Incidental Mutation 'R3792:Gcfc2'
ID 272585
Institutional Source Beutler Lab
Gene Symbol Gcfc2
Ensembl Gene ENSMUSG00000035125
Gene Name GC-rich sequence DNA binding factor 2
Synonyms AW146020
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.484) question?
Stock # R3792 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 81900650-81936896 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 81907748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 154 (C154F)
Ref Sequence ENSEMBL: ENSMUSP00000138136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043195] [ENSMUST00000152996]
AlphaFold Q8BKT3
Predicted Effect probably benign
Transcript: ENSMUST00000043195
AA Change: C154F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035644
Gene: ENSMUSG00000035125
AA Change: C154F

DomainStartEndE-ValueType
low complexity region 16 24 N/A INTRINSIC
low complexity region 43 66 N/A INTRINSIC
low complexity region 97 111 N/A INTRINSIC
low complexity region 164 175 N/A INTRINSIC
low complexity region 193 210 N/A INTRINSIC
coiled coil region 255 308 N/A INTRINSIC
low complexity region 392 406 N/A INTRINSIC
Pfam:GCFC 456 672 3e-34 PFAM
low complexity region 753 763 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147673
Predicted Effect probably benign
Transcript: ENSMUST00000152996
AA Change: C154F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138136
Gene: ENSMUSG00000035125
AA Change: C154F

