Incidental Mutation 'R7354:Fancd2'
ID 570799
Institutional Source Beutler Lab
Gene Symbol Fancd2
Ensembl Gene ENSMUSG00000034023
Gene Name Fanconi anemia, complementation group D2
Synonyms 2410150O07Rik
MMRRC Submission 045440-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7354 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 113508643-113573978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113572907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1447 (D1447G)
Ref Sequence ENSEMBL: ENSMUSP00000045667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035870] [ENSMUST00000036340] [ENSMUST00000125139] [ENSMUST00000204827]
AlphaFold Q80V62
PDB Structure Structure of the FANCI-FANCD2 complex [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000035870
SMART Domains Protein: ENSMUSP00000035316
Gene: ENSMUSG00000033963

DomainStartEndE-ValueType
Pfam:DUF4563 3 178 1.4e-99 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000036340
AA Change: D1447G
SMART Domains Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: D1447G

DomainStartEndE-ValueType
Pfam:FancD2 1 1415 N/A PFAM
low complexity region 1430 1450 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125139
SMART Domains Protein: ENSMUSP00000121804
Gene: ENSMUSG00000033963

DomainStartEndE-ValueType
Pfam:DUF4563 1 178 5.2e-109 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000204827
AA Change: D1434G
SMART Domains Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: D1434G

DomainStartEndE-ValueType
Pfam:FancD2 1 1402 N/A PFAM
low complexity region 1417 1437 N/A INTRINSIC
Meta Mutation Damage Score 0.0624 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (82/82)
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 D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 T A 4: 126,311,099 (GRCm39) Q38L possibly damaging Het
Apon T A 10: 128,090,607 (GRCm39) I95N probably benign Het
Arid1a G T 4: 133,421,258 (GRCm39) P464Q unknown Het
Arid4b A G 13: 14,339,455 (GRCm39) D503G probably benign Het
Asxl2 T C 12: 3,505,637 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,048,028 (GRCm39) V594D probably damaging Het
Begain A G 12: 108,999,215 (GRCm39) F519L possibly damaging Het
Bora A G 14: 99,284,794 (GRCm39) T15A probably damaging Het
Btbd7 A T 12: 102,804,464 (GRCm39) M192K probably benign Het
Ccdc125 T G 13: 100,814,382 (GRCm39) probably null Het
Cdcp3 G A 7: 130,858,458 (GRCm39) C1042Y possibly damaging Het
Cdcp3 G T 7: 130,873,762 (GRCm39) C1696F unknown Het
Cfap74 G T 4: 155,549,804 (GRCm39) V146L unknown Het
Crisp1 G A 17: 40,630,071 (GRCm39) probably benign Het
Ctbp1 A T 5: 33,407,732 (GRCm39) H292Q possibly damaging Het
Defb5 T A 8: 19,300,750 (GRCm39) M34K probably benign Het
Dnajc27 A G 12: 4,146,249 (GRCm39) I93V probably benign Het
Dqx1 T A 6: 83,037,957 (GRCm39) Y448* probably null Het
Dynap A T 18: 70,374,371 (GRCm39) C52S possibly damaging Het
Ehd4 C A 2: 119,932,613 (GRCm39) R271L probably damaging Het
Ercc2 T G 7: 19,127,579 (GRCm39) I619S possibly damaging Het
Etf1 A G 18: 35,039,040 (GRCm39) I409T probably damaging Het
Fam117a A G 11: 95,271,529 (GRCm39) D367G probably damaging Het
Fbxw9 T C 8: 85,788,825 (GRCm39) S192P probably damaging Het
