Incidental Mutation 'IGL02237:Gtf3c2'
ID285952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtf3c2
Ensembl Gene ENSMUSG00000106864
Gene Namegeneral transcription factor IIIC, polypeptide 2, beta
SynonymsTFIIIC110, 2610510G03Rik, TFIIIC-BETA, 1300004C11Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.520) question?
Stock #IGL02237
Quality Score
Status
Chromosome5
Chromosomal Location31156005-31180144 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 31159053 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088010] [ENSMUST00000101411] [ENSMUST00000154241] [ENSMUST00000200744] [ENSMUST00000200833] [ENSMUST00000200864] [ENSMUST00000201353] [ENSMUST00000201491] [ENSMUST00000202241] [ENSMUST00000202639]
Predicted Effect probably benign
Transcript: ENSMUST00000088010
SMART Domains Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864

DomainStartEndE-ValueType
low complexity region 99 109 N/A INTRINSIC
low complexity region 144 159 N/A INTRINSIC
low complexity region 185 200 N/A INTRINSIC
low complexity region 207 225 N/A INTRINSIC
low complexity region 249 268 N/A INTRINSIC
low complexity region 433 445 N/A INTRINSIC
WD40 452 508 6.39e0 SMART
WD40 530 580 1.6e0 SMART
WD40 598 638 3.37e-6 SMART
WD40 821 861 5.33e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101411
SMART Domains Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678

DomainStartEndE-ValueType
low complexity region 99 109 N/A INTRINSIC
low complexity region 144 159 N/A INTRINSIC
low complexity region 185 200 N/A INTRINSIC
low complexity region 207 225 N/A INTRINSIC
low complexity region 249 268 N/A INTRINSIC
low complexity region 433 445 N/A INTRINSIC
WD40 452 508 6.39e0 SMART
WD40 530 580 1.6e0 SMART
WD40 598 638 3.37e-6 SMART
Blast:WD40 807 844 2e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136581
Predicted Effect probably benign
Transcript: ENSMUST00000154241
SMART Domains Protein: ENSMUSP00000115292
Gene: ENSMUSG00000107283

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
Pfam:Mpv17_PMP22 108 175 2.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200744
SMART Domains Protein: ENSMUSP00000143843
Gene: ENSMUSG00000107283

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
Pfam:Mpv17_PMP22 103 163 5.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200833
SMART Domains Protein: ENSMUSP00000144324
Gene: ENSMUSG00000107283

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
transmembrane domain 94 116 N/A INTRINSIC
low complexity region 135 146 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200864
SMART Domains Protein: ENSMUSP00000144331
Gene: ENSMUSG00000107283

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
Pfam:Mpv17_PMP22 109 174 1.7e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201087
Predicted Effect probably benign
Transcript: ENSMUST00000201353
SMART Domains Protein: ENSMUSP00000144198
Gene: ENSMUSG00000107283

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
Pfam:Mpv17_PMP22 109 174 1.7e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201423
Predicted Effect probably benign
Transcript: ENSMUST00000201491
SMART Domains Protein: ENSMUSP00000144593
Gene: ENSMUSG00000107283

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
Pfam:Mpv17_PMP22 109 155 4.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202241
SMART Domains Protein: ENSMUSP00000144119
Gene: ENSMUSG00000107283

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
Pfam:Mpv17_PMP22 109 176 4e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202614
Predicted Effect probably benign
Transcript: ENSMUST00000202639
SMART Domains Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864

