Incidental Mutation 'R5704:Gtf3c2'
ID 451833
Institutional Source Beutler Lab
Gene Symbol Gtf3c2
Ensembl Gene ENSMUSG00000106864
Gene Name general transcription factor IIIC, polypeptide 2, beta
Synonyms 2610510G03Rik, 1300004C11Rik, TFIIIC110, TFIIIC-BETA
MMRRC Submission 043329-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.578) question?
Stock # R5704 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 31313350-31337488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31316454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 732 (D732V)
Ref Sequence ENSEMBL: ENSMUSP00000098957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088010] [ENSMUST00000101411] [ENSMUST00000154241] [ENSMUST00000200744] [ENSMUST00000202639] [ENSMUST00000202241] [ENSMUST00000200833] [ENSMUST00000200864] [ENSMUST00000201491] [ENSMUST00000201353]
AlphaFold Q8BL74
Predicted Effect probably damaging
Transcript: ENSMUST00000088010
AA Change: D732V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: D732V

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 damaging
Transcript: ENSMUST00000101411
AA Change: D732V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
AA Change: D732V

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: ENSMUST00000126745
AA Change: D91V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151370
AA Change: D882V
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 noncoding transcript
Transcript: ENSMUST00000201423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202254
Predicted Effect possibly damaging
Transcript: ENSMUST00000202639
AA Change: D775V

