Mutagenetix > Incidental Mutation

Incidental Mutation 'R7139:Fancl'

553286

Institutional Source

Beutler Lab

Gene Symbol

Fancl

Ensembl Gene

ENSMUSG00000004018

Gene Name

Fanconi anemia, complementation group L

Synonyms

gcd, 2010322C19Rik, Pog, B230118H11Rik, Phf9

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R7139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26337084-26421883 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26353358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 85 (M85V)

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: M85V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000004120
Gene: ENSMUSG00000004018
AA Change: M85V

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: ENSMUST00000109509
AA Change: M85V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105135
Gene: ENSMUSG00000004018
AA Change: M85V

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 benign
Transcript: ENSMUST00000136830

SMART Domains

Protein: ENSMUSP00000117073
Gene: ENSMUSG00000004018

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: 99.7%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,026,295 (GRCm39)	R272G	possibly damaging	Het
4930512M02Rik	T	A	11: 11,540,078 (GRCm39)	N179Y	unknown	Het
4930562C15Rik	A	T	16: 4,668,048 (GRCm39)	M480L	probably benign	Het
Abcd4	A	G	12: 84,653,072 (GRCm39)	C377R	probably benign	Het
Adam23	C	A	1: 63,584,736 (GRCm39)	D381E	probably damaging	Het
Angpt1	T	A	15: 42,539,747 (GRCm39)	Q37H	probably damaging	Het
Apeh	A	T	9: 107,969,345 (GRCm39)	F260I	probably damaging	Het
Cadps2	T	C	6: 23,410,888 (GRCm39)	Y681C	probably damaging	Het
Ccdc162	T	C	10: 41,542,717 (GRCm39)	M386V	possibly damaging	Het
Celsr2	T	C	3: 108,322,675 (GRCm39)	S46G	unknown	Het
Cfc1	T	C	1: 34,575,560 (GRCm39)	L78P	probably benign	Het
Chd7	T	C	4: 8,865,865 (GRCm39)	V2724A	probably benign	Het
Clca3a1	A	T	3: 144,461,063 (GRCm39)	V196E	possibly damaging	Het
Cma1	T	C	14: 56,181,273 (GRCm39)	H44R	probably damaging	Het
Cnot2	T	C	10: 116,330,924 (GRCm39)	N394S	probably benign	Het
Cplx3	A	T	9: 57,522,879 (GRCm39)	H160Q	probably benign	Het
Cstf3	A	T	2: 104,483,409 (GRCm39)	I372F	possibly damaging	Het
Cyb5rl	A	C	4: 106,928,208 (GRCm39)	I115L	probably benign	Het
D5Ertd579e	A	G	5: 36,771,320 (GRCm39)	L1025P	probably damaging	Het
Dmtn	T	C	14: 70,854,867 (GRCm39)	N36S	probably benign	Het
Dnah6	A	G	6: 73,112,663 (GRCm39)	V1647A	probably damaging	Het
Dock6	T	C	9: 21,712,572 (GRCm39)	Y2063C	probably damaging	Het
Dst	T	A	1: 34,338,888 (GRCm39)	D5149E	probably damaging	Het
Fgd2	T	A	17: 29,592,229 (GRCm39)	F387Y	probably damaging	Het
Fshr	A	T	17: 89,293,589 (GRCm39)	I363N	possibly damaging	Het
Glce	G	T	9: 61,977,716 (GRCm39)	S56*	probably null	Het
Gm26727	A	T	2: 67,263,381 (GRCm39)	S49T	unknown	Het
Gm36210	T	A	7: 4,902,277 (GRCm39)	D131V	probably damaging	Het
Gm5089	T	C	14: 122,673,403 (GRCm39)	D106G	unknown	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
H2-Eb2	C	T	17: 34,553,395 (GRCm39)	R194W	probably benign	Het
Hivep1	A	T	13: 42,313,430 (GRCm39)	E1890V	probably benign	Het
Ighv1-53	A	T	12: 115,122,441 (GRCm39)	C5*	probably null	Het
