Incidental Mutation 'R1846:Gcfc2'
ID 207724
Institutional Source Beutler Lab
Gene Symbol Gcfc2
Ensembl Gene ENSMUSG00000035125
Gene Name GC-rich sequence DNA binding factor 2
Synonyms AW146020
MMRRC Submission 039871-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.484) question?
Stock # R1846 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 81900650-81936896 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81933873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 710 (Q710L)
Ref Sequence ENSEMBL: ENSMUSP00000035644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032124] [ENSMUST00000043195] [ENSMUST00000152996]
AlphaFold Q8BKT3
Predicted Effect probably benign
Transcript: ENSMUST00000032124
SMART Domains Protein: ENSMUSP00000032124
Gene: ENSMUSG00000030045

DomainStartEndE-ValueType
low complexity region 60 74 N/A INTRINSIC
Pfam:Ribosomal_L19 92 198 9e-19 PFAM
SCOP:d1fura_ 214 282 2e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000043195
AA Change: Q710L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035644
Gene: ENSMUSG00000035125
AA Change: Q710L

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: ENSMUST00000129678
Predicted Effect probably benign
Transcript: ENSMUST00000152996
SMART Domains Protein: ENSMUSP00000138136
Gene: ENSMUSG00000035125

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 probably benign
Transcript: ENSMUST00000203959
Meta Mutation Damage Score 0.6943 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
Validation Efficiency 99% (75/76)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik G A 7: 12,246,809 (GRCm39) R63Q probably benign Het
Adamts20 A T 15: 94,243,871 (GRCm39) C619S probably damaging Het
Alx1 T C 10: 102,861,165 (GRCm39) D121G possibly damaging Het
Anks3 A C 16: 4,771,748 (GRCm39) M215R probably benign Het
Anxa4 T A 6: 86,718,893 (GRCm39) probably null Het
Arhgef25 A G 10: 127,021,733 (GRCm39) V222A probably damaging Het
Bglap2 A G 3: 88,285,932 (GRCm39) probably benign Het
Cars2 A G 8: 11,564,674 (GRCm39) V22A probably benign Het
Ccdc198 G T 14: 49,473,420 (GRCm39) L102I probably damaging Het
Cenpe T A 3: 134,945,606 (GRCm39) I1040N probably damaging Het
Cep170 C T 1: 176,583,335 (GRCm39) D1015N probably damaging Het
Chia1 T A 3: 106,038,181 (GRCm39) I359N probably damaging Het
Crot A T 5: 9,038,248 (GRCm39) V93E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnmbp T C 19: 43,891,186 (GRCm39) I194V probably damaging Het
Dock4 T A 12: 40,783,267 (GRCm39) C734S probably benign Het
Eif4e3 T C 6: 99,617,662 (GRCm39) S70G probably benign Het
Entpd3 G A 9: 120,387,441 (GRCm39) D213N probably benign Het
Ern2 T G 7: 121,775,759 (GRCm39) Y445S probably benign Het
Fasn A G 11: 120,704,133 (GRCm39) S1429P probably benign Het
Fat4 A G 3: 39,036,532 (GRCm39) I3395V probably benign Het
Fbln2 C A 6: 91,233,399 (GRCm39) Q628K possibly damaging Het
Fbxo28 T C 1: 182,153,845 (GRCm39) N164D probably benign Het
Fez1 T C 9: 36,779,063 (GRCm39) S247P probably damaging Het
Gars1 A G 6: 55,040,153 (GRCm39) D360G probably benign Het
Ggt5 A G 10: 75,446,376 (GRCm39) probably null Het
