Incidental Mutation 'R4282:Fancg'
ID 322934
Institutional Source Beutler Lab
Gene Symbol Fancg
Ensembl Gene ENSMUSG00000028453
Gene Name Fanconi anemia, complementation group G
Synonyms Xrcc9
MMRRC Submission 041650-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # R4282 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 43002343-43010506 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43003830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 533 (D533G)
Ref Sequence ENSEMBL: ENSMUSP00000030165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030164] [ENSMUST00000030165]
AlphaFold Q9EQR6
Predicted Effect probably benign
Transcript: ENSMUST00000030164
SMART Domains Protein: ENSMUSP00000030164
Gene: ENSMUSG00000028452

DomainStartEndE-ValueType
CDC48_N 25 108 6.85e-27 SMART
CDC48_2 125 191 3.77e-15 SMART
AAA 237 373 7.87e-24 SMART
AAA 510 649 2e-25 SMART
Pfam:Vps4_C 710 762 3.5e-7 PFAM
low complexity region 775 794 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000030165
AA Change: D533G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030165
Gene: ENSMUSG00000028453
AA Change: D533G

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: ENSMUST00000148018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134083
Meta Mutation Damage Score 0.1037 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (59/61)
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
1700092K14Rik A C 11: 114,089,970 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,518,034 (GRCm39) D758E possibly damaging Het
Adam28 A G 14: 68,885,155 (GRCm39) V65A possibly damaging Het
Adgra2 T A 8: 27,609,272 (GRCm39) M616K possibly damaging Het
Aldh3b2 A G 19: 4,027,636 (GRCm39) D59G probably benign Het
Ankrd28 A G 14: 31,467,182 (GRCm39) V260A possibly damaging Het
Bbs7 A G 3: 36,627,720 (GRCm39) V689A probably damaging Het
Cacna1e A G 1: 154,302,296 (GRCm39) F1653S probably benign Het
Cd55b T C 1: 130,344,596 (GRCm39) D213G probably damaging Het
Colgalt2 G A 1: 152,344,282 (GRCm39) V115M probably damaging Het
Ddx60 T C 8: 62,447,427 (GRCm39) V1138A probably damaging Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Dus2 C T 8: 106,775,286 (GRCm39) A271V probably benign Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Frem3 T C 8: 81,340,770 (GRCm39) V1021A probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hspb6 T C 7: 30,252,889 (GRCm39) S44P possibly damaging Het
Jsrp1 T C 10: 80,646,190 (GRCm39) I50V probably benign Het
Kansl1 T C 11: 104,269,515 (GRCm39) N476S probably benign Het
Kcnq2 T C 2: 180,722,946 (GRCm39) D810G probably damaging Het
Magea14 T C X: 51,057,867 (GRCm39) Y273C probably damaging Het
Maml2 C A 9: 13,531,406 (GRCm39) L207I possibly damaging Het
Myo3a A T 2: 22,345,089 (GRCm39) E508D probably benign Het
Nav1 T A 1: 135,385,651 (GRCm39) probably benign Het
Ndrg3 A T 2: 156,790,214 (GRCm39) C90S possibly damaging Het
Orc1 A G 4: 108,463,471 (GRCm39) S663G probably benign Het
Pcdhb14 T A 18: 37,583,195 (GRCm39) L767H probably damaging Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Por C A 5: 135,744,815 (GRCm39) T26K possibly damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Qsox1 T A 1: 155,662,671 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,506,465 (GRCm39) V129D probably benign Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Rxfp2 T G 5: 149,993,735 (GRCm39) V585G possibly damaging Het
Sftpd G A 14: 40,894,537 (GRCm39) T294I probably benign Het
Sh3gl1 A G 17: 56,343,456 (GRCm39) S2P probably damaging Het
Slc38a10 A T 11: 120,020,090 (GRCm39) F321I probably damaging Het
Slc4a10 T A 2: 62,074,687 (GRCm39) probably null Het
Slco6b1 A G 1: 96,925,115 (GRCm39) noncoding transcript Het
Slit1 T C 19: 41,602,856 (GRCm39) E985G probably benign Het
Smurf1 C T 5: 144,819,403 (GRCm39) E575K probably damaging Het
Sned1 A T 1: 93,213,577 (GRCm39) R426* probably null Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tmem182 T C 1: 40,877,530 (GRCm39) I135T probably damaging Het
Tmem67 T C 4: 12,073,922 (GRCm39) Y298C probably damaging Het
Trappc9 A G 15: 72,462,641 (GRCm39) C1026R probably damaging Het
Troap A G 15: 98,976,713 (GRCm39) D279G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r23 T C 6: 57,903,452 (GRCm39) T109A probably benign Het
Vmn2r25 A T 6: 123,800,606 (GRCm39) C579S probably damaging Het
Zbtb18 A G 1: 177,275,045 (GRCm39) D126G 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
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
R9243:Fancg UTSW 4 43,006,565 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- TGCACACATGGTACCAGCTC -3'
(R):5'- GACTTGAGGAGGCATGTTGC -3'

Sequencing Primer
(F):5'- CATGGTACCAGCTCAGTATATACAG -3'
(R):5'- ATTCTGAGTCAACCAGGGCTATG -3'
Posted On 2015-06-20