Incidental Mutation 'R9416:Fance'
ID 712070
Institutional Source Beutler Lab
Gene Symbol Fance
Ensembl Gene ENSMUSG00000007570
Gene Name Fanconi anemia, complementation group E
Synonyms 2810451D06Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R9416 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 28532504-28545548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 28537327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 53 (C53Y)
Ref Sequence ENSEMBL: ENSMUSP00000110451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088007] [ENSMUST00000114801] [ENSMUST00000114803] [ENSMUST00000114804] [ENSMUST00000123248] [ENSMUST00000133527] [ENSMUST00000146104] [ENSMUST00000156505]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000088007
AA Change: C98Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085322
Gene: ENSMUSG00000007570
AA Change: C98Y

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 212 5.9e-93 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114801
AA Change: C53Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110449
Gene: ENSMUSG00000007570
AA Change: C53Y

DomainStartEndE-ValueType
Pfam:FA_FANCE 7 98 1.8e-32 PFAM
Pfam:FA_FANCE 93 125 7.6e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114803
AA Change: C53Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110451
Gene: ENSMUSG00000007570
AA Change: C53Y

DomainStartEndE-ValueType
Pfam:FA_FANCE 7 167 1.5e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114804
AA Change: C98Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110452
Gene: ENSMUSG00000007570
AA Change: C98Y

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 140 3.7e-56 PFAM
Pfam:FA_FANCE 137 170 6e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123248
AA Change: C67Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119663
Gene: ENSMUSG00000007570
AA Change: C67Y

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 154 3.1e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000133527
AA Change: C98Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122226
Gene: ENSMUSG00000007570
AA Change: C98Y

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 130 2.8e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000146104
AA Change: C3Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114386
Gene: ENSMUSG00000007570
AA Change: C3Y

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 96 7.2e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000156505
AA Change: C22Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118622
Gene: ENSMUSG00000007570
AA Change: C22Y

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 67 4e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 C T 4: 86,342,477 (GRCm39) T1672I probably damaging Het
Ahnak T G 19: 8,990,266 (GRCm39) M3850R unknown Het
Cacna1s T A 1: 136,022,689 (GRCm39) L874Q possibly damaging Het
Cacna2d4 A T 6: 119,274,479 (GRCm39) D622V probably benign Het
Ccdc150 T C 1: 54,317,990 (GRCm39) S310P probably damaging Het
Cecr2 A T 6: 120,735,538 (GRCm39) N148Y Het
Celsr2 T C 3: 108,322,084 (GRCm39) T243A probably damaging Het
Coro1b C T 19: 4,201,473 (GRCm39) T279I probably damaging Het
Cyp51 A G 5: 4,150,198 (GRCm39) I175T probably damaging Het
Dnajc21 T C 15: 10,462,048 (GRCm39) I118V possibly damaging Het
Dtna T C 18: 23,780,112 (GRCm39) probably null Het
Etl4 A G 2: 20,748,784 (GRCm39) K374R probably benign Het
Gm14496 G T 2: 181,640,647 (GRCm39) C538F probably damaging Het
Gon4l T A 3: 88,803,538 (GRCm39) V1383D probably benign Het
Gpr6 C A 10: 40,946,944 (GRCm39) D213Y possibly damaging Het
Has2 A G 15: 56,531,684 (GRCm39) Y344H probably damaging Het
Kcnh2 A T 5: 24,537,964 (GRCm39) M133K probably benign Het
Kdm5a A G 6: 120,365,056 (GRCm39) H152R probably damaging Het
Klhl33 C T 14: 51,130,225 (GRCm39) R163H probably damaging Het
Lax1 T A 1: 133,611,752 (GRCm39) Q61L probably benign Het
Lct T C 1: 128,228,329 (GRCm39) T1055A possibly damaging Het
Lrrc8c A G 5: 105,756,163 (GRCm39) Y646C possibly damaging Het
Mtarc1 T C 1: 184,527,633 (GRCm39) T274A probably benign Het
Myo1b A G 1: 51,902,577 (GRCm39) V51A probably damaging Het
Naip2 T A 13: 100,298,243 (GRCm39) S598C probably damaging Het
Neb A G 2: 52,137,215 (GRCm39) S250P Het
Nim1k A T 13: 120,189,362 (GRCm39) C16S probably benign Het
Oosp1 T C 19: 11,664,769 (GRCm39) T96A probably damaging Het
Or1e1c T C 11: 73,265,790 (GRCm39) S75P probably damaging Het
Or2q1 G T 6: 42,795,197 (GRCm39) R264L probably benign Het
Or8k17 T A 2: 86,066,744 (GRCm39) Q138L probably damaging Het
Pik3c2b C T 1: 133,005,187 (GRCm39) R563C probably damaging Het
Ppp1r18 CGAGGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGAGGA 17: 36,184,743 (GRCm39) probably benign Het
Prps1l1 T A 12: 35,035,089 (GRCm39) M68K Het
Prr11 A T 11: 86,992,254 (GRCm39) L207* probably null Het
Psme3 T C 11: 101,211,559 (GRCm39) Y202H probably damaging Het
Ptma A G 1: 86,455,694 (GRCm39) S57G unknown Het
Rab24 A G 13: 55,468,049 (GRCm39) V33A unknown Het
Reep6 A G 10: 80,166,091 (GRCm39) T83A probably benign Het
Semp2l2b C T 10: 21,943,752 (GRCm39) R76Q probably benign Het
Shroom4 GCAACAACAACAACAACAACAACAACA GCAACAACAACAACAACAACAACA X: 6,536,131 (GRCm39) probably benign Het
Siglec1 T C 2: 130,925,390 (GRCm39) K357R probably benign Het
Slc2a4 T A 11: 69,836,728 (GRCm39) H167L probably benign Het
Slc8a3 T A 12: 81,361,838 (GRCm39) H327L probably benign Het
Slf1 G A 13: 77,194,656 (GRCm39) L890F Het
Smchd1 A C 17: 71,701,791 (GRCm39) I1067R probably benign Het
Stk33 T A 7: 108,940,689 (GRCm39) N7I probably benign Het
Tex47 T C 5: 7,355,194 (GRCm39) M125T possibly damaging Het
Thada A T 17: 84,766,292 (GRCm39) L38* probably null Het
Thbs1 A G 2: 117,947,983 (GRCm39) D381G probably benign Het
Uggt1 A T 1: 36,203,603 (GRCm39) V1009D Het
Usp17la A T 7: 104,508,531 (GRCm39) probably benign Het
Zfp438 A T 18: 5,214,054 (GRCm39) N301K probably benign Het
Zfp606 T A 7: 12,227,907 (GRCm39) I676N possibly 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
R8447:Fance UTSW 17 28,545,155 (GRCm39) missense unknown
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'- GTGTAGGTGCGTGCAGAAAC -3'
(R):5'- CCAGGCAGGTTTAAGATCCC -3'

Sequencing Primer
(F):5'- TGCGTGCAGAAACAGTTCC -3'
(R):5'- AGGTTTAAGATCCCAGTGCC -3'
Posted On 2022-05-16