Incidental Mutation 'R0271:Fanca'
ID 35303
Institutional Source Beutler Lab
Gene Symbol Fanca
Ensembl Gene ENSMUSG00000032815
Gene Name Fanconi anemia, complementation group A
Synonyms
MMRRC Submission 038497-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.714) question?
Stock # R0271 (G1)
Quality Score 137
Status Validated
Chromosome 8
Chromosomal Location 123995039-124045315 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 123999180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000001092] [ENSMUST00000035495] [ENSMUST00000127664]
AlphaFold Q9JL70
Predicted Effect probably benign
Transcript: ENSMUST00000001092
SMART Domains Protein: ENSMUSP00000001092
Gene: ENSMUSG00000001065

DomainStartEndE-ValueType
low complexity region 18 41 N/A INTRINSIC
low complexity region 59 72 N/A INTRINSIC
Pfam:zf-AD 79 159 1.2e-13 PFAM
low complexity region 402 422 N/A INTRINSIC
ZnF_C2H2 434 458 2.24e-3 SMART
ZnF_C2H2 465 490 6.67e-2 SMART
ZnF_C2H2 496 518 1.38e-3 SMART
ZnF_C2H2 524 546 1.82e-3 SMART
ZnF_C2H2 554 577 4.79e-3 SMART
low complexity region 586 602 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000035495
SMART Domains Protein: ENSMUSP00000045217
Gene: ENSMUSG00000032815

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 noncoding transcript
Transcript: ENSMUST00000126834
SMART Domains Protein: ENSMUSP00000116732
Gene: ENSMUSG00000032815

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
low complexity region 142 167 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 noncoding transcript
Transcript: ENSMUST00000135702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146158
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211934
Predicted Effect probably benign
Transcript: ENSMUST00000213090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155279
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155510
SMART Domains Protein: ENSMUSP00000118712
Gene: ENSMUSG00000032815

DomainStartEndE-ValueType
low complexity region 54 64 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency 100% (65/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik A G 11: 70,507,474 (GRCm39) Q173R possibly damaging Het
Ampd2 C T 3: 107,994,032 (GRCm39) probably benign Het
Ankrd17 T C 5: 90,402,658 (GRCm39) S1467G possibly damaging Het
Arhgap31 T G 16: 38,422,872 (GRCm39) S1065R possibly damaging Het
Arhgef19 G T 4: 140,977,918 (GRCm39) M542I probably benign Het
C7 T C 15: 5,044,862 (GRCm39) D392G possibly damaging Het
Ccdc138 G A 10: 58,411,645 (GRCm39) C671Y probably damaging Het
Cdh8 A G 8: 99,838,347 (GRCm39) S498P possibly damaging Het
Cpb2 T A 14: 75,495,149 (GRCm39) probably null Het
Cwc22 A C 2: 77,751,202 (GRCm39) N389K probably benign Het
Dgkb T A 12: 38,278,025 (GRCm39) L550Q probably damaging Het
Dip2c A G 13: 9,665,811 (GRCm39) R950G probably damaging Het
Eml6 A G 11: 29,798,949 (GRCm39) V437A possibly damaging Het
Fgd2 C G 17: 29,585,982 (GRCm39) L189V possibly damaging Het
Foxred2 A C 15: 77,827,590 (GRCm39) S590A possibly damaging Het
Gm1110 A G 9: 26,831,962 (GRCm39) F63S probably damaging Het
Gm14496 A T 2: 181,637,747 (GRCm39) M274L probably benign Het
Gm7008 T A 12: 40,273,559 (GRCm39) probably benign Het
Gm9922 T A 14: 101,966,989 (GRCm39) probably benign Het
Gtf3c3 A T 1: 54,467,971 (GRCm39) M222K possibly damaging Het
Hspa1b A G 17: 35,177,808 (GRCm39) V59A probably benign Het
Impg1 T C 9: 80,294,161 (GRCm39) probably benign Het
Khdc4 T C 3: 88,593,636 (GRCm39) probably benign Het
Lpcat4 T A 2: 112,073,590 (GRCm39) probably null Het
Mipol1 T C 12: 57,507,740 (GRCm39) probably benign Het
Mrpl37 C A 4: 106,923,658 (GRCm39) R112L possibly damaging Het
Myo18b T C 5: 112,957,551 (GRCm39) N1471D possibly damaging Het
Nes G A 3: 87,885,949 (GRCm39) E1359K possibly damaging Het
Nipbl A T 15: 8,391,221 (GRCm39) V251E possibly damaging Het
Nlrp1b T C 11: 71,052,591 (GRCm39) I946V possibly damaging Het
Obscn T G 11: 58,947,568 (GRCm39) probably benign Het
Or10q1b A T 19: 13,682,499 (GRCm39) T103S probably benign Het
Or4a2 T A 2: 89,248,502 (GRCm39) Y85F probably benign Het
Or51q1 T A 7: 103,628,837 (GRCm39) I146K possibly damaging Het
Or5m12 A T 2: 85,734,633 (GRCm39) M255K possibly damaging Het
Pck2 T C 14: 55,782,041 (GRCm39) probably null Het
Pcsk9 A G 4: 106,306,246 (GRCm39) probably benign Het
Phyhd1 A T 2: 30,159,834 (GRCm39) Q56L probably benign Het
Plxnc1 C T 10: 94,673,780 (GRCm39) G1001S probably null Het
Prss52 T C 14: 64,351,127 (GRCm39) V304A probably benign Het
Prss55 C T 14: 64,313,056 (GRCm39) G276D probably benign Het
Pzp A T 6: 128,496,477 (GRCm39) Y252N probably damaging Het
Rad1 T C 15: 10,490,543 (GRCm39) probably null Het
Ripply3 A T 16: 94,136,616 (GRCm39) E92D possibly damaging Het
Rpp30 T A 19: 36,081,803 (GRCm39) D255E probably benign Het
Rsad1 T C 11: 94,439,290 (GRCm39) probably benign Het
Serpini2 A G 3: 75,153,885 (GRCm39) M358T probably damaging Het
Slc35a1 T A 4: 34,664,125 (GRCm39) E331V probably benign Het
Slc38a7 A G 8: 96,572,506 (GRCm39) F179L probably damaging Het
Stmn4 C T 14: 66,593,732 (GRCm39) Q42* probably null Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tab2 G A 10: 7,794,922 (GRCm39) A520V probably benign Het
Tcp10a A G 17: 7,598,555 (GRCm39) I162M probably benign Het
Tmprss13 A G 9: 45,244,986 (GRCm39) probably benign Het
Tnfrsf14 A G 4: 155,011,054 (GRCm39) probably null Het
Tpx2 A G 2: 152,709,287 (GRCm39) probably benign Het
Vmn2r105 T A 17: 20,454,965 (GRCm39) N57I probably damaging Het
Wars1 C T 12: 108,841,119 (GRCm39) V220I probably benign Het
Washc1 T A 17: 66,423,714 (GRCm39) D212E possibly damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Wdr43 A G 17: 71,933,820 (GRCm39) D139G probably benign Het
Zfp235 A T 7: 23,836,556 (GRCm39) H34L possibly damaging Het
Zkscan16 G A 4: 58,952,391 (GRCm39) V230I probably benign 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
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
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'- AGTCTCCTTAAACAGGCCAGCCAG -3'
(R):5'- TTGCACAGCACTGTGACGTGAG -3'

Sequencing Primer
(F):5'- GTACTCAGAGGATGCCCATAGAC -3'
(R):5'- ACTGTGACGTGAGCCGTG -3'
Posted On 2013-05-09