Incidental Mutation 'R5495:Fancl'
ID 432301
Institutional Source Beutler Lab
Gene Symbol Fancl
Ensembl Gene ENSMUSG00000004018
Gene Name Fanconi anemia, complementation group L
Synonyms gcd, 2010322C19Rik, Pog, B230118H11Rik, Phf9
MMRRC Submission 043056-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R5495 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 26337084-26421883 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 26347801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 51 (A51G)
Ref Sequence ENSEMBL: ENSMUSP00000117073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004120] [ENSMUST00000109509] [ENSMUST00000136830]
AlphaFold Q9CR14
Predicted Effect probably damaging
Transcript: ENSMUST00000004120
AA Change: A51G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000004120
Gene: ENSMUSG00000004018
AA Change: A51G

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 damaging
Transcript: ENSMUST00000109509
AA Change: A51G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105135
Gene: ENSMUSG00000004018
AA Change: A51G

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 damaging
Transcript: ENSMUST00000136830
AA Change: A51G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117073
Gene: ENSMUSG00000004018
AA Change: A51G

DomainStartEndE-ValueType
Pfam:WD-3 8 75 7.8e-26 PFAM
Pfam:WD-3 71 123 4.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143471
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.4%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 T C 7: 27,335,594 (GRCm39) probably null Het
Arhgap29 T G 3: 121,808,578 (GRCm39) M844R probably damaging Het
Atp1a1 T G 3: 101,498,741 (GRCm39) D184A probably benign Het
Bcl11a T A 11: 24,115,042 (GRCm39) V795E possibly damaging Het
Casp12 T A 9: 5,353,797 (GRCm39) I277N possibly damaging Het
Ccdc59 A G 10: 105,681,239 (GRCm39) K164E probably damaging Het
D630003M21Rik C T 2: 158,062,431 (GRCm39) G30S possibly damaging Het
Dgkd A G 1: 87,854,594 (GRCm39) D632G probably damaging Het
Efr3a A G 15: 65,687,258 (GRCm39) K56E possibly damaging Het
Egflam T A 15: 7,280,722 (GRCm39) R434S probably damaging Het
Fkbp7 T C 2: 76,493,638 (GRCm39) Y185C probably damaging Het
Galc A G 12: 98,197,673 (GRCm39) probably null Het
Galnt15 A G 14: 31,751,774 (GRCm39) S109G probably damaging Het
Gramd2b T C 18: 56,615,694 (GRCm39) I163T probably damaging Het
Impa1 A G 3: 10,391,230 (GRCm39) V80A probably benign Het
Itga10 T C 3: 96,554,687 (GRCm39) M56T possibly damaging Het
Larp1b G T 3: 40,990,257 (GRCm39) R135I probably damaging Het
Lgals12 C T 19: 7,581,495 (GRCm39) A71T probably damaging Het
Lmbr1 A T 5: 29,551,851 (GRCm39) L78* probably null Het
Lrat C A 3: 82,804,289 (GRCm39) M229I probably benign Het
Mug2 A T 6: 122,056,609 (GRCm39) M1185L probably damaging Het
Naprt T C 15: 75,765,696 (GRCm39) probably null Het
Nfat5 A G 8: 108,095,079 (GRCm39) I1107V probably benign Het
Nr4a2 T C 2: 57,002,387 (GRCm39) Y22C probably damaging Het
Ogfod1 C A 8: 94,790,906 (GRCm39) Q526K probably benign Het
Or2d4 C A 7: 106,543,699 (GRCm39) G170* probably null Het
