Incidental Mutation 'IGL03131:Gtf3c2'
ID410347
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 non essential (E-score: 0.488) question?
Stock #IGL03131
Quality Score
Status
Chromosome5
Chromosomal Location31156005-31180144 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 31157620 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 885 (F885I)
Ref Sequence ENSEMBL: ENSMUSP00000085325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088010] [ENSMUST00000101411] [ENSMUST00000154241] [ENSMUST00000200744] [ENSMUST00000200833] [ENSMUST00000200864] [ENSMUST00000201353] [ENSMUST00000201491] [ENSMUST00000202241] [ENSMUST00000202639]
Predicted Effect probably damaging
Transcript: ENSMUST00000088010
AA Change: F885I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: F885I

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 noncoding transcript
Transcript: ENSMUST00000202203
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 damaging
Transcript: ENSMUST00000202639
AA Change: F928I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: F928I

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A C 3: 121,679,602 R135S unknown Het
A1bg T C 15: 60,919,756 Y277C probably damaging Het
Abca12 A T 1: 71,346,702 F252L probably benign Het
Abcd3 A T 3: 121,781,991 probably benign Het
Acvr2b C A 9: 119,431,284 F364L possibly damaging Het
Adamts12 T C 15: 11,345,564 C1564R probably damaging Het
Agap3 A G 5: 24,477,132 T392A probably benign Het
Ano1 A G 7: 144,603,585 F767L possibly damaging Het
Atg10 C A 13: 90,937,293 R179I probably null Het
Bsph1 A T 7: 13,473,087 K129N probably damaging Het
Calml4 A G 9: 62,875,483 D77G probably benign Het
Cc2d1a T A 8: 84,143,427 K153M probably damaging Het
Col4a2 G A 8: 11,425,979 V672I probably benign Het
Crnkl1 T C 2: 145,932,258 K95R probably benign Het
Crtap T C 9: 114,380,004 D324G possibly damaging Het
Csmd1 C T 8: 16,088,217 G1607E probably damaging Het
Dcbld2 T G 16: 58,451,688 I369R probably benign Het
Dmc1 T A 15: 79,568,691 I246L probably benign Het
Dock1 G T 7: 134,874,183 V896L possibly damaging Het
Eftud2 G A 11: 102,870,183 T112M probably damaging Het
F5 A T 1: 164,161,819 I97F possibly damaging Het
Fam208a C T 14: 27,461,179 Q532* probably null Het
Fasn C T 11: 120,810,724 V1939M possibly damaging Het
Gpatch2l T C 12: 86,281,511 V414A probably benign Het
Gpd2 T C 2: 57,338,843 probably benign Het
Gria4 T G 9: 4,432,876 N769T probably damaging Het
Ifi209 C T 1: 173,641,234 T210I possibly damaging Het
Kmt2c A G 5: 25,315,361 V1917A probably benign Het
Mad1l1 G A 5: 140,307,703 A120V probably benign Het
Mef2c T C 13: 83,662,375 I382T probably damaging Het
Ms4a14 A T 19: 11,307,692 L171I probably benign Het
Myf6 T A 10: 107,494,271 Q145L probably damaging Het
Myh3 G A 11: 67,091,109 probably benign Het
Nbas A G 12: 13,279,416 I121V probably benign Het
Ncoa2 A T 1: 13,177,174 S342T probably damaging Het
Nlrp1b C T 11: 71,161,915 D896N possibly damaging Het
Prss41 A G 17: 23,842,524 Y98H probably benign Het
Ptpn13 A T 5: 103,517,559 T450S probably benign Het
Rab39 G A 9: 53,686,561 R135C probably damaging Het
Radil A G 5: 142,495,342 V570A probably damaging Het
Sbno1 C T 5: 124,388,605 R949Q probably damaging Het
Sec61a2 T A 2: 5,882,878 K98* probably null Het
Serbp1 T A 6: 67,281,823 probably null Het
Serpinb3c G T 1: 107,271,727 Q355K probably benign Het
Slc34a3 T G 2: 25,231,234 D307A probably benign Het
Smarcad1 T A 6: 65,074,953 S357T probably damaging Het
Spag17 G A 3: 100,010,759 D353N possibly damaging Het
Spdl1 T A 11: 34,830,765 Q39L possibly damaging Het
Syne2 A C 12: 76,057,490 Q5485P probably damaging Het
Synj1 C A 16: 90,988,168 V227F probably damaging Het
Syt12 T C 19: 4,456,854 T88A probably benign Het
Tlr12 A G 4: 128,615,877 F860S probably damaging Het
Trdn C A 10: 33,398,414 S461* probably null Het
Trip4 G A 9: 65,857,445 P413S probably benign Het
Wdr17 A G 8: 54,696,267 probably null Het
Wnt9a T C 11: 59,331,029 L251P probably damaging Het
Xrcc1 A T 7: 24,573,294 K618* probably null Het
Zfp759 T C 13: 67,138,664 L93P 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
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
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 On2016-08-02