Incidental Mutation 'R1992:Fanca'
ID 223662
Institutional Source Beutler Lab
Gene Symbol Fanca
Ensembl Gene ENSMUSG00000032815
Gene Name Fanconi anemia, complementation group A
Synonyms
MMRRC Submission 040003-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.714) question?
Stock # R1992 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 123995039-124045315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124024551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 425 (N425K)
Ref Sequence ENSEMBL: ENSMUSP00000116614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035495] [ENSMUST00000118395] [ENSMUST00000127664] [ENSMUST00000127904]
AlphaFold Q9JL70
Predicted Effect possibly damaging
Transcript: ENSMUST00000035495
AA Change: N523K

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045217
Gene: ENSMUSG00000032815
AA Change: N523K

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 benign
Transcript: ENSMUST00000118395
SMART Domains Protein: ENSMUSP00000113125
Gene: ENSMUSG00000032815

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 possibly damaging
Transcript: ENSMUST00000127904
AA Change: N425K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116614
Gene: ENSMUSG00000032815
AA Change: N425K

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.5%
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: 123 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T C 1: 138,781,380 (GRCm39) T90A probably damaging Het
A930011G23Rik T C 5: 99,381,784 (GRCm39) D326G possibly damaging Het
Abcc2 A T 19: 43,795,581 (GRCm39) I446F probably damaging Het
Adam34l T C 8: 44,080,176 (GRCm39) K16R probably benign Het
Adamts14 A G 10: 61,034,439 (GRCm39) Y1150H probably benign Het
Adgrl2 A G 3: 148,522,880 (GRCm39) I217T possibly damaging Het
Afap1l1 A T 18: 61,874,842 (GRCm39) Y446* probably null Het
Aimp2 G A 5: 143,843,548 (GRCm39) A14V probably damaging Het
Akap8 G A 17: 32,535,586 (GRCm39) H143Y probably damaging Het
Aldh2 A T 5: 121,714,026 (GRCm39) V207E possibly damaging Het
Aoc1l2 T A 6: 48,907,703 (GRCm39) H234Q probably damaging Het
Armc3 T C 2: 19,297,953 (GRCm39) Y575H probably damaging Het
Arpp21 T C 9: 111,986,861 (GRCm39) E230G probably damaging Het
Arrdc3 G A 13: 81,031,808 (GRCm39) D14N probably damaging Het
Atn1 A G 6: 124,722,291 (GRCm39) probably benign Het
Atxn7l1 G A 12: 33,408,743 (GRCm39) D302N probably damaging Het
Bbs1 T A 19: 4,941,736 (GRCm39) H518L probably benign Het
Bltp1 A T 3: 37,054,181 (GRCm39) H3100L probably benign Het
Bmpr1a C A 14: 34,147,050 (GRCm39) G241C probably damaging Het
Cacna1b G A 2: 24,622,318 (GRCm39) P222L probably damaging Het
Calcrl T C 2: 84,200,855 (GRCm39) Y63C probably damaging Het
Cand2 A G 6: 115,762,093 (GRCm39) H173R possibly damaging Het
Cap2 T A 13: 46,791,357 (GRCm39) Y175N possibly damaging Het
Card14 A T 11: 119,212,647 (GRCm39) probably null Het
Cd3d T A 9: 44,896,299 (GRCm39) Y29* probably null Het
Cd4 A G 6: 124,844,651 (GRCm39) V378A possibly damaging Het
Cluh A T 11: 74,550,828 (GRCm39) H318L probably damaging Het
Clvs1 T A 4: 9,281,899 (GRCm39) D114E probably benign Het
Cnot4 T A 6: 35,000,344 (GRCm39) T548S probably benign Het
Col18a1 T C 10: 76,916,988 (GRCm39) I114V unknown Het
Cr2 G A 1: 194,836,458 (GRCm39) P1278S possibly damaging Het
Crebbp A T 16: 3,946,561 (GRCm39) probably null Het
Dnah7a T G 1: 53,621,835 (GRCm39) K1097Q possibly damaging Het
Doc2a T A 7: 126,450,979 (GRCm39) probably null Het
Dpp10 A T 1: 123,832,833 (GRCm39) V48E probably null Het
