Mutagenetix > Incidental Mutation

Incidental Mutation 'R4664:Fance'

353140

Institutional Source

Beutler Lab

Gene Symbol

Fance

Ensembl Gene

ENSMUSG00000007570

Gene Name

Fanconi anemia, complementation group E

Synonyms

2810451D06Rik

MMRRC Submission

041922-MU

Accession Numbers

Essential gene?

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

Stock #

R4664 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28532504-28545548 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 28534636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118622 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000088007

SMART Domains

Protein: ENSMUSP00000085322
Gene: ENSMUSG00000007570

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114801

SMART Domains

Protein: ENSMUSP00000110449
Gene: ENSMUSG00000007570

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

probably benign
Transcript: ENSMUST00000114803

SMART Domains

Protein: ENSMUSP00000110451
Gene: ENSMUSG00000007570

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114804

SMART Domains

Protein: ENSMUSP00000110452
Gene: ENSMUSG00000007570

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

probably benign
Transcript: ENSMUST00000123248

SMART Domains

Protein: ENSMUSP00000119663
Gene: ENSMUSG00000007570

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

noncoding transcript
Transcript: ENSMUST00000140404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151312

Predicted Effect

probably benign
Transcript: ENSMUST00000146104

SMART Domains

Protein: ENSMUSP00000114386
Gene: ENSMUSG00000007570

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156505

SMART Domains

Protein: ENSMUSP00000118622
Gene: ENSMUSG00000007570

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133527

SMART Domains

Protein: ENSMUSP00000122226
Gene: ENSMUSG00000007570

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (110/115)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano2	A	G	6: 125,840,501 (GRCm39)	I391V	probably benign	Het
Apc	T	A	18: 34,431,647 (GRCm39)	L349M	probably damaging	Het
Atmin	A	G	8: 117,684,698 (GRCm39)	D786G	probably damaging	Het
Atp8a1	T	A	5: 67,919,929 (GRCm39)	D379V	possibly damaging	Het
Aurkb	A	G	11: 68,939,435 (GRCm39)	K173E	probably damaging	Het
Bak1	T	C	17: 27,241,510 (GRCm39)	I83V	possibly damaging	Het
Btbd17	A	C	11: 114,684,832 (GRCm39)	V69G	probably damaging	Het
Cacna1a	T	A	8: 85,328,396 (GRCm39)	Y1597*	probably null	Het
Camk2a	C	A	18: 61,088,696 (GRCm39)	Q167K	possibly damaging	Het
Capn1	A	T	19: 6,061,045 (GRCm39)	N253K	probably benign	Het
Ccer2	A	G	7: 28,455,928 (GRCm39)	E40G	probably benign	Het
Cdc42bpa	A	G	1: 179,972,130 (GRCm39)	T527A	probably damaging	Het
Cdkl2	T	C	5: 92,185,124 (GRCm39)	D89G	probably damaging	Het
Cep128	G	T	12: 91,263,027 (GRCm39)	R291S	probably damaging	Het
Cert1	T	C	13: 96,735,965 (GRCm39)	V175A	probably benign	Het
