Incidental Mutation 'IGL00087:Tcf20'
ID899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcf20
Ensembl Gene ENSMUSG00000041852
Gene Nametranscription factor 20
Synonymsstromelysin 1 PDGF responsive element binding protein, 2810438H08Rik, SPBP
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.521) question?
Stock #IGL00087
Quality Score
Status
Chromosome15
Chromosomal Location82808436-82987872 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 82854895 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 785 (V785A)
Ref Sequence ENSEMBL: ENSMUSP00000105136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048966] [ENSMUST00000109510] [ENSMUST00000229439] [ENSMUST00000229547] [ENSMUST00000230403]
Predicted Effect probably damaging
Transcript: ENSMUST00000048966
AA Change: V785A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: V785A

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: V785A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: V785A

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik C A 3: 121,679,633 probably benign Het
4930572O03Rik C A 5: 15,656,886 probably benign Het
Actr2 C A 11: 20,094,370 V79L probably benign Het
Ankrd36 A C 11: 5,620,131 Y533S probably benign Het
Btnl1 A T 17: 34,381,117 D198V probably damaging Het
Carmil2 T A 8: 105,691,406 I684N probably benign Het
Ccdc129 T A 6: 55,968,037 L581Q possibly damaging Het
Cdk17 T A 10: 93,226,771 V257D probably damaging Het
Ctsj T G 13: 61,001,418 S271R possibly damaging Het
Cul9 T A 17: 46,525,709 Q1130L probably damaging Het
Daam1 G T 12: 71,942,219 S131I unknown Het
Dab1 G A 4: 104,678,810 V139M probably damaging Het
Dab1 A T 4: 104,678,753 I120F possibly damaging Het
Dnah2 A G 11: 69,492,672 V1142A possibly damaging Het
Dsg1b C T 18: 20,396,476 T326I probably damaging Het
Eif3k A C 7: 28,974,676 probably benign Het
Fam76b T C 9: 13,836,884 V3A possibly damaging Het
Fitm2 A G 2: 163,469,792 V167A probably benign Het
Gfap T A 11: 102,888,718 I418F possibly damaging Het
Gm8857 C T 5: 10,947,838 probably benign Het
Grm5 T C 7: 88,130,781 V1143A probably benign Het
Itpr2 A G 6: 146,397,012 I317T probably damaging Het
Kcnn2 A C 18: 45,592,236 R266S probably damaging Het
Kntc1 T A 5: 123,790,159 S1240T probably benign Het
Lmnb2 T C 10: 80,904,037 D490G possibly damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Olfr401 A T 11: 74,121,879 I197F probably benign Het
Pax9 A G 12: 56,700,075 N232S probably benign Het
Pdcd6ip A G 9: 113,697,518 S108P possibly damaging Het
Pitpnc1 T C 11: 107,212,643 E210G possibly damaging Het
Prdm10 T C 9: 31,360,812 probably benign Het
Prl4a1 G A 13: 28,021,460 G136E probably damaging Het
Pstpip2 A G 18: 77,874,294 S255G probably benign Het
Rimbp3 T G 16: 17,209,743 S344A probably benign Het
Rint1 A G 5: 23,794,431 T73A probably benign Het
Rnf145 T C 11: 44,555,212 V291A possibly damaging Het
Rrm1 T A 7: 102,454,507 L221* probably null Het
Scn11a A G 9: 119,770,506 L1114P probably benign Het
Slc44a4 A G 17: 34,930,240 probably benign Het
Sorl1 A C 9: 41,974,094 N2070K probably damaging Het
Spaca7 C T 8: 12,580,941 probably benign Het
Srsf6 G T 2: 162,931,707 V13F probably damaging Het
Stab1 G T 14: 31,161,357 T336N probably benign Het
