Mutagenetix > Incidental Mutation

Incidental Mutation 'R0734:Fancc'

68170

Institutional Source

Beutler Lab

Gene Symbol

Fancc

Ensembl Gene

ENSMUSG00000021461

Gene Name

Fanconi anemia, complementation group C

Synonyms

Facc

MMRRC Submission

038915-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.901) question?

Stock #

R0734 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

63452519-63645126 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63479656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 300 (R300G)

Ref Sequence

ENSEMBL: ENSMUSP00000124406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073029] [ENSMUST00000099444] [ENSMUST00000163091] [ENSMUST00000161977] [ENSMUST00000220684]

AlphaFold

P50652

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073029
AA Change: R300G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000072788
Gene: ENSMUSG00000021461
AA Change: R300G

Domain	Start	End	E-Value	Type
Pfam:Fanconi_C	1	558	1.8e-305	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099444
AA Change: R203G

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

SMART Domains

Protein: ENSMUSP00000097043
Gene: ENSMUSG00000021461
AA Change: R203G

Domain	Start	End	E-Value	Type
Pfam:Fanconi_C	1	461	5.8e-243	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160333

Predicted Effect

probably damaging
Transcript: ENSMUST00000163091
AA Change: R300G

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

SMART Domains

Protein: ENSMUSP00000124406
Gene: ENSMUSG00000021461
AA Change: R300G

Domain	Start	End	E-Value	Type
Pfam:Fanconi_C	1	517	4.8e-238	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161977
AA Change: R300G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123817
Gene: ENSMUSG00000021461
AA Change: R300G

Domain	Start	End	E-Value	Type
Pfam:Fanconi_C	1	558	1.8e-305	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161656

Predicted Effect

probably damaging
Transcript: ENSMUST00000220684
AA Change: R300G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220823

Meta Mutation Damage Score

0.7666

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.0%
20x: 93.3%

Validation Efficiency

99% (80/81)

