Mutagenetix > Incidental Mutation

Incidental Mutation 'R7114:Fancl'

551693

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

045244-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R7114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26337084-26421883 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26357615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 114 (L114P)

Ref Sequence

ENSEMBL: ENSMUSP00000004120 (fasta)

Gene Model

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

AlphaFold

Q9CR14

Predicted Effect

probably damaging
Transcript: ENSMUST00000004120
AA Change: L114P

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

SMART Domains

Protein: ENSMUSP00000004120
Gene: ENSMUSG00000004018
AA Change: L114P

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 damaging
Transcript: ENSMUST00000109509
AA Change: L114P

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

SMART Domains

Protein: ENSMUSP00000105135
Gene: ENSMUSG00000004018
AA Change: L114P

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

probably damaging
Transcript: ENSMUST00000136830
AA Change: L95P

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

SMART Domains

Protein: ENSMUSP00000117073
Gene: ENSMUSG00000004018
AA Change: L95P

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

Meta Mutation Damage Score

0.8900

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (59/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,900,445 (GRCm39)	A1291T	probably benign	Het
Anks1b	G	A	10: 90,143,560 (GRCm39)	R523Q	probably damaging	Het
Arhgap12	T	A	18: 6,028,056 (GRCm39)	I690F	probably damaging	Het
Caln1	T	C	5: 130,868,124 (GRCm39)	V220A	possibly damaging	Het
Cd79b	T	A	11: 106,202,713 (GRCm39)	T263S	probably damaging	Het
Cep290	A	T	10: 100,379,220 (GRCm39)	K67N	probably damaging	Het
Col19a1	T	C	1: 24,377,017 (GRCm39)	T443A	possibly damaging	Het
Col25a1	A	G	3: 130,389,324 (GRCm39)	I636V	probably benign	Het
Col9a3	C	T	2: 180,245,590 (GRCm39)	P154S	unknown	Het
Cyp3a11	T	A	5: 145,795,593 (GRCm39)	M453L	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Eno1b	T	C	18: 48,180,560 (GRCm39)	V246A	possibly damaging	Het
Eogt	T	C	6: 97,092,965 (GRCm39)	Y404C	probably damaging	Het
Ephx3	T	A	17: 32,404,006 (GRCm39)	E380V	possibly damaging	Het
Flad1	C	T	3: 89,314,837 (GRCm39)	G287S	probably benign	Het
Gcm1	G	T	9: 77,967,061 (GRCm39)	K93N	probably damaging	Het
Golga3	T	A	5: 110,350,578 (GRCm39)	D704E	probably benign	Het
Grb14	A	C	2: 64,747,197 (GRCm39)	I451S	probably damaging	Het
Gtf3c3	T	C	1: 54,462,666 (GRCm39)	N366D	probably benign	Het
Hecw1	A	T	13: 14,486,356 (GRCm39)	H376Q	probably benign	Het
Helb	A	T	10: 119,941,161 (GRCm39)	V509E	probably benign	Het
Hephl1	C	T	9: 14,981,111 (GRCm39)	E774K	probably damaging	Het
Hkdc1	T	C	10: 62,229,622 (GRCm39)	E685G	probably damaging	Het
Igfn1	T	C	1: 135,894,519 (GRCm39)	T2016A	probably benign	Het
Igkv5-43	T	G	6: 69,800,515 (GRCm39)	Q57H	probably damaging	Het
Lamc3	T	A	2: 31,820,657 (GRCm39)	V1224E	probably damaging	Het
Lgals3bp	C	T	11: 118,284,309 (GRCm39)	W423*	probably null	Het
Mcm9	G	A	10: 53,414,669 (GRCm39)	T137I	possibly damaging	Het
Mdga1	C	A	17: 30,061,816 (GRCm39)		probably null	Het
Mocos	C	T	18: 24,799,572 (GRCm39)	P269S	probably damaging	Het
Naa40	A	G	19: 7,207,322 (GRCm39)	V134A	probably damaging	Het
Neb	G	A	2: 52,082,571 (GRCm39)	L5680F	probably damaging	Het
Nedd9	A	G	13: 41,492,099 (GRCm39)	V137A	probably benign	Het
Nup133	T	C	8: 124,642,112 (GRCm39)	I784V	probably benign	Het
Nup214	T	C	2: 31,915,256 (GRCm39)	S1147P	possibly damaging	Het
Or10x4	A	T	1: 174,218,805 (GRCm39)	M57L	probably damaging	Het
Or8g28	G	T	9: 39,169,897 (GRCm39)	Q24K	possibly damaging	Het
Plcb4	T	A	2: 135,824,043 (GRCm39)		probably null	Het
Pomt1	C	T	2: 32,143,848 (GRCm39)	T671I	probably benign	Het
Pomt2	G	T	12: 87,157,150 (GRCm39)	P723H	probably damaging	Het
Prpf8	T	A	11: 75,394,181 (GRCm39)	Y1741*	probably null	Het
Ptprs	C	G	17: 56,758,697 (GRCm39)	V175L	probably benign	Het
Slc36a4	T	C	9: 15,633,250 (GRCm39)	F95L	probably benign	Het
Smn1	C	T	13: 100,267,648 (GRCm39)	P225S	probably benign	Het
Snrpa	A	T	7: 26,891,174 (GRCm39)	I99N	probably benign	Het
Tgm5	G	T	2: 120,878,977 (GRCm39)	Y588*	probably null	Het
Tmeff2	T	A	1: 51,224,404 (GRCm39)		probably null	Het
Tmem120b	T	C	5: 123,254,741 (GRCm39)	F314S	probably damaging	Het
Trim43b	C	T	9: 88,967,661 (GRCm39)	R325H	probably benign	Het
Vmn1r26	C	T	6: 57,985,755 (GRCm39)	A145T	probably benign	Het
Wdfy4	T	C	14: 32,693,531 (GRCm39)		probably null	Het
Wnt5a	C	A	14: 28,244,713 (GRCm39)	T320K	probably damaging	Het
Wrn	AGCAGGTAATACATACCG	AG	8: 33,775,149 (GRCm39)		probably null	Het
Zfp398	T	C	6: 47,842,910 (GRCm39)	S321P	probably benign	Het
Zfp959	T	A	17: 56,205,501 (GRCm39)	C513S	possibly damaging	Het
Zfr2	A	G	10: 81,080,559 (GRCm39)	D411G	probably damaging	Het
Zkscan5	T	A	5: 145,147,988 (GRCm39)		probably benign	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
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'- TCCATGGTGACTCTGTGTGC -3'
(R):5'- TGTCTATAACTGAGAGCAAGCAAC -3'

Sequencing Primer
(F):5'- CCATCACCTGGGTTTTCTATAAAAAG -3'
(R):5'- CTGAGAGCAAGCAACAACCAGG -3'

Posted On

2019-05-15