Incidental Mutation 'IGL02512:Fancd2'
ID 296616
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fancd2
Ensembl Gene ENSMUSG00000034023
Gene Name Fanconi anemia, complementation group D2
Synonyms 2410150O07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02512
Quality Score
Status
Chromosome 6
Chromosomal Location 113508643-113573978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113547904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 927 (D927G)
Ref Sequence ENSEMBL: ENSMUSP00000144928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036340] [ENSMUST00000129462] [ENSMUST00000204827]
AlphaFold Q80V62
Predicted Effect probably damaging
Transcript: ENSMUST00000036340
AA Change: D927G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: D927G

DomainStartEndE-ValueType
Pfam:FancD2 1 1415 N/A PFAM
low complexity region 1430 1450 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000129462
AA Change: D39G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145220
Gene: ENSMUSG00000034023
AA Change: D39G

DomainStartEndE-ValueType
Pfam:FancD2 1 80 4.9e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204827
AA Change: D927G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: D927G

DomainStartEndE-ValueType
Pfam:FancD2 1 1402 N/A PFAM
low complexity region 1417 1437 N/A INTRINSIC
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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b C A 15: 90,111,752 (GRCm39) H199N probably benign Het
Ankrd13a T A 5: 114,924,827 (GRCm39) M104K probably benign Het
Ankrd37 A G 8: 46,452,325 (GRCm39) L48P probably damaging Het
Ankzf1 T A 1: 75,169,222 (GRCm39) L43M probably damaging Het
Ano10 A C 9: 122,101,540 (GRCm39) V77G possibly damaging Het
Arg2 G A 12: 79,194,517 (GRCm39) V114I probably benign Het
Asah1 A C 8: 41,813,344 (GRCm39) probably benign Het
Clpx A C 9: 65,217,533 (GRCm39) I34L probably benign Het
Cnga2 G A X: 71,052,531 (GRCm39) V469I probably damaging Het
Dock9 A T 14: 121,856,950 (GRCm39) probably benign Het
Eaf1 A G 14: 31,219,743 (GRCm39) T61A possibly damaging Het
Exoc3l T A 8: 106,017,115 (GRCm39) D624V probably damaging Het
Fbn1 A T 2: 125,180,380 (GRCm39) Y1801N probably damaging Het
Garnl3 A G 2: 32,921,150 (GRCm39) Y292H probably damaging Het
Gpr174 A T X: 106,336,577 (GRCm39) K130* probably null Het
Greb1 C T 12: 16,742,713 (GRCm39) V1379I possibly damaging Het
Grik2 A T 10: 49,232,008 (GRCm39) D507E probably benign Het
Gsn A T 2: 35,173,962 (GRCm39) K24* probably null Het
Ift80 A G 3: 68,835,058 (GRCm39) probably null Het
Inpp5j T A 11: 3,449,661 (GRCm39) Y707F probably damaging Het
Ints13 A T 6: 146,477,855 (GRCm39) D31E probably damaging Het
Kcnh1 T C 1: 192,187,689 (GRCm39) F717L possibly damaging Het
Klhdc8a T C 1: 132,230,895 (GRCm39) probably null Het
Klkb1 G A 8: 45,729,277 (GRCm39) probably benign Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Msh6 T C 17: 88,292,160 (GRCm39) V305A probably benign Het
Myo6 T A 9: 80,199,801 (GRCm39) probably null Het
Nampt T A 12: 32,880,268 (GRCm39) Y54N possibly damaging Het
Neurog2 G T 3: 127,427,504 (GRCm39) E43* probably null Het
Obscn C T 11: 58,919,343 (GRCm39) R6887H probably damaging Het
Or10ag58 A G 2: 87,265,402 (GRCm39) I190M possibly damaging Het
Or5ac25 T C 16: 59,182,171 (GRCm39) N137D possibly damaging Het
Or6c203 A G 10: 129,010,119 (GRCm39) I257T possibly damaging Het
Pdss1 A G 2: 22,802,658 (GRCm39) I166V probably damaging Het
Phaf1 G A 8: 105,961,110 (GRCm39) probably benign Het
Ptpn21 T C 12: 98,645,651 (GRCm39) T1096A probably benign Het
Reln A G 5: 22,245,425 (GRCm39) Y728H probably benign Het
Sec31a T C 5: 100,555,052 (GRCm39) D56G probably damaging Het
Shroom1 T A 11: 53,357,386 (GRCm39) V683E probably damaging Het
Slc5a11 A G 7: 122,864,478 (GRCm39) D358G probably damaging Het
Slfn3 T A 11: 83,103,851 (GRCm39) S241T possibly damaging Het
Slitrk3 G A 3: 72,957,735 (GRCm39) P346S probably benign Het
Specc1 T A 11: 62,009,215 (GRCm39) S324T probably damaging Het
Sptlc3 T C 2: 139,389,123 (GRCm39) Y168H probably damaging Het
St3gal6 C T 16: 58,293,822 (GRCm39) E236K probably benign Het
Tet2 A T 3: 133,175,069 (GRCm39) M1426K probably benign Het
Tinag A T 9: 76,939,069 (GRCm39) probably benign Het
Tjp1 A G 7: 64,993,415 (GRCm39) S53P probably damaging Het
Uimc1 T C 13: 55,188,431 (GRCm39) T543A possibly damaging Het
Wdfy4 A G 14: 32,764,448 (GRCm39) W2147R probably benign Het
Zmym1 C T 4: 126,942,465 (GRCm39) C641Y 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
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
R7354:Fancd2 UTSW 6 113,572,907 (GRCm39) missense unknown
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
Posted On 2015-04-16