Dsg2 A G 18: 20,734,530 (GRCm39) K836R probably damaging Het
Egr2 T C 10: 67,375,857 (GRCm39) V164A probably damaging Het
Erbin A T 13: 103,970,221 (GRCm39) S1132T probably benign Het
Espn T A 4: 152,213,012 (GRCm39) probably null Het
Fam83b A G 9: 76,399,304 (GRCm39) S600P probably benign Het
Flot2 C T 11: 77,949,445 (GRCm39) L294F probably damaging Het
Frs2 A G 10: 116,910,459 (GRCm39) V301A probably benign Het
Fv1 T A 4: 147,953,618 (GRCm39) N61K possibly damaging Het
Fxr2 A G 11: 69,540,659 (GRCm39) E339G possibly damaging Het
Gck T C 11: 5,856,515 (GRCm39) Y214C probably damaging Het
Golga3 C G 5: 110,340,839 (GRCm39) T551R probably damaging Het
Gorab A G 1: 163,224,625 (GRCm39) S59P probably damaging Het
Gsdme C T 6: 50,185,102 (GRCm39) V451M probably damaging Het
H2-T13 A C 17: 36,391,938 (GRCm39) I216S probably damaging Het
Herc4 T A 10: 63,081,743 (GRCm39) V22E possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hoxa2 A T 6: 52,141,576 (GRCm39) S17T probably damaging Het
Hs3st5 A G 10: 36,708,882 (GRCm39) Y139C probably damaging Het
Ism1 G A 2: 139,587,937 (GRCm39) V221I probably benign Het
Kalrn T G 16: 33,796,108 (GRCm39) L1222F probably damaging Het
Katnip A G 7: 125,419,261 (GRCm39) N476S probably benign Het
Kdm4c A G 4: 74,261,631 (GRCm39) D602G possibly damaging Het
Ktn1 A G 14: 47,932,978 (GRCm39) K711E probably damaging Het
Lce1k A T 3: 92,714,125 (GRCm39) C20S unknown Het
Macf1 A G 4: 123,350,488 (GRCm39) S3792P probably damaging Het
Maml3 C T 3: 51,598,178 (GRCm39) M189I probably benign Het
Mcc C A 18: 44,624,382 (GRCm39) E213* probably null Het
Mep1a T G 17: 43,813,573 (GRCm39) I13L probably benign Het
Mkrn2 G T 6: 115,586,562 (GRCm39) C16F probably damaging Het
Mlh1 C T 9: 111,057,631 (GRCm39) A727T probably damaging Het
Muc21 A T 17: 35,929,600 (GRCm39) S1529T probably benign Het
Naa16 T C 14: 79,593,931 (GRCm39) Y344C probably damaging Het
Nebl T A 2: 17,457,321 (GRCm39) I80F probably damaging Het
Nlrc4 T A 17: 74,752,628 (GRCm39) Y585F probably benign Het
Nrcam A G 12: 44,587,753 (GRCm39) K149R probably damaging Het
Nufip1 T A 14: 76,372,287 (GRCm39) I467N probably damaging Het
Nup133 A G 8: 124,632,960 (GRCm39) I1057T possibly damaging Het
Obscn A T 11: 58,886,653 (GRCm39) probably benign Het
Or10ag52 T A 2: 87,043,588 (GRCm39) C117* probably null Het
Or5k1 A G 16: 58,617,309 (GRCm39) V300A probably benign Het
Or5k14 A C 16: 58,692,874 (GRCm39) I213R probably benign Het
Pi4k2a A T 19: 42,104,377 (GRCm39) I380F probably damaging Het
Piezo2 A T 18: 63,207,733 (GRCm39) L1426Q probably null Het
Pik3cg A T 12: 32,254,024 (GRCm39) D654E possibly damaging Het
Poli G T 18: 70,642,058 (GRCm39) P714Q probably damaging Het
Polr3f A G 2: 144,378,230 (GRCm39) N201D probably benign Het
Prorp A G 12: 55,384,991 (GRCm39) D89G probably damaging Het
Ptprz1 A T 6: 22,959,747 (GRCm39) K81N probably benign Het
Rbm19 T C 5: 120,271,948 (GRCm39) probably null Het
Sec24a C T 11: 51,627,190 (GRCm39) V241I probably benign Het
Sgk3 A G 1: 9,950,567 (GRCm39) T160A possibly damaging Het
Slc1a4 A G 11: 20,254,375 (GRCm39) I497T probably benign Het
Slc26a9 A T 1: 131,690,532 (GRCm39) D512V probably damaging Het
Slc43a3 C T 2: 84,788,084 (GRCm39) R489C probably damaging Het
Slc5a12 T A 2: 110,452,089 (GRCm39) F327L probably benign Het
Slitrk3 A G 3: 72,957,104 (GRCm39) V556A possibly damaging Het
Spata6l A G 19: 28,926,024 (GRCm39) F130L probably damaging Het
Spib T C 7: 44,178,281 (GRCm39) E180G probably benign Het
Spint2 T A 7: 28,958,833 (GRCm39) N128Y probably damaging Het
