Incidental Mutation 'R7153:Fanca'
ID 554262
Institutional Source Beutler Lab
Gene Symbol Fanca
Ensembl Gene ENSMUSG00000032815
Gene Name Fanconi anemia, complementation group A
Synonyms
MMRRC Submission 045255-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.714) question?
Stock # R7153 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 123995039-124045315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124043164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 74 (L74H)
Ref Sequence ENSEMBL: ENSMUSP00000045217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035495] [ENSMUST00000118395] [ENSMUST00000127664] [ENSMUST00000127904]
AlphaFold Q9JL70
Predicted Effect probably damaging
Transcript: ENSMUST00000035495
AA Change: L74H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045217
Gene: ENSMUSG00000032815
AA Change: L74H

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: L74H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113125
Gene: ENSMUSG00000032815
AA Change: L74H

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 benign
Transcript: ENSMUST00000127904
SMART Domains Protein: ENSMUSP00000116614
Gene: ENSMUSG00000032815

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: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano2 A G 6: 125,969,906 (GRCm39) T741A possibly damaging Het
Aox4 T C 1: 58,289,378 (GRCm39) M767T probably damaging Het
Arhgap39 C A 15: 76,649,691 (GRCm39) S27I probably benign Het
AU018091 T A 7: 3,209,353 (GRCm39) M296L probably benign Het
Axin1 A G 17: 26,406,942 (GRCm39) T512A probably benign Het
B4galnt3 A T 6: 120,191,929 (GRCm39) D602E probably benign Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Bsnd A T 4: 106,349,230 (GRCm39) D3E probably benign Het
Btbd18 C T 2: 84,496,772 (GRCm39) R137* probably null Het
C2cd5 A G 6: 142,965,135 (GRCm39) S871P probably benign Het
Cobl G T 11: 12,204,128 (GRCm39) P858Q probably damaging Het
Col6a1 C T 10: 76,546,175 (GRCm39) probably null Het
Crb2 A T 2: 37,677,420 (GRCm39) H304L probably benign Het
Crybg1 T A 10: 43,840,662 (GRCm39) Y1812F possibly damaging Het
Ddx60 A T 8: 62,441,142 (GRCm39) K1070N possibly damaging Het
Defb22 T C 2: 152,327,840 (GRCm39) K115R unknown Het
Dhx8 C T 11: 101,631,001 (GRCm39) probably null Het
Dnah5 T A 15: 28,365,668 (GRCm39) probably null Het
Dnah7b T A 1: 46,165,964 (GRCm39) F543Y probably benign Het
Ehhadh A G 16: 21,585,071 (GRCm39) F270S probably damaging Het
Esyt2 A G 12: 116,310,128 (GRCm39) M397V probably benign Het
Fbxl17 C A 17: 63,367,346 (GRCm39) V676F probably benign Het
Fndc1 A G 17: 8,020,477 (GRCm39) V102A probably damaging Het
Gpalpp1 T C 14: 76,332,451 (GRCm39) Y273C probably damaging Het
Gpatch8 TTCCTCCTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC 11: 102,371,014 (GRCm39) probably benign Het
Grik2 T C 10: 49,411,463 (GRCm39) H225R probably benign Het
Helz2 A T 2: 180,873,078 (GRCm39) S2411T probably benign Het
Hnmt C T 2: 23,904,353 (GRCm39) A103T probably damaging Het
Ighv15-2 G T 12: 114,528,210 (GRCm39) Y114* probably null Het