DomainStartEndE-ValueType
low complexity region 99 109 N/A INTRINSIC
low complexity region 144 159 N/A INTRINSIC
low complexity region 232 243 N/A INTRINSIC
low complexity region 250 268 N/A INTRINSIC
low complexity region 292 311 N/A INTRINSIC
low complexity region 476 488 N/A INTRINSIC
WD40 495 551 6.39e0 SMART
WD40 573 623 1.6e0 SMART
WD40 641 681 3.37e-6 SMART
WD40 864 904 5.33e0 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b T A 2: 181,493,557 V84E probably benign Het
Adam39 A T 8: 40,825,445 E291V probably benign Het
Ak5 T A 3: 152,499,343 D372V probably benign Het
Brpf1 C T 6: 113,310,375 P188L probably damaging Het
Cacna2d3 C T 14: 29,346,997 V258I probably benign Het
Cd14 A G 18: 36,725,859 F181S probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cts6 A T 13: 61,197,499 D261E probably benign Het
Daam1 A G 12: 71,982,721 T897A probably benign Het
Ddx25 T A 9: 35,542,069 probably benign Het
Ddx55 A G 5: 124,567,895 E461G probably damaging Het
Degs1 T C 1: 182,279,688 K2R probably damaging Het
Drc7 C T 8: 95,072,879 L561F probably damaging Het
Eif4enif1 A T 11: 3,227,876 K423* probably null Het
Epha7 A G 4: 28,949,325 probably null Het
Erich5 A C 15: 34,471,336 E237A probably benign Het
Ficd A G 5: 113,738,312 T183A probably damaging Het
Foxb2 T C 19: 16,873,544 M33V unknown Het
Gja8 T G 3: 96,919,933 S138R probably benign Het
Gm28042 T G 2: 120,039,899 L743V possibly damaging Het
Itga11 T C 9: 62,755,775 probably null Het
Kazn A T 4: 142,147,099 D315E probably benign Het
Kbtbd2 A T 6: 56,779,048 S568T possibly damaging Het
Man1c1 A C 4: 134,584,298 probably null Het
Myh9 A G 15: 77,786,654 S463P probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Oog2 T A 4: 144,196,446 F427Y possibly damaging Het
Pcmtd1 T C 1: 7,163,377 probably null Het
Pcnt C A 10: 76,352,984 D2861Y probably damaging Het
Pdzd7 C T 19: 45,040,258 A149T probably damaging Het
Pebp4 A T 14: 70,059,656 T215S possibly damaging Het
Pgm2 T C 4: 99,963,510 probably benign Het
Plekhh2 T A 17: 84,575,785 D760E probably benign Het
Pomt1 T C 2: 32,245,677 I351T probably benign Het
Ptpn21 C T 12: 98,705,092 probably null Het
Rsad2 T G 12: 26,456,187 Y78S probably damaging Het
Rsbn1l A T 5: 20,919,606 N399K probably benign Het
Sec31a A G 5: 100,362,055 V1191A probably damaging Het
Sema6c C T 3: 95,170,119 P414L probably damaging Het
Serpinb5 T C 1: 106,880,326 S69P probably benign Het
Slc25a13 C T 6: 6,042,646 R586H probably damaging Het
Spink5 T A 18: 44,012,867 M776K probably benign Het
Srcap A G 7: 127,534,692 probably benign Het
Stt3a G A 9: 36,749,637 Q293* probably null Het
Syne4 T A 7: 30,316,563 probably null Het
Tomm40l C T 1: 171,220,894 V97M possibly damaging Het
Trpc4 C T 3: 54,222,362 S183F probably damaging Het
Ttn C T 2: 76,886,134 probably benign Het
Ufl1 A C 4: 25,269,082 S170A probably benign Het
Vmn2r66 G A 7: 84,994,700 T834I probably benign Het
Vmn2r75 A G 7: 86,165,578 S236P possibly damaging Het
Zfp345 A T 2: 150,474,885 probably benign Het
Zfp955b T C 17: 33,301,919 S121P probably damaging Het
Other mutations in Gtf3c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Gtf3c2 APN 5 31174408 missense probably damaging 1.00
IGL00832:Gtf3c2 APN 5 31173005 unclassified probably benign
IGL00904:Gtf3c2 APN 5 31172858 missense probably damaging 1.00
IGL00966:Gtf3c2 APN 5 31170173 critical splice donor site probably benign 0.00
IGL01061:Gtf3c2 APN 5 31168354 missense possibly damaging 0.94
IGL01148:Gtf3c2 APN 5 31159824 missense probably damaging 1.00
IGL01767:Gtf3c2 APN 5 31157635 missense probably benign 0.08
IGL02458:Gtf3c2 APN 5 31159523 critical splice acceptor site probably null
IGL02888:Gtf3c2 APN 5 31173825 missense probably damaging 1.00
IGL03035:Gtf3c2 APN 5 31166014 missense possibly damaging 0.96
IGL03131:Gtf3c2 APN 5 31157620 missense probably damaging 0.98
R0534:Gtf3c2 UTSW 5 31158132 splice site probably benign
R0581:Gtf3c2 UTSW 5 31159518 nonsense probably null
R0634:Gtf3c2 UTSW 5 31159806 nonsense probably null
R1172:Gtf3c2 UTSW 5 31168075 missense probably damaging 1.00
R1511:Gtf3c2 UTSW 5 31159102 missense probably benign 0.15
R1680:Gtf3c2 UTSW 5 31173868 missense probably damaging 1.00
R1726:Gtf3c2 UTSW 5 31169123 missense possibly damaging 0.82
R1831:Gtf3c2 UTSW 5 31168369 missense probably damaging 1.00
R2006:Gtf3c2 UTSW 5 31168096 missense probably damaging 0.99
R2437:Gtf3c2 UTSW 5 31159698 critical splice donor site probably null
R4732:Gtf3c2 UTSW 5 31160057 missense probably damaging 0.97
R4733:Gtf3c2 UTSW 5 31160057 missense probably damaging 0.97
R4787:Gtf3c2 UTSW 5 31157577 missense probably benign 0.03
R4817:Gtf3c2 UTSW 5 31174090 critical splice acceptor site probably null
R4863:Gtf3c2 UTSW 5 31159233 intron probably benign
R4926:Gtf3c2 UTSW 5 31169123 missense possibly damaging 0.82
R5508:Gtf3c2 UTSW 5 31174461 nonsense probably null
R5704:Gtf3c2 UTSW 5 31159110 missense probably damaging 1.00
R5737:Gtf3c2 UTSW 5 31168249 critical splice donor site probably null
R5868:Gtf3c2 UTSW 5 31168081 missense possibly damaging 0.94
R6174:Gtf3c2 UTSW 5 31158211 missense probably damaging 1.00
R6705:Gtf3c2 UTSW 5 31166008 missense possibly damaging 0.93
R6782:Gtf3c2 UTSW 5 31169836 missense probably benign 0.01
R6893:Gtf3c2 UTSW 5 31166378 missense probably benign 0.06
R7363:Gtf3c2 UTSW 5 31170256 missense probably damaging 1.00
Posted On2015-04-16