Incidental Mutation 'R7754:Gtf3c2'
ID 597433
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 045810-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.578) question?
Stock # R7754 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 31313350-31337488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31330175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 265 (D265G)
Ref Sequence ENSEMBL: ENSMUSP00000085325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088010] [ENSMUST00000101411] [ENSMUST00000200871] [ENSMUST00000201428] [ENSMUST00000201468] [ENSMUST00000202300] [ENSMUST00000202639]
AlphaFold Q8BL74
Predicted Effect probably benign
Transcript: ENSMUST00000088010
AA Change: D265G

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: D265G

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 possibly damaging
Transcript: ENSMUST00000101411
AA Change: D265G

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
AA Change: D265G

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 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 probably benign
Transcript: ENSMUST00000202300
SMART Domains Protein: ENSMUSP00000144249
Gene: ENSMUSG00000106864

DomainStartEndE-ValueType
low complexity region 99 109 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000202639
AA Change: D308G

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: D308G

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik A T 4: 88,786,496 (GRCm39) W41R unknown Het
Aatf G A 11: 84,402,335 (GRCm39) S117L possibly damaging Het
Abca12 C A 1: 71,342,046 (GRCm39) V972L probably benign Het
Abcb11 T A 2: 69,117,162 (GRCm39) R495S probably damaging Het
Acss2 T A 2: 155,403,086 (GRCm39) H621Q probably benign Het
Akap9 T C 5: 4,096,736 (GRCm39) L2537P probably benign Het
Apbb1 C T 7: 105,208,509 (GRCm39) A597T probably damaging Het
Cacna1d A T 14: 29,797,809 (GRCm39) I1448N probably damaging Het
Cacna1e C T 1: 154,288,863 (GRCm39) E1841K probably damaging Het
Ccdc162 G T 10: 41,463,371 (GRCm39) P1457Q probably damaging Het
Cep70 A G 9: 99,163,145 (GRCm39) K331E probably damaging Het
Cplane1 C A 15: 8,273,310 (GRCm39) Q2534K possibly damaging Het
Cstpp1 A T 2: 91,135,188 (GRCm39) probably null Het
D430041D05Rik A T 2: 104,087,504 (GRCm39) Y491N probably benign Het
Dnah6 T C 6: 73,002,703 (GRCm39) I3898V probably benign Het
Drd2 A G 9: 49,316,277 (GRCm39) T346A probably benign Het
Efcab9 T C 11: 32,472,941 (GRCm39) T169A possibly damaging Het
Fam163a A T 1: 155,955,729 (GRCm39) I21N probably damaging Het
Fam171a2 C T 11: 102,329,389 (GRCm39) D457N probably benign Het
Fbn1 A T 2: 125,321,200 (GRCm39) probably null Het
Gpr37 A T 6: 25,689,049 (GRCm39) L16H probably damaging Het
Idh1 G T 1: 65,198,649 (GRCm39) A407D probably benign Het
Ifna12 A G 4: 88,521,415 (GRCm39) M44T probably damaging Het
Il22ra1 A G 4: 135,461,561 (GRCm39) M109V probably benign Het
Jag2 A T 12: 112,879,089 (GRCm39) probably null Het
Lca5l T C 16: 95,960,761 (GRCm39) D572G unknown Het
Lcn11 G A 2: 25,667,830 (GRCm39) V73I probably benign Het
Lrba A G 3: 86,352,704 (GRCm39) T1951A probably damaging Het
Ltbp2 A G 12: 84,860,012 (GRCm39) probably null Het
Malrd1 G A 2: 15,802,610 (GRCm39) probably null Het
Morc2b C A 17: 33,356,218 (GRCm39) G518V probably benign Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Myo5b A T 18: 74,767,630 (GRCm39) T313S probably benign Het
Neto2 C A 8: 86,396,329 (GRCm39) L140F probably damaging Het
Nlgn1 C T 3: 25,488,467 (GRCm39) V623I probably damaging Het
Optc A G 1: 133,834,730 (GRCm39) S15P possibly damaging Het
Or1e25 C T 11: 73,494,332 (GRCm39) Q309* probably null Het
Or1l4b A G 2: 37,036,858 (GRCm39) I211M possibly damaging Het
Or52e19b C A 7: 103,032,945 (GRCm39) W88L probably damaging Het
Or7c19 T A 8: 85,957,427 (GRCm39) M101K possibly damaging Het
Or9k2 T G 10: 129,998,698 (GRCm39) T166P probably damaging Het
Otogl A G 10: 107,705,407 (GRCm39) V640A probably damaging Het
Pcdhgb2 T C 18: 37,823,023 (GRCm39) S5P probably benign Het
Pde3a A T 6: 141,404,975 (GRCm39) E400V probably benign Het
Pkhd1l1 A G 15: 44,449,804 (GRCm39) I3856V possibly damaging Het
Pld2 G A 11: 70,443,695 (GRCm39) probably null Het
Plxna4 G T 6: 32,129,807 (GRCm39) H1839N probably damaging Het
Ppp6r2 T C 15: 89,140,904 (GRCm39) V89A probably benign Het
Rapgef3 T C 15: 97,655,627 (GRCm39) D420G probably damaging Het
Rnf17 T A 14: 56,699,529 (GRCm39) probably null Het
Rps6ka2 T A 17: 7,544,848 (GRCm39) probably null Het
Rptn A T 3: 93,303,228 (GRCm39) D187V probably damaging Het
Rtn1 T C 12: 72,355,203 (GRCm39) K248E probably damaging Het
Rtn4rl1 A T 11: 75,155,871 (GRCm39) H101L probably benign Het
Septin3 A G 15: 82,174,974 (GRCm39) N305S probably benign Het
Serpina3f G T 12: 104,183,565 (GRCm39) K142N possibly damaging Het
Ssh1 C A 5: 114,104,295 (GRCm39) R116L probably benign Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tlr6 T C 5: 65,111,693 (GRCm39) K405E possibly damaging Het
Trbv13-2 G A 6: 41,098,634 (GRCm39) A70T probably benign Het
Ttn A T 2: 76,618,540 (GRCm39) I16248N probably damaging Het
Ttn A T 2: 76,655,849 (GRCm39) probably null Het
Vldlr A T 19: 27,195,015 (GRCm39) M1L probably benign Het
Wscd1 A G 11: 71,675,191 (GRCm39) H366R probably damaging Het
Zbtb8a A G 4: 129,251,496 (GRCm39) probably null Het
Zfp827 T C 8: 79,916,958 (GRCm39) V511A 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
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
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'- ATACTCCAGAGTGAACAATCTAGAC -3'
(R):5'- TGTCTGGTCCTAAGAGTCCC -3'

Sequencing Primer
(F):5'- GTATAGTGTCTCCAAATACCTTGCAC -3'
(R):5'- TGGTCCTAAGAGTCCCAAGGTG -3'
Posted On 2019-11-26