Mutagenetix > Incidental Mutation

Incidental Mutation 'R5699:Fancc'

ID

446587

Institutional Source

Beutler Lab

Gene Symbol

Fancc

Ensembl Gene

ENSMUSG00000021461

Gene Name

Fanconi anemia, complementation group C

Synonyms

Facc

MMRRC Submission

043327-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.901) question?

question?

Stock #

R5699 (G1)

Quality Score

225

Status

Not validated

Chromosome

13

Chromosomal Location

63452519-63645126 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 63478446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152119 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000073029

SMART Domains

Protein: ENSMUSP00000072788
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000073029

SMART Domains

Protein: ENSMUSP00000072788
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000073029

SMART Domains

Protein: ENSMUSP00000072788
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000099444

SMART Domains

Protein: ENSMUSP00000097043
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000099444

SMART Domains

Protein: ENSMUSP00000097043
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000099444

SMART Domains

Protein: ENSMUSP00000097043
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000099444

SMART Domains

Protein: ENSMUSP00000097043
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000099444

SMART Domains

Protein: ENSMUSP00000097043
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000099444

SMART Domains

Protein: ENSMUSP00000097043
Gene: ENSMUSG00000021461

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159056

Predicted Effect

probably benign
Transcript: ENSMUST00000159152

SMART Domains

Protein: ENSMUSP00000124560
Gene: ENSMUSG00000021458

Domain	Start	End	E-Value	Type
Leuk-A4-hydro_C	1	113	4.63e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160278

Predicted Effect

probably null
Transcript: ENSMUST00000161977

SMART Domains

Protein: ENSMUSP00000123817
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000161977

SMART Domains

Protein: ENSMUSP00000123817
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000161977

SMART Domains

Protein: ENSMUSP00000123817
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000163091

SMART Domains

Protein: ENSMUSP00000124406
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000163091

SMART Domains

Protein: ENSMUSP00000124406
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000163091

SMART Domains

Protein: ENSMUSP00000124406
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000163091

SMART Domains

Protein: ENSMUSP00000124406
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000163091

SMART Domains

Protein: ENSMUSP00000124406
Gene: ENSMUSG00000021461

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

Predicted Effect

probably null
Transcript: ENSMUST00000163091

SMART Domains

Protein: ENSMUSP00000124406
Gene: ENSMUSG00000021461

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160333

Predicted Effect

probably null
Transcript: ENSMUST00000220684

Predicted Effect

probably null
Transcript: ENSMUST00000220684

Predicted Effect

probably null
Transcript: ENSMUST00000220684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220823