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: D775V

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: ENSMUST00000202375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202614
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 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 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: 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
Meta Mutation Damage Score 0.5385 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (85/87)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 G A 5: 105,116,036 (GRCm39) A266V probably damaging Het
Acad10 A G 5: 121,769,606 (GRCm39) S617P probably benign Het
Ahi1 A C 10: 20,950,326 (GRCm39) M126L probably benign Het
Alk T C 17: 72,910,115 (GRCm39) E197G probably damaging Het
Alyref2 A T 1: 171,331,547 (GRCm39) Y108F probably damaging Het
Ankrd26 T G 6: 118,500,843 (GRCm39) H876P probably damaging Het
Arfgef1 T C 1: 10,229,808 (GRCm39) T1298A probably damaging Het
Arhgap33 T A 7: 30,219,045 (GRCm39) probably benign Het
Arhgef17 A G 7: 100,530,548 (GRCm39) S1413P probably damaging Het
Arid1a A T 4: 133,409,050 (GRCm39) V1819E unknown Het
Asprv1 A G 6: 86,605,532 (GRCm39) N126S probably damaging Het
Atg16l2 T C 7: 100,949,418 (GRCm39) Y43C probably damaging Het
Atp13a3 G T 16: 30,140,697 (GRCm39) T1160K probably benign Het
Atp1a3 T C 7: 24,696,736 (GRCm39) T272A probably damaging Het
Bpifa3 G T 2: 153,979,562 (GRCm39) probably null Het
Bri3 T C 5: 144,192,716 (GRCm39) V80A probably damaging Het
Ccdc28a T A 10: 18,106,320 (GRCm39) E2V probably damaging Het
Ccdc7a T A 8: 129,706,577 (GRCm39) probably benign Het
Cds2 G A 2: 132,135,249 (GRCm39) V47I probably benign Het
Cela2a G A 4: 141,553,299 (GRCm39) probably benign Het
Ckap5 A G 2: 91,406,548 (GRCm39) Y783C probably damaging Het
Cmtr1 G C 17: 29,882,217 (GRCm39) A23P possibly damaging Het
Crym C A 7: 119,801,163 (GRCm39) probably null Het
Def6 T G 17: 28,447,200 (GRCm39) D610E probably benign Het
Dnajc15 T C 14: 78,063,898 (GRCm39) Y130C probably damaging Het
Dock8 G A 19: 25,151,586 (GRCm39) V1560I probably damaging Het
Eif4g3 T C 4: 137,918,003 (GRCm39) V1501A probably damaging Het
Esyt1 A G 10: 128,347,379 (GRCm39) S1049P probably damaging Het
Gm4952 G T 19: 12,604,275 (GRCm39) R229L probably damaging Het
Golga5 T A 12: 102,455,707 (GRCm39) H548Q probably benign Het
Gspt1 A T 16: 11,046,057 (GRCm39) D449E possibly damaging Het
Hax1 T A 3: 89,903,403 (GRCm39) Q168L probably damaging Het
Hectd2 T A 19: 36,576,291 (GRCm39) S91T possibly damaging Het
Igfbp2 T A 1: 72,891,303 (GRCm39) H300Q probably benign Het
Il12rb2 T C 6: 67,269,197 (GRCm39) N538S possibly damaging Het
Insr G A 8: 3,235,122 (GRCm39) P124L possibly damaging Het
Irak3 C A 10: 119,981,594 (GRCm39) R437L probably benign Het
Jhy C T 9: 40,808,734 (GRCm39) V676I probably damaging Het
Kcns3 G A 12: 11,142,328 (GRCm39) R124C probably benign Het
Lactb G A 9: 66,863,058 (GRCm39) R519* probably null Het
Mdfic G A 6: 15,770,291 (GRCm39) G94D probably damaging Het
Mospd3 A G 5: 137,598,613 (GRCm39) V42A possibly damaging Het
Mov10 A G 3: 104,706,912 (GRCm39) V666A probably benign Het
Mucl1 T C 15: 103,785,663 (GRCm39) I15V probably benign Het
Mug1 T A 6: 121,828,392 (GRCm39) V268D possibly damaging Het
Myo5c T A 9: 75,180,185 (GRCm39) S709T probably benign Het
Nol11 T A 11: 107,064,195 (GRCm39) E519V probably benign Het
Nrp2 A T 1: 62,824,267 (GRCm39) I791L probably benign Het
Nudt19 A G 7: 35,250,972 (GRCm39) Y256H probably benign Het
Nudt8 C T 19: 4,050,777 (GRCm39) R42C probably damaging Het
Or5ac16 A G 16: 59,022,369 (GRCm39) L140P probably damaging Het
Or6c213 T A 10: 129,574,685 (GRCm39) I34F probably benign Het
Pcdhga12 A G 18: 37,900,422 (GRCm39) Y418C probably damaging Het
Pds5a A G 5: 65,784,422 (GRCm39) probably null Het
Pdzd2 T C 15: 12,385,761 (GRCm39) D1003G probably benign Het
Pglyrp4 T A 3: 90,647,581 (GRCm39) probably null Het
Phip T C 9: 82,753,408 (GRCm39) N1779D probably damaging Het
Postn G T 3: 54,279,527 (GRCm39) C335F probably damaging Het
Ppp4r3a T C 12: 101,049,619 (GRCm39) probably benign Het
Prrt2 C T 7: 126,618,590 (GRCm39) V292M probably damaging Het
Rpl18 T C 7: 45,370,146 (GRCm39) V138A possibly damaging Het
Rps14 G A 18: 60,910,205 (GRCm39) probably benign Het
Sbno1 A G 5: 124,533,956 (GRCm39) probably null Het
Siah2 T G 3: 58,583,821 (GRCm39) K155T probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc25a39 T A 11: 102,294,220 (GRCm39) probably benign Het
Slco1a7 T C 6: 141,658,980 (GRCm39) M539V probably benign Het
Smok2b T A 17: 13,455,231 (GRCm39) C464S probably damaging Het
