Incidental Mutation 'IGL01670:Tcf20'
ID103432
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: 0.672) question?
Stock #IGL01670
Quality Score
Status
Chromosome15
Chromosomal Location82808436-82987872 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 82855363 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 629 (N629S)
Ref Sequence ENSEMBL: ENSMUSP00000105136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048966] [ENSMUST00000109510] [ENSMUST00000229439] [ENSMUST00000229547] [ENSMUST00000230403]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048966
AA Change: N629S

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: N629S

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: N629S

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: N629S

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 A C 9: 106,436,807 probably benign Het
Add1 C A 5: 34,620,063 Q57K probably damaging Het
Alms1 A G 6: 85,678,150 E3226G probably benign Het
Arl1 G T 10: 88,742,022 R151L probably damaging Het
Cabs1 T A 5: 87,980,010 D173E possibly damaging Het
Cdc34b T C 11: 94,742,019 L15P probably benign Het
Cdyl2 A G 8: 116,624,353 V13A probably damaging Het
Chd7 G T 4: 8,827,033 R1026L probably damaging Het
Cldn34b4 T C X: 76,397,589 S151P probably damaging Het
Col14a1 T A 15: 55,329,266 I25N unknown Het
Crisp4 T A 1: 18,128,677 T178S probably benign Het
Csmd2 C T 4: 128,513,371 probably benign Het
Csmd3 T G 15: 47,611,829 N2454H probably damaging Het
Cytip A T 2: 58,133,773 I345N probably damaging Het
Frem2 A T 3: 53,656,937 S50T possibly damaging Het
Gm12666 T C 4: 92,191,500 probably null Het
Gm9747 C T 1: 82,234,149 probably benign Het
Gpr37 A G 6: 25,669,834 F337S probably damaging Het
Herc1 A G 9: 66,487,060 E4182G probably damaging Het
Isyna1 C T 8: 70,597,056 P511L probably benign Het
Kdm4a T C 4: 118,160,501 Y456C probably damaging Het
Kera A T 10: 97,609,077 R99S possibly damaging Het
Mcm2 A G 6: 88,887,632 probably benign Het
Myl12a T C 17: 70,996,853 T10A probably benign Het
Nav3 A G 10: 109,714,241 V1876A possibly damaging Het
Nkx6-1 T A 5: 101,661,940 Q247L probably benign Het
Nol8 A C 13: 49,661,308 K297N possibly damaging Het
Olfr1143 A G 2: 87,802,880 T164A probably benign Het
Olfr1224-ps1 T A 2: 89,156,917 Y86F probably benign Het
Olfr558 A T 7: 102,709,565 Q102L probably damaging Het
Pard3b A T 1: 62,211,648 N579Y probably damaging Het
Pdcd11 T A 19: 47,106,304 L509H probably damaging Het
Prss29 T C 17: 25,322,463 S266P probably benign Het
Rapgef3 G T 15: 97,749,662 H766N probably benign Het
Rasa1 A T 13: 85,225,490 S818T probably damaging Het
Rtn4ip1 A G 10: 43,928,326 M1V probably null Het
Sall1 A T 8: 89,031,571 V635D probably benign Het
Slc35b4 C T 6: 34,170,549 V35I probably benign Het
Slc5a11 G A 7: 123,269,949 A587T probably benign Het
Slc6a21 T C 7: 45,288,133 V616A possibly damaging Het
Sorl1 A G 9: 42,001,492 S1398P possibly damaging Het
Srcap A G 7: 127,528,432 K390E probably damaging Het
Sycp2 C T 2: 178,378,050 E558K probably benign Het
Tmem154 A G 3: 84,684,230 Y29C probably damaging Het
Tmtc3 A G 10: 100,447,125 I856T probably benign Het
Zswim6 A G 13: 107,728,566 noncoding transcript Het
Other mutations in Tcf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Tcf20 APN 15 82854895 missense probably damaging 1.00
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
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
R7215:Tcf20 UTSW 15 82853489 missense probably benign
R7486:Tcf20 UTSW 15 82853734 missense possibly damaging 0.78
R7583:Tcf20 UTSW 15 82855276 missense possibly damaging 0.82
R7678:Tcf20 UTSW 15 82851565 missense possibly damaging 0.92
R8090:Tcf20 UTSW 15 82856006 missense probably damaging 1.00
R8156:Tcf20 UTSW 15 82852937 missense probably benign 0.00
R8191:Tcf20 UTSW 15 82853405 nonsense probably null
R8259:Tcf20 UTSW 15 82852273 missense probably damaging 1.00
RF019:Tcf20 UTSW 15 82851593 missense probably benign 0.00
Posted On2014-01-21