Incidental Mutation 'R5806:Fanci'
ID 448507
Institutional Source Beutler Lab
Gene Symbol Fanci
Ensembl Gene ENSMUSG00000039187
Gene Name Fanconi anemia, complementation group I
Synonyms
MMRRC Submission 043392-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.625) question?
Stock # R5806 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 79042056-79100013 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79098596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1249 (I1249T)
Ref Sequence ENSEMBL: ENSMUSP00000044931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036865] [ENSMUST00000073889] [ENSMUST00000132048] [ENSMUST00000132091] [ENSMUST00000139290] [ENSMUST00000201907] [ENSMUST00000149444]
AlphaFold Q8K368
PDB Structure Structure of the FANCI-FANCD2 complex [X-RAY DIFFRACTION]
Structure of a Y DNA-FANCI complex [X-RAY DIFFRACTION]
Structure of FANCI [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000036865
AA Change: I1249T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044931
Gene: ENSMUSG00000039187
AA Change: I1249T

DomainStartEndE-ValueType
Pfam:FANCI_S1-cap 1 53 7.5e-27 PFAM
Pfam:FANCI_S1 62 280 3.5e-78 PFAM
Pfam:FANCI_HD1 284 370 1.6e-37 PFAM
Pfam:FANCI_S2 378 540 2.4e-63 PFAM
Pfam:FANCI_HD2 554 785 4.8e-87 PFAM
Pfam:FANCI_S3 803 1028 1.7e-83 PFAM
Pfam:FANCI_S4 1041 1295 1.3e-95 PFAM
low complexity region 1299 1307 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073889
SMART Domains Protein: ENSMUSP00000073551
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
low complexity region 131 149 N/A INTRINSIC
low complexity region 478 493 N/A INTRINSIC
POLAc 849 1123 2.23e-107 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117227
AA Change: I1244T

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112383
Gene: ENSMUSG00000039187
AA Change: I1244T

DomainStartEndE-ValueType
Pfam:FANCI_S1-cap 1 53 4.5e-29 PFAM
Pfam:FANCI_S1 60 281 2.9e-80 PFAM
Pfam:FANCI_HD1 284 371 5.2e-37 PFAM
Pfam:FANCI_S2 377 541 2.8e-56 PFAM
Pfam:FANCI_HD2 551 786 2.8e-99 PFAM
Pfam:FANCI_S3 803 1029 1.3e-90 PFAM
Pfam:FANCI_S4 1039 1292 1.4e-106 PFAM
low complexity region 1294 1302 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127082
Predicted Effect probably benign
Transcript: ENSMUST00000132048
SMART Domains Protein: ENSMUSP00000143933
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
PDB:3IKM|D 53 203 2e-71 PDB
SCOP:d1qm9a1 76 122 3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132091
SMART Domains Protein: ENSMUSP00000122113
Gene: ENSMUSG00000039187

DomainStartEndE-ValueType
Pfam:FANCI_S1-cap 1 53 1.6e-29 PFAM
Pfam:FANCI_S1 60 281 3.2e-81 PFAM
Pfam:FANCI_HD1 284 371 2.9e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139290
SMART Domains Protein: ENSMUSP00000144035
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
PDB:3IKM|D 1 69 2e-41 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000206121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145154
Predicted Effect probably benign
Transcript: ENSMUST00000201030
Predicted Effect probably benign
Transcript: ENSMUST00000201662
Predicted Effect probably benign
Transcript: ENSMUST00000201907