Or3a10 G A 11: 73,935,611 (GRCm39) T163I probably damaging Het
Or4p21 T C 2: 88,276,401 (GRCm39) T294A probably benign Het
Or8g36 T C 9: 39,422,441 (GRCm39) T192A probably benign Het
Parp10 T G 15: 76,127,366 (GRCm39) I24L probably benign Het
Pcdha11 A G 18: 37,144,079 (GRCm39) T57A probably benign Het
Prdm8 A G 5: 98,333,165 (GRCm39) E244G possibly damaging Het
Prl6a1 T C 13: 27,496,654 (GRCm39) S3P possibly damaging Het
Rab11fip3 T A 17: 26,235,117 (GRCm39) T18S probably damaging Het
Rfc4 T C 16: 22,941,004 (GRCm39) probably benign Het
Rubcnl G T 14: 75,279,777 (GRCm39) V387F possibly damaging Het
S100a7l2 A T 3: 90,997,602 (GRCm39) L38M possibly damaging Het
Serpinb12 T C 1: 106,884,151 (GRCm39) L299P probably damaging Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Taar4 A T 10: 23,837,181 (GRCm39) I264F possibly damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Thsd7b T A 1: 129,523,570 (GRCm39) H124Q probably damaging Het
Ugt1a6a A T 1: 88,066,746 (GRCm39) Q184L probably benign Het
Vnn1 T A 10: 23,774,462 (GRCm39) F168L probably damaging Het
Zan A G 5: 137,468,670 (GRCm39) L267P probably damaging Het
Zswim8 A G 14: 20,772,354 (GRCm39) S1621G probably damaging Het
Other mutations in Fancl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00755:Fancl APN 11 26,420,916 (GRCm39) missense probably benign
IGL01940:Fancl APN 11 26,409,752 (GRCm39) missense probably damaging 0.99
IGL02681:Fancl APN 11 26,418,722 (GRCm39) splice site probably null
IGL03063:Fancl APN 11 26,337,299 (GRCm39) missense probably damaging 1.00
R0006:Fancl UTSW 11 26,419,695 (GRCm39) missense possibly damaging 0.46
R0006:Fancl UTSW 11 26,419,695 (GRCm39) missense possibly damaging 0.46
R0218:Fancl UTSW 11 26,421,337 (GRCm39) missense probably benign 0.30
R1016:Fancl UTSW 11 26,337,195 (GRCm39) unclassified probably benign
R1802:Fancl UTSW 11 26,409,709 (GRCm39) missense probably benign 0.01
R2018:Fancl UTSW 11 26,372,459 (GRCm39) missense probably damaging 1.00
R2121:Fancl UTSW 11 26,409,841 (GRCm39) splice site probably benign
R4579:Fancl UTSW 11 26,418,423 (GRCm39) splice site probably null
R5472:Fancl UTSW 11 26,419,677 (GRCm39) missense probably damaging 1.00
R6425:Fancl UTSW 11 26,349,680 (GRCm39) missense probably damaging 1.00
R7114:Fancl UTSW 11 26,357,615 (GRCm39) missense probably damaging 1.00
R7139:Fancl UTSW 11 26,353,358 (GRCm39) missense probably benign 0.01
R7302:Fancl UTSW 11 26,353,363 (GRCm39) missense probably damaging 0.98
R7324:Fancl UTSW 11 26,353,362 (GRCm39) missense probably damaging 1.00
R8307:Fancl UTSW 11 26,349,642 (GRCm39) splice site probably benign
R8684:Fancl UTSW 11 26,420,826 (GRCm39) missense
R8732:Fancl UTSW 11 26,419,754 (GRCm39) missense probably benign
R9139:Fancl UTSW 11 26,337,231 (GRCm39) missense probably benign 0.45
R9277:Fancl UTSW 11 26,418,847 (GRCm39) missense possibly damaging 0.46
R9568:Fancl UTSW 11 26,418,672 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGTCTTTGAAACCATGCTCCTG -3'
(R):5'- CTTTTGCCCCTTAAATCAGAACTTG -3'

Sequencing Primer
(F):5'- GAAACCATGCTCCTGTCTTAATG -3'
(R):5'- GCCCCTTAAATCAGAACTTGTTAGG -3'
Posted On 2016-10-05