Mutagenetix > Incidental Mutation

Incidental Mutation 'R9485:Fance'

716548

Institutional Source

Beutler Lab

Gene Symbol

Fance

Ensembl Gene

ENSMUSG00000007570

Gene Name

Fanconi anemia, complementation group E

Synonyms

2810451D06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R9485 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28532504-28545548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28536479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 13 (L13H)

Ref Sequence

ENSEMBL: ENSMUSP00000110452 (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 damaging
Transcript: ENSMUST00000088007
AA Change: L13H

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

SMART Domains

Protein: ENSMUSP00000085322
Gene: ENSMUSG00000007570
AA Change: L13H

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 damaging
Transcript: ENSMUST00000114804
AA Change: L13H

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

SMART Domains

Protein: ENSMUSP00000110452
Gene: ENSMUSG00000007570
AA Change: L13H

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

probably damaging
Transcript: ENSMUST00000133527
AA Change: L13H

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

SMART Domains

Protein: ENSMUSP00000122226
Gene: ENSMUSG00000007570
AA Change: L13H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,383,400 (GRCm39)	D855G	possibly damaging	Het
4930486L24Rik	A	T	13: 61,001,059 (GRCm39)	V159D	possibly damaging	Het
Ahnak	G	A	19: 8,979,438 (GRCm39)	A241T	probably benign	Het
Apoa4	T	C	9: 46,152,453 (GRCm39)	M1T	probably null	Het
Atn1	T	C	6: 124,722,748 (GRCm39)	K776E	unknown	Het
Atp1a2	A	G	1: 172,105,822 (GRCm39)	*948R	probably null	Het
Atp7b	T	C	8: 22,502,778 (GRCm39)	Q801R	probably damaging	Het
Birc6	T	A	17: 74,945,398 (GRCm39)	S2824T	probably damaging	Het
Cacng3	A	T	7: 122,361,435 (GRCm39)	I109F	probably damaging	Het
Cass4	T	C	2: 172,269,805 (GRCm39)	F629S	probably benign	Het
Ccdc168	T	G	1: 44,095,399 (GRCm39)	K1900Q	possibly damaging	Het
Cnot6l	T	C	5: 96,230,858 (GRCm39)	T370A	probably damaging	Het
Cntnap5c	A	C	17: 58,409,103 (GRCm39)	D447A	probably damaging	Het
Col11a2	T	A	17: 34,258,669 (GRCm39)	L14Q	unknown	Het
Dennd4a	T	G	9: 64,814,388 (GRCm39)	Y1505*	probably null	Het
Dhx32	T	C	7: 133,327,110 (GRCm39)	M464V	possibly damaging	Het
Dip2b	T	C	15: 100,052,924 (GRCm39)	V266A	probably benign	Het
Dnajb6	C	T	5: 29,986,517 (GRCm39)	Q220*	probably null	Het
Dnmt3a	G	A	12: 3,916,121 (GRCm39)	S102N	probably benign	Het
Dph5	A	T	3: 115,681,977 (GRCm39)		probably benign	Het
Ear6	T	A	14: 52,091,489 (GRCm39)	L12H		Het
Erp27	T	C	6: 136,886,548 (GRCm39)	T162A	possibly damaging	Het
Fanci	T	A	7: 79,089,405 (GRCm39)	V947D	probably benign	Het
Gab1	G	A	8: 81,515,484 (GRCm39)	T278M	probably damaging	Het
Gbp4	A	T	5: 105,269,796 (GRCm39)	M344K	probably damaging	Het
Gpr87	C	T	3: 59,087,005 (GRCm39)	V167M	possibly damaging	Het
Gramd1a	T	G	7: 30,829,963 (GRCm39)	D708A	unknown	Het
Gzmd	T	A	14: 56,368,160 (GRCm39)	I100F	probably benign	Het
Hcrtr1	T	A	4: 130,031,054 (GRCm39)	M77L	possibly damaging	Het
Hipk2	C	A	6: 38,680,445 (GRCm39)	R965L	possibly damaging	Het
Ift88	T	C	14: 57,675,724 (GRCm39)	M79T	probably benign	Het
Ighv1-12	T	C	12: 114,579,525 (GRCm39)	Y99C	possibly damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Il22b	A	G	10: 118,130,314 (GRCm39)	V63A	probably benign	Het
Mllt1	C	T	17: 57,207,184 (GRCm39)	R220H	probably damaging	Het
Mroh8	T	C	2: 157,071,913 (GRCm39)	T531A	probably benign	Het
Myh6	T	C	14: 55,181,802 (GRCm39)	K1833R	probably benign	Het
Nfkbie	C	T	17: 45,871,353 (GRCm39)	T270I	probably damaging	Het
Or4c110	G	A	2: 88,831,709 (GRCm39)	P308S	unknown	Het
Or52b3	A	T	7: 102,204,013 (GRCm39)	N174I	probably damaging	Het
Or52e5	C	T	7: 104,718,703 (GRCm39)	H10Y	possibly damaging	Het
Pcdh8	A	T	14: 80,005,689 (GRCm39)	F900I	probably damaging	Het
Pcolce2	T	A	9: 95,520,720 (GRCm39)	C32*	probably null	Het
Pus7	A	T	5: 23,973,859 (GRCm39)	S212T	probably benign	Het
Rgs12	G	T	5: 35,189,614 (GRCm39)	W1322L	probably damaging	Het
Sec1	G	A	7: 45,328,033 (GRCm39)	T338I	probably damaging	Het
Slc25a36	T	C	9: 96,962,522 (GRCm39)	K156E	probably benign	Het
Snrpn	C	T	7: 59,637,212 (GRCm39)	D35N	probably damaging	Het
Sox9	A	G	11: 112,673,705 (GRCm39)	S99G	probably benign	Het
Spmip3	T	C	1: 177,580,545 (GRCm39)	V130A	possibly damaging	Het
Tacc3	T	C	5: 33,821,644 (GRCm39)	S135P	possibly damaging	Het
Taf2	T	C	15: 54,911,667 (GRCm39)	E583G	probably benign	Het
Tmprss7	T	A	16: 45,498,282 (GRCm39)	K366*	probably null	Het
Trpm6	G	T	19: 18,755,978 (GRCm39)	V74L	probably benign	Het
Ttbk2	G	T	2: 120,575,986 (GRCm39)	T997N	probably benign	Het
Utp25	C	A	1: 192,812,541 (GRCm39)		probably benign	Het
Vmn2r3	T	A	3: 64,183,046 (GRCm39)	I218F	probably damaging	Het
Vps50	T	C	6: 3,592,557 (GRCm39)	V730A	probably damaging	Het
Wdr47	A	T	3: 108,544,371 (GRCm39)	I665F	probably damaging	Het
Wnt7a	T	A	6: 91,343,297 (GRCm39)	N195I	probably benign	Het
Zfp131	A	G	13: 120,251,885 (GRCm39)		probably benign	Het
Zfp709	T	A	8: 72,643,669 (GRCm39)	V366E	possibly damaging	Het
Zfp985	T	A	4: 147,668,280 (GRCm39)	C383S	probably 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
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
Z1176:Fance	UTSW	17	28,537,038 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGTAGTCCCAGCGAGGTG -3'
(R):5'- TCCTTAGGACTCAAAGGATTCAC -3'

Sequencing Primer
(F):5'- GCCTCCCATGAAGCTCAG -3'
(R):5'- GGACTCAAAGGATTCACATTGTTCCC -3'

Posted On

2022-07-18