Mutagenetix > Incidental Mutation

Incidental Mutation 'R2068:Fance'

226892

Institutional Source

Beutler Lab

Gene Symbol

Fance

Ensembl Gene

ENSMUSG00000007570

Gene Name

Fanconi anemia, complementation group E

Synonyms

2810451D06Rik

MMRRC Submission

040073-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R2068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28532504-28545548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28539799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 83 (F83S)

Ref Sequence

ENSEMBL: ENSMUSP00000110451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088007] [ENSMUST00000114801] [ENSMUST00000114803] [ENSMUST00000114804] [ENSMUST00000123248] [ENSMUST00000133527] [ENSMUST00000146104] [ENSMUST00000156505]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088007
AA Change: F128S

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000085322
Gene: ENSMUSG00000007570
AA Change: F128S

Domain	Start	End	E-Value	Type
Pfam:FA_FANCE	1	212	5.9e-93	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114801
AA Change: F83S

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110449
Gene: ENSMUSG00000007570
AA Change: F83S

Domain	Start	End	E-Value	Type
Pfam:FA_FANCE	7	98	1.8e-32	PFAM
Pfam:FA_FANCE	93	125	7.6e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114803
AA Change: F83S

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110451
Gene: ENSMUSG00000007570
AA Change: F83S

Domain	Start	End	E-Value	Type
Pfam:FA_FANCE	7	167	1.5e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114804
AA Change: F128S

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110452
Gene: ENSMUSG00000007570
AA Change: F128S

Domain	Start	End	E-Value	Type
Pfam:FA_FANCE	1	140	3.7e-56	PFAM
Pfam:FA_FANCE	137	170	6e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123248
AA Change: F97S

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119663
Gene: ENSMUSG00000007570
AA Change: F97S

Domain	Start	End	E-Value	Type
Pfam:FA_FANCE	1	154	3.1e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128079

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133527
AA Change: F128S

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122226
Gene: ENSMUSG00000007570
AA Change: F128S

Domain	Start	End	E-Value	Type
Pfam:FA_FANCE	1	130	2.8e-52	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146104
AA Change: F33S

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114386
Gene: ENSMUSG00000007570
AA Change: F33S

Domain	Start	End	E-Value	Type
Pfam:FA_FANCE	1	96	7.2e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156505
AA Change: F52S

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118622
Gene: ENSMUSG00000007570
AA Change: F52S

Domain	Start	End	E-Value	Type
Pfam:FA_FANCE	1	67	4e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140404

