Incidental Mutation 'R1172:Gtf3c2'
ID 99545
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 039245-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.578) question?
Stock # R1172 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 31313350-31337488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31325419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 500 (Y500N)
Ref Sequence ENSEMBL: ENSMUSP00000144489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088010] [ENSMUST00000101411] [ENSMUST00000200871] [ENSMUST00000202639]
AlphaFold Q8BL74
Predicted Effect probably damaging
Transcript: ENSMUST00000043161
AA Change: Y500N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047210
Gene: ENSMUSG00000029144
AA Change: Y500N

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 probably damaging
Transcript: ENSMUST00000088010
AA Change: Y457N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: Y457N

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: Y457N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
AA Change: Y457N

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 probably benign
Transcript: ENSMUST00000200871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202218
Predicted Effect probably damaging
Transcript: ENSMUST00000202639
AA Change: Y500N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: Y500N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202254
Meta Mutation Damage Score 0.5137 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,696,589 (GRCm39) probably benign Het
Adam7 T G 14: 68,752,370 (GRCm39) K371N probably damaging Het
Adgrv1 A T 13: 81,705,182 (GRCm39) S1543T probably damaging Het
Agbl4 A T 4: 111,513,515 (GRCm39) probably benign Het
Arid1b T A 17: 5,389,575 (GRCm39) I1707N probably damaging Het
Atp10a T C 7: 58,453,514 (GRCm39) V864A probably benign Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Bst1 A G 5: 43,982,750 (GRCm39) probably null Het
C9orf72 C A 4: 35,218,630 (GRCm39) E76D probably damaging Het
Cblb T C 16: 52,006,603 (GRCm39) probably benign Het
Ccdc28b T C 4: 129,514,682 (GRCm39) probably benign Het
Cmas G T 6: 142,702,604 (GRCm39) G36C probably benign Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Epc1 A C 18: 6,490,525 (GRCm39) Y31D probably damaging Het
Fbn1 A T 2: 125,236,607 (GRCm39) C358S probably benign Het
Fbxl13 A T 5: 21,825,602 (GRCm39) probably benign Het
Fermt2 T C 14: 45,697,425 (GRCm39) D642G possibly damaging Het
Fmnl2 A T 2: 52,962,286 (GRCm39) N257I probably damaging Het
Fry G A 5: 150,404,959 (GRCm39) W793* probably null Het
Fsd2 T C 7: 81,209,518 (GRCm39) D108G probably benign Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm10801 C T 2: 98,494,252 (GRCm39) probably benign Het
Gm21718 T C 14: 51,553,348 (GRCm39) noncoding transcript Het
Gpld1 A G 13: 25,141,549 (GRCm39) probably null Het
Hbs1l A G 10: 21,180,537 (GRCm39) D73G probably damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Kank4 T C 4: 98,653,806 (GRCm39) Y874C probably damaging Het
Lamc2 A T 1: 153,042,033 (GRCm39) S34T probably damaging Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Lrrc19 A T 4: 94,526,626 (GRCm39) Y310* probably null Het
Map3k5 G A 10: 19,932,394 (GRCm39) probably benign Het
Map7 G A 10: 20,121,045 (GRCm39) E92K probably damaging Het
Mettl24 G A 10: 40,613,704 (GRCm39) A148T probably benign Het
Mosmo A G 7: 120,329,745 (GRCm39) Y122C probably benign Het
Ncr1 T A 7: 4,341,120 (GRCm39) I37N probably benign Het
Nkx3-1 T C 14: 69,429,434 (GRCm39) S151P probably damaging Het
Npm2 T A 14: 70,889,661 (GRCm39) K54* probably null Het
Npr1 T A 3: 90,368,689 (GRCm39) D457V probably benign Het
Nudt21 T C 8: 94,757,757 (GRCm39) probably benign Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Pik3r4 G T 9: 105,540,373 (GRCm39) G754C probably damaging Het
Rftn2 A G 1: 55,250,376 (GRCm39) V123A probably damaging Het
Rpa1 A T 11: 75,203,219 (GRCm39) V392D probably damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Slc45a4 C T 15: 73,477,278 (GRCm39) probably benign Het
Syndig1l T A 12: 84,725,942 (GRCm39) probably null Het
Tctn1 G A 5: 122,389,752 (GRCm39) R257* probably null Het
Tenm4 A T 7: 96,497,251 (GRCm39) E1179V probably damaging Het
Txlnb A G 10: 17,718,504 (GRCm39) N445S probably benign Het
Tyrp1 C T 4: 80,763,105 (GRCm39) Q331* probably null Het
Ubap2l A T 3: 89,930,807 (GRCm39) S413T probably benign Het
Vdr A T 15: 97,767,214 (GRCm39) Y185N probably benign Het
Vmn2r66 G T 7: 84,654,799 (GRCm39) D503E probably benign Het
Vmn2r72 T A 7: 85,401,152 (GRCm39) E89V probably damaging Het
Vmn2r87 T C 10: 130,313,453 (GRCm39) T438A probably benign Het
Xrcc6 A G 15: 81,915,364 (GRCm39) D94G probably damaging Het
Ywhaq T C 12: 21,445,024 (GRCm39) N207S probably benign Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly damaging Het
Zfp981 G A 4: 146,622,221 (GRCm39) S382N probably benign 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
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
R5704:Gtf3c2 UTSW 5 31,316,454 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-01-15