Mutagenetix > Incidental Mutation

Incidental Mutation 'R1581:Fancg'

171385

Institutional Source

Beutler Lab

Gene Symbol

Fancg

Ensembl Gene

ENSMUSG00000028453

Gene Name

Fanconi anemia, complementation group G

Synonyms

Xrcc9

MMRRC Submission

039618-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.517) question?

Stock #

R1581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43002343-43010506 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43007039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 246 (P246L)

Ref Sequence

ENSEMBL: ENSMUSP00000030165 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030165]

AlphaFold

Q9EQR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000030165
AA Change: P246L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030165
Gene: ENSMUSG00000028453
AA Change: P246L

Domain	Start	End	E-Value	Type
low complexity region	51	74	N/A	INTRINSIC
low complexity region	131	144	N/A	INTRINSIC
low complexity region	164	179	N/A	INTRINSIC
low complexity region	190	199	N/A	INTRINSIC
Pfam:TPR_1	251	280	4.1e-6	PFAM
Pfam:TPR_2	251	281	7.3e-5	PFAM
Pfam:TPR_8	251	281	4.5e-3	PFAM
low complexity region	302	317	N/A	INTRINSIC
low complexity region	401	418	N/A	INTRINSIC
Blast:TPR	458	491	4e-9	BLAST
Blast:TPR	518	550	2e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125570

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148018

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008]
PHENOTYPE: Females and males homozygous for targeted null mutations exhibit hypogonadism and reduced fertility. Cytogeneic analysis showed somatic chromosome aberrations occur at a higher spontaneous rate and are easier to induce than in normal cells. Cells are also more sensitive to mitomycin C. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,063,347 (GRCm39)	E447G	probably benign	Het
Actn4	T	C	7: 28,598,071 (GRCm39)	T510A	probably benign	Het
Adgrb3	A	G	1: 25,133,153 (GRCm39)	M1311T	possibly damaging	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bicdl1	G	T	5: 115,789,326 (GRCm39)		probably benign	Het
Bmyc	T	C	2: 25,597,346 (GRCm39)	S137P	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Casc3	C	T	11: 98,713,644 (GRCm39)	T292I	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cibar1	T	A	4: 12,155,745 (GRCm39)		probably null	Het
Cnnm2	A	G	19: 46,751,562 (GRCm39)	T451A	probably damaging	Het
Eed	T	C	7: 89,629,676 (GRCm39)	K20E	possibly damaging	Het
Eps15	T	A	4: 109,220,383 (GRCm39)	M180K	probably benign	Het
Esr1	T	C	10: 4,947,905 (GRCm39)	I486T	probably damaging	Het
Etnppl	A	G	3: 130,422,393 (GRCm39)	I207V	possibly damaging	Het
Fcrl1	G	A	3: 87,293,030 (GRCm39)	C249Y	possibly damaging	Het
Foxred2	A	G	15: 77,839,961 (GRCm39)	F110L	possibly damaging	Het
Fsip2	A	T	2: 82,816,626 (GRCm39)	N4120Y	probably damaging	Het
Gm4884	C	T	7: 40,693,255 (GRCm39)	S408L	probably benign	Het
Gm9476	T	C	10: 100,142,474 (GRCm39)		noncoding transcript	Het
Gria1	T	C	11: 57,127,836 (GRCm39)		probably null	Het
H6pd	T	A	4: 150,066,971 (GRCm39)	I472F	possibly damaging	Het
Hydin	A	T	8: 111,137,092 (GRCm39)	M632L	probably benign	Het
Hyou1	C	T	9: 44,300,167 (GRCm39)	P819S	probably damaging	Het
Il6st	A	G	13: 112,618,075 (GRCm39)	E163G	probably damaging	Het
Kcnk1	T	C	8: 126,722,278 (GRCm39)	V27A	possibly damaging	Het
Kdelr3	T	C	15: 79,407,114 (GRCm39)		probably null	Het
Klk1b22	A	G	7: 43,765,399 (GRCm39)	N117S	possibly damaging	Het
Klrh1	T	C	6: 129,752,796 (GRCm39)	D3G	probably benign	Het
Lpp	C	A	16: 24,500,591 (GRCm39)	C134*	probably null	Het
Lrrc37a	G	A	11: 103,347,843 (GRCm39)	R2951*	probably null	Het
Luzp2	T	A	7: 54,899,238 (GRCm39)	D285E	possibly damaging	Het
Ly75	C	T	2: 60,158,237 (GRCm39)	R1016H	probably damaging	Het
Mesp2	T	A	7: 79,462,289 (GRCm39)	S282T	possibly damaging	Het
Nav3	T	C	10: 109,659,289 (GRCm39)	D776G	probably damaging	Het
Nr2e1	T	C	10: 42,443,964 (GRCm39)	T253A	probably benign	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or1r1	A	T	11: 73,875,347 (GRCm39)	L29H	probably damaging	Het
Padi6	T	C	4: 140,463,147 (GRCm39)	Y146C	probably damaging	Het
Pank4	C	T	4: 155,059,108 (GRCm39)	R414W	probably damaging	Het
Pclo	T	G	5: 14,571,296 (GRCm39)	I227S	probably benign	Het
Plppr4	A	G	3: 117,121,915 (GRCm39)	V221A	possibly damaging	Het
Pradc1	G	A	6: 85,425,568 (GRCm39)	R25C	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rnd2	A	G	11: 101,362,022 (GRCm39)	T192A	probably benign	Het
Rtbdn	A	G	8: 85,681,695 (GRCm39)	E131G	probably benign	Het
Ryr2	A	G	13: 11,809,449 (GRCm39)	V792A	probably benign	Het
Sacs	G	T	14: 61,451,128 (GRCm39)	Q4391H	probably damaging	Het
Scd2	A	G	19: 44,286,538 (GRCm39)	S123G	probably benign	Het
Septin9	A	G	11: 117,181,421 (GRCm39)	R74G	probably damaging	Het
Sipa1l2	T	A	8: 126,218,356 (GRCm39)	Q327L	probably damaging	Het
Skor1	T	C	9: 63,053,505 (GRCm39)	T127A	probably damaging	Het
Sphk2	A	G	7: 45,362,920 (GRCm39)	V57A	probably damaging	Het
Tfec	A	T	6: 16,844,243 (GRCm39)	D101E	probably damaging	Het
Tmem43	T	A	6: 91,455,717 (GRCm39)	H109Q	probably benign	Het
Tmem67	C	A	4: 12,047,814 (GRCm39)	S839I	probably damaging	Het
Trpv5	T	C	6: 41,630,074 (GRCm39)	Y672C	probably damaging	Het
Ttc39d	A	C	17: 80,523,913 (GRCm39)	S191R	probably benign	Het
Ttll1	C	T	15: 83,380,478 (GRCm39)	V296M	probably damaging	Het
Upp2	A	C	2: 58,664,177 (GRCm39)	K130T	possibly damaging	Het
Vmn2r5	A	G	3: 64,398,640 (GRCm39)	C780R	probably damaging	Het
Wars1	C	A	12: 108,841,635 (GRCm39)	E171*	probably null	Het
Zeb2	A	T	2: 44,887,012 (GRCm39)	S637T	probably damaging	Het
Zfp27	T	A	7: 29,595,549 (GRCm39)	T139S	possibly damaging	Het
Zfp941	A	T	7: 140,392,033 (GRCm39)	L442Q	probably benign	Het

