Mutagenetix > Incidental Mutation

Incidental Mutation 'R2046:Fancg'

221938

Institutional Source

Beutler Lab

Gene Symbol

Fancg

Ensembl Gene

ENSMUSG00000028453

Gene Name

Fanconi anemia, complementation group G

Synonyms

Xrcc9

MMRRC Submission

040053-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R2046 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

43002343-43010506 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43004604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 484 (C484R)

Ref Sequence

ENSEMBL: ENSMUSP00000030165 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030164] [ENSMUST00000030165]

AlphaFold

Q9EQR6

Predicted Effect

probably benign
Transcript: ENSMUST00000030164

SMART Domains

Protein: ENSMUSP00000030164
Gene: ENSMUSG00000028452

Domain	Start	End	E-Value	Type
CDC48_N	25	108	6.85e-27	SMART
CDC48_2	125	191	3.77e-15	SMART
AAA	237	373	7.87e-24	SMART
AAA	510	649	2e-25	SMART
Pfam:Vps4_C	710	762	3.5e-7	PFAM
low complexity region	775	794	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000030165
AA Change: C484R

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

SMART Domains

Protein: ENSMUSP00000030165
Gene: ENSMUSG00000028453
AA Change: C484R

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: ENSMUST00000133915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148182

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134083

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (71/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,553 (GRCm39)	D84V	probably damaging	Het
Abcc5	A	T	16: 20,218,567 (GRCm39)	S272T	possibly damaging	Het
Adgre4	A	G	17: 56,085,847 (GRCm39)	N49D	possibly damaging	Het
Ap2b1	A	T	11: 83,227,212 (GRCm39)	Y328F	probably benign	Het
Arhgef33	G	C	17: 80,680,895 (GRCm39)	E678D	probably benign	Het
Arid2	G	A	15: 96,267,268 (GRCm39)	V583I	probably damaging	Het
Bdkrb1	T	A	12: 105,570,985 (GRCm39)	S184T	probably benign	Het
Bend3	T	C	10: 43,387,842 (GRCm39)	F745S	probably damaging	Het
Card10	A	T	15: 78,671,673 (GRCm39)	V597E	possibly damaging	Het
Casp3	T	A	8: 47,082,761 (GRCm39)		probably benign	Het
Ccnb2	A	G	9: 70,316,629 (GRCm39)	V340A	probably benign	Het
Cdkl3	G	T	11: 51,917,677 (GRCm39)	V325L	probably benign	Het
Clec4n	T	A	6: 123,223,463 (GRCm39)	N153K	probably benign	Het
Crtac1	C	T	19: 42,322,492 (GRCm39)	V83I	probably damaging	Het
Cul9	C	A	17: 46,854,659 (GRCm39)	L14F	probably damaging	Het
Dgka	T	C	10: 128,559,404 (GRCm39)	Y519C	probably damaging	Het
Dhrs7	T	G	12: 72,699,040 (GRCm39)	K314T	possibly damaging	Het
Dnaaf9	T	A	2: 130,652,837 (GRCm39)	I42L	possibly damaging	Het
Dnah10	G	T	5: 124,873,405 (GRCm39)	K2542N	probably benign	Het
Dock5	A	T	14: 68,049,591 (GRCm39)	V731E	probably benign	Het
Dpy19l1	T	A	9: 24,334,455 (GRCm39)	H571L	probably damaging	Het
Dzip1	A	T	14: 119,159,890 (GRCm39)	I106N	probably damaging	Het
Eif2ak4	A	T	2: 118,281,889 (GRCm39)		probably benign	Het
Epha4	T	C	1: 77,483,799 (GRCm39)	Y70C	probably damaging	Het
Eps15	T	C	4: 109,227,793 (GRCm39)	F344S	probably damaging	Het
