Mutagenetix > Incidental Mutation

Incidental Mutation 'R0006:Fancl'

43657

Institutional Source

Beutler Lab

Gene Symbol

Fancl

Ensembl Gene

ENSMUSG00000004018

Gene Name

Fanconi anemia, complementation group L

Synonyms

gcd, 2010322C19Rik, Pog, B230118H11Rik, Phf9

MMRRC Submission

041980-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R0006 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26337084-26421883 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26419695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 316 (N316S)

Ref Sequence

ENSEMBL: ENSMUSP00000004120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004120] [ENSMUST00000078362] [ENSMUST00000109504] [ENSMUST00000109509]

AlphaFold

Q9CR14

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004120
AA Change: N316S

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000004120
Gene: ENSMUSG00000004018
AA Change: N316S

Domain	Start	End	E-Value	Type
Pfam:WD-3	11	295	1.1e-106	PFAM
FANCL_C	303	371	7.55e-44	SMART
RING	307	362	2.77e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078362

SMART Domains

Protein: ENSMUSP00000077471
Gene: ENSMUSG00000064090

Domain	Start	End	E-Value	Type
Pfam:Pkinase	29	298	4.4e-18	PFAM
Pfam:Pkinase_Tyr	29	313	2e-11	PFAM
low complexity region	365	376	N/A	INTRINSIC
transmembrane domain	480	502	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109504

SMART Domains

Protein: ENSMUSP00000105130
Gene: ENSMUSG00000064090

Domain	Start	End	E-Value	Type
Pfam:Pkinase	29	302	2.8e-22	PFAM
Pfam:Pkinase_Tyr	29	313	1.3e-11	PFAM
low complexity region	365	376	N/A	INTRINSIC
transmembrane domain	480	502	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109509
AA Change: N311S

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105135
Gene: ENSMUSG00000004018
AA Change: N311S

Domain	Start	End	E-Value	Type
Pfam:WD-3	8	290	2.4e-116	PFAM
FANCL_C	298	366	7.55e-44	SMART
RING	302	357	2.77e-1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000134445
AA Change: N85S

SMART Domains

Protein: ENSMUSP00000119873
Gene: ENSMUSG00000004018
AA Change: N85S

Domain	Start	End	E-Value	Type
Pfam:WD-3	1	65	2.2e-24	PFAM
Pfam:FANCL_C	73	127	4.2e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143471

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.3%

Validation Efficiency

97% (67/69)

