Incidental Mutation 'R4579:Fance'
ID 343540
Institutional Source Beutler Lab
Gene Symbol Fance
Ensembl Gene ENSMUSG00000007570
Gene Name Fanconi anemia, complementation group E
Synonyms 2810451D06Rik
MMRRC Submission 041801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R4579 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 28532504-28545548 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 28536125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088007] [ENSMUST00000088007] [ENSMUST00000088007] [ENSMUST00000088007] [ENSMUST00000114801] [ENSMUST00000114803] [ENSMUST00000114803] [ENSMUST00000114804] [ENSMUST00000114804] [ENSMUST00000123248] [ENSMUST00000133527] [ENSMUST00000146104] [ENSMUST00000156505]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000088007
SMART Domains Protein: ENSMUSP00000085322
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 212 5.9e-93 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000088007
SMART Domains Protein: ENSMUSP00000085322
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 212 5.9e-93 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000088007
SMART Domains Protein: ENSMUSP00000085322
Gene: ENSMUSG00000007570

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

DomainStartEndE-ValueType
Pfam:FA_FANCE 7 167 1.5e-68 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114803
SMART Domains Protein: ENSMUSP00000110451
Gene: ENSMUSG00000007570

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

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 67 4e-24 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (88/91)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930004D18Rik A G 2: 18,031,848 (GRCm39) I90T probably damaging Het
Acox3 A G 5: 35,761,987 (GRCm39) N444D probably damaging Het
Adamts16 A G 13: 70,927,743 (GRCm39) Y499H probably damaging Het
Ajm1 T A 2: 25,469,661 (GRCm39) R83S possibly damaging Het
Ank2 A T 3: 126,752,612 (GRCm39) V368D probably damaging Het
Atad5 T C 11: 79,986,017 (GRCm39) V368A probably damaging Het
Atp13a5 T C 16: 29,067,090 (GRCm39) probably null Het
Bdh1 A T 16: 31,254,954 (GRCm39) probably benign Het
Bmp6 A T 13: 38,653,701 (GRCm39) Y256F probably damaging Het
Bub1b C A 2: 118,453,657 (GRCm39) S496* probably null Het
Capn15 C T 17: 26,178,811 (GRCm39) R1128H probably damaging Het
Ccnf T A 17: 24,450,303 (GRCm39) R461* probably null Het
Col6a1 C T 10: 76,547,191 (GRCm39) V725I unknown Het
Cp T C 3: 20,011,599 (GRCm39) probably null Het
Cul2 T C 18: 3,430,957 (GRCm39) V577A probably benign Het
Cux2 A T 5: 121,998,716 (GRCm39) I1408K probably benign Het
Cyp2c69 T A 19: 39,869,630 (GRCm39) T130S possibly damaging Het
Cyp3a57 A G 5: 145,311,074 (GRCm39) T278A probably benign Het
Dchs1 T G 7: 105,403,972 (GRCm39) T2857P probably damaging Het
Dchs1 A G 7: 105,408,180 (GRCm39) M1884T probably benign Het
Dnah3 T C 7: 119,608,554 (GRCm39) S1802G probably damaging Het
Dner T C 1: 84,361,537 (GRCm39) S691G probably damaging Het
Dzip1l A T 9: 99,529,267 (GRCm39) Q332L probably damaging Het
Eprs1 A G 1: 185,133,804 (GRCm39) Y827C probably damaging Het
Ermp1 A T 19: 29,594,051 (GRCm39) N706K probably damaging Het
F830045P16Rik A G 2: 129,305,423 (GRCm39) L317S probably damaging Het
Fam120c G T X: 150,219,179 (GRCm39) G696W probably damaging Het
Fancl G T 11: 26,418,423 (GRCm39) probably null Het
