Incidental Mutation 'R9243:Fancg'
ID 701086
Institutional Source Beutler Lab
Gene Symbol Fancg
Ensembl Gene ENSMUSG00000028453
Gene Name Fanconi anemia, complementation group G
Synonyms Xrcc9
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # R9243 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 43002343-43010506 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43006565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 330 (V330I)
Ref Sequence ENSEMBL: ENSMUSP00000030165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030165]
AlphaFold Q9EQR6
Predicted Effect possibly damaging
Transcript: ENSMUST00000030165
AA Change: V330I

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030165
Gene: ENSMUSG00000028453
AA Change: V330I

DomainStartEndE-ValueType
low complexity region 51 74 N/A INTRINSIC
low complexity region 131 144 N/A INTRINSIC
low complexity region 164 179 N/A INTRINSIC
low complexity region 190 199 N/A INTRINSIC
Pfam:TPR_1 251 280 4.1e-6 PFAM
Pfam:TPR_2 251 281 7.3e-5 PFAM
Pfam:TPR_8 251 281 4.5e-3 PFAM
low complexity region 302 317 N/A INTRINSIC
low complexity region 401 418 N/A INTRINSIC
Blast:TPR 458 491 4e-9 BLAST
Blast:TPR 518 550 2e-12 BLAST
Meta Mutation Damage Score 0.0883 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (51/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008]
PHENOTYPE: Females and males homozygous for targeted null mutations exhibit hypogonadism and reduced fertility. Cytogeneic analysis showed somatic chromosome aberrations occur at a higher spontaneous rate and are easier to induce than in normal cells. Cells are also more sensitive to mitomycin C. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 53,188,035 (GRCm39) S1816R probably benign Het
Appl1 A T 14: 26,649,710 (GRCm39) F605L possibly damaging Het
Cacna1g T A 11: 94,347,893 (GRCm39) I732F possibly damaging Het
Capg T A 6: 72,538,070 (GRCm39) S319T probably benign Het
Cdh17 T A 4: 11,771,333 (GRCm39) F38L probably benign Het
Cep295 T A 9: 15,243,605 (GRCm39) N1617I probably benign Het
Cep57 C T 9: 13,738,204 (GRCm39) probably benign Het
Cfap46 A T 7: 139,195,265 (GRCm39) probably benign Het
Csnk1g2 C A 10: 80,475,648 (GRCm39) A405E probably damaging Het
Dock7 A G 4: 98,857,871 (GRCm39) V1481A unknown Het
Exoc2 T C 13: 31,109,778 (GRCm39) K197E probably benign Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Gad2 A G 2: 22,525,053 (GRCm39) E279G possibly damaging Het
Gria1 A G 11: 57,128,888 (GRCm39) Y454C probably benign Het
Grik3 C T 4: 125,601,690 (GRCm39) R856C probably benign Het
Hdac4 C A 1: 91,900,511 (GRCm39) R622I probably damaging Het
Hdac4 T C 1: 91,900,512 (GRCm39) R622G probably benign Het
Htt T C 5: 35,056,276 (GRCm39) probably benign Het
Idh1 A G 1: 65,207,656 (GRCm39) probably null Het
Igf1r A G 7: 67,861,775 (GRCm39) S1112G probably benign Het
Impg2 A T 16: 56,051,823 (GRCm39) S242C probably damaging Het
Itgb1 T A 8: 129,433,587 (GRCm39) S34T probably benign Het
Kcnh8 A G 17: 53,205,542 (GRCm39) I546V probably damaging Het
Klrd1 T G 6: 129,568,795 (GRCm39) M1R probably null Het
Krtap16-1 A T 11: 99,876,644 (GRCm39) C253* probably null Het
Mapk7 A G 11: 61,384,535 (GRCm39) I57T possibly damaging Het
Msrb2 A G 2: 19,388,073 (GRCm39) N74D probably benign Het
Myd88 A T 9: 119,168,773 (GRCm39) S85T probably benign Het
Myo1c G T 11: 75,541,437 (GRCm39) probably benign Het
Nnt T A 13: 119,494,060 (GRCm39) N674Y unknown Het
Nrcam A G 12: 44,620,607 (GRCm39) Y878C probably damaging Het
Obscn T C 11: 59,023,392 (GRCm39) T662A probably benign Het
Or14j4 T C 17: 37,921,408 (GRCm39) Q78R probably benign Het
Or4l15 A G 14: 50,197,881 (GRCm39) V216A probably benign Het