Irak2 A G 6: 113,655,670 (GRCm39) H357R probably benign Het
Kcp T C 6: 29,499,014 (GRCm39) E320G probably damaging Het
Kpna4 A G 3: 68,997,131 (GRCm39) L352S probably damaging Het
Krt36 G A 11: 99,995,972 (GRCm39) Q151* probably null Het
Krt77 G A 15: 101,773,931 (GRCm39) T241M probably benign Het
Lca5l T A 16: 95,975,009 (GRCm39) N305I probably damaging Het
Lefty1 T A 1: 180,765,332 (GRCm39) L300Q probably benign Het
Mertk A G 2: 128,578,569 (GRCm39) Y185C probably damaging Het
Mmp14 T C 14: 54,673,708 (GRCm39) I124T possibly damaging Het
Nlrc4 T C 17: 74,754,098 (GRCm39) E95G possibly damaging Het
Npc1 A G 18: 12,346,348 (GRCm39) F283L possibly damaging Het
Or4k38 A T 2: 111,166,246 (GRCm39) M59K probably damaging Het
Or4p19 A C 2: 88,242,462 (GRCm39) L180W probably damaging Het
Pcdha11 T C 18: 37,144,278 (GRCm39) V123A probably damaging Het
Pcdhga2 T C 18: 37,802,261 (GRCm39) V35A probably damaging Het
Pgd G T 4: 149,246,135 (GRCm39) T94K probably benign Het
Pik3c2a T C 7: 115,941,487 (GRCm39) N1593S probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plcb3 A G 19: 6,935,452 (GRCm39) probably null Het
Prkd3 C T 17: 79,273,784 (GRCm39) D491N probably benign Het
Ptprf T C 4: 118,088,740 (GRCm39) T688A probably damaging Het
Pycr2 T A 1: 180,734,247 (GRCm39) L210M probably damaging Het
Rpl36 T C 17: 56,921,137 (GRCm39) I81T probably benign Het
Rraga C T 4: 86,494,253 (GRCm39) A33V probably damaging Het
Slc29a1 G A 17: 45,896,688 (GRCm39) A429V probably damaging Het
Stab1 T G 14: 30,882,541 (GRCm39) E432A probably benign Het
Synj1 C T 16: 90,744,978 (GRCm39) G1189R probably benign Het
Synpo2 A G 3: 122,906,053 (GRCm39) *1088Q probably null Het
Tbc1d21 T C 9: 58,270,376 (GRCm39) D133G probably damaging Het
Tenm2 A G 11: 35,915,009 (GRCm39) V2176A probably damaging Het
Tff1 A G 17: 31,381,772 (GRCm39) I35T probably benign Het
Thnsl1 T C 2: 21,217,764 (GRCm39) V506A possibly damaging Het
Timm10b A G 7: 105,290,087 (GRCm39) Q50R unknown Het
Tjp2 A T 19: 24,079,345 (GRCm39) N843K probably benign Het
Tle1 A T 4: 72,057,298 (GRCm39) F101I probably benign Het
Tmem225 T C 9: 40,059,664 (GRCm39) F15L probably benign Het
Trav12-3 T C 14: 53,859,618 (GRCm39) L88P probably benign Het
Ttc7b A T 12: 100,321,293 (GRCm39) W613R probably damaging Het
Ttn T A 2: 76,608,848 (GRCm39) M17723L probably benign Het
Ttn T C 2: 76,775,660 (GRCm39) D1840G unknown Het
Tubgcp2 T C 7: 139,580,949 (GRCm39) H668R probably benign Het
Ush2a C A 1: 188,460,681 (GRCm39) N2647K possibly damaging Het
Vmn1r14 C T 6: 57,210,851 (GRCm39) S143F probably benign Het
Vmn2r70 A G 7: 85,214,262 (GRCm39) S297P probably damaging Het
Ywhab T C 2: 163,855,980 (GRCm39) F119L probably damaging Het
Zmym2 T A 14: 57,187,659 (GRCm39) D1108E 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
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'- AAGGGCATTGTCAGGTGGAATC -3'
(R):5'- ACTGAAGGGTAGGTCATTGC -3'

Sequencing Primer
(F):5'- CTGAATGTCTACGGACTGTAACAG -3'
(R):5'- ATTGCTAGAGGTCACTCAGC -3'
Posted On 2019-05-15