Frzb A T 2: 80,277,153 (GRCm39) L11Q probably damaging Het
Gm14496 T C 2: 181,642,479 (GRCm39) S717P probably damaging Het
Gm3250 A G 10: 77,618,367 (GRCm39) probably benign Het
Gm4353 C T 7: 115,683,146 (GRCm39) R145Q probably benign Het
Gpr12 A T 5: 146,520,772 (GRCm39) V50D probably damaging Het
Hes1 T C 16: 29,884,746 (GRCm39) probably null Het
Hmcn1 A T 1: 150,682,196 (GRCm39) C451* probably null Het
Iars1 T C 13: 49,857,796 (GRCm39) V347A probably benign Het
Igfn1 A G 1: 135,903,770 (GRCm39) S323P possibly damaging Het
Itga6 G A 2: 71,650,574 (GRCm39) A207T probably damaging Het
Lgi4 T A 7: 30,760,047 (GRCm39) L81H probably damaging Het
Lrp1 T C 10: 127,407,277 (GRCm39) E1888G probably damaging Het
Man2a1 C T 17: 65,059,539 (GRCm39) T1142M probably damaging Het
Mdfic2 T A 6: 98,215,242 (GRCm39) D127V probably damaging Het
Mgam A T 6: 40,721,732 (GRCm39) Y350F probably damaging Het
Miga1 T C 3: 151,996,137 (GRCm39) D351G probably damaging Het
Mro A G 18: 74,006,385 (GRCm39) T111A probably benign Het
Mtrr A T 13: 68,714,326 (GRCm39) V471E probably damaging Het
Myh3 C A 11: 66,987,708 (GRCm39) L1394I probably damaging Het
Myocd A G 11: 65,078,319 (GRCm39) V492A probably benign Het
Nbeal2 A G 9: 110,458,247 (GRCm39) F2115S probably damaging Het
Nlrp1b A T 11: 71,072,376 (GRCm39) M489K possibly damaging Het
Or12j5 A C 7: 140,084,099 (GRCm39) I91R probably damaging Het
Or14j7 A G 17: 38,235,284 (GRCm39) I276V probably benign Het
Or1e1c A T 11: 73,266,201 (GRCm39) I212F probably benign Het
Or4c122 T C 2: 89,079,031 (GRCm39) probably null Het
Or4k44 C T 2: 111,367,909 (GRCm39) A242T possibly damaging Het
Orc2 A G 1: 58,508,906 (GRCm39) S462P possibly damaging Het
Pcdh9 T C 14: 94,125,706 (GRCm39) T155A probably benign Het
Pcdhb16 G A 18: 37,611,177 (GRCm39) V46I possibly damaging Het
Pcdhb22 A G 18: 37,653,311 (GRCm39) D336G probably damaging Het
Pde4dip T A 3: 97,626,646 (GRCm39) R1297S probably damaging Het
Plin4 A G 17: 56,411,427 (GRCm39) M868T probably benign Het
Plxnb2 A G 15: 89,049,928 (GRCm39) M531T possibly damaging Het
Poc5 T C 13: 96,531,033 (GRCm39) V77A probably benign Het
Recql5 G A 11: 115,819,027 (GRCm39) R180C probably damaging Het
Rho C A 6: 115,912,464 (GRCm39) Y268* probably null Het
Riok1 A T 13: 38,231,288 (GRCm39) H182L probably benign Het
Rnf207 T C 4: 152,398,548 (GRCm39) D273G probably damaging Het
Serpinb11 A G 1: 107,305,263 (GRCm39) Y213C probably benign Het
Slc16a10 T C 10: 39,952,951 (GRCm39) Y181C probably damaging Het
Slc22a15 G A 3: 101,771,897 (GRCm39) H401Y probably benign Het
Slc5a5 C A 8: 71,342,247 (GRCm39) R268L probably damaging Het
Slc9a8 T C 2: 167,316,051 (GRCm39) F576S possibly damaging Het
Slx4 T C 16: 3,804,963 (GRCm39) E617G probably benign Het
Spata31d1e A T 13: 59,889,648 (GRCm39) L724* probably null Het
Top1 T C 2: 160,546,878 (GRCm39) I386T probably damaging Het
Tor1aip1 G T 1: 155,911,859 (GRCm39) D41E probably damaging Het
Tsc22d4 G A 5: 137,766,371 (GRCm39) R479Q probably benign Het
Unc79 C T 12: 103,108,961 (GRCm39) T2191I possibly damaging Het
Vmn2r109 A T 17: 20,761,043 (GRCm39) D771E probably damaging Het
Vmn2r82 A C 10: 79,192,464 (GRCm39) M14L probably benign Het