SMART Domains Protein: ENSMUSP00000144084
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
Blast:POLAc 1 49 4e-24 BLAST
PDB:3IKM|D 1 50 6e-24 PDB
SCOP:d1t7pa2 21 49 3e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149444
SMART Domains Protein: ENSMUSP00000119616
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
PDB:3IKM|D 53 490 N/A PDB
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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 I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,388,731 (GRCm39) M216T probably benign Het
Abhd4 A G 14: 54,499,147 (GRCm39) N36D probably benign Het
Ankra2 T C 13: 98,405,005 (GRCm39) probably null Het
Btd A G 14: 31,389,469 (GRCm39) T397A probably benign Het
Ccbe1 T A 18: 66,209,426 (GRCm39) K205* probably null Het
Clspn A G 4: 126,479,899 (GRCm39) K1081E probably damaging Het
Cmya5 A G 13: 93,230,445 (GRCm39) S1548P possibly damaging Het
Coq8b T A 7: 26,950,050 (GRCm39) Y376* probably null Het
Cpxm1 C A 2: 130,239,393 (GRCm39) A12S probably damaging Het
Cttn T C 7: 144,015,005 (GRCm39) T68A probably damaging Het
Cyp2a12 T A 7: 26,728,504 (GRCm39) probably null Het
Ddx46 A G 13: 55,811,150 (GRCm39) Q582R possibly damaging Het
Ddx55 A G 5: 124,697,262 (GRCm39) E208G probably damaging Het
Dnaaf4 T C 9: 72,869,336 (GRCm39) L182P probably benign Het
Dync1h1 A T 12: 110,618,087 (GRCm39) T3209S probably damaging Het
Ep400 A T 5: 110,903,420 (GRCm39) L393* probably null Het
Ern1 G C 11: 106,289,531 (GRCm39) S924C probably damaging Het
Fgfbp3 T G 19: 36,895,949 (GRCm39) D223A probably damaging Het
Frmd6 T C 12: 70,936,794 (GRCm39) L313P probably damaging Het
Galnt17 A G 5: 130,906,657 (GRCm39) Y504H probably damaging Het
Gjb5 A G 4: 127,249,718 (GRCm39) I142T probably benign Het
Gvin1 T C 7: 105,757,413 (GRCm39) D2352G probably benign Het
H2-M2 G A 17: 37,792,617 (GRCm39) T218I probably damaging Het
Hal A G 10: 93,326,846 (GRCm39) T161A probably damaging Het
Helb G A 10: 119,928,424 (GRCm39) R806C probably damaging Het
Ift80 T A 3: 68,857,809 (GRCm39) I279F probably benign Het
Itln1 A T 1: 171,358,720 (GRCm39) I149N possibly damaging Het
Kcnt2 A C 1: 140,437,234 (GRCm39) T556P probably damaging Het
Klk1b22 A T 7: 43,765,301 (GRCm39) E84D possibly damaging Het
Krt78 A G 15: 101,858,937 (GRCm39) L305P probably damaging Het
Lzts2 T C 19: 45,014,806 (GRCm39) probably benign Het
Macf1 A G 4: 123,265,680 (GRCm39) L6843P probably damaging Het
Magi2 C A 5: 20,856,202 (GRCm39) H841Q probably benign Het
Mdm1 A T 10: 118,002,563 (GRCm39) H628L probably benign Het
Med23 A G 10: 24,783,119 (GRCm39) D734G probably damaging Het
Mfsd13a T C 19: 46,354,849 (GRCm39) W9R probably benign Het
Mki67 T C 7: 135,306,334 (GRCm39) H576R probably damaging Het
Muc5b A G 7: 141,416,572 (GRCm39) T3173A possibly damaging Het
Mx1 A T 16: 97,255,351 (GRCm39) V234E possibly damaging Het
Myh2 T C 11: 67,072,141 (GRCm39) L623P probably damaging Het
Naip1 C T 13: 100,581,243 (GRCm39) M1I probably null Het
Ncapd2 A T 6: 125,158,117 (GRCm39) V337E probably damaging Het
Nit2 G A 16: 56,982,056 (GRCm39) T64M possibly damaging Het
Or1e34 A T 11: 73,778,373 (GRCm39) M275K probably damaging Het
