Incidental Mutation 'IGL02348:Fanca'
ID289362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fanca
Ensembl Gene ENSMUSG00000032815
Gene NameFanconi anemia, complementation group A
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.721) question?
Stock #IGL02348
Quality Score
Status
Chromosome8
Chromosomal Location123268300-123318576 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 123305263 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 256 (L256Q)
Ref Sequence ENSEMBL: ENSMUSP00000116614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035495] [ENSMUST00000118395] [ENSMUST00000127664] [ENSMUST00000127904]
Predicted Effect probably damaging
Transcript: ENSMUST00000035495
AA Change: L354Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045217
Gene: ENSMUSG00000032815
AA Change: L354Q

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 78 100 N/A INTRINSIC
Pfam:Fanconi_A_N 167 520 3.7e-146 PFAM
low complexity region 645 660 N/A INTRINSIC
low complexity region 778 790 N/A INTRINSIC
low complexity region 1069 1079 N/A INTRINSIC
low complexity region 1200 1225 N/A INTRINSIC
Pfam:Fanconi_A 1246 1308 8.4e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118395
AA Change: L354Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113125
Gene: ENSMUSG00000032815
AA Change: L354Q

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 78 100 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000127904
AA Change: L256Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116614
Gene: ENSMUSG00000032815
AA Change: L256Q

