Mutagenetix > Incidental Mutation

Incidental Mutation 'R7527:Fancg'

583047

Institutional Source

Beutler Lab

Gene Symbol

Fancg

Ensembl Gene

ENSMUSG00000028453

Gene Name

Fanconi anemia, complementation group G

Synonyms

Xrcc9

MMRRC Submission

045599-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.517) question?

Stock #

R7527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43002343-43010506 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 43010116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030165 (fasta)

Gene Model

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

AlphaFold

Q9EQR6

Predicted Effect

probably benign
Transcript: ENSMUST00000030165

SMART Domains

Protein: ENSMUSP00000030165
Gene: ENSMUSG00000028453

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,218,556 (GRCm39)		probably null	Het
Abcc10	A	G	17: 46,623,830 (GRCm39)	S810P	possibly damaging	Het
Adam22	T	C	5: 8,132,239 (GRCm39)	H138R	possibly damaging	Het
Adcyap1	T	A	17: 93,510,257 (GRCm39)	L95*	probably null	Het
Adgrl4	C	A	3: 151,144,887 (GRCm39)	T12N	probably benign	Het
Alpi	T	C	1: 87,026,677 (GRCm39)	N438S	probably benign	Het
Ankrd44	T	C	1: 54,687,483 (GRCm39)	N979D	probably benign	Het
Ankrd60	A	C	2: 173,419,966 (GRCm39)	S57A	probably benign	Het
Arfgef3	G	A	10: 18,522,377 (GRCm39)	P550S	probably benign	Het
Btbd16	A	T	7: 130,422,202 (GRCm39)	D390V	probably damaging	Het
Cacna2d4	T	C	6: 119,248,208 (GRCm39)	V374A	probably benign	Het
Cdcp1	A	T	9: 123,014,172 (GRCm39)	F201I	probably benign	Het
Cdh15	A	T	8: 123,588,865 (GRCm39)	D313V	probably damaging	Het
Cfap157	A	G	2: 32,669,890 (GRCm39)	L231P	possibly damaging	Het
Chl1	T	G	6: 103,688,162 (GRCm39)	C1001G	probably damaging	Het
Cmtr2	A	G	8: 110,948,770 (GRCm39)	H360R	probably damaging	Het
Csmd1	C	T	8: 16,261,732 (GRCm39)	A922T	probably damaging	Het
Glt8d2	A	T	10: 82,488,403 (GRCm39)	S356T	unknown	Het
Gm19410	T	A	8: 36,269,386 (GRCm39)	C1074S	probably damaging	Het
Gm9195	C	T	14: 72,711,310 (GRCm39)	C376Y	possibly damaging	Het
Gnai3	G	A	3: 108,025,693 (GRCm39)	R129C		Het
Golph3	T	G	15: 12,343,404 (GRCm39)		probably null	Het
H2bc18	T	A	3: 96,177,186 (GRCm39)	V40D	possibly damaging	Het
Hk1	C	A	10: 62,140,561 (GRCm39)	V105F	probably damaging	Het
Hoxd8	A	G	2: 74,536,001 (GRCm39)	Y37C	probably damaging	Het
Inava	T	A	1: 136,142,122 (GRCm39)	D659V	possibly damaging	Het
Jun	G	T	4: 94,939,234 (GRCm39)	P92Q	probably damaging	Het
Klhl14	C	T	18: 21,784,597 (GRCm39)	V277I	probably damaging	Het
Lrrc51	C	T	7: 101,569,843 (GRCm39)		probably null	Het
Man2c1	T	A	9: 57,045,100 (GRCm39)	Y429*	probably null	Het
Myo18a	T	A	11: 77,734,406 (GRCm39)	C1476S	probably benign	Het
Neb	G	C	2: 52,066,635 (GRCm39)	T6155R	probably damaging	Het
Niban3	C	G	8: 72,059,342 (GRCm39)	C568W	probably damaging	Het
Nuf2	T	C	1: 169,326,422 (GRCm39)	E443G	possibly damaging	Het
Or10j5	C	T	1: 172,784,511 (GRCm39)	H50Y	probably benign	Het
