Mutagenetix > Incidental Mutation

Incidental Mutation 'R9139:Fancl'

694225

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R9139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26337084-26421883 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26337231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 6 (A6E)

Ref Sequence

ENSEMBL: ENSMUSP00000004120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004120] [ENSMUST00000109509] [ENSMUST00000136830]

AlphaFold

Q9CR14

Predicted Effect

probably benign
Transcript: ENSMUST00000004120
AA Change: A6E

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000004120
Gene: ENSMUSG00000004018
AA Change: A6E

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

possibly damaging
Transcript: ENSMUST00000109509
AA Change: A6E

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105135
Gene: ENSMUSG00000004018
AA Change: A6E

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

possibly damaging
Transcript: ENSMUST00000136830
AA Change: A6E

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117073
Gene: ENSMUSG00000004018
AA Change: A6E

Domain	Start	End	E-Value	Type
Pfam:WD-3	8	75	7.8e-26	PFAM
Pfam:WD-3	71	123	4.1e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,320,705 (GRCm39)	V288A	possibly damaging	Het
Ankhd1	T	A	18: 36,711,810 (GRCm39)	S135R		Het
Axl	G	A	7: 25,460,846 (GRCm39)	T721I	probably damaging	Het
Blnk	G	A	19: 40,922,962 (GRCm39)	A388V	probably benign	Het
C8b	T	C	4: 104,641,631 (GRCm39)	V189A	probably damaging	Het
Ccdc33	G	C	9: 57,983,842 (GRCm39)	I452M	probably benign	Het
Cfap57	T	C	4: 118,412,048 (GRCm39)	T1199A	probably benign	Het
Chga	G	A	12: 102,528,144 (GRCm39)	V212M	probably benign	Het
Cspp1	T	A	1: 10,186,875 (GRCm39)	M887K	probably damaging	Het
Cyp3a16	G	C	5: 145,406,434 (GRCm39)	A6G	unknown	Het
Cyp4f17	G	T	17: 32,743,868 (GRCm39)	E349*	probably null	Het
Dnajc13	A	T	9: 104,085,039 (GRCm39)	D791E	probably benign	Het
Dpysl5	T	C	5: 30,935,397 (GRCm39)	Y167H	probably benign	Het
Dqx1	G	T	6: 83,036,759 (GRCm39)	Q254H	possibly damaging	Het
Eef1g	A	G	19: 8,955,383 (GRCm39)	T411A	probably benign	Het
Gabrr3	A	G	16: 59,227,830 (GRCm39)	Q29R	probably benign	Het
Gtf2h2	A	C	13: 100,617,778 (GRCm39)	L168R	probably damaging	Het
Hacl1	T	A	14: 31,338,338 (GRCm39)	Q413L	probably benign	Het
Hdc	A	T	2: 126,439,837 (GRCm39)	V372E	probably damaging	Het
Hr	A	T	14: 70,795,079 (GRCm39)	H208L	possibly damaging	Het
Htr6	T	C	4: 138,789,501 (GRCm39)	R255G	possibly damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kank2	A	G	9: 21,681,370 (GRCm39)	V747A	probably damaging	Het
Kif5c	A	G	2: 49,620,291 (GRCm39)	T508A	probably benign	Het
Klhdc8b	A	G	9: 108,326,927 (GRCm39)	V145A	probably damaging	Het
Klk1b21	T	A	7: 43,754,924 (GRCm39)	V73D	probably damaging	Het
Ksr1	T	A	11: 78,911,572 (GRCm39)	M737L	probably benign	Het
Macf1	T	C	4: 123,328,564 (GRCm39)	Y4723C	probably damaging	Het
Mcm7	T	C	5: 138,167,397 (GRCm39)	Y182C	probably damaging	Het
Mtf2	T	C	5: 108,252,398 (GRCm39)		probably null	Het
Nrxn2	A	T	19: 6,498,299 (GRCm39)	T255S	probably benign	Het
Or10v9	A	G	19: 11,832,666 (GRCm39)	L217P	probably damaging	Het
Or10x4	A	T	1: 174,218,649 (GRCm39)	T5S	probably damaging	Het
Or11g25	T	C	14: 50,723,707 (GRCm39)	L264P	probably damaging	Het
Or2z2	T	A	11: 58,345,999 (GRCm39)	T259S	possibly damaging	Het
Or52k2	T	A	7: 102,254,185 (GRCm39)	I208N	probably damaging	Het
Or9m1	A	T	2: 87,733,108 (GRCm39)	M304K	probably benign	Het
Pamr1	T	A	2: 102,464,766 (GRCm39)	V305E	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Peg10	C	T	6: 4,757,128 (GRCm39)	T568M	unknown	Het
Polr3a	A	G	14: 24,519,416 (GRCm39)	F664S	probably damaging	Het
Prb1a	T	A	6: 132,185,306 (GRCm39)	N109I	unknown	Het
Prdm2	T	C	4: 142,858,752 (GRCm39)	I1513V	probably benign	Het
Prkd3	A	C	17: 79,269,969 (GRCm39)	V564G	possibly damaging	Het
Prss16	A	G	13: 22,192,513 (GRCm39)	S151P	probably damaging	Het
Rnf150	C	T	8: 83,590,588 (GRCm39)		probably benign	Het
Rttn	A	G	18: 89,038,261 (GRCm39)	T786A	probably benign	Het
Scin	A	G	12: 40,113,236 (GRCm39)	V645A	possibly damaging	Het
Slc25a20	T	A	9: 108,557,398 (GRCm39)	M177K	probably benign	Het
Slc2a6	G	A	2: 26,914,334 (GRCm39)	S261L	possibly damaging	Het
Slc4a7	A	T	14: 14,796,115 (GRCm38)	D1118V	probably damaging	Het
Slc7a2	T	C	8: 41,358,709 (GRCm39)	W351R	probably damaging	Het
Sp8	G	A	12: 118,812,174 (GRCm39)	G10S	probably damaging	Het
St8sia2	A	G	7: 73,616,513 (GRCm39)	I175T	probably damaging	Het
Tas2r122	T	A	6: 132,688,779 (GRCm39)	N38I	probably benign	Het
Trim31	C	T	17: 37,209,382 (GRCm39)	T46M	possibly damaging	Het
Trim31	A	G	17: 37,220,145 (GRCm39)	K354E	probably benign	Het
Trio	G	A	15: 27,749,922 (GRCm39)	Q2260*	probably null	Het
Trpm1	T	C	7: 63,848,943 (GRCm39)	I63T	probably benign	Het
Ugt2b37	T	C	5: 87,399,636 (GRCm39)	K291E	probably benign	Het
Usp54	T	C	14: 20,627,162 (GRCm39)	T499A	probably benign	Het
Vmn1r35	T	C	6: 66,655,933 (GRCm39)	I246V	probably benign	Het
Vmn2r6	A	G	3: 64,464,277 (GRCm39)	S186P	probably benign	Het
Vmn2r76	T	A	7: 85,879,170 (GRCm39)	M377L	probably benign	Het
Zeb2	A	C	2: 44,878,637 (GRCm39)	M1243R	possibly 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
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
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'- AGGTCAGAATAATCCTGAACCG -3'
(R):5'- TATCGGCGCTACTTCTCCAG -3'

Sequencing Primer
(F):5'- TGAACCGTCAGGCCTGTG -3'
(R):5'- GGCTCTGCTACACTCTCCCAG -3'

Posted On

2022-01-20