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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 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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,225,320 (GRCm39)		noncoding transcript	Het
4930486L24Rik	A	G	13: 61,001,410 (GRCm39)	F106L	possibly damaging	Het
Adam11	A	T	11: 102,664,466 (GRCm39)	M385L	probably benign	Het
Adgre1	C	T	17: 57,788,007 (GRCm39)	P925S	probably benign	Het
Adh7	G	A	3: 137,932,087 (GRCm39)	A234T	probably benign	Het
Ano2	A	G	6: 125,849,703 (GRCm39)	E475G	probably damaging	Het
C2cd4c	A	G	10: 79,448,385 (GRCm39)	V254A	probably benign	Het
Car13	A	G	3: 14,715,749 (GRCm39)	Y89C	probably damaging	Het
Cd38	A	G	5: 44,057,728 (GRCm39)	K100R	probably damaging	Het
Cdh11	A	G	8: 103,361,175 (GRCm39)	I721T	probably damaging	Het
Cdh2	G	A	18: 16,779,579 (GRCm39)	Q161*	probably null	Het
Clk1	T	C	1: 58,459,354 (GRCm39)	K135R	probably damaging	Het
Col5a1	G	A	2: 27,887,611 (GRCm39)	G961R	unknown	Het
Cpt1b	T	A	15: 89,308,476 (GRCm39)	I151F	probably benign	Het
Cyp51	A	G	5: 4,151,213 (GRCm39)	F139L	probably damaging	Het
Disp1	TTGA	T	1: 182,870,119 (GRCm39)		probably null	Het
Dnah8	T	C	17: 31,029,298 (GRCm39)	I4089T	probably benign	Het
Dnali1	C	T	4: 124,952,843 (GRCm39)	V227M	possibly damaging	Het
Eml4	T	G	17: 83,717,514 (GRCm39)	S29A	probably benign	Het
Eps8l3	C	A	3: 107,786,895 (GRCm39)	P24T	probably benign	Het
Firrm	A	T	1: 163,785,120 (GRCm39)	V753D	probably benign	Het
Grid2	G	A	6: 63,885,975 (GRCm39)	A124T	probably damaging	Het
Ikbke	C	T	1: 131,204,204 (GRCm39)		probably null	Het
Kyat1	G	A	2: 30,076,662 (GRCm39)	A284V	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lmbrd2	G	T	15: 9,175,269 (GRCm39)	L393F	probably benign	Het
Lrrc26	T	A	2: 25,180,536 (GRCm39)	L179Q	probably damaging	Het
Mlx	A	G	11: 100,979,520 (GRCm39)	D113G	possibly damaging	Het
Myod1	A	G	7: 46,026,407 (GRCm39)	K104R	probably damaging	Het
Nwd1	G	A	8: 73,429,602 (GRCm39)		probably null	Het
Or56b2j	T	G	7: 104,353,200 (GRCm39)	V142G	probably damaging	Het
Or5b118	A	G	19: 13,448,336 (GRCm39)	M1V	probably null	Het
Or6c3	A	C	10: 129,308,746 (GRCm39)	N62H	probably damaging	Het
Pacsin3	A	T	2: 91,093,126 (GRCm39)	Y206F	probably damaging	Het
Pcdhgb5	T	A	18: 37,864,970 (GRCm39)	V255E	probably damaging	Het
Pdp1	T	C	4: 11,960,907 (GRCm39)	D468G	possibly damaging	Het
Pgr	C	T	9: 8,900,600 (GRCm39)		probably benign	Het
Prrt2	T	A	7: 126,617,899 (GRCm39)	Y345F	probably benign	Het
Rbbp8nl	T	C	2: 179,920,461 (GRCm39)	T515A	probably damaging	Het
Rc3h1	G	T	1: 160,757,823 (GRCm39)	R47L	probably damaging	Het
Rfpl4b	T	A	10: 38,697,281 (GRCm39)	I107F	possibly damaging	Het
Rsbn1	T	C	3: 103,869,801 (GRCm39)	F754S	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scn3a	T	C	2: 65,337,608 (GRCm39)	T630A	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slco1a5	C	A	6: 142,194,542 (GRCm39)	C367F	probably damaging	Het
Slit1	A	G	19: 41,613,959 (GRCm39)		probably null	Het
Slit2	G	A	5: 48,378,333 (GRCm39)		probably null	Het
Snrnp40	G	T	4: 130,258,958 (GRCm39)	G122V	possibly damaging	Het
Stk16	T	A	1: 75,190,248 (GRCm39)	M111K	probably damaging	Het
Tbc1d2	T	C	4: 46,616,298 (GRCm39)	I477V	probably benign	Het
Tll1	T	A	8: 64,570,974 (GRCm39)	E199D	probably damaging	Het
Trhde	A	T	10: 114,424,407 (GRCm39)	D459E	probably benign	Het
Ttn	T	C	2: 76,541,881 (GRCm39)	R25375G	possibly damaging	Het
Tubgcp2	A	T	7: 139,578,701 (GRCm39)	M757K	possibly damaging	Het
Ubap1l	T	A	9: 65,279,337 (GRCm39)	V212D	possibly damaging	Het
Ubqln5	A	G	7: 103,778,632 (GRCm39)	V64A	possibly damaging	Het
Usp47	A	G	7: 111,709,204 (GRCm39)	M1337V	probably benign	Het
Vmn1r201	T	A	13: 22,659,409 (GRCm39)	Y208N	probably damaging	Het
Xkr8	C	T	4: 132,455,368 (GRCm39)	R335H	probably damaging	Het
Zbtb49	A	T	5: 38,373,870 (GRCm39)	C25S	probably damaging	Het
Zeb2	T	A	2: 44,887,800 (GRCm39)	N404I	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
R0734:Fancc	UTSW	13	63,479,656 (GRCm39)	missense	probably damaging	1.00
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
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'- AAAGATCCTTTCAGCTCGTTACC -3'
(R):5'- AGCTCTGTCCTCACTGGTAAAAG -3'

Sequencing Primer
(F):5'- AGCTCGTTACCAAATGCCTGTAG -3'
(R):5'- GCAGAACACTTGTTGCTAGC -3'

Posted On

2016-11-21