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 C. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are grossly normal, but chromosome aberrations and sensitivity to DNA crosslinkers are seen. Both sexes have fewer germ cell numbers and impaired fertility. Marrow progenitors show decrease in colony forming ability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,668,198 (GRCm39)	S530T	probably benign	Het
Acer2	G	T	4: 86,835,796 (GRCm39)	K223N	probably benign	Het
Adam19	T	G	11: 46,018,230 (GRCm39)	C431G	probably damaging	Het
Adamts16	T	G	13: 70,886,600 (GRCm39)		probably benign	Het
Aox1	A	T	1: 58,344,500 (GRCm39)	E531V	probably benign	Het
Apaf1	A	T	10: 90,872,883 (GRCm39)	N720K	probably benign	Het
Atrnl1	T	A	19: 57,643,293 (GRCm39)	W394R	probably damaging	Het
Bcl6	T	C	16: 23,786,889 (GRCm39)	E634G	probably damaging	Het
Cfap65	T	A	1: 74,958,046 (GRCm39)	Y954F	probably damaging	Het
Cobl	A	G	11: 12,325,971 (GRCm39)	V168A	probably damaging	Het
Cped1	C	T	6: 22,085,040 (GRCm39)	P210S	probably damaging	Het
Crb1	C	T	1: 139,264,822 (GRCm39)	V199M	probably benign	Het
Cyp2j6	A	T	4: 96,412,081 (GRCm39)		probably benign	Het
Dhrs3	C	G	4: 144,653,746 (GRCm39)	S289W	probably damaging	Het
Dido1	T	G	2: 180,301,835 (GRCm39)	Q2023P	probably benign	Het
Dlg4	G	A	11: 69,933,531 (GRCm39)	G550R	probably damaging	Het
Dnah12	C	A	14: 26,521,970 (GRCm39)	H1928N	probably benign	Het
Dthd1	A	C	5: 62,996,753 (GRCm39)		probably benign	Het
Erg	C	A	16: 95,170,884 (GRCm39)	G269C	possibly damaging	Het
Erich6	G	A	3: 58,536,809 (GRCm39)		probably benign	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Fcer1g	T	A	1: 171,058,748 (GRCm39)	K47*	probably null	Het
Flt4	A	G	11: 49,517,544 (GRCm39)	T289A	possibly damaging	Het
Gcnt2	T	A	13: 41,013,997 (GRCm39)	F56Y	probably benign	Het
Gpatch8	G	T	11: 102,372,226 (GRCm39)	S437R	unknown	Het
Grin2a	T	A	16: 9,397,475 (GRCm39)	I871F	possibly damaging	Het
Hsd17b4	T	C	18: 50,303,844 (GRCm39)	V439A	possibly damaging	Het
Hykk	A	T	9: 54,853,716 (GRCm39)	K346M	possibly damaging	Het
Ifi208	T	C	1: 173,510,901 (GRCm39)	L352S	probably damaging	Het
Ikzf1	T	C	11: 11,708,195 (GRCm39)	V110A	probably damaging	Het
Irak3	A	T	10: 119,981,542 (GRCm39)		probably benign	Het
Lamp5	T	A	2: 135,900,950 (GRCm39)	V50E	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrch3	C	T	16: 32,817,853 (GRCm39)	R570*	probably null	Het
Map1lc3a	T	C	2: 155,118,896 (GRCm39)	V20A	possibly damaging	Het
Map3k14	C	A	11: 103,117,826 (GRCm39)	K655N	probably benign	Het
Mark2	A	G	19: 7,263,346 (GRCm39)		probably benign	Het
Mbtd1	G	A	11: 93,813,972 (GRCm39)	G205D	probably damaging	Het
Med13	T	C	11: 86,192,063 (GRCm39)	T861A	probably benign	Het
Meltf	T	A	16: 31,700,776 (GRCm39)	Y99N	probably damaging	Het
Mex3d	G	A	10: 80,217,366 (GRCm39)	T617I	possibly damaging	Het
Muc13	G	A	16: 33,623,452 (GRCm39)	V249I	probably damaging	Het
Myo18a	C	A	11: 77,738,230 (GRCm39)	P1688Q	probably damaging	Het
Naaladl1	A	T	19: 6,162,904 (GRCm39)		probably null	Het
Ncoa3	T	A	2: 165,911,111 (GRCm39)		probably benign	Het
Nf2	T	C	11: 4,770,409 (GRCm39)	T67A	probably benign	Het
Nin	A	G	12: 70,076,887 (GRCm39)	V1056A	probably benign	Het
Or1p1	A	T	11: 74,179,772 (GRCm39)	Q100L	probably damaging	Het
Or4d10c	T	A	19: 12,065,483 (GRCm39)	R224S	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
P3h1	T	C	4: 119,095,885 (GRCm39)	L331P	probably damaging	Het
Pabpc4l	T	C	3: 46,401,408 (GRCm39)	K79E	possibly damaging	Het
Pam	T	A	1: 97,792,087 (GRCm39)	R445*	probably null	Het
Pcdhb6	T	C	18: 37,468,387 (GRCm39)	I436T	probably damaging	Het
Piezo2	A	G	18: 63,174,794 (GRCm39)	Y1987H	probably damaging	Het
Plch2	G	A	4: 155,080,740 (GRCm39)	T477I	probably damaging	Het
Postn	G	A	3: 54,270,136 (GRCm39)	G72R	probably damaging	Het
Proca1	G	A	11: 78,092,628 (GRCm39)		probably benign	Het
Psip1	T	A	4: 83,381,825 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 76,058,834 (GRCm39)	P153L	probably damaging	Het
Rgl1	T	C	1: 152,430,051 (GRCm39)	D242G	probably damaging	Het
Ric1	T	A	19: 29,572,218 (GRCm39)	I671K	possibly damaging	Het
Rxrg	T	A	1: 167,455,013 (GRCm39)	C199S	probably damaging	Het
Sec24c	A	C	14: 20,743,813 (GRCm39)	D1006A	probably damaging	Het
Sec63	A	G	10: 42,672,204 (GRCm39)	T173A	probably benign	Het
Sfxn5	T	C	6: 85,244,847 (GRCm39)		probably benign	Het
Spam1	A	G	6: 24,796,948 (GRCm39)	I300V	probably benign	Het
Spem1	A	G	11: 69,712,097 (GRCm39)	L189P	probably damaging	Het
Sptbn2	A	T	19: 4,798,151 (GRCm39)	R1959*	probably null	Het
Timeless	C	T	10: 128,085,929 (GRCm39)	R935W	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trim24	T	C	6: 37,896,400 (GRCm39)	Y286H	possibly damaging	Het
Ttyh2	A	G	11: 114,601,019 (GRCm39)		probably benign	Het
Zbtb21	C	T	16: 97,753,827 (GRCm39)	C180Y	probably damaging	Het
Zfp746	T	C	6: 48,041,833 (GRCm39)	T298A	probably damaging	Het