Spata31 G A 13: 65,069,855 (GRCm39) V668I probably benign Het
Tbxas1 C A 6: 38,998,067 (GRCm39) H212N probably benign Het
Tenm1 A G X: 42,163,572 (GRCm39) V107A possibly damaging Het
Thada C T 17: 84,538,329 (GRCm39) A1560T probably benign Het
Tmem241 G C 18: 12,197,263 (GRCm39) F65L probably damaging Het
Ttc16 C G 2: 32,659,137 (GRCm39) E321Q probably damaging Het
Ttn A T 2: 76,748,929 (GRCm39) L4040H possibly damaging Het
Tyw1 G A 5: 130,310,863 (GRCm39) W437* probably null Het
Unc79 T A 12: 102,968,202 (GRCm39) Y143N probably damaging Het
Urb2 C T 8: 124,764,921 (GRCm39) R1310W probably damaging Het
Vmn2r4 T C 3: 64,317,370 (GRCm39) I34V probably benign Het
Zfp513 C T 5: 31,358,010 (GRCm39) C121Y possibly damaging Het
Zfp606 T G 7: 12,227,456 (GRCm39) W468G probably damaging Het
Zfyve16 C T 13: 92,640,979 (GRCm39) probably null Het
Other mutations in Gtf3c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Gtf3c2 APN 5 31,331,752 (GRCm39) missense probably damaging 1.00
IGL00832:Gtf3c2 APN 5 31,330,349 (GRCm39) unclassified probably benign
IGL00904:Gtf3c2 APN 5 31,330,202 (GRCm39) missense probably damaging 1.00
IGL00966:Gtf3c2 APN 5 31,327,517 (GRCm39) critical splice donor site probably benign 0.00
IGL01061:Gtf3c2 APN 5 31,325,698 (GRCm39) missense possibly damaging 0.94
IGL01148:Gtf3c2 APN 5 31,317,168 (GRCm39) missense probably damaging 1.00
IGL01767:Gtf3c2 APN 5 31,314,979 (GRCm39) missense probably benign 0.08
IGL02237:Gtf3c2 APN 5 31,316,397 (GRCm39) splice site probably benign
IGL02458:Gtf3c2 APN 5 31,316,867 (GRCm39) critical splice acceptor site probably null
IGL02888:Gtf3c2 APN 5 31,331,169 (GRCm39) missense probably damaging 1.00
IGL03035:Gtf3c2 APN 5 31,323,358 (GRCm39) missense possibly damaging 0.96
IGL03131:Gtf3c2 APN 5 31,314,964 (GRCm39) missense probably damaging 0.98
R0534:Gtf3c2 UTSW 5 31,315,476 (GRCm39) splice site probably benign
R0581:Gtf3c2 UTSW 5 31,316,862 (GRCm39) nonsense probably null
R0634:Gtf3c2 UTSW 5 31,317,150 (GRCm39) nonsense probably null
R1172:Gtf3c2 UTSW 5 31,325,419 (GRCm39) missense probably damaging 1.00
R1511:Gtf3c2 UTSW 5 31,316,446 (GRCm39) missense probably benign 0.15
R1680:Gtf3c2 UTSW 5 31,331,212 (GRCm39) missense probably damaging 1.00
R1726:Gtf3c2 UTSW 5 31,326,467 (GRCm39) missense possibly damaging 0.82
R1831:Gtf3c2 UTSW 5 31,325,713 (GRCm39) missense probably damaging 1.00
R2006:Gtf3c2 UTSW 5 31,325,440 (GRCm39) missense probably damaging 0.99
R2437:Gtf3c2 UTSW 5 31,317,042 (GRCm39) critical splice donor site probably null
R4732:Gtf3c2 UTSW 5 31,317,401 (GRCm39) missense probably damaging 0.97
R4733:Gtf3c2 UTSW 5 31,317,401 (GRCm39) missense probably damaging 0.97
R4787:Gtf3c2 UTSW 5 31,314,921 (GRCm39) missense probably benign 0.03
R4817:Gtf3c2 UTSW 5 31,331,434 (GRCm39) critical splice acceptor site probably null
R4863:Gtf3c2 UTSW 5 31,316,577 (GRCm39) intron probably benign
R4926:Gtf3c2 UTSW 5 31,326,467 (GRCm39) missense possibly damaging 0.82
R5508:Gtf3c2 UTSW 5 31,331,805 (GRCm39) nonsense probably null
R5737:Gtf3c2 UTSW 5 31,325,593 (GRCm39) critical splice donor site probably null
R5868:Gtf3c2 UTSW 5 31,325,425 (GRCm39) missense possibly damaging 0.94
R6174:Gtf3c2 UTSW 5 31,315,555 (GRCm39) missense probably damaging 1.00
R6705:Gtf3c2 UTSW 5 31,323,352 (GRCm39) missense possibly damaging 0.93
R6782:Gtf3c2 UTSW 5 31,327,180 (GRCm39) missense probably benign 0.01
R6893:Gtf3c2 UTSW 5 31,323,722 (GRCm39) missense probably benign 0.06
R7363:Gtf3c2 UTSW 5 31,327,600 (GRCm39) missense probably damaging 1.00
R7474:Gtf3c2 UTSW 5 31,325,100 (GRCm39) missense probably damaging 1.00
R7578:Gtf3c2 UTSW 5 31,330,341 (GRCm39) missense probably benign
R7685:Gtf3c2 UTSW 5 31,325,611 (GRCm39) missense probably damaging 1.00
R7711:Gtf3c2 UTSW 5 31,327,533 (GRCm39) missense probably damaging 1.00
R7754:Gtf3c2 UTSW 5 31,330,175 (GRCm39) missense probably benign 0.38
R7825:Gtf3c2 UTSW 5 31,315,715 (GRCm39) missense probably damaging 0.99
R7994:Gtf3c2 UTSW 5 31,327,217 (GRCm39) missense possibly damaging 0.60
R8430:Gtf3c2 UTSW 5 31,330,403 (GRCm39) missense probably damaging 1.00
R8772:Gtf3c2 UTSW 5 31,331,758 (GRCm39) missense probably benign 0.26
R8950:Gtf3c2 UTSW 5 31,331,151 (GRCm39) missense probably damaging 1.00
R9221:Gtf3c2 UTSW 5 31,326,401 (GRCm39) missense probably damaging 1.00
R9451:Gtf3c2 UTSW 5 31,325,773 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTGACTCTCCAAAGCTGC -3'
(R):5'- TGGTAACTGCATCATTAGGGACAAG -3'

Sequencing Primer
(F):5'- TCCAAAGCTGCCCCTTGG -3'
(R):5'- CTGCATCATTAGGGACAAGAATTG -3'
Posted On 2017-01-03