Or51ah3 A G 7: 103,209,782 (GRCm39) S33G probably benign Het
Or8k40 A G 2: 86,584,282 (GRCm39) S267P possibly damaging Het
Pappa2 C A 1: 158,763,763 (GRCm39) V583L probably damaging Het
Parp1 T G 1: 180,415,680 (GRCm39) S500A probably benign Het
Pcdhb17 A G 18: 37,619,989 (GRCm39) D593G probably damaging Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Prrc1 C G 18: 57,496,271 (GRCm39) S74W possibly damaging Het
Rag2 G A 2: 101,460,419 (GRCm39) G243D probably damaging Het
Sgpp1 T C 12: 75,781,961 (GRCm39) E126G probably damaging Het
Skic2 G A 17: 35,064,198 (GRCm39) T496M probably benign Het
Slc17a1 C A 13: 24,064,432 (GRCm39) F329L probably benign Het
Slc52a3 G A 2: 151,846,512 (GRCm39) V158I probably benign Het
Slf1 T A 13: 77,273,575 (GRCm39) T75S possibly damaging Het
Smok2b G A 17: 13,453,637 (GRCm39) probably null Het
Tmem125 A T 4: 118,399,089 (GRCm39) V114E probably damaging Het
Ube2f A T 1: 91,181,980 (GRCm39) probably benign Het
Zdhhc19 T A 16: 32,315,992 (GRCm39) F30I probably damaging Het
Zfp236 T C 18: 82,662,050 (GRCm39) probably benign Het
Zfp462 C A 4: 55,009,595 (GRCm39) Y520* probably null Het
Zzz3 A G 3: 152,133,920 (GRCm39) D326G probably damaging Het
Other mutations in Fancg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Fancg APN 4 43,003,910 (GRCm39) nonsense probably null
IGL02072:Fancg APN 4 43,007,062 (GRCm39) missense probably benign 0.00
IGL02184:Fancg APN 4 43,006,872 (GRCm39) missense possibly damaging 0.79
IGL02989:Fancg APN 4 43,007,121 (GRCm39) splice site probably benign
R0671:Fancg UTSW 4 43,002,998 (GRCm39) missense probably benign 0.00
R1581:Fancg UTSW 4 43,007,039 (GRCm39) missense probably damaging 1.00
R1853:Fancg UTSW 4 43,009,727 (GRCm39) missense probably benign 0.00
R2046:Fancg UTSW 4 43,004,604 (GRCm39) missense probably damaging 1.00
R2519:Fancg UTSW 4 43,008,787 (GRCm39) missense probably damaging 1.00
R4282:Fancg UTSW 4 43,003,830 (GRCm39) missense probably damaging 1.00
R4397:Fancg UTSW 4 43,008,897 (GRCm39) missense probably benign 0.02
R4583:Fancg UTSW 4 43,002,991 (GRCm39) missense probably benign
R4671:Fancg UTSW 4 43,005,272 (GRCm39) missense probably benign 0.01
R4887:Fancg UTSW 4 43,006,866 (GRCm39) missense probably benign 0.18
R5309:Fancg UTSW 4 43,003,019 (GRCm39) missense probably benign 0.23
R5312:Fancg UTSW 4 43,003,019 (GRCm39) missense probably benign 0.23
R5325:Fancg UTSW 4 43,006,564 (GRCm39) missense probably damaging 0.99
R5379:Fancg UTSW 4 43,002,998 (GRCm39) missense probably benign 0.00
R5386:Fancg UTSW 4 43,007,076 (GRCm39) nonsense probably null
R5649:Fancg UTSW 4 43,008,736 (GRCm39) missense probably damaging 1.00
R5788:Fancg UTSW 4 43,007,130 (GRCm39) intron probably benign
R5802:Fancg UTSW 4 43,006,582 (GRCm39) missense probably benign
R6217:Fancg UTSW 4 43,010,084 (GRCm39) missense probably benign 0.03
R6698:Fancg UTSW 4 43,007,034 (GRCm39) missense probably benign 0.00
R7092:Fancg UTSW 4 43,004,831 (GRCm39) missense probably benign 0.03
R7527:Fancg UTSW 4 43,010,116 (GRCm39) start gained probably benign
R7664:Fancg UTSW 4 43,010,066 (GRCm39) missense probably benign 0.01
R7979:Fancg UTSW 4 43,004,963 (GRCm39) missense probably damaging 1.00
R8129:Fancg UTSW 4 43,005,036 (GRCm39) splice site probably null
R8473:Fancg UTSW 4 43,004,963 (GRCm39) missense probably damaging 1.00
R8885:Fancg UTSW 4 43,007,266 (GRCm39) critical splice donor site probably null
R9166:Fancg UTSW 4 43,006,800 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CCACATGTCCAGTGAAAGCATC -3'
(R):5'- AGGCTTCCAGAGTATATAGGCAAC -3'

Sequencing Primer
(F):5'- CACATGTCCAGTGAAAGCATCAGAAG -3'
(R):5'- GATACAGATGGGTGTGGTTC -3'
Posted On 2022-03-25