Ighv2-5	T	A	12: 113,649,219 (GRCm39)	Y78F	probably benign	Het
Il9	C	T	13: 56,628,426 (GRCm39)	V88I	probably benign	Het
Kidins220	A	G	12: 25,044,820 (GRCm39)	T163A	probably damaging	Het
Lama4	G	T	10: 38,951,491 (GRCm39)	D1079Y	probably damaging	Het
Lrrc34	T	C	3: 30,679,036 (GRCm39)	I354V	probably benign	Het
Macroh2a2	T	A	10: 61,593,674 (GRCm39)	M1L	unknown	Het
Mpeg1	A	T	19: 12,439,078 (GRCm39)	T179S	probably benign	Het
Mrgpra2a	A	T	7: 47,076,337 (GRCm39)	L307H	probably damaging	Het
Mst1	G	A	9: 107,960,027 (GRCm39)	R328H	probably damaging	Het
Muc21	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,933,525 (GRCm39)		probably benign	Het
Nav3	C	A	10: 109,689,338 (GRCm39)	S313I	probably benign	Het
Nmt2	T	G	2: 3,285,352 (GRCm39)	S7A	probably benign	Het
Nsmce1	T	C	7: 125,068,254 (GRCm39)	S197G	probably benign	Het
Ociad2	A	G	5: 73,493,218 (GRCm39)	V4A	probably benign	Het
Or56a41	G	T	7: 104,742,005 (GRCm39)	T7K	probably benign	Het
Osmr	T	C	15: 6,850,569 (GRCm39)	D679G	possibly damaging	Het
Pappa	T	A	4: 65,107,687 (GRCm39)	F699L	probably benign	Het
Parp8	T	A	13: 117,161,802 (GRCm39)	M40L	probably benign	Het
Pcyox1	A	T	6: 86,371,519 (GRCm39)	N122K	possibly damaging	Het
Pkd1l1	T	C	11: 8,840,737 (GRCm39)	S1224G		Het
Pkd1l3	T	A	8: 110,362,972 (GRCm39)	S1088T	probably damaging	Het
Prrt1	T	C	17: 34,850,051 (GRCm39)	V155A	probably benign	Het
Rbm6	A	C	9: 107,730,410 (GRCm39)	D79E	probably damaging	Het
Sec31b	A	T	19: 44,507,375 (GRCm39)	S819T	probably benign	Het
Slc22a27	A	T	19: 7,903,912 (GRCm39)	I75N	probably damaging	Het
Slc25a54	G	A	3: 109,005,905 (GRCm39)	G138R	probably damaging	Het
Slc6a12	T	C	6: 121,342,278 (GRCm39)	S612P	probably benign	Het
Slc7a2	A	T	8: 41,368,050 (GRCm39)	I605F	probably benign	Het
Slit2	A	G	5: 48,402,025 (GRCm39)	T805A	probably benign	Het
Strbp	A	T	2: 37,514,514 (GRCm39)	H308Q	probably benign	Het
Stxbp4	G	A	11: 90,497,835 (GRCm39)	Q155*	probably null	Het
Sybu	A	T	15: 44,541,110 (GRCm39)	N317K	possibly damaging	Het
Taok1	G	A	11: 77,462,459 (GRCm39)	S210F	probably damaging	Het
Tapbp	A	G	17: 34,139,022 (GRCm39)	D72G	possibly damaging	Het
Thbd	G	T	2: 148,248,461 (GRCm39)	T469K	probably benign	Het
Tia1	T	C	6: 86,404,670 (GRCm39)	Y302H	possibly damaging	Het
Tlr4	T	C	4: 66,758,520 (GRCm39)	F438L	probably benign	Het
Tmem235	C	T	11: 117,751,723 (GRCm39)	S49L	probably damaging	Het
Trip4	A	G	9: 65,792,503 (GRCm39)		probably benign	Het
Trrap	C	A	5: 144,739,988 (GRCm39)	L1137I	possibly damaging	Het
Vmo1	T	C	11: 70,404,674 (GRCm39)	E109G	probably benign	Het
Wdfy4	T	C	14: 32,873,535 (GRCm39)	Y258C		Het
Wdr91	T	G	6: 34,885,198 (GRCm39)	N121T	possibly damaging	Het
Zfp39	T	C	11: 58,781,385 (GRCm39)	H459R	probably damaging	Het
Zfp936	T	A	7: 42,839,715 (GRCm39)	I394K	possibly damaging	Het
Zpr1	G	A	9: 46,192,357 (GRCm39)	D423N	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
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
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'- AGTCGGCAGAAATAGACATTATGAC -3'
(R):5'- TGCAAGCAAGAATTCTGACTTC -3'

Sequencing Primer
(F):5'- GACAAATGTTTCGGTAATTAATGGC -3'
(R):5'- TTGGCCAAGTTAGCTGAGTCAAC -3'

Posted On

2019-05-15