Incidental Mutation 'IGL00832:Gtf3c2'
ID11178
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: 0.599) question?
Stock #IGL00832
Quality Score
Status
Chromosome5
Chromosomal Location31156005-31180144 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to A at 31173005 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088010] [ENSMUST00000101411] [ENSMUST00000200871] [ENSMUST00000201428] [ENSMUST00000201468] [ENSMUST00000202300] [ENSMUST00000202639]
Predicted Effect unknown
Transcript: ENSMUST00000043161
AA Change: P250L
SMART Domains Protein: ENSMUSP00000047210
Gene: ENSMUSG00000029144
AA Change: P250L

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
Predicted Effect unknown
Transcript: ENSMUST00000088010
AA Change: P207L
SMART Domains Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: P207L

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 unknown
Transcript: ENSMUST00000101411
AA Change: P207L
SMART Domains Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
AA Change: P207L

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: ENSMUST00000135900
AA Change: P224L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151370
AA Change: R298C
Predicted Effect probably benign
Transcript: ENSMUST00000200871
Predicted Effect probably benign
Transcript: ENSMUST00000201428
SMART Domains Protein: ENSMUSP00000144212
Gene: ENSMUSG00000106864

DomainStartEndE-ValueType
low complexity region 99 109 N/A INTRINSIC
low complexity region 144 159 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201468
SMART Domains Protein: ENSMUSP00000144675
Gene: ENSMUSG00000106864

DomainStartEndE-ValueType
low complexity region 99 109 N/A INTRINSIC
low complexity region 144 159 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202254
Predicted Effect probably benign
Transcript: ENSMUST00000202300
SMART Domains Protein: ENSMUSP00000144249
Gene: ENSMUSG00000106864

DomainStartEndE-ValueType
low complexity region 99 109 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000202639
AA Change: P250L
SMART Domains Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: P250L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202843
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 72,455,349 Y407C probably damaging Het
Amtn T G 5: 88,385,049 H174Q possibly damaging Het
Cdon T A 9: 35,478,116 I839N probably damaging Het
Ces2g A G 8: 104,967,839 probably benign Het
Colq G T 14: 31,528,346 C367* probably null Het
Dopey2 T C 16: 93,763,401 V745A probably benign Het
E2f8 C T 7: 48,868,203 G657D probably damaging Het
Gpcpd1 G A 2: 132,546,850 T334M probably damaging Het
Gria2 T C 3: 80,707,251 D494G probably damaging Het
Gtf3c1 T C 7: 125,654,460 probably benign Het
Hnf4g G A 3: 3,641,276 C77Y probably damaging Het
Ido1 G A 8: 24,584,559 T265I possibly damaging Het
Ifih1 A G 2: 62,645,470 probably benign Het
Itga6 A G 2: 71,838,262 probably null Het
Kctd10 C A 5: 114,368,936 probably null Het
Ltk A T 2: 119,755,605 probably benign Het
Luc7l3 T C 11: 94,303,942 D84G probably benign Het
Mb21d1 A T 9: 78,434,317 C393S probably damaging Het
Mc3r A T 2: 172,249,028 I57F possibly damaging Het
Mmp1b T A 9: 7,387,023 Q63L possibly damaging Het
Ncr1 C A 7: 4,341,288 T225N possibly damaging Het
Nf2 T C 11: 4,791,123 K364E probably benign Het
Ppl A T 16: 5,088,975 L1152H probably damaging Het
Primpol A G 8: 46,581,597 V432A probably damaging Het
Rbl2 A G 8: 91,085,445 D214G probably damaging Het
Rxfp2 A T 5: 150,066,428 M425L probably benign Het
Slc5a3 T C 16: 92,077,631 M192T probably damaging Het
Tbx18 T A 9: 87,705,661 S468C probably damaging Het
Tex10 T C 4: 48,468,864 T104A probably benign Het
Unc13b T G 4: 43,258,921 V4153G probably damaging Het
Vmn1r188 A G 13: 22,088,181 T102A probably damaging Het
Other mutations in Gtf3c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Gtf3c2 APN 5 31174408 missense probably damaging 1.00
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
IGL02237:Gtf3c2 APN 5 31159053 splice site probably benign
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
R7474:Gtf3c2 UTSW 5 31167756 missense probably damaging 1.00
R7578:Gtf3c2 UTSW 5 31172997 missense probably benign
R7685:Gtf3c2 UTSW 5 31168267 missense probably damaging 1.00
R7711:Gtf3c2 UTSW 5 31170189 missense probably damaging 1.00
R7754:Gtf3c2 UTSW 5 31172831 missense probably benign 0.38
R7825:Gtf3c2 UTSW 5 31158371 missense probably damaging 0.99
Posted On2012-12-06