Zc3h7a C T 16: 10,966,378 (GRCm39) S583N probably damaging Het
Zfp518b G A 5: 38,840,122 (GRCm39) probably benign Het
Zswim4 A G 8: 84,955,478 (GRCm39) W314R probably damaging Het
Other mutations in Fancd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Fancd2 APN 6 113,541,357 (GRCm39) critical splice donor site probably null
IGL00475:Fancd2 APN 6 113,545,571 (GRCm39) missense probably benign 0.01
IGL01319:Fancd2 APN 6 113,561,860 (GRCm39) missense probably damaging 0.98
IGL01339:Fancd2 APN 6 113,530,713 (GRCm39) missense probably benign 0.00
IGL01373:Fancd2 APN 6 113,530,713 (GRCm39) missense probably benign 0.00
IGL01393:Fancd2 APN 6 113,554,321 (GRCm39) splice site probably benign
IGL01630:Fancd2 APN 6 113,540,085 (GRCm39) missense probably damaging 1.00
IGL01769:Fancd2 APN 6 113,522,072 (GRCm39) missense possibly damaging 0.90
IGL01882:Fancd2 APN 6 113,523,601 (GRCm39) missense probably benign 0.05
IGL02029:Fancd2 APN 6 113,547,936 (GRCm39) missense probably benign 0.44
IGL02224:Fancd2 APN 6 113,545,281 (GRCm39) critical splice donor site probably null
IGL02271:Fancd2 APN 6 113,512,720 (GRCm39) splice site probably benign
IGL02352:Fancd2 APN 6 113,540,073 (GRCm39) missense probably damaging 1.00
IGL02359:Fancd2 APN 6 113,540,073 (GRCm39) missense probably damaging 1.00
IGL02427:Fancd2 APN 6 113,526,313 (GRCm39) splice site probably null
IGL02512:Fancd2 APN 6 113,547,904 (GRCm39) missense probably damaging 1.00
IGL02530:Fancd2 APN 6 113,539,422 (GRCm39) missense probably damaging 1.00
IGL02801:Fancd2 APN 6 113,570,278 (GRCm39) missense probably benign 0.00
IGL03090:Fancd2 APN 6 113,514,558 (GRCm39) splice site probably null
IGL03247:Fancd2 APN 6 113,545,169 (GRCm39) missense probably benign 0.03
R0278:Fancd2 UTSW 6 113,525,409 (GRCm39) critical splice donor site probably null
R0401:Fancd2 UTSW 6 113,525,304 (GRCm39) missense possibly damaging 0.46
R0420:Fancd2 UTSW 6 113,513,940 (GRCm39) missense probably damaging 0.98
R0496:Fancd2 UTSW 6 113,532,091 (GRCm39) splice site probably benign
R0762:Fancd2 UTSW 6 113,551,619 (GRCm39) missense probably benign 0.20
R0827:Fancd2 UTSW 6 113,563,210 (GRCm39) critical splice donor site probably null
R1225:Fancd2 UTSW 6 113,512,822 (GRCm39) missense probably damaging 0.99
R1576:Fancd2 UTSW 6 113,555,366 (GRCm39) missense probably damaging 0.98
R2010:Fancd2 UTSW 6 113,570,252 (GRCm39) missense probably damaging 0.96
R2079:Fancd2 UTSW 6 113,532,148 (GRCm39) missense probably damaging 1.00
R2118:Fancd2 UTSW 6 113,537,035 (GRCm39) splice site probably benign
R2141:Fancd2 UTSW 6 113,526,282 (GRCm39) missense probably benign 0.00
R2168:Fancd2 UTSW 6 113,568,120 (GRCm39) missense possibly damaging 0.92
R2180:Fancd2 UTSW 6 113,551,598 (GRCm39) missense probably benign 0.33
R3016:Fancd2 UTSW 6 113,513,687 (GRCm39) missense probably benign 0.00
R3153:Fancd2 UTSW 6 113,570,230 (GRCm39) missense possibly damaging 0.55
R3154:Fancd2 UTSW 6 113,570,230 (GRCm39) missense possibly damaging 0.55
R3783:Fancd2 UTSW 6 113,542,165 (GRCm39) missense probably damaging 1.00
R3786:Fancd2 UTSW 6 113,542,165 (GRCm39) missense probably damaging 1.00
R3787:Fancd2 UTSW 6 113,542,165 (GRCm39) missense probably damaging 1.00
