Mutagenetix > Incidental Mutation

Incidental Mutation 'R2519:Fancg'

254165

Institutional Source

Beutler Lab

Gene Symbol

Fancg

Ensembl Gene

ENSMUSG00000028453

Gene Name

Fanconi anemia, complementation group G

Synonyms

Xrcc9

MMRRC Submission

040423-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R2519 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43002343-43010506 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43008787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 150 (L150H)

Ref Sequence

ENSEMBL: ENSMUSP00000030165 (fasta)

Gene Model

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

AlphaFold

Q9EQR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000030165
AA Change: L150H

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

SMART Domains

Protein: ENSMUSP00000030165
Gene: ENSMUSG00000028453
AA Change: L150H

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: ENSMUST00000148018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135362

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (72/73)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408J17Rik	G	A	10: 93,425,450 (GRCm39)		probably benign	Het
Abtb3	T	A	10: 85,487,475 (GRCm39)	V981D	probably damaging	Het
Actn1	A	T	12: 80,239,163 (GRCm39)	H247Q	probably damaging	Het
Adgre1	T	C	17: 57,717,956 (GRCm39)	C323R	probably damaging	Het
Adgrf2	T	A	17: 43,021,298 (GRCm39)	I509F	probably damaging	Het
Aknad1	A	T	3: 108,663,784 (GRCm39)	T331S	probably damaging	Het
Aldh1a3	T	C	7: 66,072,047 (GRCm39)	D39G	probably benign	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankhd1	T	G	18: 36,711,596 (GRCm39)		probably null	Het
Arfgef2	T	C	2: 166,723,164 (GRCm39)	S1535P	probably benign	Het
Bicc1	T	C	10: 70,766,474 (GRCm39)	E916G	probably damaging	Het
Birc2	A	T	9: 7,821,180 (GRCm39)	D381E	possibly damaging	Het
Carnmt1	A	G	19: 18,671,075 (GRCm39)	I316V	probably benign	Het
Cdk2ap1rt	A	G	11: 48,716,950 (GRCm39)	I76T	probably damaging	Het
Chd6	T	A	2: 160,871,796 (GRCm39)	Y213F	possibly damaging	Het
Coq7	A	T	7: 118,109,371 (GRCm39)	W226R	unknown	Het
Cyp2d9	G	A	15: 82,338,719 (GRCm39)		probably null	Het
Ddx42	T	A	11: 106,136,155 (GRCm39)	N635K	probably damaging	Het
Dmtf1	T	C	5: 9,179,323 (GRCm39)	T292A	possibly damaging	Het
Dnajb8	T	C	6: 88,199,857 (GRCm39)	V131A	probably benign	Het
Dock6	T	C	9: 21,727,629 (GRCm39)	E1367G	possibly damaging	Het
Dvl1	T	A	4: 155,940,000 (GRCm39)	Y377*	probably null	Het
Eif4g3	T	A	4: 137,824,629 (GRCm39)	F278Y	probably benign	Het
Fastkd5	T	C	2: 130,458,114 (GRCm39)	T159A	possibly damaging	Het
Fkrp	G	T	7: 16,544,877 (GRCm39)	Y328*	probably null	Het
Fmo3	A	T	1: 162,785,874 (GRCm39)	V372D	probably damaging	Het
Gsta5	T	G	9: 78,211,721 (GRCm39)	L161R	probably damaging	Het
Gtf2h4	C	A	17: 35,981,801 (GRCm39)	G143W	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn1	A	T	1: 150,649,571 (GRCm39)	Y638*	probably null	Het
Ighv11-2	T	A	12: 114,011,912 (GRCm39)	Q101L	probably damaging	Het