Or4c15	A	G	2: 88,760,434 (GRCm39)	V75A	probably benign	Het
Or5d37	A	T	2: 87,923,954 (GRCm39)	C109S	probably damaging	Het
Or7g32	A	G	9: 19,408,685 (GRCm39)	I214V	probably damaging	Het
Osmr	A	G	15: 6,856,603 (GRCm39)	S515P	probably damaging	Het
Pik3r5	T	C	11: 68,367,177 (GRCm39)	L84P	probably damaging	Het
Plcl1	T	C	1: 55,736,273 (GRCm39)	I538T	probably damaging	Het
Plxnb1	G	T	9: 108,929,929 (GRCm39)	V262L	probably damaging	Het
Pprc1	T	C	19: 46,057,804 (GRCm39)	S1320P	unknown	Het
Pramel47	A	G	5: 95,490,409 (GRCm39)	D347G	probably benign	Het
Prap1	G	A	7: 139,676,120 (GRCm39)		probably null	Het
Psg23	A	T	7: 18,348,699 (GRCm39)	V36D	probably damaging	Het
Ptgr1	A	G	4: 58,982,887 (GRCm39)	Y49H	probably damaging	Het
Ptprr	A	G	10: 116,087,104 (GRCm39)	T528A	probably benign	Het
Rapgef6	T	C	11: 54,525,787 (GRCm39)	S541P	unknown	Het
Rnf17	A	T	14: 56,753,895 (GRCm39)	D1534V	probably damaging	Het
Sdk1	T	G	5: 141,778,731 (GRCm39)	S236R	possibly damaging	Het
Sepsecs	A	G	5: 52,801,393 (GRCm39)	M423T	possibly damaging	Het
Serpina1f	T	G	12: 103,658,167 (GRCm39)	Y246S	probably benign	Het
Sftpb	T	A	6: 72,282,048 (GRCm39)	V46E	possibly damaging	Het
Slc4a1ap	G	A	5: 31,691,475 (GRCm39)	V424I	probably benign	Het
Slc5a4b	G	A	10: 75,946,742 (GRCm39)	T10M	probably benign	Het
Slc6a16	T	C	7: 44,922,063 (GRCm39)	W664R	probably damaging	Het
Snx8	T	C	5: 140,341,827 (GRCm39)	E138G	probably benign	Het
Sox6	T	C	7: 115,376,408 (GRCm39)	E108G	probably benign	Het
Sptan1	A	T	2: 29,870,209 (GRCm39)	I120F	probably damaging	Het
Sptbn4	T	C	7: 27,075,015 (GRCm39)	E1452G	possibly damaging	Het
Stac2	T	A	11: 97,930,452 (GRCm39)	E372V	probably damaging	Het
Taco1	A	T	11: 105,962,795 (GRCm39)	I161F	probably damaging	Het
Taf1d	C	A	9: 15,220,133 (GRCm39)	D127E	possibly damaging	Het
Tenm2	T	A	11: 36,097,803 (GRCm39)	N482Y	probably damaging	Het
Tenm3	A	G	8: 48,729,635 (GRCm39)	V1457A	possibly damaging	Het
Tmem200c	A	T	17: 69,148,671 (GRCm39)	H418L	probably benign	Het
Tmem81	T	C	1: 132,435,884 (GRCm39)	V230A	probably benign	Het
Tnn	C	T	1: 159,946,074 (GRCm39)	V915I	possibly damaging	Het
Trav8d-2	A	T	14: 53,280,154 (GRCm39)	Y48F	possibly damaging	Het
Trpm2	T	C	10: 77,801,894 (GRCm39)	N57S	probably benign	Het
Ttn	G	A	2: 76,598,383 (GRCm39)	T19510M	probably damaging	Het
Ubl7	T	C	9: 57,820,167 (GRCm39)	L73P	unknown	Het
Uso1	A	G	5: 92,347,734 (GRCm39)	D845G	possibly damaging	Het
Utrn	G	T	10: 12,277,126 (GRCm39)	P3397Q	possibly damaging	Het
Vmn2r60	AG	A	7: 41,845,158 (GRCm39)		probably null	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
R1581:Fancg	UTSW	4	43,007,039 (GRCm39)	missense	probably damaging	1.00
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
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'- AGATCATTACAAAGCCGCTTTC -3'
(R):5'- TTGAAGACAACCAACCGCGG -3'

Sequencing Primer
(F):5'- AAAGCCGCTTTCTGACATCTTGAG -3'
(R):5'- AGTGTTGCAGCTTGGCCAAC -3'

Posted On

2019-10-17