Incidental Mutation 'IGL03400:Fancb'
ID 421397
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fancb
Ensembl Gene ENSMUSG00000047757
Gene Name Fanconi anemia, complementation group B
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # IGL03400
Quality Score
Status
Chromosome X
Chromosomal Location 163763678-163780266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 163778587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 587 (S587P)
Ref Sequence ENSEMBL: ENSMUSP00000098643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057150] [ENSMUST00000101082] [ENSMUST00000167446]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000057150
Predicted Effect possibly damaging
Transcript: ENSMUST00000101082
AA Change: S587P

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000167446
AA Change: S578P

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
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 member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with oligozoospermia, reduced primordial germ cells and defects in the maintenance of undifferentiated spermatogonia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Bmp3 T C 5: 99,019,957 (GRCm39) S127P probably damaging Het
Cemip A G 7: 83,607,724 (GRCm39) S761P probably damaging Het
Cenatac A G 9: 44,324,486 (GRCm39) V185A probably benign Het
Ces3b A G 8: 105,819,568 (GRCm39) T495A probably damaging Het
Cops3 A T 11: 59,708,914 (GRCm39) D413E probably benign Het
Cyp4f16 A G 17: 32,769,327 (GRCm39) I406V probably benign Het
Efcab6 A T 15: 83,751,246 (GRCm39) probably benign Het
Emsy A G 7: 98,251,933 (GRCm39) V703A possibly damaging Het
Farp1 A G 14: 121,444,733 (GRCm39) Y80C probably damaging Het
Fgf10 T C 13: 118,918,151 (GRCm39) probably null Het
Fgf13 A G X: 58,171,248 (GRCm39) probably benign Het
Filip1 T C 9: 79,727,755 (GRCm39) K288R probably benign Het
L3mbtl3 T C 10: 26,191,424 (GRCm39) N458S unknown Het
Nek11 C T 9: 105,082,065 (GRCm39) A513T probably benign Het
Or10a3m A C 7: 108,312,733 (GRCm39) I46L probably benign Het
Or11q2 T A X: 48,772,781 (GRCm39) L134Q probably damaging Het
Or2ah1 T C 2: 85,654,094 (GRCm39) Y260H probably damaging Het
Palld G T 8: 61,966,489 (GRCm39) A630E probably damaging Het
Pdk1 T C 2: 71,726,091 (GRCm39) M333T probably benign Het
Rab9 T C X: 165,240,744 (GRCm39) N189S probably benign Het
Shtn1 C T 19: 59,020,690 (GRCm39) probably benign Het
Sntg1 T C 1: 8,533,638 (GRCm39) I339V probably damaging Het
Spns3 A G 11: 72,390,501 (GRCm39) V418A possibly damaging Het
St14 T A 9: 31,008,267 (GRCm39) probably benign Het
Tedc2 T C 17: 24,438,777 (GRCm39) D180G probably benign Het
Trim33 T C 3: 103,236,459 (GRCm39) I523T probably damaging Het
Ttn T A 2: 76,551,208 (GRCm39) M23068L probably benign Het
Ttn T C 2: 76,579,266 (GRCm39) M15549V probably damaging Het
Tubgcp6 A G 15: 88,992,302 (GRCm39) probably benign Het
Ube3c A G 5: 29,806,345 (GRCm39) Y329C probably benign Het
Zmym4 G T 4: 126,816,920 (GRCm39) D259E probably benign Het
Other mutations in Fancb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Fancb APN X 163,766,334 (GRCm39) missense probably damaging 1.00
IGL00987:Fancb APN X 163,774,594 (GRCm39) missense probably damaging 1.00
R3500:Fancb UTSW X 163,779,104 (GRCm39) missense probably damaging 0.97
Z1177:Fancb UTSW X 163,765,551 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02