Mutagenetix > Incidental Mutation

Incidental Mutation 'P0047:Fanci'

7740

Institutional Source

Beutler Lab

Gene Symbol

Fanci

Ensembl Gene

ENSMUSG00000039187

Gene Name

Fanconi anemia, complementation group I

Synonyms

MMRRC Submission

038294-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.625) question?

Stock #

P0047 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

79042056-79100013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79093792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1048 (D1048G)

Ref Sequence

ENSEMBL: ENSMUSP00000044931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036865] [ENSMUST00000073889] [ENSMUST00000132091]

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: D1048G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044931
Gene: ENSMUSG00000039187
AA Change: D1048G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000132091

SMART Domains

Protein: ENSMUSP00000122113
Gene: ENSMUSG00000039187

Domain	Start	End	E-Value	Type
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: D76G

Meta Mutation Damage Score

0.7897

Coding Region Coverage

1x: 81.2%
3x: 73.1%
10x: 47.2%
20x: 24.0%

Validation Efficiency

83% (73/88)

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap20	T	C	9: 51,760,536 (GRCm39)	S760P	probably damaging	Het
Cenatac	T	A	9: 44,324,506 (GRCm39)		probably benign	Het
Defa22	C	A	8: 21,653,102 (GRCm39)	C71*	probably null	Het
Kmt5b	T	A	19: 3,843,223 (GRCm39)		probably benign	Het
Nol8	T	A	13: 49,807,824 (GRCm39)		probably null	Het
Nvl	T	C	1: 180,939,867 (GRCm39)	T628A	probably damaging	Het
Pgm5	T	A	19: 24,793,785 (GRCm39)	D293V	probably damaging	Het
Pms2	A	G	5: 143,856,416 (GRCm39)	D7G	probably damaging	Het
Srrm3	G	A	5: 135,881,780 (GRCm39)		probably null	Het
Stradb	G	A	1: 59,028,957 (GRCm39)	G142S	probably null	Het
Txndc11	C	T	16: 10,909,661 (GRCm39)		probably benign	Het

Other mutations in Fanci

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2012-10-29