Fbxo30 T A 10: 11,165,293 (GRCm39) V5E probably benign Het
Foxn4 A T 5: 114,394,886 (GRCm39) I347N possibly damaging Het
Galr2 A T 11: 116,172,325 (GRCm39) D5V probably benign Het
Gm4845 T G 1: 141,184,865 (GRCm39) noncoding transcript Het
Gnao1 A T 8: 94,693,532 (GRCm39) Q73L probably damaging Het
Gnpat T A 8: 125,605,241 (GRCm39) probably null Het
H2-T5 C T 17: 36,472,649 (GRCm39) probably benign Het
Hectd1 A G 12: 51,791,356 (GRCm39) M2594T probably damaging Het
Hint3 T C 10: 30,486,428 (GRCm39) H117R probably damaging Het
Hsd3b6 A G 3: 98,713,541 (GRCm39) F253L probably damaging Het
Itgal A G 7: 126,904,466 (GRCm39) D313G possibly damaging Het
Kbtbd2 A T 6: 56,755,893 (GRCm39) D614E probably damaging Het
Ksr2 A T 5: 117,894,335 (GRCm39) I825F probably damaging Het
L3mbtl4 A T 17: 69,071,635 (GRCm39) S521C probably benign Het
Lamc1 T C 1: 153,123,015 (GRCm39) N725S probably damaging Het
Med1 T G 11: 98,049,248 (GRCm39) E516A possibly damaging Het
Mical3 A T 6: 120,935,660 (GRCm39) V1622E probably benign Het
Miip G A 4: 147,945,518 (GRCm39) P373S probably damaging Het
Myo7a C A 7: 97,722,400 (GRCm39) S1175I probably damaging Het
Ndst3 A T 3: 123,340,474 (GRCm39) D781E probably benign Het
Nf1 T A 11: 79,359,583 (GRCm39) V1407E probably damaging Het
Opalin A G 19: 41,056,196 (GRCm39) L33P probably damaging Het
Or2f2 A T 6: 42,767,458 (GRCm39) I162F probably benign Het
Or2n1b G C 17: 38,460,296 (GRCm39) K272N probably damaging Het
Or4c111 T C 2: 88,843,488 (GRCm39) I307V probably benign Het
Or8b12i G T 9: 20,082,410 (GRCm39) S152R probably damaging Het
Or8k28 T C 2: 86,285,859 (GRCm39) Y252C probably damaging Het
Or8s10 A T 15: 98,335,560 (GRCm39) D70V probably damaging Het
Pcdhb2 T A 18: 37,429,168 (GRCm39) N23K probably damaging Het
Pdap1 A G 5: 145,073,691 (GRCm39) probably benign Het
Pds5b A G 5: 150,670,197 (GRCm39) E395G probably damaging Het
Pex1 C A 5: 3,668,880 (GRCm39) R624S probably benign Het
Pitrm1 G A 13: 6,608,261 (GRCm39) V329I probably benign Het
Pop1 G A 15: 34,515,970 (GRCm39) probably benign Het
Prkaa1 A G 15: 5,190,082 (GRCm39) probably null Het
Slc38a6 G T 12: 73,335,298 (GRCm39) probably null Het
Slc5a9 T A 4: 111,750,384 (GRCm39) Y158F probably damaging Het
Spata3 T A 1: 85,954,175 (GRCm39) V114E probably damaging Het
Tbcb T A 7: 29,931,019 (GRCm39) I34F possibly damaging Het
Tek T A 4: 94,751,903 (GRCm39) Y1014* probably null Het
Togaram1 G T 12: 65,014,681 (GRCm39) C644F probably damaging Het
Trim56 A C 5: 137,142,918 (GRCm39) D199E possibly damaging Het
Tssk3 A T 4: 129,383,110 (GRCm39) D187E probably benign Het
Ttn G A 2: 76,727,147 (GRCm39) probably benign Het
Twf2 G A 9: 106,090,025 (GRCm39) R126Q probably benign Het
Ugt1a10 T C 1: 87,983,838 (GRCm39) M212T probably benign Het
Vmn1r177 A T 7: 23,565,772 (GRCm39) F35I possibly damaging Het
Vmn1r44 T A 6: 89,870,915 (GRCm39) H77Q possibly damaging Het
Zfp1004 T A 2: 150,034,143 (GRCm39) Y186N probably damaging Het
Zfp524 G A 7: 5,021,347 (GRCm39) V292I probably benign Het
Zfp788 T G 7: 41,297,018 (GRCm39) I56S 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
R4483:Fance UTSW 17 28,534,781 (GRCm39) unclassified probably benign
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'- AGATCATGGACTCCGGCATG -3'
(R):5'- TAGCAACTCCATCTGGGTGG -3'

Sequencing Primer
(F):5'- CATGGGGCTGGGGAGTAC -3'
(R):5'- AGGACACTCAGCTGCCTCTG -3'
Posted On 2015-09-24