Incidental Mutation 'R0634:Gtf3c2'
ID 58133
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 038823-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.578) question?
Stock # R0634 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 31313350-31337488 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 31317150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 684 (R684*)
Ref Sequence ENSEMBL: ENSMUSP00000144489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088010] [ENSMUST00000101411] [ENSMUST00000202639]
AlphaFold Q8BL74
Predicted Effect probably null
Transcript: ENSMUST00000043161
AA Change: R684*
SMART Domains Protein: ENSMUSP00000047210
Gene: ENSMUSG00000029144
AA Change: R684*

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 null
Transcript: ENSMUST00000088010
AA Change: R641*
SMART Domains Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: R641*

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 null
Transcript: ENSMUST00000101411
AA Change: R641*
SMART Domains Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
AA Change: R641*

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 noncoding transcript
Transcript: ENSMUST00000201087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201423
Predicted Effect probably null
Transcript: ENSMUST00000202639
AA Change: R684*
SMART Domains Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: R684*

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: ENSMUST00000202254
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.2%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,264,491 (GRCm39) I2958V possibly damaging Het
Adam21 C A 12: 81,607,126 (GRCm39) W212L probably benign Het
Adcy2 A C 13: 68,876,064 (GRCm39) H479Q possibly damaging Het
Adcy4 T C 14: 56,019,054 (GRCm39) R168G probably benign Het
Adrm1b C T 3: 92,336,116 (GRCm39) W125* probably null Het
Atp13a2 T C 4: 140,734,240 (GRCm39) probably benign Het
C1ra G A 6: 124,494,464 (GRCm39) E304K possibly damaging Het
Cc2d2a A C 5: 43,838,723 (GRCm39) probably benign Het
Cenpe T C 3: 134,952,588 (GRCm39) L1426P probably damaging Het
Cntn1 A T 15: 92,212,444 (GRCm39) R869* probably null Het
Creb3l2 A T 6: 37,311,283 (GRCm39) probably benign Het
Crybg2 G A 4: 133,802,615 (GRCm39) probably benign Het
Csmd1 A T 8: 16,276,405 (GRCm39) F800I probably damaging Het
Dock6 G A 9: 21,752,823 (GRCm39) T330I probably damaging Het
Ets2 G A 16: 95,517,200 (GRCm39) E311K possibly damaging Het
Fbxo22 A T 9: 55,122,244 (GRCm39) Q141L probably benign Het
Fer C T 17: 64,342,503 (GRCm39) T223M probably benign Het
Gtf3c1 A T 7: 125,256,649 (GRCm39) probably benign Het
Hs6st3 T A 14: 120,106,474 (GRCm39) L294* probably null Het
Ighg2c T G 12: 113,251,584 (GRCm39) E181A unknown Het
Igkv6-15 A T 6: 70,383,763 (GRCm39) probably benign Het
Irag2 A T 6: 145,120,354 (GRCm39) H523L probably damaging Het
Map2k6 C T 11: 110,385,169 (GRCm39) R178* probably null Het
Meikin T A 11: 54,281,309 (GRCm39) D126E probably benign Het
Mgst1 A T 6: 138,133,329 (GRCm39) T37S probably damaging Het
Mrc2 G A 11: 105,238,518 (GRCm39) V1222M probably benign Het
Myom2 C A 8: 15,169,216 (GRCm39) probably benign Het
Negr1 A G 3: 156,721,903 (GRCm39) K159R possibly damaging Het
Nptx1 T C 11: 119,434,127 (GRCm39) T320A possibly damaging Het
Or12j3 A T 7: 139,953,310 (GRCm39) V71E possibly damaging Het
Or4p21 A T 2: 88,276,961 (GRCm39) M107K probably benign Het
Or5p66 T C 7: 107,885,503 (GRCm39) I277V probably benign Het
Pes1 C T 11: 3,927,794 (GRCm39) probably benign Het
Pes1 T G 11: 3,927,795 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,187,698 (GRCm39) Y3537N probably damaging Het
Poteg G A 8: 27,963,615 (GRCm39) G289R probably benign Het
Pramel29 A G 4: 143,935,910 (GRCm39) probably null Het
Rassf5 T C 1: 131,172,693 (GRCm39) R59G probably damaging Het
Reln A T 5: 22,223,867 (GRCm39) W961R probably damaging Het
Rhot2 G A 17: 26,061,002 (GRCm39) H168Y possibly damaging Het
Ripk3 G T 14: 56,025,848 (GRCm39) probably benign Het
Samm50 A G 15: 84,098,372 (GRCm39) silent Het
Sap30bp T C 11: 115,848,229 (GRCm39) I117T probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Sipa1l2 A T 8: 126,149,363 (GRCm39) L1632* probably null Het
Sirt7 T C 11: 120,512,955 (GRCm39) probably benign Het
Smg8 T C 11: 86,976,934 (GRCm39) T216A possibly damaging Het
Sox9 A G 11: 112,675,768 (GRCm39) Y319C probably damaging Het
Sspn G A 6: 145,906,877 (GRCm39) A27T possibly damaging Het
Suco A G 1: 161,666,373 (GRCm39) V509A possibly damaging Het
Svep1 C T 4: 58,070,661 (GRCm39) C2375Y possibly damaging Het
Trbv21 T A 6: 41,179,984 (GRCm39) probably benign Het
Uimc1 C T 13: 55,208,079 (GRCm39) E455K possibly damaging Het
Upk3b A G 5: 136,068,930 (GRCm39) T100A possibly damaging Het
Usp47 A G 7: 111,707,862 (GRCm39) N1303D probably damaging Het
Vav1 A T 17: 57,610,862 (GRCm39) D476V probably benign Het
Vmn1r68 A G 7: 10,261,162 (GRCm39) V312A probably benign Het
Wdr62 A G 7: 29,969,599 (GRCm39) V287A probably damaging Het
Zcchc4 C T 5: 52,940,550 (GRCm39) P40S probably benign Het
Zfp326 T A 5: 106,034,069 (GRCm39) Y26* probably null Het
Zfp592 A G 7: 80,687,819 (GRCm39) H915R probably damaging 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
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
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'- TTCCACAGAGCCCGTAACTGAAAAG -3'
(R):5'- ATGACCAGGCTGTCCGTACAATTC -3'

Sequencing Primer
(F):5'- TTCTTCCAAAATTCAGATACCTCAGC -3'
(R):5'- CAATTCAGTGGTGCAAAGCTAAC -3'
Posted On 2013-07-11