Incidental Mutation 'IGL02184:Fancg'
ID284261
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fancg
Ensembl Gene ENSMUSG00000028453
Gene NameFanconi anemia, complementation group G
SynonymsXrcc9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.248) question?
Stock #IGL02184
Quality Score
Status
Chromosome4
Chromosomal Location43002343-43010506 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43006872 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 273 (Y273H)
Ref Sequence ENSEMBL: ENSMUSP00000030165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030165]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030165
AA Change: Y273H

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030165
Gene: ENSMUSG00000028453
AA Change: Y273H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125570
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148018
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T G 13: 63,068,111 I399S possibly damaging Het
Adam15 C T 3: 89,345,934 probably benign Het
Antxr2 A C 5: 97,977,595 probably null Het
Atp8b3 A C 10: 80,527,233 probably benign Het
Brwd1 A T 16: 96,013,829 M1417K probably damaging Het
Camk2d A T 3: 126,797,773 R297S probably damaging Het
Cntnap1 A T 11: 101,178,365 H215L probably damaging Het
Cytip T C 2: 58,133,738 S357G probably damaging Het
Fbxo36 A G 1: 84,881,164 S57G probably benign Het
Fgf8 A T 19: 45,737,216 L141Q probably damaging Het
Gm5039 T C 12: 88,321,181 R101G probably benign Het
Gm765 T C 6: 98,248,098 S75G possibly damaging Het
Grm5 C T 7: 88,026,442 T388M probably damaging Het
Hipk1 A G 3: 103,758,750 L589P possibly damaging Het
Kiz T C 2: 146,889,600 S337P probably benign Het
Lrrc37a A T 11: 103,497,609 I2330K unknown Het
Mdfic T A 6: 15,770,367 I124K possibly damaging Het
Mttp A G 3: 138,116,000 probably null Het
Myom1 G A 17: 71,072,137 S632N possibly damaging Het
Nlrp12 T C 7: 3,240,464 K473E probably damaging Het
Nrp2 C A 1: 62,718,940 C28* probably null Het
Nwd2 G T 5: 63,805,677 G868V probably damaging Het
Olfr1134 A G 2: 87,656,792 L43P probably damaging Het
Olfr1246 G A 2: 89,590,293 T274I probably damaging Het
Olfr48 G A 2: 89,844,385 A196V probably damaging Het
Pappa A T 4: 65,340,691 M1559L possibly damaging Het
Pmm2 T A 16: 8,637,804 D10E possibly damaging Het
Polm T C 11: 5,830,137 Q300R probably benign Het
Prrc2b T A 2: 32,221,455 N1208K probably benign Het
Serpinb3c T C 1: 107,271,918 D291G probably damaging Het
Slc1a2 T C 2: 102,748,544 F268S probably damaging Het
Slc26a4 A G 12: 31,549,949 Y127H probably damaging Het
Slc29a4 A G 5: 142,717,751 Y260C probably damaging Het
Sorbs3 C T 14: 70,184,006 probably null Het
Spen T C 4: 141,487,606 Y534C unknown Het
Tmem237 T C 1: 59,120,111 probably null Het
Tnfrsf21 A T 17: 43,085,463 N546I probably benign Het
Tpgs2 T A 18: 25,140,573 D177V probably damaging Het
Tpx2 C T 2: 152,882,320 R339* probably null Het
Trim12c T C 7: 104,348,223 Y42C probably benign Het
Trip10 A T 17: 57,257,272 E341V probably damaging Het
Trpm8 A T 1: 88,330,694 probably null Het
Ttc37 A G 13: 76,111,691 K37E probably damaging Het
Ubr1 T A 2: 120,900,508 I1221F probably benign Het
Ucp2 C T 7: 100,499,322 A301V probably benign Het
Zfyve1 T C 12: 83,558,693 I411V probably benign Het
Other mutations in Fancg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Fancg APN 4 43003910 nonsense probably null
IGL02072:Fancg APN 4 43007062 missense probably benign 0.00
IGL02989:Fancg APN 4 43007121 splice site probably benign
R0671:Fancg UTSW 4 43002998 missense probably benign 0.00
R1581:Fancg UTSW 4 43007039 missense probably damaging 1.00
R1853:Fancg UTSW 4 43009727 missense probably benign 0.00
R2046:Fancg UTSW 4 43004604 missense probably damaging 1.00
R2519:Fancg UTSW 4 43008787 missense probably damaging 1.00
R4282:Fancg UTSW 4 43003830 missense probably damaging 1.00
R4397:Fancg UTSW 4 43008897 missense probably benign 0.02
R4583:Fancg UTSW 4 43002991 missense probably benign
R4671:Fancg UTSW 4 43005272 missense probably benign 0.01
R4887:Fancg UTSW 4 43006866 missense probably benign 0.18
R5309:Fancg UTSW 4 43003019 missense probably benign 0.23
R5312:Fancg UTSW 4 43003019 missense probably benign 0.23
R5325:Fancg UTSW 4 43006564 missense probably damaging 0.99
R5379:Fancg UTSW 4 43002998 missense probably benign 0.00
R5386:Fancg UTSW 4 43007076 nonsense probably null
R5649:Fancg UTSW 4 43008736 missense probably damaging 1.00
R5788:Fancg UTSW 4 43007130 intron probably benign
R5802:Fancg UTSW 4 43006582 missense probably benign
R6217:Fancg UTSW 4 43010084 missense probably benign 0.03
R6698:Fancg UTSW 4 43007034 missense probably benign 0.00
R7092:Fancg UTSW 4 43004831 missense probably benign 0.03
R7527:Fancg UTSW 4 43010116 start gained probably benign
Posted On2015-04-16