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the complementation group E subunit of the multimeric Fanconi anemia (FA) nuclear complex composed of proteins encoded by over ten Fanconi anemia complementation (FANC) group genes: FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The FA complex is necessary for protection against DNA damage. This gene product is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. Defects in the related human gene are a cause of Fanconi anemia, a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Translation of this protein is initiated at a non-AUG (CUG) start codon, which is inferred from the related human gene and the notion that this protein is functionally indispensable. Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2009]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
Abcb5	A	T	12: 118,904,303 (GRCm39)	C162*	probably null	Het
Akr1c19	A	T	13: 4,288,391 (GRCm39)		probably null	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Bsn	T	G	9: 107,987,883 (GRCm39)		probably benign	Het
Bsn	T	A	9: 108,003,749 (GRCm39)	M219L	possibly damaging	Het
Btnl9	T	C	11: 49,060,390 (GRCm39)	T453A	probably damaging	Het
C6	G	T	15: 4,820,552 (GRCm39)	C521F	probably damaging	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Cdh20	A	T	1: 110,065,666 (GRCm39)	R647*	probably null	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Cmya5	T	A	13: 93,227,032 (GRCm39)	K2685N	possibly damaging	Het
Cnksr2	A	C	X: 156,728,302 (GRCm39)	S224R	possibly damaging	Het
Cntn1	T	C	15: 92,215,943 (GRCm39)	V992A	possibly damaging	Het
Dapk1	G	A	13: 60,899,022 (GRCm39)	D831N	probably damaging	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah6	A	G	6: 72,998,165 (GRCm39)	Y4034H	probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Eps8	A	T	6: 137,499,172 (GRCm39)	W239R	probably benign	Het
Fn1	A	G	1: 71,639,598 (GRCm39)	V1731A	probably damaging	Het
Gak	G	T	5: 108,718,091 (GRCm39)	T1244K	probably benign	Het
Gas8	T	A	8: 124,253,276 (GRCm39)	I208N	probably damaging	Het
Gm9830	A	T	9: 44,375,579 (GRCm39)		noncoding transcript	Het
Gm9837	T	A	11: 53,361,092 (GRCm39)		probably benign	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Hdac3	C	A	18: 38,076,569 (GRCm39)	G257V	probably damaging	Het
Heg1	A	G	16: 33,547,960 (GRCm39)	T916A	probably benign	Het
Herc2	G	T	7: 55,782,245 (GRCm39)	G1311C	probably damaging	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Itm2b	T	C	14: 73,600,575 (GRCm39)	K242E	probably damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Klrg2	G	A	6: 38,613,928 (GRCm39)	T25I	probably benign	Het
Lcn5	G	A	2: 25,548,053 (GRCm39)	V21M	probably damaging	Het
Liat1	T	C	11: 75,891,077 (GRCm39)	S64P	possibly damaging	Het
Lonp2	A	G	8: 87,392,403 (GRCm39)	T490A	probably damaging	Het
Lrrn3	A	T	12: 41,502,995 (GRCm39)	S441T	probably damaging	Het
Mpdz	G	A	4: 81,254,067 (GRCm39)	R1W	probably null	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mpzl2	G	A	9: 44,955,169 (GRCm39)		probably null	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Notch3	A	G	17: 32,354,482 (GRCm39)	C1748R	probably benign	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Oasl2	A	C	5: 115,049,298 (GRCm39)	D466A	probably benign	Het
Opa3	T	C	7: 18,978,739 (GRCm39)	I68T	possibly damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or2ag1	T	A	7: 106,313,373 (GRCm39)	R172W	probably benign	Het
Or2d3c	T	G	7: 106,526,162 (GRCm39)	Y168S	probably damaging	Het
Or5p63	T	C	7: 107,811,547 (GRCm39)	Y63C	probably damaging	Het
Or8g37	T	C	9: 39,731,846 (GRCm39)	F304L	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pdzrn3	T	C	6: 101,127,660 (GRCm39)	E1002G	probably damaging	Het
Pik3c2a	A	T	7: 115,972,126 (GRCm39)	L768*	probably null	Het
Plxna4	A	G	6: 32,494,551 (GRCm39)	S22P	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Pramel11	T	C	4: 143,623,482 (GRCm39)	M231V	probably damaging	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Pum1	A	G	4: 130,501,745 (GRCm39)	T845A	probably benign	Het
Rad21l	T	C	2: 151,509,927 (GRCm39)	H58R	probably damaging	Het
Rgma	A	C	7: 73,059,379 (GRCm39)	D161A	probably damaging	Het
Scai	T	C	2: 39,013,025 (GRCm39)	Y135C	probably damaging	Het
Scn2a	T	A	2: 65,582,417 (GRCm39)	H1588Q	probably benign	Het
Sdha	A	T	13: 74,472,087 (GRCm39)		probably null	Het
Slc12a3	A	G	8: 95,072,456 (GRCm39)	D658G	probably damaging	Het
Slc5a3	A	G	16: 91,874,128 (GRCm39)	S62G	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,998,320 (GRCm39)		probably benign	Het
Sulf1	A	G	1: 12,910,627 (GRCm39)	I649V	probably damaging	Het
Thbs1	C	T	2: 117,954,018 (GRCm39)	Q1090*	probably null	Het
Tjp2	C	A	19: 24,099,687 (GRCm39)	R400L	probably benign	Het
Tle4	A	T	19: 14,427,113 (GRCm39)	Y769*	probably null	Het
Trmt5	A	T	12: 73,331,444 (GRCm39)		probably null	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Ubac2	T	A	14: 122,145,691 (GRCm39)	Y116*	probably null	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Ush1c	T	C	7: 45,878,905 (GRCm39)	Y74C	probably damaging	Het
Usp36	T	C	11: 118,165,844 (GRCm39)	T160A	possibly damaging	Het
Usp54	G	T	14: 20,627,273 (GRCm39)	P462T	probably damaging	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vps11	A	G	9: 44,269,613 (GRCm39)	S213P	probably damaging	Het
Zfp668	C	T	7: 127,465,837 (GRCm39)	G449D	probably benign	Het

Other mutations in Fance

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Fance	APN	17	28,541,753 (GRCm39)	intron	probably benign
R2513:Fance	UTSW	17	28,537,068 (GRCm39)	missense	probably benign	0.00
R4483:Fance	UTSW	17	28,534,781 (GRCm39)	unclassified	probably benign
R4579:Fance	UTSW	17	28,536,125 (GRCm39)	splice site	probably null
R4664:Fance	UTSW	17	28,534,636 (GRCm39)	unclassified	probably benign
R4719:Fance	UTSW	17	28,537,293 (GRCm39)	splice site	probably benign
R5225:Fance	UTSW	17	28,534,589 (GRCm39)	unclassified	probably benign
R5404:Fance	UTSW	17	28,537,034 (GRCm39)	missense	probably null	1.00
R6165:Fance	UTSW	17	28,545,068 (GRCm39)	missense	probably benign	0.28
R6845:Fance	UTSW	17	28,536,565 (GRCm39)	missense	probably damaging	0.99
R7218:Fance	UTSW	17	28,545,148 (GRCm39)	missense	probably benign	0.00
R8033:Fance	UTSW	17	28,532,659 (GRCm39)	unclassified	probably benign
R8447:Fance	UTSW	17	28,545,155 (GRCm39)	missense	unknown
R9416:Fance	UTSW	17	28,537,327 (GRCm39)	missense	probably damaging	1.00
R9485:Fance	UTSW	17	28,536,479 (GRCm39)	missense	probably damaging	1.00
Z1176:Fance	UTSW	17	28,537,038 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGCTTCCATACTCAGTGC -3'
(R):5'- AATCCCAAGGCAGGTGCTAC -3'

Sequencing Primer
(F):5'- GATCAAACCCAGGATGGT -3'
(R):5'- TGCTACCAAAAGTCAGGGC -3'

Posted On

2014-09-17