Incidental Mutation 'IGL00424:Fancb'
ID3077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fancb
Ensembl Gene ENSMUSG00000047757
Gene NameFanconi anemia, complementation group B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.231) question?
Stock #IGL00424
Quality Score
Status
ChromosomeX
Chromosomal Location164980592-164997272 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 164983338 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Proline at position 272 (Q272P)
Ref Sequence ENSEMBL: ENSMUSP00000128141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004715] [ENSMUST00000057150] [ENSMUST00000101082] [ENSMUST00000112247] [ENSMUST00000112248] [ENSMUST00000167446]
Predicted Effect probably benign
Transcript: ENSMUST00000004715
SMART Domains Protein: ENSMUSP00000004715
Gene: ENSMUSG00000061778

DomainStartEndE-ValueType
SCOP:d1aua_1 43 83 2e-3 SMART
SEC14 89 236 1.88e-19 SMART
Pfam:Motile_Sperm 327 432 4.8e-25 PFAM
transmembrane domain 492 514 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000057150
AA Change: Q272P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000101082
AA Change: Q272P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000112247
SMART Domains Protein: ENSMUSP00000107866
Gene: ENSMUSG00000061778

DomainStartEndE-ValueType
SCOP:d1aua_1 43 83 1e-3 SMART
SEC14 89 236 1.88e-19 SMART
Pfam:Motile_Sperm 327 432 1.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112248
SMART Domains Protein: ENSMUSP00000107867
Gene: ENSMUSG00000061778

DomainStartEndE-ValueType
SCOP:d1aua_1 43 83 1e-3 SMART
SEC14 89 236 1.88e-19 SMART
Pfam:Motile_Sperm 327 432 1.2e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154681
Predicted Effect probably damaging
Transcript: ENSMUST00000167446
AA Change: Q272P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176221
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 A G 3: 138,282,499 E108G probably benign Het
Afap1l2 A G 19: 57,002,308 probably benign Het
Als2cl T C 9: 110,886,539 probably null Het
Bpifb1 A G 2: 154,217,167 probably benign Het
Cux2 G A 5: 121,868,538 R890W possibly damaging Het
Fmnl1 G A 11: 103,197,340 W1008* probably null Het
Gfra2 T A 14: 70,968,239 probably benign Het
Gjd2 A G 2: 114,011,777 I73T probably damaging Het
Itgae T C 11: 73,145,635 I1133T probably benign Het
Kcnh1 T A 1: 192,418,882 V594E probably damaging Het
Maml2 T A 9: 13,620,912 V474E probably damaging Het
Mysm1 G A 4: 94,972,909 probably benign Het
Ntrk3 C T 7: 78,250,873 A573T probably benign Het
Pi4kb A G 3: 95,004,263 D348G probably damaging Het
Prol1 A G 5: 88,327,859 Y36C probably benign Het
Rfx6 T A 10: 51,681,886 C152S probably damaging Het
Rpp14 G A 14: 8,083,934 G30E possibly damaging Het
Tnxb T G 17: 34,714,692 F2362C probably damaging Het
Tpr T A 1: 150,398,595 probably benign Het
Trf G A 9: 103,226,936 A76V probably damaging Het
Tubgcp3 C T 8: 12,621,809 R811H probably benign Het
Zfp820 A T 17: 21,819,311 H345Q probably damaging Het
Other mutations in Fancb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Fancb APN X 164991598 missense probably damaging 1.00
IGL03400:Fancb APN X 164995591 missense possibly damaging 0.51
R3500:Fancb UTSW X 164996108 missense probably damaging 0.97
Z1177:Fancb UTSW X 164982555 missense probably damaging 1.00
Posted On2012-04-20