Incidental Mutation 'R9542:Fanca'
ID 719937
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 # R9542 (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 G at 124023078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 553 (V553A)
Ref Sequence ENSEMBL: ENSMUSP00000045217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035495] [ENSMUST00000127664] [ENSMUST00000127904]
AlphaFold Q9JL70
Predicted Effect probably damaging
Transcript: ENSMUST00000035495
AA Change: V553A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045217
Gene: ENSMUSG00000032815
AA Change: V553A

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: 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: V455A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116614
Gene: ENSMUSG00000032815
AA Change: V455A

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: 99.3%
  • 20x: 97.4%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 T C 1: 155,443,356 (GRCm39) S105P probably benign Het
Acot12 G A 13: 91,931,110 (GRCm39) V453M probably damaging Het
Actr2 C T 11: 20,044,350 (GRCm39) M85I probably benign Het
Anxa9 T C 3: 95,210,379 (GRCm39) D62G probably benign Het
Arnt C T 3: 95,397,954 (GRCm39) A599V probably benign Het
Ash1l A G 3: 88,950,566 (GRCm39) E2153G probably damaging Het
Asic5 A T 3: 81,911,850 (GRCm39) T149S probably benign Het
Atcay G A 10: 81,043,686 (GRCm39) T353I unknown Het
Aven T C 2: 112,455,517 (GRCm39) F143L probably damaging Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
BC024139 T A 15: 76,009,715 (GRCm39) L149F probably damaging Het
C3 T C 17: 57,532,037 (GRCm39) Y228C probably damaging Het
Cacna1d A G 14: 29,845,316 (GRCm39) F640L probably benign Het
Ccdc187 T C 2: 26,145,930 (GRCm39) R1220G possibly damaging Het
Cdc42bpb G A 12: 111,268,508 (GRCm39) Q1231* probably null Het
Cdh20 T A 1: 104,875,067 (GRCm39) V283E probably damaging Het
Cep63 T C 9: 102,484,533 (GRCm39) I241V probably benign Het
Dis3 A G 14: 99,316,975 (GRCm39) V787A probably damaging Het
Dock9 A G 14: 121,864,775 (GRCm39) F727S probably damaging Het
Eif5b G T 1: 38,057,131 (GRCm39) E63* probably null Het
Flacc1 C T 1: 58,717,504 (GRCm39) A136T probably benign Het
Gm37240 A C 3: 84,417,196 (GRCm39) H174Q probably benign Het
Kcnc4 C T 3: 107,365,571 (GRCm39) W212* probably null Het
Myh2 G A 11: 67,072,002 (GRCm39) E577K possibly damaging Het
Ncoa1 C T 12: 4,325,178 (GRCm39) V967I possibly damaging Het
Nmur2 T C 11: 55,931,649 (GRCm39) T21A probably damaging Het
Nrde2 A G 12: 100,110,426 (GRCm39) C197R probably damaging Het
Or2m12 A T 16: 19,104,943 (GRCm39) D183E probably benign Het
Or2o1 C A 11: 49,051,073 (GRCm39) C77* probably null Het
Or52ad1 T C 7: 102,995,569 (GRCm39) I189V probably benign Het
Or8h7 G T 2: 86,720,813 (GRCm39) H235Q probably benign Het
Pard3b C T 1: 62,250,786 (GRCm39) R572* probably null Het
Pdcd6ip T C 9: 113,520,589 (GRCm39) S132G probably damaging Het
Pdzrn3 A T 6: 101,149,235 (GRCm39) F364L probably benign Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Pgr G T 9: 8,901,532 (GRCm39) C355F possibly damaging Het
Pkhd1 T G 1: 20,188,004 (GRCm39) S3435R probably damaging Het
Pkhd1l1 A G 15: 44,410,284 (GRCm39) D2597G probably benign Het
Pramel30 T C 4: 144,057,095 (GRCm39) Y93H possibly damaging Het
Prrc2c T C 1: 162,508,359 (GRCm39) E2410G possibly damaging Het
Rpap2 C G 5: 107,768,180 (GRCm39) S339R probably benign Het
Rrp36 G C 17: 46,983,492 (GRCm39) R69G possibly damaging Het
Rrp8 T C 7: 105,382,606 (GRCm39) T449A probably benign Het
Scn3a T C 2: 65,366,860 (GRCm39) D54G probably damaging Het
Serinc2 C T 4: 130,152,516 (GRCm39) W228* probably null Het
Serpinb9g A G 13: 33,679,141 (GRCm39) K337R probably benign Het
Slc28a2b A T 2: 122,324,822 (GRCm39) K131N probably benign Het
Spata31 A T 13: 65,070,077 (GRCm39) I742F probably damaging Het
Speg C T 1: 75,399,426 (GRCm39) P2291L probably benign Het
Ss18l2 T A 9: 121,541,666 (GRCm39) L61* probably null Het
Suco C T 1: 161,661,668 (GRCm39) R921H probably damaging Het
Taok2 A T 7: 126,466,008 (GRCm39) I910N probably damaging Het
Tmem18 G A 12: 30,638,557 (GRCm39) M106I Het
Tob1 T G 11: 94,105,234 (GRCm39) S257A unknown Het
Trim67 G C 8: 125,521,497 (GRCm39) K286N possibly damaging Het
Trmt112 A G 19: 6,887,956 (GRCm39) N62S probably benign Het
Tsc2 C T 17: 24,819,308 (GRCm39) probably null Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Ube2j1 G T 4: 33,040,793 (GRCm39) E100* probably null Het
Urgcp A T 11: 5,667,517 (GRCm39) F317I possibly damaging Het
Vps9d1 A T 8: 123,970,522 (GRCm39) D588E probably damaging Het
Wdr38 A T 2: 38,890,210 (GRCm39) T115S probably damaging Het
Zfp119a G A 17: 56,172,593 (GRCm39) Q417* probably null Het
Zfp687 C T 3: 94,916,442 (GRCm39) C860Y probably damaging Het
Zmym4 T C 4: 126,799,164 (GRCm39) N724S 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
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
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'- ATCCCCATGTGACCTTGAGAG -3'
(R):5'- AATGTTCTAGGCTGAATGGTGC -3'

Sequencing Primer
(F):5'- TAAAGTACTGCCGGCATGG -3'
(R):5'- GCTGAATGGTGCCCATCTCAC -3'
Posted On 2022-07-18