Incidental Mutation 'IGL01716:Fancd2os'
ID 104954
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fancd2os
Ensembl Gene ENSMUSG00000033963
Gene Name Fancd2 opposite strand
Synonyms 4931417G12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # IGL01716
Quality Score
Status
Chromosome 6
Chromosomal Location 113573722-113577676 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113574615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 130 (I130M)
Ref Sequence ENSEMBL: ENSMUSP00000121804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035870] [ENSMUST00000036340] [ENSMUST00000125139] [ENSMUST00000204827]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035870
AA Change: I130M

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035316
Gene: ENSMUSG00000033963
AA Change: I130M

DomainStartEndE-ValueType
Pfam:DUF4563 3 178 1.4e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036340
SMART Domains Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023

DomainStartEndE-ValueType
Pfam:FancD2 1 1415 N/A PFAM
low complexity region 1430 1450 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000125139
AA Change: I130M

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121804
Gene: ENSMUSG00000033963
AA Change: I130M

DomainStartEndE-ValueType
Pfam:DUF4563 1 178 5.2e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204827
SMART Domains Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023

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.] This gene encodes a conserved protein of unknown function. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,605,076 (GRCm39) R1773Q probably benign Het
Apba2 T C 7: 64,395,574 (GRCm39) probably benign Het
Asap2 A G 12: 21,304,307 (GRCm39) D741G possibly damaging Het
Cfap65 T C 1: 74,966,353 (GRCm39) T325A probably benign Het
Cyp2b23 A T 7: 26,378,915 (GRCm39) V183E probably damaging Het
Cyp4f14 T A 17: 33,124,470 (GRCm39) probably benign Het
Dip2b A G 15: 100,107,517 (GRCm39) T1176A probably benign Het
Dnah1 A G 14: 30,985,335 (GRCm39) I3852T probably benign Het
Exoc6 T A 19: 37,671,412 (GRCm39) S801T probably damaging Het
Flywch1 A G 17: 23,982,000 (GRCm39) V68A probably benign Het
Kif24 T C 4: 41,393,454 (GRCm39) T1140A probably benign Het
Limk2 C T 11: 3,308,990 (GRCm39) probably null Het
Mag C T 7: 30,599,812 (GRCm39) V576I probably benign Het
Mei4 C T 9: 81,772,235 (GRCm39) A16V probably damaging Het
Ncoa7 A G 10: 30,538,330 (GRCm39) I685T probably damaging Het
Nfxl1 A T 5: 72,698,277 (GRCm39) V256E probably damaging Het
Or1a1 C T 11: 74,087,207 (GRCm39) R293W probably benign Het
Or1j20 T A 2: 36,759,679 (GRCm39) F34I probably benign Het
Or9g4b A T 2: 85,616,487 (GRCm39) I211F probably damaging Het
Pcdhb2 T C 18: 37,429,791 (GRCm39) V588A probably damaging Het
Pcdhb5 T G 18: 37,454,075 (GRCm39) S152A probably benign Het
Pcdhb9 T A 18: 37,536,228 (GRCm39) S741T probably damaging Het
Plekha4 C A 7: 45,183,767 (GRCm39) S66R probably damaging Het
Prex2 A G 1: 11,336,278 (GRCm39) N1492S probably benign Het
Rbfox3 T C 11: 118,404,115 (GRCm39) H28R possibly damaging Het
Reep2 C T 18: 34,979,302 (GRCm39) T209I probably benign Het
Rptn A G 3: 93,304,017 (GRCm39) H450R possibly damaging Het
Spock3 A G 8: 63,808,384 (GRCm39) D427G unknown Het
Tnfrsf1b C T 4: 144,942,493 (GRCm39) C430Y probably damaging Het
Ttn T A 2: 76,560,746 (GRCm39) L29218F probably damaging Het
Ttn A T 2: 76,560,748 (GRCm39) L29218I probably damaging Het
Tubgcp3 T C 8: 12,691,094 (GRCm39) probably benign Het
Upp2 A C 2: 58,680,058 (GRCm39) T295P probably damaging Het
Xpo7 A G 14: 70,922,995 (GRCm39) V528A probably damaging Het
Zc3h7a A G 16: 10,963,580 (GRCm39) C714R probably damaging Het
Zfp764l1 A G 7: 126,991,208 (GRCm39) S260P possibly damaging Het
Zpbp A T 11: 11,354,052 (GRCm39) S295T probably benign Het
Other mutations in Fancd2os
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0026:Fancd2os UTSW 6 113,574,652 (GRCm39) missense probably damaging 0.99
R0026:Fancd2os UTSW 6 113,574,652 (GRCm39) missense probably damaging 0.99
R1460:Fancd2os UTSW 6 113,574,973 (GRCm39) missense probably damaging 1.00
R5665:Fancd2os UTSW 6 113,574,985 (GRCm39) missense probably damaging 1.00
R7274:Fancd2os UTSW 6 113,574,851 (GRCm39) missense probably benign
R7534:Fancd2os UTSW 6 113,574,601 (GRCm39) missense probably benign 0.01
R9460:Fancd2os UTSW 6 113,574,569 (GRCm39) missense probably benign 0.01
R9476:Fancd2os UTSW 6 113,574,994 (GRCm39) missense probably damaging 1.00
R9510:Fancd2os UTSW 6 113,574,994 (GRCm39) missense probably damaging 1.00
R9803:Fancd2os UTSW 6 113,574,938 (GRCm39) missense possibly damaging 0.84
RF008:Fancd2os UTSW 6 113,574,881 (GRCm39) missense probably damaging 0.99
Posted On 2014-01-21