Lgalsl2	A	T	7: 5,362,833 (GRCm39)	I155F	probably damaging	Het
Lipf	G	T	19: 33,942,925 (GRCm39)	V78L	probably damaging	Het
Magi3	T	C	3: 103,923,081 (GRCm39)	E1212G	probably benign	Het
Mfap5	T	C	6: 122,502,948 (GRCm39)	S75P	probably damaging	Het
Mn1	C	A	5: 111,566,418 (GRCm39)	H129Q	possibly damaging	Het
Morc3	A	G	16: 93,659,427 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myo5c	A	G	9: 75,157,718 (GRCm39)	I224V	probably damaging	Het
Nup58	T	C	14: 60,460,808 (GRCm39)	T486A	probably benign	Het
Or5m13b	A	G	2: 85,753,951 (GRCm39)	Y113C	probably damaging	Het
Or8b46	T	A	9: 38,450,281 (GRCm39)	V30D	probably damaging	Het
Parp14	A	T	16: 35,678,573 (GRCm39)	L465Q	possibly damaging	Het
Pcare	C	T	17: 72,058,642 (GRCm39)	S345N	probably damaging	Het
Plcd3	A	T	11: 102,971,226 (GRCm39)	I110N	possibly damaging	Het
Prx	A	G	7: 27,217,668 (GRCm39)	E862G	probably benign	Het
Rad50	G	A	11: 53,598,012 (GRCm39)		probably benign	Het
Rbm15	A	G	3: 107,238,149 (GRCm39)	S750P	probably benign	Het
Reln	C	A	5: 22,549,367 (GRCm39)	A14S	unknown	Het
Rph3a	T	C	5: 121,092,485 (GRCm39)	Y372C	probably damaging	Het
Serpine2	T	A	1: 79,777,256 (GRCm39)	H187L	possibly damaging	Het
Slc11a2	T	C	15: 100,299,204 (GRCm39)	D122G	probably damaging	Het
Slc25a32	A	T	15: 38,959,450 (GRCm39)	V289E	probably damaging	Het
Slc25a46	A	T	18: 31,735,814 (GRCm39)	S142T	probably benign	Het
Srm	A	G	4: 148,675,961 (GRCm39)		probably null	Het
Srsf5	A	G	12: 80,995,870 (GRCm39)	D123G	probably damaging	Het
Stab1	A	T	14: 30,876,829 (GRCm39)	C832S	probably damaging	Het
Stab2	A	C	10: 86,770,704 (GRCm39)		probably benign	Het
Suds3	T	C	5: 117,233,018 (GRCm39)	N282S	probably damaging	Het
Taar9	A	T	10: 23,985,152 (GRCm39)	V94E	probably damaging	Het
Taf2	C	A	15: 54,915,643 (GRCm39)	A428S	probably benign	Het
Tbk1	G	T	10: 121,393,164 (GRCm39)	T462K	probably benign	Het
Tcaf2	T	G	6: 42,606,365 (GRCm39)	I530L	possibly damaging	Het
Tigd4	A	G	3: 84,501,221 (GRCm39)	Y46C	probably damaging	Het
Topors	G	T	4: 40,261,714 (GRCm39)	Y523*	probably null	Het
Tpte	T	C	8: 22,823,176 (GRCm39)		probably benign	Het
Trpv5	T	A	6: 41,651,284 (GRCm39)	Q254L	probably damaging	Het
Trpv6	G	A	6: 41,601,550 (GRCm39)	Q457*	probably null	Het
Ush2a	A	T	1: 187,999,304 (GRCm39)	M205L	probably benign	Het
Vmn1r90	A	T	7: 14,295,643 (GRCm39)	Y152N	probably damaging	Het
Vmn2r124	T	A	17: 18,294,280 (GRCm39)	V789D	probably damaging	Het
Vmn2r99	T	C	17: 19,598,970 (GRCm39)	I218T	probably damaging	Het
Vstm2b	T	C	7: 40,552,299 (GRCm39)	V248A	probably benign	Het
Wnk2	T	C	13: 49,224,505 (GRCm39)	K1019E	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp229	T	A	17: 21,964,568 (GRCm39)	F266Y	possibly damaging	Het
Zfp616	T	A	11: 73,975,094 (GRCm39)	C454*	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
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'- GTACCAGGCACAAACATGGTAC -3'
(R):5'- GGCTCTTTCAGAAAGGAAAACCC -3'

Sequencing Primer
(F):5'- TTACATTAGAAAACAGGAAGATGGGC -3'
(R):5'- TCTTTCAGAAAGGAAAACCCAGAGAG -3'

Posted On

2014-12-04