Mutagenetix > Incidental Mutation

Incidental Mutation 'R7615:Fancc'

588874

Institutional Source

Beutler Lab

Gene Symbol

Fancc

Ensembl Gene

ENSMUSG00000021461

Gene Name

Fanconi anemia, complementation group C

Synonyms

Facc

MMRRC Submission

045683-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R7615 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63285043-63497278 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 63317558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000072788 (fasta)

Gene Model

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

AlphaFold

P50652

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 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

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 benign
Transcript: ENSMUST00000220684

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (101/101)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,497,849 (GRCm38)	I320V	possibly damaging	Het
Adat2	A	G	10: 13,553,276 (GRCm38)	K4R	probably benign	Het
Adgb	G	A	10: 10,436,010 (GRCm38)	L226F	probably damaging	Het
Adgrb3	C	T	1: 25,098,897 (GRCm38)	V1192I	probably damaging	Het
Ahsa2	T	A	11: 23,496,750 (GRCm38)	N71I	possibly damaging	Het
Amigo2	T	G	15: 97,245,342 (GRCm38)	T400P	probably damaging	Het
Ankhd1	A	T	18: 36,656,773 (GRCm38)	Q466L		Het
Auh	T	C	13: 52,919,013 (GRCm38)	I111V	probably benign	Het
Brwd1	A	G	16: 96,033,839 (GRCm38)	F942L	probably damaging	Het
C1qtnf7	A	G	5: 43,616,144 (GRCm38)	N262D	probably damaging	Het
Cdh9	T	A	15: 16,856,230 (GRCm38)	S785R	probably damaging	Het
Celsr3	A	G	9: 108,837,652 (GRCm38)	T2046A	possibly damaging	Het
Cep170b	T	C	12: 112,744,665 (GRCm38)	V1493A	probably damaging	Het
Cep290	C	T	10: 100,492,681 (GRCm38)	R111W	probably benign	Het
Chd2	T	A	7: 73,441,642 (GRCm38)	H1617L	probably damaging	Het
Clnk	T	C	5: 38,706,698 (GRCm38)	D404G	probably damaging	Het
Col18a1	C	T	10: 77,067,005 (GRCm38)	G795D	probably damaging	Het
Csf3r	T	A	4: 126,037,656 (GRCm38)	Y477*	probably null	Het
Ddx58	T	A	4: 40,229,653 (GRCm38)	I89F	possibly damaging	Het
Dnah17	T	A	11: 118,110,547 (GRCm38)	K857*	probably null	Het
Dnah2	T	G	11: 69,435,304 (GRCm38)	I3674L	probably damaging	Het
Dnah6	A	C	6: 73,095,206 (GRCm38)	I2431S	possibly damaging	Het
Eml6	T	A	11: 29,802,501 (GRCm38)	I971F	possibly damaging	Het
Fam135b	A	T	15: 71,463,323 (GRCm38)	I674N	probably damaging	Het
Gabrb2	A	C	11: 42,626,742 (GRCm38)	K464Q	probably benign	Het
Gbp4	T	A	5: 105,122,982 (GRCm38)	D261V	possibly damaging	Het
Gdf3	A	G	6: 122,606,916 (GRCm38)	V164A	probably benign	Het
Gm19410	A	G	8: 35,796,359 (GRCm38)	D978G	probably damaging	Het
Gm20730	C	T	6: 43,081,774 (GRCm38)	G35R	probably null	Het
Gm9733	A	G	3: 15,320,485 (GRCm38)	V119A	probably damaging	Het
Grin2b	G	A	6: 135,923,364 (GRCm38)	T173I	probably damaging	Het
Gtf3c3	A	T	1: 54,423,572 (GRCm38)	V344E	possibly damaging	Het
Hsd3b5	A	G	3: 98,630,104 (GRCm38)	I32T	probably damaging	Het
Ido1	G	C	8: 24,593,188 (GRCm38)	L74V	probably damaging	Het
Igkv1-88	T	A	6: 68,862,373 (GRCm38)	D85V	probably damaging	Het
Il22ra1	A	G	4: 135,737,459 (GRCm38)	I159V	probably benign	Het
Iqgap1	A	G	7: 80,751,346 (GRCm38)	V531A	probably benign	Het
Iqgap1	A	T	7: 80,730,100 (GRCm38)	F1175Y	probably damaging	Het
Itga1	T	A	13: 114,996,922 (GRCm38)	Q484L	probably null	Het
Itga11	A	T	9: 62,744,018 (GRCm38)	E281V	probably benign	Het
Kpna3	T	C	14: 61,372,962 (GRCm38)	N343S	possibly damaging	Het
Larp1b	A	G	3: 41,035,816 (GRCm38)	N133S	probably benign	Het