Chd4	A	G	6: 125,078,465 (GRCm39)	M203V	possibly damaging	Het
Chrna4	A	G	2: 180,679,286 (GRCm39)	S54P	probably damaging	Het
Cic	TGTTGCCCTC	T	7: 24,990,099 (GRCm39)		probably benign	Het
Cntn5	T	A	9: 10,144,214 (GRCm39)	I152L	possibly damaging	Het
Cntn6	A	G	6: 104,705,245 (GRCm39)	E154G	probably benign	Het
Col16a1	A	C	4: 129,955,883 (GRCm39)		probably benign	Het
Cpvl	C	T	6: 53,908,918 (GRCm39)	E282K	probably benign	Het
Cyth2	T	C	7: 45,460,143 (GRCm39)	D183G	probably damaging	Het
Ddx47	A	T	6: 134,989,319 (GRCm39)	T48S	possibly damaging	Het
Dgkk	A	G	X: 6,794,751 (GRCm39)	D685G	probably benign	Het
Dis3l	C	T	9: 64,238,080 (GRCm39)	S29N	unknown	Het
Dlg5	T	C	14: 24,187,249 (GRCm39)	H1834R	possibly damaging	Het
Dnah10	T	C	5: 124,905,536 (GRCm39)	M4060T	possibly damaging	Het
Dock3	T	A	9: 106,870,743 (GRCm39)	N557I	possibly damaging	Het
Dync2i1	T	C	12: 116,219,831 (GRCm39)	E37G	probably damaging	Het
Eprs1	A	T	1: 185,105,273 (GRCm39)		probably benign	Het
Faim2	C	A	15: 99,422,581 (GRCm39)		probably null	Het
Faim2	T	G	15: 99,422,582 (GRCm39)	S72R	probably benign	Het
Fanca	T	C	8: 123,995,711 (GRCm39)	T1364A	probably damaging	Het
Farsb	A	T	1: 78,420,402 (GRCm39)	H496Q	possibly damaging	Het
Fryl	C	T	5: 73,248,022 (GRCm39)	E1032K	possibly damaging	Het
Galnt14	A	T	17: 73,814,808 (GRCm39)		probably benign	Het
Gba2	A	T	4: 43,568,619 (GRCm39)		probably benign	Het
Gjb4	C	A	4: 127,245,571 (GRCm39)	K123N	probably damaging	Het
Gmcl1	G	A	6: 86,709,980 (GRCm39)	T56I	probably benign	Het
Gtf2ird1	T	A	5: 134,412,756 (GRCm39)	E55V	probably damaging	Het
Gtpbp2	T	C	17: 46,472,080 (GRCm39)	V5A	probably benign	Het
Hnrnpr	A	G	4: 136,044,486 (GRCm39)		probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Hsd3b3	T	C	3: 98,649,532 (GRCm39)	S264G	probably damaging	Het
Ints8	T	C	4: 11,227,152 (GRCm39)	M574V	probably benign	Het
Kif4-ps	G	A	12: 101,115,477 (GRCm39)		noncoding transcript	Het
Klhl14	A	T	18: 21,687,765 (GRCm39)	N552K	probably benign	Het
Klhl40	A	G	9: 121,609,799 (GRCm39)	E528G	probably damaging	Het
Lactb2	T	C	1: 13,717,624 (GRCm39)	E133G	probably damaging	Het
Lratd2	A	T	15: 60,695,478 (GRCm39)	D89E	probably benign	Het
Lrrtm2	T	C	18: 35,347,310 (GRCm39)		probably null	Het
Mab21l2	T	A	3: 86,454,811 (GRCm39)	Y63F	probably benign	Het
Mbd1	T	A	18: 74,402,597 (GRCm39)	I33N	possibly damaging	Het
Mertk	G	A	2: 128,643,132 (GRCm39)	V844M	probably benign	Het
Myh11	T	C	16: 14,044,448 (GRCm39)	T652A	possibly damaging	Het
Nlrp4a	C	A	7: 26,148,943 (GRCm39)	Y183*	probably null	Het
Noa1	T	A	5: 77,447,600 (GRCm39)	T558S	probably benign	Het
Nol11	A	T	11: 107,071,826 (GRCm39)	S256T	possibly damaging	Het
Nr1d1	G	T	11: 98,662,086 (GRCm39)	R183S	possibly damaging	Het
Nrg2	G	T	18: 36,185,948 (GRCm39)	Q264K	possibly damaging	Het
Nsd3	T	A	8: 26,188,894 (GRCm39)	F1027I	probably damaging	Het
Ntrk3	T	A	7: 78,110,847 (GRCm39)	I285F	probably damaging	Het
Obox8	T	C	7: 14,066,771 (GRCm39)	N91S	possibly damaging	Het