Other mutations in Fancg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Fancg	APN	4	43,003,910 (GRCm39)	nonsense	probably null
IGL02072:Fancg	APN	4	43,007,062 (GRCm39)	missense	probably benign	0.00
IGL02184:Fancg	APN	4	43,006,872 (GRCm39)	missense	possibly damaging	0.79
IGL02989:Fancg	APN	4	43,007,121 (GRCm39)	splice site	probably benign
R0671:Fancg	UTSW	4	43,002,998 (GRCm39)	missense	probably benign	0.00
R1853:Fancg	UTSW	4	43,009,727 (GRCm39)	missense	probably benign	0.00
R2046:Fancg	UTSW	4	43,004,604 (GRCm39)	missense	probably damaging	1.00
R2519:Fancg	UTSW	4	43,008,787 (GRCm39)	missense	probably damaging	1.00
R4282:Fancg	UTSW	4	43,003,830 (GRCm39)	missense	probably damaging	1.00
R4397:Fancg	UTSW	4	43,008,897 (GRCm39)	missense	probably benign	0.02
R4583:Fancg	UTSW	4	43,002,991 (GRCm39)	missense	probably benign
R4671:Fancg	UTSW	4	43,005,272 (GRCm39)	missense	probably benign	0.01
R4887:Fancg	UTSW	4	43,006,866 (GRCm39)	missense	probably benign	0.18
R5309:Fancg	UTSW	4	43,003,019 (GRCm39)	missense	probably benign	0.23
R5312:Fancg	UTSW	4	43,003,019 (GRCm39)	missense	probably benign	0.23
R5325:Fancg	UTSW	4	43,006,564 (GRCm39)	missense	probably damaging	0.99
R5379:Fancg	UTSW	4	43,002,998 (GRCm39)	missense	probably benign	0.00
R5386:Fancg	UTSW	4	43,007,076 (GRCm39)	nonsense	probably null
R5649:Fancg	UTSW	4	43,008,736 (GRCm39)	missense	probably damaging	1.00
R5788:Fancg	UTSW	4	43,007,130 (GRCm39)	intron	probably benign
R5802:Fancg	UTSW	4	43,006,582 (GRCm39)	missense	probably benign
R6217:Fancg	UTSW	4	43,010,084 (GRCm39)	missense	probably benign	0.03
R6698:Fancg	UTSW	4	43,007,034 (GRCm39)	missense	probably benign	0.00
R7092:Fancg	UTSW	4	43,004,831 (GRCm39)	missense	probably benign	0.03
R7527:Fancg	UTSW	4	43,010,116 (GRCm39)	start gained	probably benign
R7664:Fancg	UTSW	4	43,010,066 (GRCm39)	missense	probably benign	0.01
R7979:Fancg	UTSW	4	43,004,963 (GRCm39)	missense	probably damaging	1.00
R8129:Fancg	UTSW	4	43,005,036 (GRCm39)	splice site	probably null
R8473:Fancg	UTSW	4	43,004,963 (GRCm39)	missense	probably damaging	1.00
R8885:Fancg	UTSW	4	43,007,266 (GRCm39)	critical splice donor site	probably null
R9166:Fancg	UTSW	4	43,006,800 (GRCm39)	missense	probably benign	0.04
R9243:Fancg	UTSW	4	43,006,565 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- TCTCTGTGGATTTCCCTGGGAGAAC -3'
(R):5'- ACAGGACTAGAGCCTCTTGACTGTC -3'

Sequencing Primer
(F):5'- TTTCCCTGGGAGAACAGAAAG -3'
(R):5'- AGACTCAGTCCTCTGAGGATCTG -3'

Posted On

2014-04-13