Incidental Mutation 'R4787:Gtf3c2'
ID 367166
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 041975-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.578) question?
Stock # R4787 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 31313350-31337488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31314921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 942 (S942N)
Ref Sequence ENSEMBL: ENSMUSP00000144489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088010] [ENSMUST00000101411] [ENSMUST00000154241] [ENSMUST00000202241] [ENSMUST00000200833] [ENSMUST00000201353] [ENSMUST00000200864] [ENSMUST00000201491] [ENSMUST00000200744] [ENSMUST00000202639]
AlphaFold Q8BL74
Predicted Effect probably benign
Transcript: ENSMUST00000088010
AA Change: S899N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: S899N

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 benign
Transcript: ENSMUST00000101411
SMART Domains Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678

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: S258N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151370
AA Change: S1049N
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 noncoding transcript
Transcript: ENSMUST00000201423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202375
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: 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
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: 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 probably benign
Transcript: ENSMUST00000202639
AA Change: S942N

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: S942N

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 100% (72/72)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C A 8: 73,199,008 (GRCm39) Y138* probably null Het
4933440M02Rik T C 7: 124,930,714 (GRCm39) noncoding transcript Het
Amy2b T C 3: 113,058,634 (GRCm39) noncoding transcript Het
Anxa1 T A 19: 20,351,118 (GRCm39) D334V probably damaging Het
Atoh8 T C 6: 72,200,761 (GRCm39) T310A possibly damaging Het
BC002059 G A 17: 17,193,810 (GRCm39) noncoding transcript Het
Ccdc40 A G 11: 119,144,447 (GRCm39) D924G possibly damaging Het
Ccm2l A T 2: 152,921,422 (GRCm39) M433L probably benign Het
Cd209e T C 8: 3,901,181 (GRCm39) S158G probably null Het
Cdkn2a C T 4: 89,194,955 (GRCm39) R153H unknown Het
Cfap69 A G 5: 5,696,934 (GRCm39) probably null Het
Col6a5 T C 9: 105,808,280 (GRCm39) T923A unknown Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Ddrgk1 A G 2: 130,500,248 (GRCm39) F216S probably damaging Het
Dysf T A 6: 84,180,310 (GRCm39) C1995* probably null Het
Epb41l5 G A 1: 119,523,725 (GRCm39) P467S probably benign Het
Extl1 G A 4: 134,091,978 (GRCm39) L292F probably damaging Het
Fsd1 A G 17: 56,303,257 (GRCm39) N409D possibly damaging Het
Gm15455 A T 1: 33,876,803 (GRCm39) noncoding transcript Het
Gm8894 A G 14: 55,658,172 (GRCm39) noncoding transcript Het
Gvin-ps3 T C 7: 105,681,041 (GRCm39) noncoding transcript Het
H2-Ab1 A T 17: 34,486,441 (GRCm39) T167S possibly damaging Het
Ighv8-9 C T 12: 115,432,134 (GRCm39) R59H probably damaging Het
Igsf9b G A 9: 27,228,752 (GRCm39) V171I probably benign Het
Il31ra C T 13: 112,664,079 (GRCm39) E533K possibly damaging Het
Iqgap1 A C 7: 80,385,261 (GRCm39) L1022R probably damaging Het
Kcna4 T C 2: 107,126,813 (GRCm39) F516L probably damaging Het
Kmt2e A G 5: 23,668,081 (GRCm39) T47A possibly damaging Het
L3mbtl2 A G 15: 81,548,175 (GRCm39) probably benign Het
Ldhb-ps C A 19: 21,915,601 (GRCm39) noncoding transcript Het
Lipo3 T A 19: 33,757,749 (GRCm39) Q240L probably benign Het
Lpar5 A G 6: 125,059,461 (GRCm39) probably null Het
Lrrk2 A G 15: 91,597,031 (GRCm39) D541G probably benign Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Meig1 A G 2: 3,410,251 (GRCm39) V83A possibly damaging Het
Natd1 A C 11: 60,797,822 (GRCm39) C34W probably damaging Het
Nup205 T A 6: 35,178,996 (GRCm39) C689S probably damaging Het
Or4c104 T A 2: 88,586,219 (GRCm39) K267* probably null Het
Or52u1 T C 7: 104,237,167 (GRCm39) M52T probably benign Het
Or5d35 T C 2: 87,855,204 (GRCm39) M46T possibly damaging Het
Or6a2 G A 7: 106,600,293 (GRCm39) A258V probably benign Het
Pdgfrb A C 18: 61,212,759 (GRCm39) S888R probably damaging Het
Plppr4 T C 3: 117,115,979 (GRCm39) E626G probably damaging Het
Ppfia3 C A 7: 44,990,050 (GRCm39) A1159S possibly damaging Het
Pramel32 T A 4: 88,547,450 (GRCm39) K74* probably null Het
Prex1 A G 2: 166,480,260 (GRCm39) V160A probably benign Het
Psmb7 C T 2: 38,478,283 (GRCm39) C247Y probably benign Het
Rbm33 C T 5: 28,547,435 (GRCm39) probably null Het
Rfc5 T C 5: 117,520,485 (GRCm39) T236A probably benign Het
Sdk1 G T 5: 141,568,168 (GRCm39) R122L probably benign Het
Sh3bp1 T C 15: 78,792,195 (GRCm39) S451P possibly damaging Het
Smap1 G T 1: 23,888,347 (GRCm39) probably benign Het
Smc2 T A 4: 52,462,927 (GRCm39) V639E probably damaging Het
Synpo2l T A 14: 20,711,765 (GRCm39) Q511L possibly damaging Het
Taok2 G A 7: 126,467,304 (GRCm39) S167L possibly damaging Het
Tbc1d17 G A 7: 44,492,488 (GRCm39) P392S probably benign Het
Tef T A 15: 81,707,758 (GRCm39) I261N probably damaging Het
Tmbim1 T C 1: 74,334,519 (GRCm39) N14D possibly damaging Het
Tmprss11c T C 5: 86,404,312 (GRCm39) K121R probably benign Het
Trim36 C A 18: 46,305,599 (GRCm39) M461I probably benign Het
Trpc1 T A 9: 95,603,468 (GRCm39) M355L probably benign Het
Tspyl4 A C 10: 34,173,760 (GRCm39) D84A probably benign Het
Twf1 G T 15: 94,482,315 (GRCm39) P144T probably damaging Het
Ugt1a7c T C 1: 88,023,392 (GRCm39) C184R probably damaging Het
Unc79 C T 12: 103,013,257 (GRCm39) P283S probably damaging Het
Usp45 T C 4: 21,796,860 (GRCm39) C49R probably benign Het
Wdr11 T A 7: 129,210,658 (GRCm39) probably benign Het
Wdr27 A T 17: 15,152,816 (GRCm39) M97K 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
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'- GGGAGCTGTGACCATAGAAGTC -3'
(R):5'- AGGTACGCTTCAGCCCAAAC -3'

Sequencing Primer
(F):5'- TCTGTGGAAGGAGAGGGATTTAAG -3'
(R):5'- CAAACCTGGACTCCTATGGATGG -3'
Posted On 2015-12-29