Incidental Mutation 'IGL00755:Fancl'
ID12616
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fancl
Ensembl Gene ENSMUSG00000004018
Gene NameFanconi anemia, complementation group L
SynonymsB230118H11Rik, 2010322C19Rik, Phf9, Pog, gcd
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.931) question?
Stock #IGL00755
Quality Score
Status
Chromosome11
Chromosomal Location26386135-26471876 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 26470916 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 349 (V349I)
Ref Sequence ENSEMBL: ENSMUSP00000105135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004120] [ENSMUST00000078362] [ENSMUST00000109504] [ENSMUST00000109509]
Predicted Effect probably benign
Transcript: ENSMUST00000004120
AA Change: V354I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000004120
Gene: ENSMUSG00000004018
AA Change: V354I

DomainStartEndE-ValueType
Pfam:WD-3 11 295 1.1e-106 PFAM
FANCL_C 303 371 7.55e-44 SMART
RING 307 362 2.77e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000078362
SMART Domains Protein: ENSMUSP00000077471
Gene: ENSMUSG00000064090

DomainStartEndE-ValueType
Pfam:Pkinase 29 298 4.4e-18 PFAM
Pfam:Pkinase_Tyr 29 313 2e-11 PFAM
low complexity region 365 376 N/A INTRINSIC
transmembrane domain 480 502 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109504
SMART Domains Protein: ENSMUSP00000105130
Gene: ENSMUSG00000064090

DomainStartEndE-ValueType
Pfam:Pkinase 29 302 2.8e-22 PFAM
Pfam:Pkinase_Tyr 29 313 1.3e-11 PFAM
low complexity region 365 376 N/A INTRINSIC
transmembrane domain 480 502 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109509
AA Change: V349I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105135
Gene: ENSMUSG00000004018
AA Change: V349I

DomainStartEndE-ValueType
Pfam:WD-3 8 290 2.4e-116 PFAM
FANCL_C 298 366 7.55e-44 SMART
RING 302 357 2.77e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134445
SMART Domains Protein: ENSMUSP00000119873
Gene: ENSMUSG00000004018

DomainStartEndE-ValueType
Pfam:WD-3 1 65 2.2e-24 PFAM
Pfam:FANCL_C 73 127 4.2e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143471
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the complementation group L subunit of the multimeric Fanconi anemia (FA) nuclear complex composed of proteins encoded by over ten Fanconi anemia complementation (FANC) group genes. The FA complex is necessary for protection against DNA damage. This gene product, an E3 ubiquitin ligase, catalyzes and is required for the monoubiquitination of the protein encoded by the Fanconi anemia, complementation group D2 gene, a critical step in the FA pathway (PMID: 12973351, 21229326). In mouse, mutations of this E3 ubiquitin ligase gene can lead to infertility in adult males and females, and a deletion of this gene can cause embryonic lethality in some genetic backgrounds. A pseudogene of this gene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygosity for mutations that inactivate the allele results in male and female infertility due to a defects in primordial germ cell proliferation. Homozygosity is embryonic lethal on some backgrounds. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,542,102 Y4381C possibly damaging Het
Card6 G A 15: 5,098,941 T991I possibly damaging Het
Cd163 A G 6: 124,318,657 N684S possibly damaging Het
Cep290 A G 10: 100,531,104 T1106A probably damaging Het
Cplx4 T A 18: 65,957,095 probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Dnah6 A T 6: 73,212,434 probably null Het
Dock8 A G 19: 25,051,509 K26E probably benign Het
Gsg1l A G 7: 125,923,426 F210S possibly damaging Het
Mboat2 T A 12: 24,957,646 V419E probably benign Het
Mycbp2 A G 14: 103,194,621 V2327A possibly damaging Het
Ndnf C T 6: 65,703,258 P174S probably damaging Het
Nlrp9b A T 7: 20,023,522 D228V probably damaging Het
Prps2 A T X: 167,374,142 I56N possibly damaging Het
Reln A G 5: 22,060,380 V438A probably damaging Het
Rmdn1 T A 4: 19,580,401 N42K probably benign Het
Sass6 G A 3: 116,618,328 E312K probably damaging Het
Scrn1 T A 6: 54,520,709 D299V possibly damaging Het
Slk T A 19: 47,609,010 C86S probably damaging Het
Veph1 C T 3: 66,255,010 E76K probably damaging Het
Zfp282 C T 6: 47,880,390 P186S probably damaging Het
Other mutations in Fancl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01940:Fancl APN 11 26459752 missense probably damaging 0.99
IGL02681:Fancl APN 11 26468722 splice site probably null
IGL03063:Fancl APN 11 26387299 missense probably damaging 1.00
R0006:Fancl UTSW 11 26469695 missense possibly damaging 0.46
R0006:Fancl UTSW 11 26469695 missense possibly damaging 0.46
R0218:Fancl UTSW 11 26471337 missense probably benign 0.30
R1016:Fancl UTSW 11 26387195 unclassified probably benign
R1802:Fancl UTSW 11 26459709 missense probably benign 0.01
R2018:Fancl UTSW 11 26422459 missense probably damaging 1.00
R2121:Fancl UTSW 11 26459841 splice site probably benign
R4579:Fancl UTSW 11 26468423 splice site probably null
R5472:Fancl UTSW 11 26469677 missense probably damaging 1.00
R5495:Fancl UTSW 11 26397801 missense probably damaging 1.00
R6425:Fancl UTSW 11 26399680 missense probably damaging 1.00
R7114:Fancl UTSW 11 26407615 missense probably damaging 1.00
R7139:Fancl UTSW 11 26403358 missense probably benign 0.01
R7302:Fancl UTSW 11 26403363 missense probably damaging 0.98
R7324:Fancl UTSW 11 26403362 missense probably damaging 1.00
R8307:Fancl UTSW 11 26399642 splice site probably benign
R8684:Fancl UTSW 11 26470826 missense
R8732:Fancl UTSW 11 26469754 missense probably benign
Posted On2012-12-06