Or4c103 T C 2: 88,513,495 (GRCm39) N194D probably damaging Het
Or6e1 A T 14: 54,520,264 (GRCm39) F29L probably benign Het
Otub2 A G 12: 103,369,656 (GRCm39) E245G probably benign Het
Pde8b T C 13: 95,178,548 (GRCm39) K524R probably damaging Het
Pih1d2 C T 9: 50,529,750 (GRCm39) probably benign Het
Pik3cg T A 12: 32,254,952 (GRCm39) D345V possibly damaging Het
Plekhg4 A T 8: 106,105,542 (GRCm39) Q669L possibly damaging Het
Prlr A T 15: 10,319,290 (GRCm39) Y73F probably damaging Het
Ptk6 T C 2: 180,841,523 (GRCm39) I129V possibly damaging Het
Ranbp3 A T 17: 57,017,717 (GRCm39) T458S probably benign Het
Ren1 T A 1: 133,283,249 (GRCm39) Y128* probably null Het
Rimkla A T 4: 119,325,663 (GRCm39) S249T probably damaging Het
Rnf222 T C 11: 68,783,789 (GRCm39) S119P possibly damaging Het
Rrbp1 T A 2: 143,805,251 (GRCm39) E1007V probably benign Het
Septin11 G A 5: 93,315,437 (GRCm39) E389K probably benign Het
Setbp1 A G 18: 78,899,697 (GRCm39) probably null Het
Slc25a54 T C 3: 108,987,894 (GRCm39) S12P probably benign Het
Slc26a5 A C 5: 22,028,561 (GRCm39) F336V probably damaging Het
Slc5a6 T C 5: 31,198,114 (GRCm39) T254A probably damaging Het
Smcr8 G T 11: 60,671,208 (GRCm39) probably null Het
Srcap A T 7: 127,158,335 (GRCm39) probably benign Het
Srrt A T 5: 137,296,179 (GRCm39) I509N probably damaging Het
Tcf25 T A 8: 124,108,243 (GRCm39) H99Q probably benign Het
Tmem40 A G 6: 115,713,373 (GRCm39) V76A probably benign Het
Tnni3k A T 3: 154,533,248 (GRCm39) S740T possibly damaging Het
Top3a A G 11: 60,667,746 (GRCm39) probably null Het
Tpd52l2 C A 2: 181,144,680 (GRCm39) T109K probably damaging Het
Tsnaxip1 C A 8: 106,564,128 (GRCm39) D109E possibly damaging Het
Uty G T Y: 1,170,921 (GRCm39) D313E probably damaging Het
Zfp143 A T 7: 109,685,442 (GRCm39) K423* probably null Het
Zfp407 C T 18: 84,576,739 (GRCm39) G1458D probably damaging Het
Other mutations in Fanci
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00717:Fanci APN 7 79,062,448 (GRCm39) missense probably damaging 1.00
IGL00718:Fanci APN 7 79,093,922 (GRCm39) missense possibly damaging 0.92
IGL00764:Fanci APN 7 79,045,660 (GRCm39) start codon destroyed probably null 0.05
IGL01669:Fanci APN 7 79,098,925 (GRCm39) missense probably benign 0.01
IGL02338:Fanci APN 7 79,083,279 (GRCm39) nonsense probably null
IGL02428:Fanci APN 7 79,094,264 (GRCm39) intron probably benign
IGL03029:Fanci APN 7 79,093,747 (GRCm39) missense probably benign 0.00
BB005:Fanci UTSW 7 79,094,459 (GRCm39) missense probably benign
BB015:Fanci UTSW 7 79,094,459 (GRCm39) missense probably benign
P0023:Fanci UTSW 7 79,052,048 (GRCm39) missense probably benign 0.00
P0047:Fanci UTSW 7 79,093,792 (GRCm39) missense probably damaging 1.00
R0310:Fanci UTSW 7 79,057,165 (GRCm39) splice site probably benign
R0388:Fanci UTSW 7 79,089,378 (GRCm39) missense probably benign
R0506:Fanci UTSW 7 79,081,926 (GRCm39) missense probably benign 0.29
R0570:Fanci UTSW 7 79,093,711 (GRCm39) missense probably damaging 1.00
R0631:Fanci UTSW 7 79,055,953 (GRCm39) missense probably damaging 1.00
R0746:Fanci UTSW 7 79,089,429 (GRCm39) missense probably damaging 0.99
R0981:Fanci UTSW 7 79,054,914 (GRCm39) missense probably benign 0.01