Erbb4	C	T	1: 68,337,482 (GRCm39)	R612Q	probably benign	Het
Fam83h	T	C	15: 75,874,787 (GRCm39)	H850R	probably benign	Het
Fzd9	A	G	5: 135,278,538 (GRCm39)	I449T	probably damaging	Het
Gm10647	A	G	9: 66,705,519 (GRCm39)		probably benign	Het
Iigp1c	T	A	18: 60,378,571 (GRCm39)	H35Q	probably benign	Het
Itga11	C	T	9: 62,634,979 (GRCm39)	L86F	probably damaging	Het
Lamc2	C	T	1: 153,017,511 (GRCm39)	R492H	probably benign	Het
Marchf6	A	G	15: 31,486,580 (GRCm39)	V325A	probably benign	Het
Myo5b	A	T	18: 74,710,526 (GRCm39)	I47F	probably benign	Het
Nek9	T	A	12: 85,367,481 (GRCm39)		probably benign	Het
Nelfb	T	A	2: 25,096,323 (GRCm39)	N262I	probably damaging	Het
Neurl4	A	G	11: 69,799,523 (GRCm39)	D942G	probably damaging	Het
Nipbl	G	A	15: 8,353,951 (GRCm39)	P1729S	probably benign	Het
Nr4a3	A	G	4: 48,067,807 (GRCm39)	T468A	possibly damaging	Het
Nrm	G	A	17: 36,175,109 (GRCm39)	V146I	probably benign	Het
Or8h9	C	A	2: 86,789,077 (GRCm39)	A242S	possibly damaging	Het
Pitx3	T	C	19: 46,125,618 (GRCm39)	E42G	possibly damaging	Het
Pkd1l2	C	T	8: 117,726,694 (GRCm39)	A2271T	probably damaging	Het
Pofut2	A	G	10: 77,096,428 (GRCm39)	N51S	probably damaging	Het
Ppp1r3a	T	C	6: 14,722,103 (GRCm39)	E273G	probably benign	Het
Psme4	A	G	11: 30,767,723 (GRCm39)		probably benign	Het
Pus7l	T	C	15: 94,438,666 (GRCm39)	I60V	probably benign	Het
Pygo2	T	A	3: 89,340,455 (GRCm39)	N284K	possibly damaging	Het
Ralgapa1	C	T	12: 55,741,945 (GRCm39)	C1368Y	probably damaging	Het
Rbm45	G	A	2: 76,205,742 (GRCm39)	G198E	probably benign	Het
Reln	T	C	5: 22,147,625 (GRCm39)	I2442V	probably benign	Het
Rmi1	T	C	13: 58,555,772 (GRCm39)	V7A	probably benign	Het
Rsf1	T	C	7: 97,310,884 (GRCm39)	L538P	probably benign	Het
Rsph4a	T	G	10: 33,790,539 (GRCm39)		probably benign	Het
Sardh	A	T	2: 27,105,094 (GRCm39)	D676E	possibly damaging	Het
Sh3tc2	A	G	18: 62,123,914 (GRCm39)	M892V	probably benign	Het
Slc38a11	A	G	2: 65,188,529 (GRCm39)	F80S	probably damaging	Het
Slc6a2	C	A	8: 93,699,554 (GRCm39)	S194*	probably null	Het
Slco2b1	A	G	7: 99,339,686 (GRCm39)	F86L	probably damaging	Het
Smc3	G	A	19: 53,627,845 (GRCm39)	D875N	probably benign	Het
Sp100	G	A	1: 85,636,786 (GRCm39)	E575K	possibly damaging	Het
Spns2	A	G	11: 72,349,866 (GRCm39)	L196P	possibly damaging	Het
Taf8	A	G	17: 47,801,201 (GRCm39)	S261P	probably benign	Het
Trim2	A	G	3: 84,115,596 (GRCm39)	L86P	probably damaging	Het
Ttn	C	A	2: 76,738,138 (GRCm39)	V4134F	probably benign	Het
Ush2a	A	G	1: 188,089,124 (GRCm39)	T360A	probably benign	Het
Usp28	T	A	9: 48,950,375 (GRCm39)	C935S	probably damaging	Het
Vps37d	T	A	5: 135,102,831 (GRCm39)	M134L	probably benign	Het
Vwa2	T	G	19: 56,894,010 (GRCm39)	V329G	probably benign	Het
Zfp110	A	G	7: 12,583,349 (GRCm39)	R666G	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
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
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'- GCACAACACTTTCAGGAGTTAAG -3'
(R):5'- GCCTGGTCACAACTAAAGGC -3'

Sequencing Primer
(F):5'- GTGGCAAACTCGTATATTGCCAGC -3'
(R):5'- CTGGTCACAACTAAAGGCTCAGAAAG -3'

Posted On

2014-08-25