Mutagenetix > Incidental Mutation

Incidental Mutation 'R5225:Fance'

402589

Institutional Source

Beutler Lab

Gene Symbol

Fance

Ensembl Gene

ENSMUSG00000007570

Gene Name

Fanconi anemia, complementation group E

Synonyms

2810451D06Rik

MMRRC Submission

042798-MU

Accession Numbers

Essential gene?

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

Stock #

R5225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28532504-28545548 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 28534589 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] [ENSMUST00000133527] [ENSMUST00000146104] [ENSMUST00000156505]

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: ENSMUST00000141648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156569

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

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

Meta Mutation Damage Score

0.1537

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (70/70)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	C	T	17: 9,226,839 (GRCm39)	R465*	probably null	Het
Abcg3	A	T	5: 105,114,649 (GRCm39)	D289E	probably damaging	Het
Ablim2	G	T	5: 36,024,115 (GRCm39)		probably null	Het
Acp1	A	T	12: 30,955,078 (GRCm39)	V36D	probably benign	Het
Adgrb1	T	A	15: 74,449,348 (GRCm39)		probably benign	Het
Akap6	G	A	12: 52,933,329 (GRCm39)	V274I	probably damaging	Het
Arhgap39	T	C	15: 76,609,715 (GRCm39)		probably benign	Het
Bmp1	G	A	14: 70,717,605 (GRCm39)	R789W	probably damaging	Het
Catspere2	A	T	1: 177,976,474 (GRCm39)		probably benign	Het
Cfhr2	T	A	1: 139,749,520 (GRCm39)	Y154F	possibly damaging	Het
Cilp2	T	C	8: 70,336,015 (GRCm39)	Y358C	probably damaging	Het
Cyp1a2	T	A	9: 57,584,516 (GRCm39)	K513*	probably null	Het
Dennd4a	G	T	9: 64,796,210 (GRCm39)	K745N	possibly damaging	Het
Dlg1	T	A	16: 31,655,085 (GRCm39)	S542T	probably benign	Het
Dmbt1	A	T	7: 130,696,465 (GRCm39)	I893F	possibly damaging	Het
Dnhd1	A	T	7: 105,353,130 (GRCm39)	E2761V	possibly damaging	Het
F11	T	C	8: 45,708,341 (GRCm39)	T40A	probably benign	Het
Fam227a	T	C	15: 79,520,936 (GRCm39)	D296G	possibly damaging	Het
Gaa	A	G	11: 119,167,669 (GRCm39)	D149G	probably damaging	Het
Gapt	A	G	13: 110,490,522 (GRCm39)	M47T	possibly damaging	Het
Gm1110	T	C	9: 26,813,774 (GRCm39)	N202D	probably damaging	Het
Gm7535	T	C	17: 18,131,809 (GRCm39)		probably benign	Het
Gm973	T	A	1: 59,601,859 (GRCm39)	M491K	probably benign	Het
Gmnc	A	G	16: 26,782,695 (GRCm39)	V27A	probably benign	Het
Kif27	T	C	13: 58,440,915 (GRCm39)	T1167A	possibly damaging	Het
Klrg1	T	A	6: 122,248,331 (GRCm39)	*189C	probably null	Het
Lime1	T	A	2: 181,024,640 (GRCm39)	M98K	probably benign	Het
Lrp1	C	A	10: 127,391,965 (GRCm39)	A2867S	probably benign	Het
Lrrd1	G	A	5: 3,908,735 (GRCm39)	S669N	probably benign	Het
Mmel1	A	G	4: 154,976,456 (GRCm39)	N520S	probably damaging	Het
Mrpl48	A	C	7: 100,198,535 (GRCm39)	L206V	probably damaging	Het
Nagpa	C	T	16: 5,021,596 (GRCm39)	A52T	probably benign	Het
Or1o3	A	G	17: 37,573,919 (GRCm39)	V212A	probably benign	Het
Or4c3	T	G	2: 89,851,528 (GRCm39)	D294A	probably benign	Het
Orai2	A	G	5: 136,190,355 (GRCm39)	S71P	probably damaging	Het
Pcbp1	A	T	6: 86,502,209 (GRCm39)	I230N	probably damaging	Het
Pcdh15	T	C	10: 74,138,986 (GRCm39)	L349P	probably damaging	Het
Pcdhb16	T	C	18: 37,613,011 (GRCm39)	V657A	probably benign	Het
Prdm15	G	T	16: 97,609,875 (GRCm39)	H590N	probably damaging	Het
Psg18	T	C	7: 18,079,874 (GRCm39)	I442M	probably damaging	Het
Pygm	C	A	19: 6,439,494 (GRCm39)	D279E	probably benign	Het
Rrn3	T	A	16: 13,610,798 (GRCm39)		probably null	Het
Sass6	T	C	3: 116,407,702 (GRCm39)	S273P	possibly damaging	Het
Schip1	A	G	3: 68,402,270 (GRCm39)	M116V	probably benign	Het
Sdc3	G	A	4: 130,546,087 (GRCm39)	V55I	unknown	Het
Serpinb8	T	A	1: 107,525,201 (GRCm39)	M1K	probably null	Het
Slc24a5	T	C	2: 124,927,739 (GRCm39)	I346T	probably damaging	Het
Slc35f3	T	A	8: 127,117,846 (GRCm39)	I335N	probably damaging	Het
Snapc2	T	A	8: 4,305,299 (GRCm39)	V147E	probably damaging	Het
Snx2	T	C	18: 53,322,784 (GRCm39)	S56P	possibly damaging	Het
Sptbn5	A	G	2: 119,915,812 (GRCm39)		probably benign	Het
Stk19	A	T	17: 35,040,400 (GRCm39)		probably benign	Het
Sulf1	A	G	1: 12,911,702 (GRCm39)	E692G	probably benign	Het
Tet1	C	T	10: 62,674,450 (GRCm39)	V1209I	probably damaging	Het
Tln1	T	C	4: 43,539,406 (GRCm39)	T1639A	probably benign	Het
Tmem135	G	T	7: 88,845,335 (GRCm39)	Y165*	probably null	Het
Tmprss6	T	C	15: 78,336,707 (GRCm39)	T398A	probably damaging	Het
Ube4a	C	T	9: 44,851,258 (GRCm39)		probably null	Het
Vmn1r227	T	C	17: 20,955,499 (GRCm39)		noncoding transcript	Het
Wdhd1	T	C	14: 47,488,273 (GRCm39)	S745G	probably benign	Het
Xylt1	A	G	7: 117,191,263 (GRCm39)	H353R	probably damaging	Het
Zfp788	A	G	7: 41,298,980 (GRCm39)	T539A	probably benign	Het
Zfp866	A	T	8: 70,218,091 (GRCm39)	F510I	possibly damaging	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
R4664:Fance	UTSW	17	28,534,636 (GRCm39)	unclassified	probably benign
R4719:Fance	UTSW	17	28,537,293 (GRCm39)	splice site	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'- CACAGTGTTCAACTCCAGAGCC -3'
(R):5'- GCTTCTGGTCAATGGAGAAGATC -3'

Sequencing Primer
(F):5'- GTGTTCAACTCCAGAGCCAGTATG -3'
(R):5'- GGAGAAGATCCCTCAGCGACTC -3'

Posted On

2016-07-22