Incidental Mutation 'R9656:Fanca'
ID 727330
Institutional Source Beutler Lab
Gene Symbol Fanca
Ensembl Gene ENSMUSG00000032815
Gene Name Fanconi anemia, complementation group A
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.714) question?
Stock # R9656 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 123995039-124045315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 124031482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 403 (V403G)
Ref Sequence ENSEMBL: ENSMUSP00000045217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035495] [ENSMUST00000118395] [ENSMUST00000127664] [ENSMUST00000127904]
AlphaFold Q9JL70
Predicted Effect probably benign
Transcript: ENSMUST00000035495
AA Change: V403G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000045217
Gene: ENSMUSG00000032815
AA Change: V403G

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: V403G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113125
Gene: ENSMUSG00000032815
AA Change: V403G

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: V305G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116614
Gene: ENSMUSG00000032815
AA Change: V305G

DomainStartEndE-ValueType
low complexity region 547 562 N/A INTRINSIC
low complexity region 680 692 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 G A 8: 10,037,991 (GRCm39) G196E possibly damaging Het
Atad5 G T 11: 79,980,542 (GRCm39) probably benign Het
Atxn2 C T 5: 121,922,061 (GRCm39) T635I possibly damaging Het
Bbs10 T A 10: 111,135,545 (GRCm39) N219K probably benign Het
Bsn T A 9: 107,994,407 (GRCm39) T623S probably benign Het
Btnl9 T C 11: 49,060,008 (GRCm39) D580G probably damaging Het
Cckar A G 5: 53,857,318 (GRCm39) L364P probably damaging Het
Ccn5 A G 2: 163,670,985 (GRCm39) D164G probably benign Het
Cfap46 A T 7: 139,235,816 (GRCm39) M631K Het
Col1a1 T A 11: 94,839,372 (GRCm39) S1006T unknown Het
Cpe T C 8: 65,047,980 (GRCm39) Y428C probably damaging Het
Cyp2d26 C A 15: 82,677,059 (GRCm39) V122L probably benign Het
Fam114a1 T C 5: 65,163,246 (GRCm39) I181T probably benign Het
Fam83b A G 9: 76,452,863 (GRCm39) V68A probably benign Het
Grin2a T C 16: 9,397,471 (GRCm39) H872R possibly damaging Het
Grpel2 G T 18: 61,859,361 (GRCm39) R4S probably benign Het
Gstm1 T C 3: 107,925,072 (GRCm39) Y7C probably damaging Het
Hace1 A T 10: 45,547,545 (GRCm39) I497F probably benign Het
Hspg2 T C 4: 137,279,196 (GRCm39) V3093A probably benign Het
Ighv3-4 A T 12: 114,217,295 (GRCm39) F99I possibly damaging Het
Ints3 T C 3: 90,299,839 (GRCm39) M963V probably null Het
Krt12 T C 11: 99,309,471 (GRCm39) E263G Het
L1td1 T C 4: 98,622,223 (GRCm39) F262L probably benign Het
Lrp2bp A G 8: 46,466,158 (GRCm39) H110R probably benign Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Ncoa6 A G 2: 155,274,846 (GRCm39) I135T probably damaging Het
Nfatc3 G A 8: 106,830,766 (GRCm39) R695H probably damaging Het
Nkx1-2 T A 7: 132,201,228 (GRCm39) K10* probably null Het
Or2t44 G A 11: 58,677,635 (GRCm39) A192T possibly damaging Het
Or4f54 A T 2: 111,122,633 (GRCm39) T7S probably benign Het
Or5b110-ps1 T C 19: 13,260,035 (GRCm39) H129R possibly damaging Het
Or5b21 A G 19: 12,839,247 (GRCm39) Y36C probably damaging Het
Otog A G 7: 45,959,567 (GRCm39) T719A probably damaging Het
Prkdc T G 16: 15,617,818 (GRCm39) I3216M probably benign Het
Pygm A G 19: 6,438,187 (GRCm39) D252G probably benign Het
Rae1 T A 2: 172,854,590 (GRCm39) Y332* probably null Het
Rbm12 A T 2: 155,940,121 (GRCm39) D50E unknown Het
Rbm6 G A 9: 107,656,778 (GRCm39) R1000W probably damaging Het
Rd3l A T 12: 111,946,614 (GRCm39) V54E possibly damaging Het
Rft1 T C 14: 30,404,714 (GRCm39) V370A probably benign Het
Rfx8 T C 1: 39,709,679 (GRCm39) I449M probably benign Het
Satb1 A T 17: 52,112,264 (GRCm39) S117T possibly damaging Het
Slc24a2 T C 4: 86,968,144 (GRCm39) Y370C probably damaging Het
Slc5a4b C A 10: 75,944,391 (GRCm39) V85L probably damaging Het
Snrpn A T 7: 59,635,715 (GRCm39) V95E possibly damaging Het
Spata31e5 G T 1: 28,816,536 (GRCm39) H499N probably benign Het
Spata33 A T 8: 123,948,758 (GRCm39) N130I possibly damaging Het
Spmip2 T A 3: 79,313,183 (GRCm39) F86I probably benign Het
Tap1 A G 17: 34,412,525 (GRCm39) S521G probably damaging Het
Tbc1d13 C T 2: 30,032,429 (GRCm39) T180I possibly damaging Het
Tgm7 G A 2: 120,940,191 (GRCm39) probably benign Het
Tiam1 A G 16: 89,664,459 (GRCm39) M583T probably damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Vmn1r43 A T 6: 89,847,440 (GRCm39) H15Q possibly damaging Het
Zfp329 A T 7: 12,544,417 (GRCm39) V369E probably damaging Het
Zfp467 T A 6: 48,419,603 (GRCm39) E35V 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
R1992:Fanca UTSW 8 124,024,551 (GRCm39) missense possibly damaging 0.94
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
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'- GTCACACAGAAGGAGCACTC -3'
(R):5'- TGTTGAGGCTCCTCGTGAAG -3'

Sequencing Primer
(F):5'- CAGAAGGAGCACTCACACAG -3'
(R):5'- CCTGGCAATGGCATACTGG -3'
Posted On 2022-10-06