,372 (GRCm39) probably benign Het
Gm11787 T C 4: 3,511,795 (GRCm39) noncoding transcript Het
Gpatch8 A T 11: 102,399,053 (GRCm39) probably null Het
Gucy2g G A 19: 55,203,548 (GRCm39) A750V probably damaging Het
Hephl1 T C 9: 14,988,150 (GRCm39) T653A possibly damaging Het
Herc3 T A 6: 58,851,263 (GRCm39) M504K probably damaging Het
Hmcn2 A G 2: 31,350,333 (GRCm39) T5077A probably benign Het
Ifitm3 T C 7: 140,590,554 (GRCm39) N2S probably benign Het
Ighe T C 12: 113,235,092 (GRCm39) H356R probably benign Het
Ighv10-3 T A 12: 114,487,125 (GRCm39) M99L probably benign Het
Izumo4 C A 10: 80,538,639 (GRCm39) C30* probably null Het
Jag1 A T 2: 136,937,464 (GRCm39) H303Q possibly damaging Het
Kif24 T C 4: 41,395,373 (GRCm39) E500G probably benign Het
Kng1 A T 16: 22,897,842 (GRCm39) D414V probably damaging Het
Loxhd1 A C 18: 77,451,308 (GRCm39) D410A probably damaging Het
Ltn1 T C 16: 87,212,899 (GRCm39) K554R possibly damaging Het
Ly75 A G 2: 60,133,985 (GRCm39) C1547R probably damaging Het
Ms4a6d A T 19: 11,564,500 (GRCm39) S124T possibly damaging Het
Mtcl3 A G 10: 29,072,766 (GRCm39) D686G probably benign Het
Mtfr2 A G 10: 20,233,448 (GRCm39) D339G probably damaging Het
Myh10 T A 11: 68,692,434 (GRCm39) L1369Q probably damaging Het
Myh11 A T 16: 14,025,872 (GRCm39) V1366D possibly damaging Het
Nadsyn1 A G 7: 143,357,023 (GRCm39) V491A possibly damaging Het
Nav3 T C 10: 109,688,966 (GRCm39) N437S probably benign Het
Ncf1 A G 5: 134,250,659 (GRCm39) L373P probably damaging Het
Neb A T 2: 52,079,873 (GRCm39) I85N probably damaging Het
Nktr A G 9: 121,577,659 (GRCm39) K576E probably benign Het
Nmur2 T A 11: 55,931,040 (GRCm39) I224F probably damaging Het
Oas3 A G 5: 120,895,055 (GRCm39) F978S probably damaging Het
Or10ag53 C T 2: 87,082,827 (GRCm39) P182L probably benign Het
Or10ak9 T C 4: 118,726,772 (GRCm39) S264P probably damaging Het
Or2r3 T A 6: 42,448,186 (GRCm39) I309F probably benign Het
Or2t48 A T 11: 58,420,308 (GRCm39) M168K probably damaging Het
Or5p60 T C 7: 107,724,375 (GRCm39) T32A probably benign Het
Pcyox1 A T 6: 86,369,336 (GRCm39) probably null Het
Pdcd7 G A 9: 65,265,974 (GRCm39) W477* probably null Het
Pitpnm1 T C 19: 4,153,435 (GRCm39) F197S probably damaging Het
Plce1 C A 19: 38,748,535 (GRCm39) N1755K 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
Pomt1 C G 2: 32,134,311 (GRCm39) Y277* probably null Het
Pou4f2 A G 8: 79,162,958 (GRCm39) Y26H unknown Het
Pphln1-ps1 T G 16: 13,495,622 (GRCm39) N240K probably benign Het
Ppm1e A T 11: 87,249,377 (GRCm39) L118Q possibly damaging Het
Pramel34 C T 5: 93,785,607 (GRCm39) M224I possibly damaging Het
Prdx2 T A 8: 85,698,302 (GRCm39) Y164* probably null Het
Prkra T G 2: 76,469,622 (GRCm39) T146P probably damaging Het
Prpf8 A G 11: 75,386,625 (GRCm39) D1038G probably damaging Het
Rab4a A T 8: 124,554,113 (GRCm39) I16L probably benign 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
Rimbp2 G A 5: 128,865,656 (GRCm39) T557M probably benign Het
Rmi1 G A 13: 58,557,280 (GRCm39) G510R probably damaging Het
Sdad1 A G 5: 92,434,684 (GRCm39) *687Q probably null Het
Sema6d T C 2: 124,506,166 (GRCm39) L720P probably damaging Het
Setx T G 2: 29,024,045 (GRCm39) probably null Het
Sgsm3 T C 15: 80,892,200 (GRCm39) V256A probably benign Het
Slc28a2b C A 2: 122,353,259 (GRCm39) L480I probably benign Het
Sppl2c T A 11: 104,078,127 (GRCm39) I309K possibly damaging Het
Stard9 A G 2: 120,531,111 (GRCm39) E2456G probably damaging Het
Strn3 C G 12: 51,694,803 (GRCm39) R320P probably damaging Het
Supv3l1 A T 10: 62,266,375 (GRCm39) N600K possibly damaging Het
Syne2 T A 12: 76,146,112 (GRCm39) S6377T possibly damaging Het
Tas2r123 A T 6: 132,824,190 (GRCm39) H29L probably benign Het
Tbl3 C T 17: 24,924,944 (GRCm39) V52M possibly damaging Het
Tbp A G 17: 15,727,609 (GRCm39) I145V probably benign Het
Tgm4 A G 9: 122,885,559 (GRCm39) Y367C probably damaging Het
Tle1 C T 4: 72,060,081 (GRCm39) V258M probably damaging Het
Tln1 C T 4: 43,540,661 (GRCm39) V1447I probably benign Het
Tnfrsf11b C T 15: 54,141,622 (GRCm39) A8T probably benign Het
Trim80 A T 11: 115,338,843 (GRCm39) T558S probably benign Het
Trmt6 C A 2: 132,650,703 (GRCm39) A302S probably benign Het
Tsen15 C T 1: 152,259,131 (GRCm39) V76I probably damaging Het
Ttc17 A T 2: 94,133,985 (GRCm39) W1067R probably damaging Het
Ucn3 A T 13: 3,991,474 (GRCm39) F59L probably benign Het
Ulk3 T A 9: 57,498,023 (GRCm39) I108N possibly damaging Het
Vmn2r94 A C 17: 18,464,728 (GRCm39) Y521D probably damaging Het
Vps45 T C 3: 95,965,086 (GRCm39) M1V probably null Het
Vta1 C A 10: 14,581,143 (GRCm39) L21F probably damaging Het
Zdhhc21 C T 4: 82,765,929 (GRCm39) G2D probably damaging Het
Zfp169 A T 13: 48,643,751 (GRCm39) C459S possibly damaging Het
Zfp90 C T 8: 107,152,000 (GRCm39) T571M probably damaging Het
Zswim8 A T 14: 20,768,939 (GRCm39) N1119I 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
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'- AAGCGCCACACTTATAGGTG -3'
(R):5'- ACTCCATCAATGATGCCCAGTC -3'

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