Incidental Mutation 'R7994:Gtf3c2'
ID 651922
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 046035-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.578) question?
Stock # R7994 (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 31327217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 327 (I327V)
Ref Sequence ENSEMBL: ENSMUSP00000085325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088010] [ENSMUST00000101411] [ENSMUST00000200871] [ENSMUST00000201428] [ENSMUST00000201468] [ENSMUST00000202300] [ENSMUST00000202639]
AlphaFold Q8BL74
Predicted Effect possibly damaging
Transcript: ENSMUST00000088010
AA Change: I327V

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: I327V

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: I327V

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
AA Change: I327V

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: I370V

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: I370V

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 0.1167 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G C 5: 124,220,090 (GRCm39) F318L probably benign Het
Adad1 T C 3: 37,146,120 (GRCm39) I496T possibly damaging Het
Amotl1 T A 9: 14,504,657 (GRCm39) N184Y probably damaging Het
Asz1 T C 6: 18,054,640 (GRCm39) I388V probably benign Het
Brpf1 C G 6: 113,292,002 (GRCm39) H349Q probably damaging Het
Cebpz T C 17: 79,242,028 (GRCm39) D542G probably damaging Het
Cfap44 T C 16: 44,252,501 (GRCm39) V870A probably damaging Het
Cnga1 T A 5: 72,762,003 (GRCm39) I504F probably damaging Het
Col4a3 G A 1: 82,640,627 (GRCm39) G315D unknown Het
Commd10 A G 18: 47,091,986 (GRCm39) E11G possibly damaging Het
Coq9 A C 8: 95,579,785 (GRCm39) N247H probably benign Het
Cort A T 4: 149,209,762 (GRCm39) C97S probably damaging Het
Dclre1b T C 3: 103,710,702 (GRCm39) D403G probably damaging Het
Efcab8 G A 2: 153,625,724 (GRCm39) G128E Het
Ercc5 T C 1: 44,217,494 (GRCm39) S946P possibly damaging Het
Fam221b C T 4: 43,665,514 (GRCm39) V315M probably damaging Het
Fam3c T C 6: 22,308,459 (GRCm39) K245E probably damaging Het
Gabbr2 C T 4: 46,736,349 (GRCm39) probably null Het
Gadd45g T C 13: 52,001,803 (GRCm39) S123P possibly damaging Het
Gm49368 A G 7: 127,684,818 (GRCm39) D396G possibly damaging Het
Gsto1 G A 19: 47,847,899 (GRCm39) R132K probably benign Het
Hipk2 T C 6: 38,795,403 (GRCm39) K289E possibly damaging Het
Igkv4-80 G T 6: 68,993,621 (GRCm39) T90N probably benign Het
Ilrun C A 17: 27,986,917 (GRCm39) A270S probably benign Het
Madcam1 A T 10: 79,504,069 (GRCm39) probably null Het
Mgat1 T C 11: 49,152,770 (GRCm39) Y418H probably damaging Het
Myh10 T C 11: 68,681,070 (GRCm39) probably null Het
Notch4 C A 17: 34,797,064 (GRCm39) H937Q possibly damaging Het
Npas2 G T 1: 39,367,418 (GRCm39) C313F possibly damaging Het
Nup93 A G 8: 95,032,930 (GRCm39) M565V probably benign Het
Or10al3 C T 17: 38,012,326 (GRCm39) T255I probably damaging Het
Or1x6 T G 11: 50,938,967 (GRCm39) V11G probably benign Het
Or52a5 T A 7: 103,426,607 (GRCm39) H315L probably benign Het
Or56b2j T A 7: 104,353,635 (GRCm39) V287D probably damaging Het
Or6k4 G T 1: 173,964,273 (GRCm39) probably benign Het
Otop1 C T 5: 38,457,195 (GRCm39) T318I probably benign Het
Pcdhgb6 A G 18: 37,875,724 (GRCm39) E144G probably damaging Het
Plekha8 T C 6: 54,592,230 (GRCm39) L18P probably damaging Het
Ppp1r13b T C 12: 111,798,776 (GRCm39) D939G probably damaging Het
Prkag3 T A 1: 74,786,414 (GRCm39) Q177L probably benign Het
Rcor3 C A 1: 191,785,945 (GRCm39) S431I probably damaging Het
Scrib G A 15: 75,936,431 (GRCm39) T475I probably damaging Het
Serpinb1a T A 13: 33,027,033 (GRCm39) D303V probably damaging Het
Snrnp25 T A 11: 32,157,569 (GRCm39) V49E probably benign Het
Sobp A T 10: 42,897,163 (GRCm39) Y807* probably null Het
Spata31e4 T A 13: 50,856,900 (GRCm39) V846D probably benign Het
Srcap T C 7: 127,140,930 (GRCm39) V1570A probably benign Het
Srcin1 C T 11: 97,422,742 (GRCm39) V731M probably damaging Het
Syt2 A T 1: 134,675,330 (GRCm39) M394L possibly damaging Het
Tafa4 C T 6: 96,840,847 (GRCm39) E49K probably damaging Het
Tert T A 13: 73,797,074 (GRCm39) I1104N probably benign Het
Ttn T C 2: 76,621,439 (GRCm39) Y15667C probably damaging Het
Twnk A G 19: 44,996,277 (GRCm39) T237A probably benign Het
Zfp157 T A 5: 138,453,450 (GRCm39) probably null Het
Zfp503 C A 14: 22,035,074 (GRCm39) S614I probably damaging Het
Zswim8 T A 14: 20,758,072 (GRCm39) N52K possibly 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
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
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
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'- GTCTCTGCATATGTGAGCAATTTC -3'
(R):5'- TTCAAGTGCTGGTAGCTGC -3'

Sequencing Primer
(F):5'- TCACCTTAAATGTGGGCAGTACCG -3'
(R):5'- GGTAGCTGCTGTACCCCTAAAC -3'
Posted On 2020-09-15