Glp1r A G 17: 31,148,909 (GRCm39) probably null Het
Hspa14 T C 2: 3,492,697 (GRCm39) D356G possibly damaging Het
Htt T A 5: 35,006,288 (GRCm39) I1399N probably damaging Het
Kmt2e G A 5: 23,704,484 (GRCm39) probably benign Het
Krt36 C A 11: 99,996,374 (GRCm39) G17C probably damaging Het
Lama2 T C 10: 27,088,092 (GRCm39) E895G probably damaging Het
Lamb2 G A 9: 108,364,586 (GRCm39) R1142H probably benign Het
Lhcgr C T 17: 89,072,575 (GRCm39) probably null Het
Lpin2 A G 17: 71,532,064 (GRCm39) T140A probably benign Het
Metap1 A G 3: 138,186,443 (GRCm39) probably benign Het
Mpeg1 T C 19: 12,440,486 (GRCm39) V648A probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Muc4 T A 16: 32,752,369 (GRCm38) I749N probably benign Het
N4bp2 T C 5: 65,965,862 (GRCm39) F1304L probably damaging Het
Nup85 A G 11: 115,459,239 (GRCm39) E114G probably benign Het
Or2a5 A G 6: 42,874,254 (GRCm39) S290G probably damaging Het
Or4c10 A G 2: 89,761,010 (GRCm39) T286A possibly damaging Het
Or6b2b A T 1: 92,418,822 (GRCm39) Y218* probably null Het
Pafah2 GCCCC GCCCCC 4: 134,152,852 (GRCm39) probably null Het
Parp2 T A 14: 51,052,843 (GRCm39) C145* probably null Het
Plpp6 T C 19: 28,941,680 (GRCm39) S94P probably benign Het
Polr1a T C 6: 71,953,172 (GRCm39) I1580T probably damaging Het
Polrmt A T 10: 79,574,043 (GRCm39) V860E probably damaging Het
Ppp1r17 A G 6: 55,999,412 (GRCm39) E15G possibly damaging Het
Prl7b1 A T 13: 27,786,831 (GRCm39) W133R probably damaging Het
Ptk7 A G 17: 46,887,416 (GRCm39) probably null Het
Rad23b C T 4: 55,383,637 (GRCm39) Q290* probably null Het
Rorb C T 19: 18,932,445 (GRCm39) E369K probably damaging Het
Rusc1 T C 3: 88,999,452 (GRCm39) D110G probably damaging Het
Smg7 A G 1: 152,724,601 (GRCm39) S527P probably damaging Het
Ssbp2 C T 13: 91,812,268 (GRCm39) P105L probably damaging Het
Stt3a C T 9: 36,674,681 (GRCm39) R34H probably damaging Het
Sufu T A 19: 46,439,386 (GRCm39) I202N possibly damaging Het
Thsd7b G A 1: 129,540,993 (GRCm39) R289Q probably damaging Het
Tph1 A T 7: 46,309,863 (GRCm39) S130T probably damaging Het
Ttn A G 2: 76,776,030 (GRCm39) S1671P probably damaging Het
Usp4 A G 9: 108,249,935 (GRCm39) I441V probably benign Het
Vmn1r8 A G 6: 57,013,413 (GRCm39) N155D probably benign Het
Vmn2r115 A C 17: 23,578,357 (GRCm39) K610T probably damaging Het
Vmn2r62 G A 7: 42,438,546 (GRCm39) P97S probably damaging Het
Zbtb40 T C 4: 136,735,150 (GRCm39) D297G probably benign Het
Zfp174 C A 16: 3,672,599 (GRCm39) Q383K probably benign Het
Zfp318 T A 17: 46,724,592 (GRCm39) D2198E probably benign Het
Zfp628 C T 7: 4,923,866 (GRCm39) P696L possibly damaging Het
Zgrf1 T A 3: 127,409,112 (GRCm39) N1695K probably 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
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
R3792:Gcfc2 UTSW 6 81,907,748 (GRCm39) missense probably benign 0.00
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'- GCCATGAAGAATGACTCTAATCAAGTC -3'
(R):5'- AGTGGTCACTATGCTGGCAG -3'

Sequencing Primer
(F):5'- ATTGCTGGTAACCACTGAGC -3'
(R):5'- TTTAGATTGAACCCAGGGCC -3'
Posted On 2014-06-23