Incidental Mutation 'R7274:Fancd2os'
ID 565447
Institutional Source Beutler Lab
Gene Symbol Fancd2os
Ensembl Gene ENSMUSG00000033963
Gene Name Fancd2 opposite strand
Synonyms 4931417G12Rik
MMRRC Submission 067851-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R7274 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 113573722-113577676 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113574851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 52 (L52F)
Ref Sequence ENSEMBL: ENSMUSP00000035316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035870] [ENSMUST00000036340] [ENSMUST00000125139] [ENSMUST00000204827]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035870
AA Change: L52F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035316
Gene: ENSMUSG00000033963
AA Change: L52F

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 benign
Transcript: ENSMUST00000125139
AA Change: L52F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121804
Gene: ENSMUSG00000033963
AA Change: L52F

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (61/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190005I06Rik T C 8: 121,338,005 (GRCm39) S69G possibly damaging Het
Alg12 G A 15: 88,690,910 (GRCm39) S337F probably damaging Het
Bcl11a T C 11: 24,113,985 (GRCm39) S443P probably damaging Het
C1qtnf4 T C 2: 90,719,885 (GRCm39) Y53H probably damaging Het
Cacna1d T A 14: 29,864,600 (GRCm39) E454V probably damaging Het
Cacna1h A G 17: 25,597,811 (GRCm39) F1761S probably damaging Het
Cacna1i A T 15: 80,261,023 (GRCm39) I1344F possibly damaging Het
Cat T C 2: 103,307,235 (GRCm39) N33D probably benign Het
Cdh17 C T 4: 11,783,174 (GRCm39) Q172* probably null Het
Chrna2 A G 14: 66,386,675 (GRCm39) I274V probably benign Het
Cog2 T G 8: 125,262,258 (GRCm39) S299A possibly damaging Het
Cpa6 C A 1: 10,479,524 (GRCm39) M236I probably damaging Het
Crym T A 7: 119,789,742 (GRCm39) Q242L probably benign Het
Ddx60 T C 8: 62,393,142 (GRCm39) probably null Het
Eif4a3l1 A G 6: 136,306,396 (GRCm39) T286A possibly damaging Het
Epdr1 A T 13: 19,777,458 (GRCm39) I180N possibly damaging Het
Fbxo16 C A 14: 65,558,716 (GRCm39) R292S probably benign Het
Fn1 T C 1: 71,667,272 (GRCm39) Q820R probably benign Het
Gm4131 T A 14: 62,704,301 (GRCm39) Y140F possibly damaging Het
Grin2a T C 16: 9,396,986 (GRCm39) R1034G possibly damaging Het
Hypk A G 2: 121,284,805 (GRCm39) probably benign Het
Ighmbp2 A G 19: 3,314,951 (GRCm39) V823A probably benign Het
Irf5 A G 6: 29,534,039 (GRCm39) N95S probably damaging Het
Kdr A T 5: 76,125,360 (GRCm39) M379K probably benign Het
Kif19a G T 11: 114,656,281 (GRCm39) probably benign Het
Klhdc4 T C 8: 122,526,397 (GRCm39) probably null Het
Lama2 A T 10: 26,995,976 (GRCm39) I1717N probably damaging Het
Lama4 A T 10: 38,968,295 (GRCm39) Q1479L probably benign Het
Lgr5 T A 10: 115,288,410 (GRCm39) T745S probably damaging Het
Lifr T A 15: 7,196,540 (GRCm39) probably null Het
Llgl1 C T 11: 60,596,812 (GRCm39) R138C possibly damaging Het
Mccc1 A T 3: 36,044,005 (GRCm39) V246E probably damaging Het
Mdn1 T A 4: 32,725,944 (GRCm39) L2621H probably benign Het
Mecr C A 4: 131,581,089 (GRCm39) A80D probably damaging Het
Mia2 A G 12: 59,154,905 (GRCm39) E206G probably damaging Het
Nubpl A G 12: 52,179,203 (GRCm39) probably benign Het
Obscn C T 11: 59,024,053 (GRCm39) R539H probably damaging Het
Or4n4b T A 14: 50,535,879 (GRCm39) T296S probably benign Het
Or8h10 A G 2: 86,808,867 (GRCm39) V91A probably benign Het
Pde5a A T 3: 122,648,895 (GRCm39) K838* probably null Het
Pgm3 A G 9: 86,444,650 (GRCm39) L295P probably damaging Het
Pkp2 T C 16: 16,064,793 (GRCm39) L439P possibly damaging Het
Polr1a T A 6: 71,897,500 (GRCm39) C205* probably null Het
Rab3gap1 T A 1: 127,855,249 (GRCm39) I429K probably benign Het
Rassf8 T C 6: 145,761,295 (GRCm39) V207A probably benign Het
Sacs T A 14: 61,451,530 (GRCm39) D4525E possibly damaging Het
Sec24a A T 11: 51,598,082 (GRCm39) L864Q probably damaging Het
Spats2l C A 1: 57,918,672 (GRCm39) Y35* probably null Het
Sptlc2 A T 12: 87,388,380 (GRCm39) D367E probably benign Het
Ssc4d T C 5: 135,996,810 (GRCm39) D97G possibly damaging Het
Tjp1 A G 7: 65,177,400 (GRCm39) Y3H possibly damaging Het
Tkt T A 14: 30,291,102 (GRCm39) probably null Het
Trim60 T A 8: 65,453,133 (GRCm39) N372I possibly damaging Het
Trpm2 T C 10: 77,759,389 (GRCm39) N1132D probably benign Het
Tsc22d1 T C 14: 76,654,154 (GRCm39) I211T probably damaging Het
Ttc39b T C 4: 83,180,088 (GRCm39) K132E possibly damaging Het
Ttn C T 2: 76,553,932 (GRCm39) V30924I probably damaging Het
Tubgcp6 G A 15: 88,987,173 (GRCm39) Q1267* probably null Het
Zfp30 C A 7: 29,492,043 (GRCm39) T180N probably benign Het
Zp2 A G 7: 119,731,614 (GRCm39) *714R probably null Het
Other mutations in Fancd2os
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01716:Fancd2os APN 6 113,574,615 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- GCAGAAGGCTGACTTGTCTG -3'
(R):5'- TCCTTTAGGACTGTCAATGGCAG -3'

Sequencing Primer
(F):5'- GTCTGAAACTCTGAAGGTTCCAGTC -3'
(R):5'- ACTGTCAATGGCAGGCTAC -3'
Posted On 2019-06-26