Mutagenetix > Incidental Mutation

Incidental Mutation 'R5404:Fance'

428646

Institutional Source

Beutler Lab

Gene Symbol

Fance

Ensembl Gene

ENSMUSG00000007570

Gene Name

Fanconi anemia, complementation group E

Synonyms

2810451D06Rik

MMRRC Submission

042975-MU

Accession Numbers

Essential gene?

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

Stock #

R5404 (G1)

Quality Score

203

Status

Not validated

Chromosome

Chromosomal Location

28532504-28545548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28537034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 58 (R58W)

Ref Sequence

ENSEMBL: ENSMUSP00000122226 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000088007
AA Change: R58W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085322
Gene: ENSMUSG00000007570
AA Change: R58W

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

Predicted Effect

probably null
Transcript: ENSMUST00000088007
AA Change: R58W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085322
Gene: ENSMUSG00000007570
AA Change: R58W

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

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000114804
AA Change: R58W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110452
Gene: ENSMUSG00000007570
AA Change: R58W

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 null
Transcript: ENSMUST00000114804
AA Change: R58W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110452
Gene: ENSMUSG00000007570
AA Change: R58W

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 null
Transcript: ENSMUST00000123248
AA Change: R27W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119663
Gene: ENSMUSG00000007570
AA Change: R27W

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

Predicted Effect

probably null
Transcript: ENSMUST00000123248
AA Change: R27W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119663
Gene: ENSMUSG00000007570
AA Change: R27W

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

probably null
Transcript: ENSMUST00000133527
AA Change: R58W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122226
Gene: ENSMUSG00000007570
AA Change: R58W

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

Predicted Effect

probably null
Transcript: ENSMUST00000133527
AA Change: R58W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122226
Gene: ENSMUSG00000007570
AA Change: R58W

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

Predicted Effect

probably null
Transcript: ENSMUST00000156505

SMART Domains

Protein: ENSMUSP00000118622
Gene: ENSMUSG00000007570

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: ENSMUST00000140404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156569

Predicted Effect

probably null
Transcript: ENSMUST00000146104

SMART Domains

Protein: ENSMUSP00000114386
Gene: ENSMUSG00000007570

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,791,545 (GRCm39)	H297R	probably benign	Het
Ccnk	A	T	12: 108,161,882 (GRCm39)	K262N	possibly damaging	Het
Clec4b2	A	T	6: 123,158,308 (GRCm39)	Y58F	probably benign	Het
Cp	A	C	3: 20,043,292 (GRCm39)	T1027P	possibly damaging	Het
Cpox	G	A	16: 58,495,649 (GRCm39)	G322D	probably damaging	Het
Cry1	T	C	10: 85,020,283 (GRCm39)	N18S	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock10	A	G	1: 80,481,630 (GRCm39)		probably benign	Het
Fermt1	T	C	2: 132,776,789 (GRCm39)	D233G	possibly damaging	Het
Gabpa	T	A	16: 84,657,351 (GRCm39)	Y409N	probably damaging	Het
Gpr162	A	G	6: 124,838,606 (GRCm39)	S15P	possibly damaging	Het
Grid2	T	A	6: 63,907,894 (GRCm39)	I178N	probably damaging	Het
Il17re	T	C	6: 113,446,063 (GRCm39)	V233A	probably benign	Het
Lemd3	G	A	10: 120,767,863 (GRCm39)	Q672*	probably null	Het
Myh15	A	G	16: 48,980,341 (GRCm39)	T1488A	probably benign	Het
Narf	T	A	11: 121,133,452 (GRCm39)	H84Q	probably benign	Het
Nedd1	C	T	10: 92,552,054 (GRCm39)	V69I	probably benign	Het
Nfil3	G	A	13: 53,122,091 (GRCm39)	S271F	probably damaging	Het
Npc1	A	G	18: 12,346,356 (GRCm39)	L280P	possibly damaging	Het
Or2n1e	T	A	17: 38,586,517 (GRCm39)	L285*	probably null	Het
Or4p20	C	T	2: 88,254,145 (GRCm39)	V75M	probably damaging	Het
Or51a25	T	A	7: 102,372,807 (GRCm39)	I297F	possibly damaging	Het
Poli	A	G	18: 70,642,503 (GRCm39)	S503P	probably benign	Het
Rbm5	T	C	9: 107,642,752 (GRCm39)	E94G	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Rps6ka5	T	C	12: 100,582,352 (GRCm39)	I173M	probably damaging	Het
Slc40a1	A	G	1: 45,951,488 (GRCm39)	L223P	probably damaging	Het
Smg1	T	C	7: 117,806,131 (GRCm39)	K213E	probably damaging	Het
Spem1	T	A	11: 69,711,763 (GRCm39)	K300N	probably damaging	Het
Tchh	A	G	3: 93,354,982 (GRCm39)	E1474G	unknown	Het
Tenm4	A	T	7: 96,543,887 (GRCm39)	R1968W	probably damaging	Het
Tshz2	A	T	2: 169,726,240 (GRCm39)	M279L	probably benign	Het
Tuba3a	G	T	6: 125,258,555 (GRCm39)	T145K	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
R5225:Fance	UTSW	17	28,534,589 (GRCm39)	unclassified	probably benign
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'- AACTTCTTATCGCCTGGGC -3'
(R):5'- TGGGCAAGTTACTCACTGAAGC -3'

Sequencing Primer
(F):5'- CCAGGTGGGGCTTTCAG -3'
(R):5'- AGTTACTCACTGAAGCCCTTAC -3'

Posted On

2016-09-06