R1559:Fanci UTSW 7 79,082,941 (GRCm39) missense probably damaging 1.00
R1656:Fanci UTSW 7 79,054,936 (GRCm39) splice site probably benign
R1748:Fanci UTSW 7 79,080,236 (GRCm39) missense probably damaging 1.00
R1815:Fanci UTSW 7 79,088,056 (GRCm39) missense probably damaging 1.00
R2164:Fanci UTSW 7 79,045,743 (GRCm39) missense probably benign 0.22
R3508:Fanci UTSW 7 79,083,220 (GRCm39) missense probably benign 0.01
R3908:Fanci UTSW 7 79,083,257 (GRCm39) missense possibly damaging 0.91
R4036:Fanci UTSW 7 79,094,570 (GRCm39) missense probably damaging 1.00
R4066:Fanci UTSW 7 79,062,505 (GRCm39) critical splice donor site probably null
R4633:Fanci UTSW 7 79,076,990 (GRCm39) missense probably damaging 1.00
R4651:Fanci UTSW 7 79,085,004 (GRCm39) missense possibly damaging 0.74
R4993:Fanci UTSW 7 79,085,126 (GRCm39) makesense probably null
R5341:Fanci UTSW 7 79,055,926 (GRCm39) missense probably damaging 1.00
R5898:Fanci UTSW 7 79,083,069 (GRCm39) missense probably benign
R5919:Fanci UTSW 7 79,094,486 (GRCm39) missense probably damaging 1.00
R5960:Fanci UTSW 7 79,093,510 (GRCm39) missense probably damaging 1.00
R6367:Fanci UTSW 7 79,075,943 (GRCm39) missense probably damaging 0.99
R6436:Fanci UTSW 7 79,090,446 (GRCm39) missense probably benign 0.03
R6468:Fanci UTSW 7 79,067,687 (GRCm39) missense probably benign 0.10
R6508:Fanci UTSW 7 79,093,516 (GRCm39) missense probably damaging 0.99
R6886:Fanci UTSW 7 79,070,090 (GRCm39) missense possibly damaging 0.81
R7554:Fanci UTSW 7 79,062,500 (GRCm39) missense probably damaging 0.99
R7588:Fanci UTSW 7 79,084,017 (GRCm39) missense possibly damaging 0.81
R7644:Fanci UTSW 7 79,094,219 (GRCm39) nonsense probably null
R7697:Fanci UTSW 7 79,056,040 (GRCm39) critical splice donor site probably null
R7732:Fanci UTSW 7 79,062,400 (GRCm39) missense possibly damaging 0.65
R7928:Fanci UTSW 7 79,094,459 (GRCm39) missense probably benign
R8170:Fanci UTSW 7 79,083,305 (GRCm39) splice site probably null
R8355:Fanci UTSW 7 79,085,029 (GRCm39) missense probably damaging 1.00
R8425:Fanci UTSW 7 79,083,289 (GRCm39) missense probably benign 0.07
R8429:Fanci UTSW 7 79,088,133 (GRCm39) missense possibly damaging 0.65
R8455:Fanci UTSW 7 79,085,029 (GRCm39) missense probably damaging 1.00
R8720:Fanci UTSW 7 79,089,425 (GRCm39) missense possibly damaging 0.92
R8786:Fanci UTSW 7 79,052,298 (GRCm39) missense probably benign 0.02
R8946:Fanci UTSW 7 79,045,726 (GRCm39) missense probably benign 0.03
R8986:Fanci UTSW 7 79,095,472 (GRCm39) missense probably benign 0.03
R9213:Fanci UTSW 7 79,055,971 (GRCm39) missense possibly damaging 0.70
R9333:Fanci UTSW 7 79,067,594 (GRCm39) missense possibly damaging 0.47
R9485:Fanci UTSW 7 79,089,405 (GRCm39) missense probably benign 0.10
R9508:Fanci UTSW 7 79,083,033 (GRCm39) missense possibly damaging 0.89
R9624:Fanci UTSW 7 79,085,117 (GRCm39) missense probably benign 0.12
R9649:Fanci UTSW 7 79,076,954 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGACTCGGGAAACTACACAG -3'
(R):5'- GGAGGACCCTTTGCTTTTACC -3'

Sequencing Primer
(F):5'- GTGACTCGGGAAACTACACAGTATAC -3'
(R):5'- GAGGACCCTTTGCTTTTACCAGATG -3'
Posted On 2016-12-15