R4379:Fancd2 UTSW 6 113,538,677 (GRCm39) missense probably benign 0.00
R4388:Fancd2 UTSW 6 113,533,329 (GRCm39) missense probably damaging 0.99
R4544:Fancd2 UTSW 6 113,549,603 (GRCm39) critical splice acceptor site probably null
R4598:Fancd2 UTSW 6 113,562,438 (GRCm39) missense probably benign 0.06
R4832:Fancd2 UTSW 6 113,530,683 (GRCm39) missense probably benign 0.16
R4841:Fancd2 UTSW 6 113,539,391 (GRCm39) missense probably damaging 1.00
R4922:Fancd2 UTSW 6 113,562,434 (GRCm39) missense probably benign 0.03
R5375:Fancd2 UTSW 6 113,545,673 (GRCm39) missense possibly damaging 0.93
R5579:Fancd2 UTSW 6 113,537,012 (GRCm39) critical splice acceptor site probably null
R5782:Fancd2 UTSW 6 113,525,833 (GRCm39) missense probably benign 0.00
R5871:Fancd2 UTSW 6 113,533,243 (GRCm39) missense probably benign 0.30
R5901:Fancd2 UTSW 6 113,526,326 (GRCm39) missense probably damaging 1.00
R5909:Fancd2 UTSW 6 113,538,672 (GRCm39) missense probably benign
R6026:Fancd2 UTSW 6 113,528,731 (GRCm39) missense possibly damaging 0.46
R6166:Fancd2 UTSW 6 113,532,212 (GRCm39) missense possibly damaging 0.67
R6393:Fancd2 UTSW 6 113,555,374 (GRCm39) missense probably benign 0.01
R6666:Fancd2 UTSW 6 113,562,470 (GRCm39) missense probably damaging 0.96
R6669:Fancd2 UTSW 6 113,570,288 (GRCm39) missense probably benign 0.00
R6676:Fancd2 UTSW 6 113,514,626 (GRCm39) nonsense probably null
R6762:Fancd2 UTSW 6 113,562,977 (GRCm39) splice site probably null
R6911:Fancd2 UTSW 6 113,525,346 (GRCm39) missense probably damaging 0.98
R6992:Fancd2 UTSW 6 113,547,979 (GRCm39) critical splice donor site probably null
R7091:Fancd2 UTSW 6 113,522,062 (GRCm39) missense probably damaging 1.00
R7252:Fancd2 UTSW 6 113,533,246 (GRCm39) missense probably damaging 0.98
R7343:Fancd2 UTSW 6 113,513,900 (GRCm39) missense probably benign 0.01
R7344:Fancd2 UTSW 6 113,545,670 (GRCm39) missense probably benign 0.09
R7489:Fancd2 UTSW 6 113,541,265 (GRCm39) missense probably benign
R7501:Fancd2 UTSW 6 113,525,364 (GRCm39) missense possibly damaging 0.95
R7504:Fancd2 UTSW 6 113,521,999 (GRCm39) missense probably damaging 1.00
R7992:Fancd2 UTSW 6 113,542,165 (GRCm39) missense probably damaging 1.00
R8027:Fancd2 UTSW 6 113,523,583 (GRCm39) missense probably damaging 1.00
R8487:Fancd2 UTSW 6 113,545,187 (GRCm39) missense probably damaging 1.00
R8509:Fancd2 UTSW 6 113,549,531 (GRCm39) missense probably benign 0.00
R8757:Fancd2 UTSW 6 113,537,054 (GRCm39) missense possibly damaging 0.91
R8960:Fancd2 UTSW 6 113,540,129 (GRCm39) critical splice donor site probably null
R8978:Fancd2 UTSW 6 113,562,507 (GRCm39) splice site probably benign
R9110:Fancd2 UTSW 6 113,512,762 (GRCm39) missense possibly damaging 0.94
R9116:Fancd2 UTSW 6 113,532,180 (GRCm39) missense probably benign 0.00
R9490:Fancd2 UTSW 6 113,555,416 (GRCm39) missense probably damaging 0.98
R9667:Fancd2 UTSW 6 113,530,717 (GRCm39) nonsense probably null
Z1088:Fancd2 UTSW 6 113,558,383 (GRCm39) missense probably benign 0.00
Z1177:Fancd2 UTSW 6 113,521,986 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGGCATCTGCTTTAGCTTAGAAC -3'
(R):5'- CAACGATGGATGCTACACTGGAC -3'

Sequencing Primer
(F):5'- AGCACTGGCCTAAAGTAC -3'
(R):5'- ATGGATGCTACACTGGACTCCTG -3'
Posted On 2019-09-13