Incidental Mutation 'R2121:Fancl'
ID 231462
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 040125-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R2121 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 26337084-26421883 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 26409841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004120] [ENSMUST00000109509]
AlphaFold Q9CR14
Predicted Effect probably benign
Transcript: ENSMUST00000004120
SMART Domains Protein: ENSMUSP00000004120
Gene: ENSMUSG00000004018

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: ENSMUST00000109509
SMART Domains Protein: ENSMUSP00000105135
Gene: ENSMUSG00000004018

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 noncoding transcript
Transcript: ENSMUST00000143471
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Adnp2 A G 18: 80,172,385 (GRCm39) F675L probably benign Het
Akna G A 4: 63,295,137 (GRCm39) T1024I probably benign Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Aox3 T C 1: 58,191,708 (GRCm39) probably benign Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Arhgef26 A T 3: 62,247,704 (GRCm39) N263Y probably damaging Het
Arpp21 A G 9: 111,965,738 (GRCm39) S375P probably damaging Het
Bscl2 G T 19: 8,817,146 (GRCm39) E25* probably null Het
Ccl12 T A 11: 81,992,776 (GRCm39) S17R probably damaging Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Ceacam9 T A 7: 16,455,928 (GRCm39) F12I probably benign Het
Cfap47 T C X: 78,553,927 (GRCm39) I267V probably benign Het
Cldn23 A G 8: 36,293,389 (GRCm39) V33A probably benign Het
Cog1 T C 11: 113,540,424 (GRCm39) L13P probably damaging Het
Col20a1 G C 2: 180,638,249 (GRCm39) A346P probably damaging Het
Col6a3 T C 1: 90,738,087 (GRCm39) D537G probably damaging Het
Ctnnd2 G A 15: 30,669,660 (GRCm39) R423H probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dcdc2a T G 13: 25,303,268 (GRCm39) S266R possibly damaging Het
Diaph1 A T 18: 38,029,442 (GRCm39) M330K unknown Het
Dnah5 C T 15: 28,297,151 (GRCm39) probably benign Het
F13a1 T A 13: 37,209,653 (GRCm39) Y104F probably benign Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Gm10477 A G X: 55,570,192 (GRCm39) K31E probably damaging Het
Gstm7 T C 3: 107,834,230 (GRCm39) M175V probably benign Het
Hcn4 T C 9: 58,731,341 (GRCm39) S183P unknown Het
Heatr1 T C 13: 12,418,145 (GRCm39) V359A probably benign Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Ints6l T A X: 55,550,228 (GRCm39) S718T probably benign Het
Kctd5 T C 17: 24,274,940 (GRCm39) T212A probably benign Het
Kdm3b T C 18: 34,929,833 (GRCm39) probably benign Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Lyst A G 13: 13,835,556 (GRCm39) Y1746C probably damaging Het
Mageb5 A G X: 90,823,701 (GRCm39) I226T probably damaging Het
Mdc1 C T 17: 36,158,835 (GRCm39) A405V probably benign Het
Mlc1 A G 15: 88,847,634 (GRCm39) Y305H probably benign Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Muc4 A G 16: 32,580,612 (GRCm39) Y2474C unknown Het
Mybphl A C 3: 108,282,492 (GRCm39) N175T probably damaging Het
Ncbp3 T C 11: 72,944,304 (GRCm39) V102A possibly damaging Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Odad4 T A 11: 100,457,837 (GRCm39) probably null Het
Or7e173 T G 9: 19,938,797 (GRCm39) I146L probably benign Het
Or8j3 T A 2: 86,028,340 (GRCm39) Y252F possibly damaging Het
Palb2 T C 7: 121,727,004 (GRCm39) T289A possibly damaging Het
Pde10a A T 17: 9,196,047 (GRCm39) Q657L probably damaging Het
Ppp2r2a A T 14: 67,260,577 (GRCm39) F234I probably damaging Het
Prl3c1 T A 13: 27,383,325 (GRCm39) probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Serpina3m A G 12: 104,355,941 (GRCm39) M203V possibly damaging Het
Slc6a21 A T 7: 44,937,886 (GRCm39) I726F probably benign Het
Spmap2l A T 5: 77,208,605 (GRCm39) I378L probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tfdp2 T C 9: 96,177,067 (GRCm39) S75P probably damaging Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmed11 G A 5: 108,943,198 (GRCm39) probably benign Het
Tmem81 C A 1: 132,435,847 (GRCm39) Q218K probably benign Het
Tnfsf11 G A 14: 78,537,333 (GRCm39) T110I probably benign Het
Tub G A 7: 108,625,944 (GRCm39) G232S probably damaging Het
Vmn2r121 A T X: 123,043,439 (GRCm39) probably null Het
Vwa5b1 T C 4: 138,315,880 (GRCm39) T621A probably benign Het
Ythdf3 T C 3: 16,259,356 (GRCm39) F501S possibly 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
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
R5495:Fancl UTSW 11 26,347,801 (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'- AGCCTGAGTGCAGTGCTTTG -3'
(R):5'- AGCCCTTCCCATCTAAAACATTTG -3'

Sequencing Primer
(F):5'- GCTGGATGTAGAGCATATTAACTTCC -3'
(R):5'- CAGGTTTTGTTCCTAAGAGT -3'
Posted On 2014-09-18