Oga	T	C	19: 45,760,384 (GRCm39)	E258G	probably benign	Het
Orc5	C	T	5: 22,751,520 (GRCm39)	S63N	probably benign	Het
Osbpl6	C	T	2: 76,398,552 (GRCm39)	T412I	probably benign	Het
P2ry14	C	T	3: 59,022,563 (GRCm39)	C308Y	probably damaging	Het
Pacsin1	T	C	17: 27,926,038 (GRCm39)	F127L	probably damaging	Het
Pex11b	T	C	3: 96,551,151 (GRCm39)	L198P	possibly damaging	Het
Pla2g4e	A	T	2: 120,001,669 (GRCm39)	V660E	probably damaging	Het
Plxna4	C	A	6: 32,493,885 (GRCm39)	V244F	possibly damaging	Het
Polr3b	A	G	10: 84,550,233 (GRCm39)	Y981C	probably damaging	Het
Popdc2	T	A	16: 38,194,649 (GRCm39)	S357T	probably damaging	Het
Prr29	A	G	11: 106,267,159 (GRCm39)	H58R	probably damaging	Het
Pyy	T	A	11: 101,998,178 (GRCm39)	M1L	possibly damaging	Het
Rasd2	T	C	8: 75,948,556 (GRCm39)	S161P	possibly damaging	Het
Ryr3	C	T	2: 112,826,900 (GRCm39)		probably benign	Het
Sectm1a	G	A	11: 120,960,552 (GRCm39)	R88C	possibly damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Siglecf	A	T	7: 43,005,837 (GRCm39)	I465F	possibly damaging	Het
Sorl1	A	T	9: 41,915,347 (GRCm39)	M1294K	probably damaging	Het
Spam1	A	T	6: 24,796,661 (GRCm39)	H204L	probably benign	Het
Sspo	A	T	6: 48,450,468 (GRCm39)	N2586Y	possibly damaging	Het
Tbc1d4	A	G	14: 101,700,263 (GRCm39)		probably benign	Het
Tceanc2	A	T	4: 107,022,757 (GRCm39)	S77T	probably damaging	Het
Tedc2	A	G	17: 24,439,114 (GRCm39)		probably benign	Het
Tgm6	A	G	2: 129,979,314 (GRCm39)	D148G	probably benign	Het
Tgm6	A	T	2: 129,983,128 (GRCm39)	Q239L	probably benign	Het
Thsd7a	T	A	6: 12,337,313 (GRCm39)	T1235S	possibly damaging	Het
Thsd7a	T	A	6: 12,504,012 (GRCm39)	I381F	possibly damaging	Het
Tmc4	T	C	7: 3,674,270 (GRCm39)		probably null	Het
Tmem54	A	T	4: 129,004,704 (GRCm39)	E186D	possibly damaging	Het
Tpk1	A	T	6: 43,588,269 (GRCm39)	F32I	probably benign	Het
Trpc4ap	A	G	2: 155,514,917 (GRCm39)	I97T	probably benign	Het
Tut7	G	A	13: 59,948,413 (GRCm39)	T636I	possibly damaging	Het
Txlnb	A	G	10: 17,718,942 (GRCm39)	E591G	probably damaging	Het
Tyk2	C	T	9: 21,025,503 (GRCm39)	A741T	probably damaging	Het
Ubr4	G	A	4: 139,133,829 (GRCm39)	E742K	possibly damaging	Het
Uckl1	A	T	2: 181,216,661 (GRCm39)	S95T	possibly damaging	Het
Uevld	T	A	7: 46,587,734 (GRCm39)	D322V	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn1r238	G	T	18: 3,123,300 (GRCm39)	T38K	probably damaging	Het
Vps8	T	A	16: 21,262,938 (GRCm39)		probably null	Het
Wdr83	T	C	8: 85,806,680 (GRCm39)		probably benign	Het
Zfp619	A	G	7: 39,183,559 (GRCm39)	T51A	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
R2068:Fance	UTSW	17	28,539,799 (GRCm39)	missense	possibly damaging	0.91
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
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'- TCAACTCCAGAGCCAGTATGC -3'
(R):5'- TAACTGACAGCTTCTGGTCAATGG -3'

Sequencing Primer
(F):5'- GGTACATGCCTGTGATCAGC -3'
(R):5'- CAGCTTCTGGTCAATGGAGAAGATC -3'

Posted On

2015-10-08