Strbp A G 2: 37,586,504 probably benign Het
Tbc1d4 A G 14: 101,608,112 F117L probably damaging Het
Ticrr A G 7: 79,677,283 K580E probably damaging Het
Ubr4 A T 4: 139,465,322 E4225D possibly damaging Het
Uck1 A T 2: 32,259,669 V66D probably damaging Het
Vmn2r25 A G 6: 123,853,171 F7S probably benign Het
Zan C T 5: 137,387,820 probably null Het
Zfp819 T A 7: 43,611,979 probably benign Het
Other mutations in Tcf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Tcf20 APN 15 82857142 missense possibly damaging 0.50
IGL00539:Tcf20 APN 15 82852756 missense probably benign 0.41
IGL00576:Tcf20 APN 15 82856075 missense probably damaging 1.00
IGL01135:Tcf20 APN 15 82853900 missense probably benign
IGL01670:Tcf20 APN 15 82855363 missense possibly damaging 0.77
IGL01684:Tcf20 APN 15 82857160 missense probably damaging 1.00
IGL01767:Tcf20 APN 15 82856008 missense probably damaging 1.00
IGL01825:Tcf20 APN 15 82852966 missense probably benign
IGL01834:Tcf20 APN 15 82855697 missense probably damaging 0.99
IGL01836:Tcf20 APN 15 82855155 missense probably damaging 0.99
IGL02415:Tcf20 APN 15 82853459 missense probably benign 0.28
IGL02731:Tcf20 APN 15 82853237 missense probably benign 0.00
IGL02739:Tcf20 APN 15 82856080 missense probably damaging 1.00
IGL03058:Tcf20 APN 15 82852004 missense probably damaging 0.96
PIT4131001:Tcf20 UTSW 15 82851584 missense probably damaging 0.96
R0184:Tcf20 UTSW 15 82852300 missense probably damaging 0.99
R0207:Tcf20 UTSW 15 82855085 missense probably benign
R0732:Tcf20 UTSW 15 82852303 missense probably benign 0.07
R1502:Tcf20 UTSW 15 82855576 missense probably damaging 1.00
R1575:Tcf20 UTSW 15 82855492 missense probably benign 0.19
R1719:Tcf20 UTSW 15 82852777 missense probably benign 0.03
R1997:Tcf20 UTSW 15 82857230 nonsense probably null
R2152:Tcf20 UTSW 15 82855602 missense probably damaging 1.00
R2173:Tcf20 UTSW 15 82854692 missense possibly damaging 0.62
R2288:Tcf20 UTSW 15 82851685 missense probably benign
R4049:Tcf20 UTSW 15 82853429 missense probably damaging 1.00
R4496:Tcf20 UTSW 15 82854984 missense probably damaging 1.00
R4704:Tcf20 UTSW 15 82851727 missense possibly damaging 0.49
R4892:Tcf20 UTSW 15 82854199 missense possibly damaging 0.80
R5164:Tcf20 UTSW 15 82856603 missense probably damaging 1.00
R5207:Tcf20 UTSW 15 82856185 missense probably damaging 0.98
R5219:Tcf20 UTSW 15 82856381 missense probably damaging 1.00
R5228:Tcf20 UTSW 15 82855955 missense probably benign 0.01
R5288:Tcf20 UTSW 15 82855709 missense possibly damaging 0.50
R5374:Tcf20 UTSW 15 82851957 missense probably damaging 0.99
R5384:Tcf20 UTSW 15 82856199 missense probably damaging 0.99
R5677:Tcf20 UTSW 15 82853242 missense probably benign 0.05
R5897:Tcf20 UTSW 15 82851783 nonsense probably null
R6089:Tcf20 UTSW 15 82853208 missense probably benign 0.06
R6196:Tcf20 UTSW 15 82851986 missense possibly damaging 0.89
R6229:Tcf20 UTSW 15 82854880 missense probably damaging 1.00
R6448:Tcf20 UTSW 15 82852660 missense probably benign
R6688:Tcf20 UTSW 15 82854535 missense possibly damaging 0.68
R7009:Tcf20 UTSW 15 82854682 missense probably benign 0.07
R7051:Tcf20 UTSW 15 82856078 missense probably damaging 1.00
Posted On2011-07-12