MGI Phenotype

FUNCTION: This gene encodes the complementation group L subunit of the multimeric Fanconi anemia (FA) nuclear complex composed of proteins encoded by over ten Fanconi anemia complementation (FANC) group genes. The FA complex is necessary for protection against DNA damage. This gene product, an E3 ubiquitin ligase, catalyzes and is required for the monoubiquitination of the protein encoded by the Fanconi anemia, complementation group D2 gene, a critical step in the FA pathway (PMID: 12973351, 21229326). In mouse, mutations of this E3 ubiquitin ligase gene can lead to infertility in adult males and females, and a deletion of this gene can cause embryonic lethality in some genetic backgrounds. A pseudogene of this gene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygosity for mutations that inactivate the allele results in male and female infertility due to a defects in primordial germ cell proliferation. Homozygosity is embryonic lethal on some backgrounds. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,813,935 (GRCm39)		probably benign	Het
Aldh3a1	G	A	11: 61,107,927 (GRCm39)	V324M	probably damaging	Het
Als2cl	T	A	9: 110,723,686 (GRCm39)	L694Q	possibly damaging	Het
Appl2	A	G	10: 83,438,762 (GRCm39)	F556L	probably damaging	Het
Atad2b	T	A	12: 4,992,030 (GRCm39)	S210T	possibly damaging	Het
Aurka	A	G	2: 172,201,673 (GRCm39)		probably null	Het
Boc	C	T	16: 44,316,812 (GRCm39)	V444I	probably benign	Het
Cfap61	G	A	2: 145,919,232 (GRCm39)	V655I	probably benign	Het
Chd8	A	G	14: 52,472,750 (GRCm39)	I351T	possibly damaging	Het
Chid1	T	A	7: 141,076,339 (GRCm39)		probably benign	Het
Cyp3a41a	T	A	5: 145,641,606 (GRCm39)	H288L	probably benign	Het
Dnase2b	T	A	3: 146,288,244 (GRCm39)	I284F	probably damaging	Het
Dock2	A	G	11: 34,262,453 (GRCm39)		probably benign	Het
Dst	C	T	1: 34,267,999 (GRCm39)	T5325I	probably benign	Het
Erbb3	A	G	10: 128,409,279 (GRCm39)		probably null	Het
Farsa	G	T	8: 85,587,934 (GRCm39)		probably benign	Het
Fibcd1	T	G	2: 31,728,599 (GRCm39)	D86A	probably damaging	Het
Gab1	A	T	8: 81,496,359 (GRCm39)	M617K	possibly damaging	Het
Gabrd	C	A	4: 155,473,058 (GRCm39)	V72L	probably damaging	Het
Ggh	C	A	4: 20,054,155 (GRCm39)	T150K	possibly damaging	Het
Gnb3	G	A	6: 124,812,767 (GRCm39)		probably benign	Het
Hephl1	T	A	9: 14,988,060 (GRCm39)	T683S	probably benign	Het
Hmcn1	G	A	1: 150,684,427 (GRCm39)	P381L	probably damaging	Het
Hspa8	T	G	9: 40,715,925 (GRCm39)	N544K	probably benign	Het
Hspg2	C	T	4: 137,247,242 (GRCm39)	T1155I	probably damaging	Het
Igdcc4	C	T	9: 65,042,382 (GRCm39)		probably benign	Het
Jazf1	A	G	6: 52,871,071 (GRCm39)		probably benign	Het
Kntc1	T	A	5: 123,927,201 (GRCm39)	S1219T	probably benign	Het
L3mbtl1	A	T	2: 162,806,489 (GRCm39)	Y460F	possibly damaging	Het
Lcor	A	G	19: 41,573,338 (GRCm39)	T698A	probably benign	Het
Lyrm7	T	A	11: 54,739,423 (GRCm39)	T76S	probably benign	Het
Map1b	C	T	13: 99,571,810 (GRCm39)	V304M	probably damaging	Het
Mcub	A	C	3: 129,727,414 (GRCm39)		probably benign	Het
Muc13	T	C	16: 33,623,518 (GRCm39)	S271P	probably damaging	Het
Myo16	A	G	8: 10,525,988 (GRCm39)	K843E	probably damaging	Het
Nav2	A	G	7: 49,102,978 (GRCm39)	E531G	possibly damaging	Het
Niban3	A	G	8: 72,057,688 (GRCm39)		probably benign	Het
Nup188	T	C	2: 30,212,035 (GRCm39)	V553A	probably benign	Het
Or1e16	A	G	11: 73,286,314 (GRCm39)	F178S	probably damaging	Het
Or1e1c	A	G	11: 73,266,414 (GRCm39)	M283V	possibly damaging	Het
Or52d1	A	G	7: 103,755,527 (GRCm39)	I14V	probably benign	Het
Or6z1	A	G	7: 6,504,610 (GRCm39)	I205T	possibly damaging	Het
Or8b9	T	A	9: 37,766,516 (GRCm39)	V134D	possibly damaging	Het
P4ha3	C	T	7: 99,968,155 (GRCm39)	R378*	probably null	Het
Rap1gds1	G	T	3: 138,689,632 (GRCm39)		probably null	Het
Rbfox1	T	A	16: 7,148,284 (GRCm39)	S244R	probably benign	Het
Rpp40	G	A	13: 36,080,718 (GRCm39)	P339S	probably damaging	Het
Rsph4a	T	C	10: 33,785,144 (GRCm39)	C148R	probably damaging	Het
Skint5	T	C	4: 113,751,059 (GRCm39)		probably benign	Het
Sptbn1	A	G	11: 30,073,855 (GRCm39)	S1405P	probably damaging	Het
Tex35	T	C	1: 156,927,314 (GRCm39)	K154E	possibly damaging	Het
Thada	T	C	17: 84,533,468 (GRCm39)	N1661S	probably benign	Het
Tle4	A	G	19: 14,444,078 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,901,266 (GRCm39)	S1027P	probably benign	Het
Tpm3	T	A	3: 89,994,968 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,158,960 (GRCm39)	F2438L	probably benign	Het
Uggt2	A	T	14: 119,287,075 (GRCm39)	F640L	probably benign	Het
Vmn1r20	T	G	6: 57,409,290 (GRCm39)	H205Q	probably damaging	Het
Wbp2	T	C	11: 115,970,614 (GRCm39)		probably null	Het
Xirp1	T	C	9: 119,846,520 (GRCm39)	I788V	probably benign	Het
Zc3hav1	A	G	6: 38,296,637 (GRCm39)		probably null	Het
Zfp687	A	G	3: 94,918,767 (GRCm39)	I335T	probably damaging	Het
Zfpm1	A	G	8: 123,061,227 (GRCm39)	Y264C	probably damaging	Het