Other mutations in Fancc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Fancc	APN	13	63,548,059 (GRCm39)	missense	probably damaging	1.00
IGL00846:Fancc	APN	13	63,488,270 (GRCm39)	missense	possibly damaging	0.89
IGL01404:Fancc	APN	13	63,509,452 (GRCm39)	missense	probably damaging	1.00
IGL02592:Fancc	APN	13	63,508,011 (GRCm39)	missense	probably damaging	1.00
IGL02625:Fancc	APN	13	63,545,965 (GRCm39)	missense	probably damaging	0.99
canneloni	UTSW	13	63,479,637 (GRCm39)	intron	probably benign
macaroni	UTSW	13	63,469,679 (GRCm39)	critical splice donor site	probably null
R0362:Fancc	UTSW	13	63,545,970 (GRCm39)	missense	possibly damaging	0.86
R0554:Fancc	UTSW	13	63,465,283 (GRCm39)	missense	probably benign	0.32
R0626:Fancc	UTSW	13	63,465,205 (GRCm39)	missense	probably damaging	0.97
R0627:Fancc	UTSW	13	63,465,292 (GRCm39)	missense	probably damaging	0.99
R0726:Fancc	UTSW	13	63,471,225 (GRCm39)	missense	probably benign	0.01
R1363:Fancc	UTSW	13	63,509,412 (GRCm39)	missense	probably damaging	1.00
R1587:Fancc	UTSW	13	63,488,246 (GRCm39)	missense	probably benign	0.32
R1922:Fancc	UTSW	13	63,478,381 (GRCm39)	missense	possibly damaging	0.89
R4585:Fancc	UTSW	13	63,495,378 (GRCm39)	missense	probably benign	0.14
R4586:Fancc	UTSW	13	63,495,378 (GRCm39)	missense	probably benign	0.14
R4608:Fancc	UTSW	13	63,479,637 (GRCm39)	intron	probably benign
R5159:Fancc	UTSW	13	63,469,679 (GRCm39)	critical splice donor site	probably null
R5401:Fancc	UTSW	13	63,550,767 (GRCm39)	missense	probably damaging	1.00
R5561:Fancc	UTSW	13	63,465,201 (GRCm39)	missense	possibly damaging	0.85
R5699:Fancc	UTSW	13	63,478,446 (GRCm39)	splice site	probably null
R6200:Fancc	UTSW	13	63,508,062 (GRCm39)	missense	probably damaging	1.00
R6448:Fancc	UTSW	13	63,488,242 (GRCm39)	missense	probably damaging	0.98
R7562:Fancc	UTSW	13	63,550,867 (GRCm39)	splice site	probably null
R7615:Fancc	UTSW	13	63,465,372 (GRCm39)	critical splice acceptor site	probably null
R7805:Fancc	UTSW	13	63,508,056 (GRCm39)	missense	possibly damaging	0.86
R7864:Fancc	UTSW	13	63,548,073 (GRCm39)	nonsense	probably null
R8080:Fancc	UTSW	13	63,550,837 (GRCm39)	missense
R8966:Fancc	UTSW	13	63,495,285 (GRCm39)	missense	probably benign	0.32
R8989:Fancc	UTSW	13	63,548,090 (GRCm39)	missense	possibly damaging	0.93
R9464:Fancc	UTSW	13	63,550,769 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- CTGCATCTTTACTTGGAGCTGGGAC -3'
(R):5'- CATGCTCAGAGAGAACCACTGCTG -3'

Sequencing Primer
(F):5'- GCTGCATGGATATTTCAGTACC -3'
(R):5'- ctggcattttatgggtttttctg -3'

Posted On

2013-09-03