Spx G A 6: 142,364,245 (GRCm39) G102E probably benign Het
Spz1 T A 13: 92,712,166 (GRCm39) E103D possibly damaging Het
Sstr2 T C 11: 113,515,495 (GRCm39) I138T probably benign Het
Sytl3 T A 17: 7,000,448 (GRCm39) I206N possibly damaging Het
Tcaf2 T C 6: 42,606,791 (GRCm39) T388A probably benign Het
Tdpoz8 G T 3: 92,981,344 (GRCm39) A121S probably benign Het
Thap12 T C 7: 98,365,572 (GRCm39) V580A possibly damaging Het
Tlr5 T A 1: 182,801,912 (GRCm39) D405E probably damaging Het
Tnxb T C 17: 34,890,878 (GRCm39) V407A probably damaging Het
Tpx2 T A 2: 152,732,544 (GRCm39) M606K probably benign Het
Trim43a T G 9: 88,466,312 (GRCm39) L211R probably damaging Het
Trim46 A T 3: 89,145,008 (GRCm39) Y489N probably damaging Het
Ttc28 C T 5: 111,424,188 (GRCm39) S1485L probably benign Het
Ttll8 T C 15: 88,798,654 (GRCm39) T694A probably benign Het
Txnl1 T C 18: 63,812,585 (GRCm39) T70A probably benign Het
Ube3a C T 7: 58,953,535 (GRCm39) A823V probably damaging Het
Ubqln5 C A 7: 103,778,741 (GRCm39) V28F probably damaging Het
Ulk1 T A 5: 110,935,017 (GRCm39) Q972L probably damaging Het
Unc93b1 T C 19: 3,994,062 (GRCm39) Y398H probably benign Het
Usp1 A G 4: 98,822,531 (GRCm39) D615G probably benign Het
Utp15 A G 13: 98,387,420 (GRCm39) C385R probably benign Het
Vmn2r91 T A 17: 18,356,142 (GRCm39) V603D probably damaging Het
Whamm C T 7: 81,241,519 (GRCm39) R277* probably null Het
Wnt8a A G 18: 34,677,937 (GRCm39) D115G probably damaging Het
Yjefn3 A T 8: 70,341,645 (GRCm39) probably null Het
Ywhab A T 2: 163,853,807 (GRCm39) I95F probably damaging Het
Zfp143 C T 7: 109,660,489 (GRCm39) probably benign Het
Zfp607b C G 7: 27,401,949 (GRCm39) T135R possibly damaging Het
Zfp970 A G 2: 177,166,663 (GRCm39) Q79R possibly damaging Het
Other mutations in Fanca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02348:Fanca APN 8 124,032,002 (GRCm39) missense probably damaging 1.00
IGL02805:Fanca APN 8 124,016,233 (GRCm39) missense probably damaging 0.99
IGL03280:Fanca APN 8 124,043,198 (GRCm39) unclassified probably benign
PIT4402001:Fanca UTSW 8 124,039,803 (GRCm39) missense possibly damaging 0.83
R0114:Fanca UTSW 8 124,015,230 (GRCm39) splice site probably null
R0115:Fanca UTSW 8 123,995,278 (GRCm39) missense probably benign 0.00
R0271:Fanca UTSW 8 123,999,180 (GRCm39) unclassified probably benign
R0330:Fanca UTSW 8 124,000,911 (GRCm39) nonsense probably null
R0345:Fanca UTSW 8 124,031,552 (GRCm39) missense probably damaging 1.00
R0570:Fanca UTSW 8 124,033,169 (GRCm39) missense probably benign 0.01
R0601:Fanca UTSW 8 124,035,252 (GRCm39) missense probably damaging 0.99
R0617:Fanca UTSW 8 124,014,809 (GRCm39) missense probably damaging 0.99
R0639:Fanca UTSW 8 124,016,098 (GRCm39) critical splice donor site probably null
R0943:Fanca UTSW 8 124,000,925 (GRCm39) missense probably damaging 1.00
R1140:Fanca UTSW 8 124,039,868 (GRCm39) splice site probably null
R1364:Fanca UTSW 8 124,031,020 (GRCm39) splice site probably benign
R1366:Fanca UTSW 8 124,031,020 (GRCm39) splice site probably benign
R1367:Fanca UTSW 8 124,031,020 (GRCm39) splice site probably benign
R1368:Fanca UTSW 8 124,031,020 (GRCm39) splice site probably benign
R1969:Fanca UTSW 8 124,014,803 (GRCm39) missense probably benign 0.41
R2060:Fanca UTSW 8 124,001,220 (GRCm39) missense probably damaging 1.00
R2174:Fanca UTSW 8 123,998,009 (GRCm39) missense probably benign 0.00
R2261:Fanca UTSW 8 124,016,098 (GRCm39) critical splice donor site probably null
R3957:Fanca UTSW 8 124,043,102 (GRCm39) missense probably benign 0.00
R4062:Fanca UTSW 8 124,001,911 (GRCm39) missense probably benign 0.00