Larp1b	A	G	3: 41,033,534 (GRCm38)	K64E	possibly damaging	Het
Lctl	T	A	9: 64,122,110 (GRCm38)	L161H	probably damaging	Het
Mlip	A	G	9: 77,230,483 (GRCm38)	S381P	probably damaging	Het
Mroh9	A	G	1: 163,046,032 (GRCm38)	I518T	probably benign	Het
Mst1r	A	G	9: 107,920,012 (GRCm38)	Q1360R	probably benign	Het
Muc5b	T	A	7: 141,864,892 (GRCm38)	C3858*	probably null	Het
Naip1	A	T	13: 100,425,776 (GRCm38)	H960Q	probably benign	Het
Narfl	C	T	17: 25,782,129 (GRCm38)	P452S	probably benign	Het
Neo1	A	T	9: 58,884,503 (GRCm38)	S1321T	probably benign	Het
Nid2	C	A	14: 19,802,530 (GRCm38)	T1102K	probably damaging	Het
Nsmaf	C	T	4: 6,408,563 (GRCm38)	V739M	probably damaging	Het
Olfr1019	T	A	2: 85,841,657 (GRCm38)	M45L	probably benign	Het
Olfr1167	T	C	2: 88,149,518 (GRCm38)	Q167R	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,590 (GRCm38)	I156T	probably damaging	Het
Olfr727	T	G	14: 50,126,989 (GRCm38)	S137R	probably benign	Het
Olfr97	T	G	17: 37,231,450 (GRCm38)	K307Q	probably benign	Het
Osbpl9	G	A	4: 109,086,339 (GRCm38)	P159S	probably damaging	Het
Parpbp	A	G	10: 88,093,637 (GRCm38)	S450P	probably damaging	Het
Pdgfrb	A	G	18: 61,064,046 (GRCm38)	T185A	probably benign	Het
Pkd1	T	C	17: 24,593,502 (GRCm38)	V3803A	probably damaging	Het
Plau	A	T	14: 20,839,466 (GRCm38)	K200*	probably null	Het
Plce1	A	T	19: 38,524,665 (GRCm38)	Q136L	probably benign	Het
Plekhd1	C	T	12: 80,722,445 (GRCm38)	T493I	probably benign	Het
Pofut1	T	C	2: 153,259,418 (GRCm38)	S31P	unknown	Het
Prlr	T	A	15: 10,325,924 (GRCm38)	I243N	probably damaging	Het
Ptgis	A	G	2: 167,223,988 (GRCm38)	L174P	probably damaging	Het
Ralgapb	T	A	2: 158,450,270 (GRCm38)	I792K	probably damaging	Het
Retreg3	C	T	11: 101,102,980 (GRCm38)	S136N	probably damaging	Het
Rnf213	C	T	11: 119,467,297 (GRCm38)	T4291M		Het
Rtn1	A	G	12: 72,304,143 (GRCm38)	Y431H	probably damaging	Het
Rwdd3	A	G	3: 121,171,604 (GRCm38)		probably benign	Het
Scyl3	A	T	1: 163,950,338 (GRCm38)		probably null	Het
Sh2b2	G	T	5: 136,219,657 (GRCm38)	Q510K	probably damaging	Het
Sh2b3	G	A	5: 121,818,700 (GRCm38)	P333S	probably benign	Het
Slc27a6	A	T	18: 58,609,183 (GRCm38)	N490Y	probably damaging	Het
Slc45a1	C	T	4: 150,638,545 (GRCm38)	R294Q	probably benign	Het
Sorl1	A	C	9: 41,977,582 (GRCm38)	I1974S	possibly damaging	Het
Specc1l	C	A	10: 75,263,286 (GRCm38)	N857K	probably benign	Het
Speg	T	C	1: 75,429,242 (GRCm38)	L3030P	probably damaging	Het
Spsb1	A	C	4: 149,906,900 (GRCm38)	D70E	probably benign	Het
Srsf11	A	G	3: 158,016,425 (GRCm38)	S270P	unknown	Het
Ssr3	A	C	3: 65,387,792 (GRCm38)	V100G	probably damaging	Het
Synpo	G	A	18: 60,604,475 (GRCm38)	T133I	probably damaging	Het
Tas2r120	T	G	6: 132,657,810 (GRCm38)	V285G	probably benign	Het
Tenm4	T	A	7: 96,845,926 (GRCm38)	V1187D	probably damaging	Het
Tmed8	C	A	12: 87,181,388 (GRCm38)		probably null	Het
Tmem51	G	A	4: 142,037,564 (GRCm38)	T61M	probably damaging	Het
Tonsl	A	T	15: 76,630,607 (GRCm38)	D1132E	probably benign	Het
Tor1aip1	C	T	1: 156,007,584 (GRCm38)	V358I	possibly damaging	Het
Txlna	A	T	4: 129,630,319 (GRCm38)	M415K	probably damaging	Het
Tyms	T	A	5: 30,073,560 (GRCm38)		probably benign	Het
Uggt2	G	T	14: 119,089,269 (GRCm38)	L177I	probably benign	Het
Uqcrh	T	C	4: 116,069,879 (GRCm38)	H74R	probably benign	Het
Wnk1	A	T	6: 119,932,738 (GRCm38)	S33T	probably benign	Het
Zfp553	T	A	7: 127,236,016 (GRCm38)	C248S	probably damaging	Het
Zfp574	G	A	7: 25,080,576 (GRCm38)	C341Y	possibly damaging	Het
Zfp729b	T	C	13: 67,591,498 (GRCm38)	T883A	possibly damaging	Het
Zfp738	T	A	13: 67,670,203 (GRCm38)	K556N	probably damaging	Het

