Incidental Mutation 'R5919:Fanci'
ID 462564
Institutional Source Beutler Lab
Gene Symbol Fanci
Ensembl Gene ENSMUSG00000039187
Gene Name Fanconi anemia, complementation group I
Synonyms
MMRRC Submission 044116-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.651) question?
Stock # R5919 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 79042056-79100013 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79094486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1139 (L1139P)
Ref Sequence ENSEMBL: ENSMUSP00000044931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036865] [ENSMUST00000073889] [ENSMUST00000132048] [ENSMUST00000132091] [ENSMUST00000139290] [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: L1139P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044931
Gene: ENSMUSG00000039187
AA Change: L1139P

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 probably damaging
Transcript: ENSMUST00000117227
AA Change: L1134P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112383
Gene: ENSMUSG00000039187
AA Change: L1134P

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 unknown
Transcript: ENSMUST00000206121
AA Change: W107R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154403
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: ENSMUST00000201662
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
Meta Mutation Damage Score 0.9422 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (68/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik T C 1: 151,791,249 (GRCm39) D104G probably damaging Het
6030458C11Rik A T 15: 12,823,754 (GRCm39) H40Q probably damaging Het
Abcc3 A G 11: 94,248,132 (GRCm39) V1156A possibly damaging Het
Adgrl1 G T 8: 84,659,239 (GRCm39) D648Y probably damaging Het
Adgrl3 C A 5: 81,794,417 (GRCm39) D547E probably benign Het
Aebp1 A T 11: 5,821,421 (GRCm39) M607L probably benign Het
Angptl1 T C 1: 156,686,116 (GRCm39) Y401H probably damaging Het
Arl4d A G 11: 101,557,962 (GRCm39) T163A probably benign Het
Bltp2 A T 11: 78,180,176 (GRCm39) N2152I probably damaging Het
Camk2b A G 11: 5,929,718 (GRCm39) S331P probably damaging Het
Ccdc15 C T 9: 37,231,692 (GRCm39) probably null Het
Ccdc168 T C 1: 44,096,146 (GRCm39) N1651D probably benign Het
Ccdc38 A T 10: 93,414,700 (GRCm39) I370F possibly damaging Het
Clstn1 A T 4: 149,719,703 (GRCm39) H416L probably damaging Het
Col12a1 C T 9: 79,509,580 (GRCm39) R3030H probably damaging Het
Cop1 T A 1: 159,147,294 (GRCm39) V540E probably damaging Het
Crebbp C T 16: 3,925,991 (GRCm39) R710H probably damaging Het
Dsel T C 1: 111,787,983 (GRCm39) I851V probably benign Het
Esrp1 A G 4: 11,344,146 (GRCm39) V642A probably damaging Het
Fat1 T C 8: 45,479,910 (GRCm39) probably null Het
Fsip2 A G 2: 82,822,953 (GRCm39) N6229D possibly damaging Het
Garin5b T C 7: 4,773,385 (GRCm39) E144G possibly damaging Het
Gas2l3 G A 10: 89,252,917 (GRCm39) R243W probably damaging Het
Hectd1 G A 12: 51,815,855 (GRCm39) R1406W probably damaging Het
Hecw2 T C 1: 53,976,249 (GRCm39) H180R probably damaging Het
Ift172 T A 5: 31,418,006 (GRCm39) Q1261L possibly damaging Het
Il17rd T C 14: 26,818,001 (GRCm39) V230A probably damaging Het
Kif17 A T 4: 137,997,202 (GRCm39) I42F probably damaging Het
Kif24 T C 4: 41,394,477 (GRCm39) K799E possibly damaging Het
Lrp4 A T 2: 91,303,552 (GRCm39) I84F probably damaging Het
Mplkipl1 T C 19: 61,163,907 (GRCm39) Y176C probably damaging Het
Mroh7 T C 4: 106,551,509 (GRCm39) probably null Het
Ms4a14 C A 19: 11,291,661 (GRCm39) V13F possibly damaging Het
Muc2 T A 7: 141,281,171 (GRCm39) V445D probably damaging Het
Muc6 A T 7: 141,227,837 (GRCm39) M1317K possibly damaging Het
Myof T A 19: 38,012,818 (GRCm39) D39V possibly damaging Het
Ndufaf1 A C 2: 119,490,709 (GRCm39) V117G possibly damaging Het
Ndufs1 C G 1: 63,182,991 (GRCm39) *728S probably null Het
Nup188 A T 2: 30,229,906 (GRCm39) N1375Y probably damaging Het
Oasl1 T A 5: 115,066,329 (GRCm39) I149N probably damaging Het
Or9i16 A G 19: 13,865,209 (GRCm39) Y122H probably damaging Het
Pelo C A 13: 115,225,845 (GRCm39) C204F possibly damaging Het
Phf11d A C 14: 59,593,712 (GRCm39) probably benign Het
Rars2 T C 4: 34,657,232 (GRCm39) L526P probably damaging Het
Rrp1 A G 10: 78,241,422 (GRCm39) L177P probably damaging Het
S100a9 A G 3: 90,602,495 (GRCm39) L33P probably damaging Het
Slc4a7 A G 14: 14,791,092 (GRCm38) D1045G probably benign Het
Slc9a3 C T 13: 74,306,859 (GRCm39) T328I probably damaging Het
Spata6 A G 4: 111,636,405 (GRCm39) D232G probably damaging Het
Taar6 A T 10: 23,861,168 (GRCm39) I126N probably damaging Het
Tmeff2 C A 1: 51,171,311 (GRCm39) C182* probably null Het
Tmem178 T A 17: 81,297,187 (GRCm39) C190S probably damaging Het
Trerf1 T G 17: 47,634,208 (GRCm39) noncoding transcript Het
Trgv6 A G 13: 19,374,782 (GRCm39) Y16C probably benign Het
Ubn2 A G 6: 38,468,423 (GRCm39) I1046V possibly damaging Het
Vmn1r221 A T 13: 23,401,466 (GRCm39) noncoding transcript Het
Vmn2r2 T C 3: 64,044,723 (GRCm39) N141S probably benign Het
Zfp64 T A 2: 168,768,419 (GRCm39) N398Y probably benign Het
Zfp787 T G 7: 6,135,834 (GRCm39) Q139P 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
R5806:Fanci UTSW 7 79,098,596 (GRCm39) missense probably damaging 0.97
R5898:Fanci UTSW 7 79,083,069 (GRCm39) missense probably benign
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'- AGGCCACCAAAATGTCAGTG -3'
(R):5'- AGAGGCACTGTGAATCTGGC -3'

Sequencing Primer
(F):5'- ATGTCAGTGCGAACCATTGC -3'
(R):5'- ATCTGGCCTGTGGGAACAG -3'
Posted On 2017-02-28