DomainStartEndE-ValueType
low complexity region 547 562 N/A INTRINSIC
low complexity region 680 692 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212953
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833423E24Rik T C 2: 85,493,296 I298V possibly damaging Het
Akap12 G A 10: 4,354,722 D511N probably damaging Het
Akt3 T A 1: 177,059,386 D299V probably damaging Het
Arfgef3 G A 10: 18,591,347 P2035L probably benign Het
Atp13a3 C T 16: 30,351,228 probably null Het
Capn9 C A 8: 124,594,677 P151T probably damaging Het
Csrnp1 T A 9: 119,972,643 D450V probably damaging Het
Ctrb1 C T 8: 111,687,130 A201T possibly damaging Het
Erp27 T C 6: 136,911,546 T145A probably damaging Het
Fars2 G A 13: 36,537,380 V433I probably benign Het
Fbxo9 T A 9: 78,109,007 M1L probably benign Het
Fcnb C A 2: 28,084,830 V10F possibly damaging Het
Gad2 C T 2: 22,629,393 H175Y probably damaging Het
Get4 G A 5: 139,252,499 G12D probably benign Het
Gmpr2 T A 14: 55,678,301 I312N probably damaging Het
Golm1 T A 13: 59,638,377 M334L probably benign Het
Itgam T A 7: 128,116,300 F1054L possibly damaging Het
Kcnk7 C A 19: 5,706,473 probably benign Het
Kif3b G A 2: 153,316,893 A205T probably damaging Het
Macf1 C T 4: 123,512,866 V276M probably damaging Het
Mdga2 T A 12: 66,550,575 N715I probably damaging Het
Mfap5 T A 6: 122,526,787 S103R possibly damaging Het
Nckap1 C T 2: 80,517,982 V876M probably damaging Het
Ncor1 A T 11: 62,333,659 probably benign Het
Nfya G A 17: 48,393,276 Q122* probably null Het
Nup210l G A 3: 90,104,164 probably benign Het
Olfr190 T G 16: 59,074,949 I44L probably damaging Het
Pcdhb19 T A 18: 37,498,808 L552Q probably damaging Het
Psmd2 T A 16: 20,654,647 S153T probably benign Het
Ptpn4 T C 1: 119,682,722 Y685C probably damaging Het
Rad54l2 T C 9: 106,720,376 R144G probably damaging Het
S1pr4 A C 10: 81,499,021 Y206* probably null Het
Slc39a14 A G 14: 70,316,436 probably null Het
Stx2 G A 5: 128,988,830 A254V probably damaging Het
Sumf2 G T 5: 129,859,870 G216C probably damaging Het
Tbc1d32 A G 10: 56,224,619 S88P probably benign Het
Trem1 T A 17: 48,232,796 M1K probably null Het
Trmt1l T C 1: 151,450,006 Y401H probably damaging Het
Ttc22 A T 4: 106,622,938 M130L probably damaging Het
Wnk1 T C 6: 119,963,328 E816G probably damaging Het
Wnt9b C T 11: 103,732,082 G165D probably damaging Het
Zscan21 A G 5: 138,133,383 T390A probably damaging Het
Zswim7 G T 11: 62,268,755 C85* probably null Het
Other mutations in Fanca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02805:Fanca APN 8 123289494 missense probably damaging 0.99
IGL03280:Fanca APN 8 123316459 unclassified probably benign
R0114:Fanca UTSW 8 123288491 splice site probably null
R0115:Fanca UTSW 8 123268539 missense probably benign 0.00
R0271:Fanca UTSW 8 123272441 unclassified probably benign
R0330:Fanca UTSW 8 123274172 nonsense probably null
R0345:Fanca UTSW 8 123304813 missense probably damaging 1.00
R0570:Fanca UTSW 8 123306430 missense probably benign 0.01
R0601:Fanca UTSW 8 123308513 missense probably damaging 0.99
R0617:Fanca UTSW 8 123288070 missense probably damaging 0.99
R0639:Fanca UTSW 8 123289359 critical splice donor site probably null
R0943:Fanca UTSW 8 123274186 missense probably damaging 1.00
R1140:Fanca UTSW 8 123313129 splice site probably null
R1364:Fanca UTSW 8 123304281 splice site probably benign
R1366:Fanca UTSW 8 123304281 splice site probably benign
R1367:Fanca UTSW 8 123304281 splice site probably benign
R1368:Fanca UTSW 8 123304281 splice site probably benign
R1969:Fanca UTSW 8 123288064 missense probably benign 0.41
R1992:Fanca UTSW 8 123297812 missense possibly damaging 0.94
R2060:Fanca UTSW 8 123274481 missense probably damaging 1.00
R2174:Fanca UTSW 8 123271270 missense probably benign 0.00
R2261:Fanca UTSW 8 123289359 critical splice donor site probably null
R3957:Fanca UTSW 8 123316363 missense probably benign 0.00
R4062:Fanca UTSW 8 123275172 missense probably benign 0.00
R4153:Fanca UTSW 8 123304878 missense possibly damaging 0.89
R4270:Fanca UTSW 8 123268794 missense probably damaging 1.00
R4424:Fanca UTSW 8 123288793 missense probably benign 0.11
R4581:Fanca UTSW 8 123274338 unclassified probably null
R4639:Fanca UTSW 8 123318150 missense probably damaging 0.98
R4664:Fanca UTSW 8 123268972 missense probably damaging 0.99
R4665:Fanca UTSW 8 123268972 missense probably damaging 0.99
R4666:Fanca UTSW 8 123268972 missense probably damaging 0.99
R4686:Fanca UTSW 8 123268934 splice site probably benign
R4775:Fanca UTSW 8 123296306 missense probably damaging 0.99
R4782:Fanca UTSW 8 123288202 missense probably damaging 1.00
R4799:Fanca UTSW 8 123288202 missense probably damaging 1.00
R4926:Fanca UTSW 8 123303985 missense probably benign 0.05
R4973:Fanca UTSW 8 123308522 missense probably damaging 0.96
R5039:Fanca UTSW 8 123284046 missense probably benign
R5195:Fanca UTSW 8 123303945 intron probably benign
R5590:Fanca UTSW 8 123303963 intron probably benign
R5848:Fanca UTSW 8 123295053 intron probably benign
R5965:Fanca UTSW 8 123316410 missense possibly damaging 0.46
R6224:Fanca UTSW 8 123305281 missense possibly damaging 0.87
R6385:Fanca UTSW 8 123305867 unclassified probably null
R6762:Fanca UTSW 8 123271303 missense probably benign 0.26
R6795:Fanca UTSW 8 123318493 missense probably benign 0.02
R6810:Fanca UTSW 8 123286477 missense probably damaging 0.99
R7153:Fanca UTSW 8 123316425 missense not run
V7732:Fanca UTSW 8 123304281 splice site probably benign
X0025:Fanca UTSW 8 123276548 intron probably benign
X0062:Fanca UTSW 8 123304852 missense possibly damaging 0.95
Posted On2015-04-16