R4153:Fanca UTSW 8 124,031,617 (GRCm39) missense possibly damaging 0.89
R4270:Fanca UTSW 8 123,995,533 (GRCm39) missense probably damaging 1.00
R4424:Fanca UTSW 8 124,015,532 (GRCm39) missense probably benign 0.11
R4581:Fanca UTSW 8 124,001,077 (GRCm39) splice site probably null
R4639:Fanca UTSW 8 124,044,889 (GRCm39) missense probably damaging 0.98
R4664:Fanca UTSW 8 123,995,711 (GRCm39) missense probably damaging 0.99
R4665:Fanca UTSW 8 123,995,711 (GRCm39) missense probably damaging 0.99
R4666:Fanca UTSW 8 123,995,711 (GRCm39) missense probably damaging 0.99
R4686:Fanca UTSW 8 123,995,673 (GRCm39) splice site probably benign
R4775:Fanca UTSW 8 124,023,045 (GRCm39) missense probably damaging 0.99
R4782:Fanca UTSW 8 124,014,941 (GRCm39) missense probably damaging 1.00
R4799:Fanca UTSW 8 124,014,941 (GRCm39) missense probably damaging 1.00
R4926:Fanca UTSW 8 124,030,724 (GRCm39) missense probably benign 0.05
R4973:Fanca UTSW 8 124,035,261 (GRCm39) missense probably damaging 0.96
R5039:Fanca UTSW 8 124,010,785 (GRCm39) missense probably benign
R5195:Fanca UTSW 8 124,030,684 (GRCm39) intron probably benign
R5590:Fanca UTSW 8 124,030,702 (GRCm39) intron probably benign
R5848:Fanca UTSW 8 124,021,792 (GRCm39) intron probably benign
R5965:Fanca UTSW 8 124,043,149 (GRCm39) missense possibly damaging 0.46
R6224:Fanca UTSW 8 124,032,020 (GRCm39) missense possibly damaging 0.87
R6385:Fanca UTSW 8 124,032,606 (GRCm39) splice site probably null
R6762:Fanca UTSW 8 123,998,042 (GRCm39) missense probably benign 0.26
R6795:Fanca UTSW 8 124,045,232 (GRCm39) missense probably benign 0.02
R6810:Fanca UTSW 8 124,013,216 (GRCm39) missense probably damaging 0.99
R7153:Fanca UTSW 8 124,043,164 (GRCm39) missense probably damaging 1.00
R7170:Fanca UTSW 8 123,997,945 (GRCm39) missense probably damaging 1.00
R7204:Fanca UTSW 8 124,013,216 (GRCm39) missense probably damaging 0.98
R7366:Fanca UTSW 8 124,007,952 (GRCm39) missense probably benign 0.08
R7599:Fanca UTSW 8 123,997,999 (GRCm39) missense probably benign
R7639:Fanca UTSW 8 124,018,134 (GRCm39) critical splice donor site probably null
R7650:Fanca UTSW 8 123,995,303 (GRCm39) splice site probably null
R8066:Fanca UTSW 8 124,030,679 (GRCm39) missense unknown
R8247:Fanca UTSW 8 124,010,694 (GRCm39) unclassified probably benign
R8312:Fanca UTSW 8 123,996,549 (GRCm39) intron probably benign
R8327:Fanca UTSW 8 124,039,984 (GRCm39) nonsense probably null
R8719:Fanca UTSW 8 124,014,867 (GRCm39) missense probably benign 0.00
R8826:Fanca UTSW 8 123,995,209 (GRCm39) missense probably benign 0.07
R8987:Fanca UTSW 8 124,024,538 (GRCm39) missense probably damaging 1.00
R9017:Fanca UTSW 8 124,035,307 (GRCm39) missense possibly damaging 0.69
R9319:Fanca UTSW 8 124,018,190 (GRCm39) missense probably benign
R9471:Fanca UTSW 8 124,000,897 (GRCm39) missense possibly damaging 0.88
R9542:Fanca UTSW 8 124,023,078 (GRCm39) missense probably damaging 0.98
R9656:Fanca UTSW 8 124,031,482 (GRCm39) missense probably benign 0.02
R9708:Fanca UTSW 8 124,001,263 (GRCm39) nonsense probably null
V7732:Fanca UTSW 8 124,031,020 (GRCm39) splice site probably benign
X0025:Fanca UTSW 8 124,003,287 (GRCm39) intron probably benign
X0062:Fanca UTSW 8 124,031,591 (GRCm39) missense possibly damaging 0.95
Z1177:Fanca UTSW 8 124,039,368 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTGCTAGTGTGGTCAAACAAAG -3'
(R):5'- GCAGGTGCATATTTTCCACCC -3'

Sequencing Primer
(F):5'- CTAGTGTGGTCAAACAAAGACAGAC -3'
(R):5'- ATATTTTCCACCCACCCCTGG -3'
Posted On 2014-08-25