DomainStartEndE-ValueType
low complexity region 16 24 N/A INTRINSIC
low complexity region 43 66 N/A INTRINSIC
low complexity region 97 111 N/A INTRINSIC
low complexity region 164 175 N/A INTRINSIC
low complexity region 193 210 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204691
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A G X: 80,464,423 (GRCm39) V428A probably benign Het
Aanat T C 11: 116,487,057 (GRCm39) L88P probably damaging Het
Arhgap5 A T 12: 52,566,671 (GRCm39) N1214I probably benign Het
BC034090 A T 1: 155,117,543 (GRCm39) S192T probably damaging Het
Bco1 G A 8: 117,857,415 (GRCm39) V461I possibly damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cripto C T 9: 110,772,258 (GRCm39) R46Q probably benign Het
Cubn G A 2: 13,432,725 (GRCm39) R1199C probably damaging Het
Dcaf12l1 T C X: 43,877,313 (GRCm39) N495S possibly damaging Het
Dop1b C A 16: 93,568,734 (GRCm39) Q1599K possibly damaging Het
Dyrk1a C A 16: 94,485,933 (GRCm39) L427I probably benign Het
Esp16 T C 17: 39,848,739 (GRCm39) I11T possibly damaging Het
Esyt3 A T 9: 99,197,334 (GRCm39) F832Y possibly damaging Het
F8 A T X: 74,328,971 (GRCm39) probably null Het
Fam135a T C 1: 24,067,392 (GRCm39) Y259C probably benign Het
Fbxo38 T C 18: 62,666,533 (GRCm39) probably null Het
Fbxo43 T C 15: 36,163,005 (GRCm39) I67M probably benign Het
Hipk2 C T 6: 38,675,491 (GRCm39) R1029H probably damaging Het
Ilk G A 7: 105,391,294 (GRCm39) W73* probably null Het
Ism1 T C 2: 139,582,173 (GRCm39) S162P probably damaging Het
Itpkb T A 1: 180,160,738 (GRCm39) L288Q possibly damaging Het
Itpr2 C A 6: 146,316,852 (GRCm39) K306N probably damaging Het
Kdm2a C T 19: 4,374,540 (GRCm39) E864K possibly damaging Het
Kdm4b G A 17: 56,662,944 (GRCm39) V172M probably damaging Het
Kyat3 A T 3: 142,443,605 (GRCm39) K406M probably null Het
Lipe T A 7: 25,097,045 (GRCm39) K299N possibly damaging Het
Lrrc2 T A 9: 110,795,585 (GRCm39) C123* probably null Het
Mptx2 T A 1: 173,102,240 (GRCm39) I150F probably damaging Het
Mroh2b G T 15: 4,953,102 (GRCm39) W612L probably damaging Het
Mucl2 T C 15: 103,928,692 (GRCm39) T27A possibly damaging Het
Nfx1 T A 4: 41,004,357 (GRCm39) C709* probably null Het
Oprm1 T C 10: 6,789,544 (GRCm39) S390P probably benign Het
Or2m12 A G 16: 19,104,696 (GRCm39) S266P possibly damaging Het
Or51v8 A T 7: 103,319,353 (GRCm39) I295N probably damaging Het
Pcdhb14 T C 18: 37,582,715 (GRCm39) L607P probably damaging Het
Rap1gds1 A T 3: 138,671,721 (GRCm39) I133N probably damaging Het
Rasl10a T C 11: 5,009,461 (GRCm39) L83S probably damaging Het
Satb2 C T 1: 56,884,779 (GRCm39) V382M probably damaging Het
Sh3gl1 T C 17: 56,325,949 (GRCm39) K160R probably damaging Het
Sirt4 T C 5: 115,618,351 (GRCm39) D241G probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Spef2 A G 15: 9,704,622 (GRCm39) I454T probably damaging Het
Stag3 A G 5: 138,296,611 (GRCm39) K490E probably benign Het
Tcstv7b G T 13: 120,702,467 (GRCm39) V88F probably damaging Het
Tctn3 T C 19: 40,600,155 (GRCm39) K95R probably benign Het
Trp53bp1 T C 2: 121,030,810 (GRCm39) I1784V probably damaging Het
Ttc21a A T 9: 119,783,231 (GRCm39) E511V probably damaging Het
Ttn A G 2: 76,542,232 (GRCm39) F25258L probably damaging Het
Ttn A C 2: 76,639,290 (GRCm39) C13828G probably damaging Het
Vmn1r210 T A 13: 23,011,573 (GRCm39) M238L probably damaging Het
Vmn1r38 A G 6: 66,753,891 (GRCm39) I75T probably benign Het
Vmn2r84 T A 10: 130,221,669 (GRCm39) *850C probably null Het
Vwa7 T C 17: 35,244,135 (GRCm39) probably null Het
Zfp128 T A 7: 12,618,659 (GRCm39) D52E probably damaging Het
Zfp618 T C 4: 63,033,728 (GRCm39) probably benign Het
Zkscan2 T A 7: 123,084,225 (GRCm39) E633V possibly damaging Het
Other mutations in Gcfc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Gcfc2 APN 6 81,912,996 (GRCm39) missense probably damaging 0.99
IGL00473:Gcfc2 APN 6 81,921,355 (GRCm39) missense probably damaging 1.00
IGL00497:Gcfc2 APN 6 81,934,951 (GRCm39) missense probably benign 0.08
IGL02135:Gcfc2 APN 6 81,918,381 (GRCm39) missense probably damaging 1.00
R0138:Gcfc2 UTSW 6 81,926,935 (GRCm39) missense probably damaging 1.00
R0208:Gcfc2 UTSW 6 81,920,444 (GRCm39) missense probably null 0.91
R0467:Gcfc2 UTSW 6 81,900,863 (GRCm39) missense possibly damaging 0.56
R1105:Gcfc2 UTSW 6 81,916,434 (GRCm39) missense probably damaging 1.00
R1521:Gcfc2 UTSW 6 81,900,793 (GRCm39) missense probably benign 0.14
R1602:Gcfc2 UTSW 6 81,921,401 (GRCm39) missense probably damaging 1.00
R1846:Gcfc2 UTSW 6 81,933,873 (GRCm39) missense probably damaging 0.99
R2091:Gcfc2 UTSW 6 81,920,460 (GRCm39) missense probably damaging 1.00
R2110:Gcfc2 UTSW 6 81,900,759 (GRCm39) missense probably benign 0.01
R2111:Gcfc2 UTSW 6 81,900,759 (GRCm39) missense probably benign 0.01
R2112:Gcfc2 UTSW 6 81,900,759 (GRCm39) missense probably benign 0.01
R2892:Gcfc2 UTSW 6 81,933,894 (GRCm39) missense possibly damaging 0.87
R4284:Gcfc2 UTSW 6 81,918,372 (GRCm39) missense probably damaging 1.00
R4304:Gcfc2 UTSW 6 81,919,988 (GRCm39) missense probably damaging 1.00
R4691:Gcfc2 UTSW 6 81,918,408 (GRCm39) nonsense probably null
R5046:Gcfc2 UTSW 6 81,925,316 (GRCm39) missense probably benign 0.12
R5233:Gcfc2 UTSW 6 81,930,271 (GRCm39) missense probably damaging 1.00
R5307:Gcfc2 UTSW 6 81,921,367 (GRCm39) missense probably damaging 0.97
R5308:Gcfc2 UTSW 6 81,920,524 (GRCm39) critical splice donor site probably null
R5929:Gcfc2 UTSW 6 81,923,580 (GRCm39) missense probably damaging 1.00
R6339:Gcfc2 UTSW 6 81,923,477 (GRCm39) missense probably damaging 1.00
R6485:Gcfc2 UTSW 6 81,916,528 (GRCm39) missense probably damaging 1.00
R6931:Gcfc2 UTSW 6 81,919,966 (GRCm39) missense probably benign 0.36
R6948:Gcfc2 UTSW 6 81,910,734 (GRCm39) missense probably benign 0.01
R7392:Gcfc2 UTSW 6 81,919,993 (GRCm39) critical splice donor site probably null
R7423:Gcfc2 UTSW 6 81,923,541 (GRCm39) missense probably damaging 1.00
R7509:Gcfc2 UTSW 6 81,930,256 (GRCm39) missense probably damaging 1.00
R7713:Gcfc2 UTSW 6 81,918,371 (GRCm39) missense probably damaging 1.00
R8089:Gcfc2 UTSW 6 81,902,771 (GRCm39) missense probably damaging 1.00
R8249:Gcfc2 UTSW 6 81,933,932 (GRCm39) missense probably benign 0.02
R8366:Gcfc2 UTSW 6 81,900,782 (GRCm39) missense probably benign 0.05
R8553:Gcfc2 UTSW 6 81,912,944 (GRCm39) missense probably benign 0.01
R8560:Gcfc2 UTSW 6 81,900,863 (GRCm39) missense possibly damaging 0.56
R8779:Gcfc2 UTSW 6 81,925,298 (GRCm39) missense probably benign 0.00
R8915:Gcfc2 UTSW 6 81,918,347 (GRCm39) missense probably benign 0.36
R8924:Gcfc2 UTSW 6 81,909,879 (GRCm39) missense probably damaging 1.00
R9687:Gcfc2 UTSW 6 81,918,323 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGGTGACGTTTAGGAGCACG -3'
(R):5'- AAGAGCAAGTCCACTCCTGC -3'

Sequencing Primer
(F):5'- TAGGAGCACGGTGCCTTG -3'
(R):5'- TCCTGCAGTGAAAACGTCATG -3'
Posted On 2015-03-25