Other mutations in Fancc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Fancc	APN	13	63,400,245 (GRCm38)	missense	probably damaging	1.00
IGL00846:Fancc	APN	13	63,340,456 (GRCm38)	missense	possibly damaging	0.89
IGL01404:Fancc	APN	13	63,361,638 (GRCm38)	missense	probably damaging	1.00
IGL02592:Fancc	APN	13	63,360,197 (GRCm38)	missense	probably damaging	1.00
IGL02625:Fancc	APN	13	63,398,151 (GRCm38)	missense	probably damaging	0.99
canneloni	UTSW	13	63,331,823 (GRCm38)	intron	probably benign
macaroni	UTSW	13	63,321,865 (GRCm38)	critical splice donor site	probably null
R0362:Fancc	UTSW	13	63,398,156 (GRCm38)	missense	possibly damaging	0.86
R0554:Fancc	UTSW	13	63,317,469 (GRCm38)	missense	probably benign	0.32
R0626:Fancc	UTSW	13	63,317,391 (GRCm38)	missense	probably damaging	0.97
R0627:Fancc	UTSW	13	63,317,478 (GRCm38)	missense	probably damaging	0.99
R0726:Fancc	UTSW	13	63,323,411 (GRCm38)	missense	probably benign	0.01
R0734:Fancc	UTSW	13	63,331,842 (GRCm38)	missense	probably damaging	1.00
R1363:Fancc	UTSW	13	63,361,598 (GRCm38)	missense	probably damaging	1.00
R1587:Fancc	UTSW	13	63,340,432 (GRCm38)	missense	probably benign	0.32
R1922:Fancc	UTSW	13	63,330,567 (GRCm38)	missense	possibly damaging	0.89
R4585:Fancc	UTSW	13	63,347,564 (GRCm38)	missense	probably benign	0.14
R4586:Fancc	UTSW	13	63,347,564 (GRCm38)	missense	probably benign	0.14
R4608:Fancc	UTSW	13	63,331,823 (GRCm38)	intron	probably benign
R5159:Fancc	UTSW	13	63,321,865 (GRCm38)	critical splice donor site	probably null
R5401:Fancc	UTSW	13	63,402,953 (GRCm38)	missense	probably damaging	1.00
R5561:Fancc	UTSW	13	63,317,387 (GRCm38)	missense	possibly damaging	0.85
R5699:Fancc	UTSW	13	63,330,632 (GRCm38)	splice site	probably null
R6200:Fancc	UTSW	13	63,360,248 (GRCm38)	missense	probably damaging	1.00
R6448:Fancc	UTSW	13	63,340,428 (GRCm38)	missense	probably damaging	0.98
R7562:Fancc	UTSW	13	63,403,053 (GRCm38)	splice site	probably null
R7805:Fancc	UTSW	13	63,360,242 (GRCm38)	missense	possibly damaging	0.86
R7864:Fancc	UTSW	13	63,400,259 (GRCm38)	nonsense	probably null
R8080:Fancc	UTSW	13	63,403,023 (GRCm38)	missense
R8966:Fancc	UTSW	13	63,347,471 (GRCm38)	missense	probably benign	0.32
R8989:Fancc	UTSW	13	63,400,276 (GRCm38)	missense	possibly damaging	0.93
R9464:Fancc	UTSW	13	63,402,955 (GRCm38)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- CTTACATGGGTGACAGCTTCC -3'
(R):5'- TCCTTGGTGGGCAAGATGAAAG -3'

Sequencing Primer
(F):5'- GGTGACAGCTTCCCAGACAATTG -3'
(R):5'- TGAAAGAACGGCAGGAAATTTC -3'

Posted On

2019-10-24