Incidental Mutation 'R8447:Fance'
ID 654577
Institutional Source Beutler Lab
Gene Symbol Fance
Ensembl Gene ENSMUSG00000007570
Gene Name Fanconi anemia, complementation group E
Synonyms 2810451D06Rik
MMRRC Submission 067902-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R8447 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 28532504-28545548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28545155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 127 (L127Q)
Ref Sequence ENSEMBL: ENSMUSP00000114386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042334] [ENSMUST00000088007] [ENSMUST00000114801] [ENSMUST00000114803] [ENSMUST00000114804] [ENSMUST00000123248] [ENSMUST00000146104] [ENSMUST00000129935] [ENSMUST00000156505]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000042334
SMART Domains Protein: ENSMUSP00000048469
Gene: ENSMUSG00000037805

DomainStartEndE-ValueType
Pfam:Ribosomal_L1 12 213 3.5e-49 PFAM
Predicted Effect silent
Transcript: ENSMUST00000088007
SMART Domains Protein: ENSMUSP00000085322
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 212 5.9e-93 PFAM
Predicted Effect silent
Transcript: ENSMUST00000114801
SMART Domains Protein: ENSMUSP00000110449
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 7 98 1.8e-32 PFAM
Pfam:FA_FANCE 93 125 7.6e-10 PFAM
Predicted Effect silent
Transcript: ENSMUST00000114803
SMART Domains Protein: ENSMUSP00000110451
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 7 167 1.5e-68 PFAM
Predicted Effect silent
Transcript: ENSMUST00000114804
SMART Domains Protein: ENSMUSP00000110452
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 140 3.7e-56 PFAM
Pfam:FA_FANCE 137 170 6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123248
SMART Domains Protein: ENSMUSP00000119663
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 154 3.1e-67 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000146104
AA Change: L127Q
SMART Domains Protein: ENSMUSP00000114386
Gene: ENSMUSG00000007570
AA Change: L127Q

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 96 7.2e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129935
SMART Domains Protein: ENSMUSP00000114141
Gene: ENSMUSG00000037805

