Incidental Mutation 'R4483:Fance'
ID 331510
Institutional Source Beutler Lab
Gene Symbol Fance
Ensembl Gene ENSMUSG00000007570
Gene Name Fanconi anemia, complementation group E
Synonyms 2810451D06Rik
MMRRC Submission 041739-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R4483 (G1)
Quality Score 204
Status Validated
Chromosome 17
Chromosomal Location 28532504-28545548 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 28534781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088007] [ENSMUST00000114801] [ENSMUST00000114803] [ENSMUST00000114804] [ENSMUST00000123248] [ENSMUST00000156505] [ENSMUST00000133527] [ENSMUST00000146104]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000088007
SMART Domains Protein: ENSMUSP00000085322
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 212 5.9e-93 PFAM
Predicted Effect probably benign
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 probably benign
Transcript: ENSMUST00000114803
SMART Domains Protein: ENSMUSP00000110451
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 7 167 1.5e-68 PFAM
Predicted Effect probably benign
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 noncoding transcript
Transcript: ENSMUST00000124870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151312
Predicted Effect probably benign
Transcript: ENSMUST00000156505
SMART Domains Protein: ENSMUSP00000118622
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 67 4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133527
SMART Domains Protein: ENSMUSP00000122226
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 130 2.8e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146104
SMART Domains Protein: ENSMUSP00000114386
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 96 7.2e-39 PFAM
Meta Mutation Damage Score 0.1042 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (36/37)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,567,349 (GRCm39) G5275S probably benign Het
Akap11 A G 14: 78,747,699 (GRCm39) S1563P probably damaging Het
Ankrd50 A G 3: 38,511,680 (GRCm39) V229A probably damaging Het
AW112010 A G 19: 11,027,757 (GRCm39) noncoding transcript Het
Ccdc158 A G 5: 92,781,187 (GRCm39) S873P probably benign Het
Cep350 A G 1: 155,802,214 (GRCm39) V1104A probably benign Het
Chil4 G A 3: 106,121,678 (GRCm39) A57V probably damaging Het
Cpa5 A G 6: 30,624,625 (GRCm39) E155G probably damaging Het
Ctsq T C 13: 61,186,726 (GRCm39) I93V probably benign Het
Dbi A T 1: 120,048,535 (GRCm39) I37K probably benign Het
Defa35 T C 8: 21,555,208 (GRCm39) S43P probably damaging Het
Fbxl6 A G 15: 76,422,129 (GRCm39) L180P probably damaging Het
Fkbpl T C 17: 34,865,269 (GRCm39) F346L probably damaging Het
Gm11735 C A 11: 116,632,101 (GRCm39) noncoding transcript Het
Gm28042 T C 2: 119,866,321 (GRCm39) I373T possibly damaging Het
Golga4 T C 9: 118,343,254 (GRCm39) S27P probably damaging Het
Gstm1 C T 3: 107,923,834 (GRCm39) probably null Het
Lama3 T A 18: 12,682,310 (GRCm39) I1092K probably benign Het
Med15 A T 16: 17,489,428 (GRCm39) probably benign Het
Nlrp6 A G 7: 140,501,694 (GRCm39) D87G probably damaging Het
Parp11 A G 6: 127,448,568 (GRCm39) T62A probably benign Het
Pcnt A G 10: 76,237,317 (GRCm39) L1323S probably damaging Het
Ppp2r1a C T 17: 21,176,072 (GRCm39) T98I probably benign Het
Pramel11 T A 4: 143,622,410 (GRCm39) Y315F probably damaging Het
Prl7a2 T A 13: 27,844,930 (GRCm39) H152L possibly damaging Het
Rnf145 T C 11: 44,455,104 (GRCm39) S662P probably benign Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Tnfaip3 A T 10: 18,887,375 (GRCm39) M50K probably damaging Het
Txlnb T TTA 10: 17,714,745 (GRCm39) probably null Het
Usp9x A G X: 12,987,687 (GRCm39) D638G possibly damaging Het
Vmn1r30 A T 6: 58,412,118 (GRCm39) V238E probably damaging Het
Zfp507 A G 7: 35,487,141 (GRCm39) probably null Het
Zfp532 G T 18: 65,789,636 (GRCm39) W1025L probably benign 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
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
R8447:Fance UTSW 17 28,545,155 (GRCm39) missense unknown
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'- TTAGGGTCCCACTGTTGCTC -3'
(R):5'- TTTAGGGGATCTCTCTGACTCAGG -3'

Sequencing Primer
(F):5'- GGTCTGCCAGAAGAACCTG -3'
(R):5'- ATCTCTCTGACTCAGGGCTGG -3'
Posted On 2015-07-21