Other mutations in Fancl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00755:Fancl	APN	11	26,420,916 (GRCm39)	missense	probably benign
IGL01940:Fancl	APN	11	26,409,752 (GRCm39)	missense	probably damaging	0.99
IGL02681:Fancl	APN	11	26,418,722 (GRCm39)	splice site	probably null
IGL03063:Fancl	APN	11	26,337,299 (GRCm39)	missense	probably damaging	1.00
R0006:Fancl	UTSW	11	26,419,695 (GRCm39)	missense	possibly damaging	0.46
R0218:Fancl	UTSW	11	26,421,337 (GRCm39)	missense	probably benign	0.30
R1016:Fancl	UTSW	11	26,337,195 (GRCm39)	unclassified	probably benign
R1802:Fancl	UTSW	11	26,409,709 (GRCm39)	missense	probably benign	0.01
R2018:Fancl	UTSW	11	26,372,459 (GRCm39)	missense	probably damaging	1.00
R2121:Fancl	UTSW	11	26,409,841 (GRCm39)	splice site	probably benign
R4579:Fancl	UTSW	11	26,418,423 (GRCm39)	splice site	probably null
R5472:Fancl	UTSW	11	26,419,677 (GRCm39)	missense	probably damaging	1.00
R5495:Fancl	UTSW	11	26,347,801 (GRCm39)	missense	probably damaging	1.00
R6425:Fancl	UTSW	11	26,349,680 (GRCm39)	missense	probably damaging	1.00
R7114:Fancl	UTSW	11	26,357,615 (GRCm39)	missense	probably damaging	1.00
R7139:Fancl	UTSW	11	26,353,358 (GRCm39)	missense	probably benign	0.01
R7302:Fancl	UTSW	11	26,353,363 (GRCm39)	missense	probably damaging	0.98
R7324:Fancl	UTSW	11	26,353,362 (GRCm39)	missense	probably damaging	1.00
R8307:Fancl	UTSW	11	26,349,642 (GRCm39)	splice site	probably benign
R8684:Fancl	UTSW	11	26,420,826 (GRCm39)	missense
R8732:Fancl	UTSW	11	26,419,754 (GRCm39)	missense	probably benign
R9139:Fancl	UTSW	11	26,337,231 (GRCm39)	missense	probably benign	0.45
R9277:Fancl	UTSW	11	26,418,847 (GRCm39)	missense	possibly damaging	0.46
R9568:Fancl	UTSW	11	26,418,672 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CTTGCCAGCCCCAAATGAAATCTG -3'
(R):5'- TATGCAGCCTGCACAGTAGCAC -3'

Sequencing Primer
(F):5'- ATGAGACTAGGTGTTATCTCTGC -3'
(R):5'- GGGAGACTTCAGTTATACCTACC -3'

Posted On

2013-05-29