DomainStartEndE-ValueType
Pfam:Ribosomal_L1 3 57 1.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156505
SMART Domains Protein: ENSMUSP00000118622
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 67 4e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the complementation group E subunit of the multimeric Fanconi anemia (FA) nuclear complex composed of proteins encoded by over ten Fanconi anemia complementation (FANC) group genes: FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The FA complex is necessary for protection against DNA damage. This gene product is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. Defects in the related human gene are a cause of Fanconi anemia, a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Translation of this protein is initiated at a non-AUG (CUG) start codon, which is inferred from the related human gene and the notion that this protein is functionally indispensable. Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2009]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A C 5: 8,957,278 (GRCm39) T136P probably damaging Het
Abcc3 A T 11: 94,254,886 (GRCm39) L639Q possibly damaging Het
Adam10 T A 9: 70,655,400 (GRCm39) N289K probably damaging Het
Akap12 A G 10: 4,306,289 (GRCm39) E1138G probably benign Het
Akr1e1 C A 13: 4,648,793 (GRCm39) L167F probably damaging Het
Cars1 T C 7: 143,123,766 (GRCm39) K506E possibly damaging Het
Castor1 T C 11: 4,170,165 (GRCm39) V81A probably damaging Het
Cfap46 C A 7: 139,260,902 (GRCm39) R65S possibly damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Clec16a C A 16: 10,559,487 (GRCm39) T920K probably benign Het
Coro2b C T 9: 62,333,842 (GRCm39) E351K probably damaging Het
Diablo T C 5: 123,655,829 (GRCm39) E163G probably damaging Het
Dnah6 A G 6: 73,115,757 (GRCm39) L1547P probably damaging Het
Dynll2 G T 11: 87,874,719 (GRCm39) D37E probably benign Het
Eml4 A T 17: 83,755,656 (GRCm39) Q408L probably damaging Het
F2rl3 T C 8: 73,489,963 (GRCm39) *397R probably null Het
Fat4 T C 3: 39,033,824 (GRCm39) V2492A possibly damaging Het
Ggta1 C T 2: 35,292,573 (GRCm39) D245N probably damaging Het
Gli1 T C 10: 127,166,106 (GRCm39) N1049S probably benign Het
Grin2c A G 11: 115,148,215 (GRCm39) V354A probably benign Het
Kank4 T A 4: 98,666,729 (GRCm39) I573F probably damaging Het
Kdm3a A G 6: 71,588,881 (GRCm39) V376A probably benign Het
Kndc1 T C 7: 139,481,121 (GRCm39) V69A probably damaging Het
Lcmt1 T A 7: 123,020,825 (GRCm39) L250Q probably damaging Het
Ldhb A T 6: 142,444,356 (GRCm39) V99D probably damaging Het
Lepr T C 4: 101,671,688 (GRCm39) V904A probably benign Het
Lipe G T 7: 25,080,017 (GRCm39) N710K probably damaging Het
Med1 C A 11: 98,060,240 (GRCm39) D230Y probably damaging Het
Mpv17l T A 16: 13,758,864 (GRCm39) I96K probably benign Het
Obox1 A T 7: 15,289,541 (GRCm39) Q110L probably damaging Het
Or11h6 T C 14: 50,880,008 (GRCm39) V84A probably benign Het
Or4f4b T A 2: 111,314,101 (GRCm39) Y137N probably damaging Het
Or4k37 T A 2: 111,159,307 (GRCm39) I181N possibly damaging Het
Or5t16 T A 2: 86,818,885 (GRCm39) I212F probably benign Het
Or6c76 T G 10: 129,612,371 (GRCm39) M211R possibly damaging Het
Or9s14 C A 1: 92,535,494 (GRCm39) probably benign Het
Pah T C 10: 87,417,827 (GRCm39) probably null Het
Pate1 A T 9: 35,597,631 (GRCm39) N40K probably benign Het
Pclo C A 5: 14,731,423 (GRCm39) D182E Het
Prl7a2 A T 13: 27,849,941 (GRCm39) S44T possibly damaging Het
Pwp2 T A 10: 78,007,873 (GRCm39) D894V probably benign Het
Ripor2 T A 13: 24,907,771 (GRCm39) L1014Q probably damaging Het
Rpe G A 1: 66,740,188 (GRCm39) probably null Het
Sh2d3c A G 2: 32,642,671 (GRCm39) T706A probably damaging Het
Slc34a1 T C 13: 24,006,309 (GRCm39) F445S possibly damaging Het
Spata20 C A 11: 94,373,080 (GRCm39) L515F probably damaging Het
Tcf20 G A 15: 82,737,437 (GRCm39) S1338F possibly damaging Het
Tm9sf2 C A 14: 122,377,180 (GRCm39) P236Q probably damaging Het
Tmem135 T C 7: 88,803,240 (GRCm39) Y311C probably damaging Het
Tmem245 T C 4: 56,906,261 (GRCm39) Q548R probably benign Het
Tmem94 G T 11: 115,688,023 (GRCm39) C1190F possibly damaging Het
Tmem94 G A 11: 115,688,696 (GRCm39) R1301H probably benign Het
Zp3 G A 5: 136,013,244 (GRCm39) G192E probably damaging Het
Other mutations in Fance
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Fance APN 17 28,541,753 (GRCm39) intron probably benign
R2068:Fance UTSW 17 28,539,799 (GRCm39) missense possibly damaging 0.91
R2513:Fance UTSW 17 28,537,068 (GRCm39) missense probably benign 0.00
R4483:Fance UTSW 17 28,534,781 (GRCm39) unclassified probably benign
R4579:Fance UTSW 17 28,536,125 (GRCm39) splice site probably null
R4664:Fance UTSW 17 28,534,636 (GRCm39) unclassified probably benign
R4719:Fance UTSW 17 28,537,293 (GRCm39) splice site probably benign
R5225:Fance UTSW 17 28,534,589 (GRCm39) unclassified probably benign
R5404:Fance UTSW 17 28,537,034 (GRCm39) missense probably null 1.00
R6165:Fance UTSW 17 28,545,068 (GRCm39) missense probably benign 0.28
R6845:Fance UTSW 17 28,536,565 (GRCm39) missense probably damaging 0.99
R7218:Fance UTSW 17 28,545,148 (GRCm39) missense probably benign 0.00
R8033:Fance UTSW 17 28,532,659 (GRCm39) unclassified probably benign
R9416:Fance UTSW 17 28,537,327 (GRCm39) missense probably damaging 1.00
R9485:Fance UTSW 17 28,536,479 (GRCm39) missense probably damaging 1.00
Z1176:Fance UTSW 17 28,537,038 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAGCCCATCTATCAGTGGGG -3'
(R):5'- AGTCAATATGGCCCCTGCAG -3'

Sequencing Primer
(F):5'- TGAGCTCCACTGCTGATAGAACTC -3'
(R):5'- CTGCAGAGCCTGGGGTG -3'
Posted On 2020-10-20