Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02592:Fancc'

299769

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fancc

Ensembl Gene

ENSMUSG00000021461

Gene Name

Fanconi anemia, complementation group C

Synonyms

Facc

Accession Numbers

Essential gene?

Probably essential (E-score: 0.901) question?

Stock #

IGL02592

Quality Score

Status

Chromosome

Chromosomal Location

63452519-63645126 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63508011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 175 (R175W)

Ref Sequence

ENSEMBL: ENSMUSP00000124406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073029] [ENSMUST00000099444] [ENSMUST00000159024] [ENSMUST00000161977] [ENSMUST00000162971] [ENSMUST00000162375] [ENSMUST00000163091] [ENSMUST00000220684]

AlphaFold

P50652

Predicted Effect

probably damaging
Transcript: ENSMUST00000073029
AA Change: R175W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072788
Gene: ENSMUSG00000021461
AA Change: R175W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099444
AA Change: R78W

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

SMART Domains

Protein: ENSMUSP00000097043
Gene: ENSMUSG00000021461
AA Change: R78W

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

Predicted Effect

unknown
Transcript: ENSMUST00000159024
AA Change: R192W

SMART Domains

Protein: ENSMUSP00000124325
Gene: ENSMUSG00000021461
AA Change: R192W

Domain	Start	End	E-Value	Type
Pfam:Fanconi_C	1	199	1.8e-117	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160333

Predicted Effect

unknown
Transcript: ENSMUST00000160735
AA Change: R88W

SMART Domains

Protein: ENSMUSP00000125710
Gene: ENSMUSG00000021461
AA Change: R88W

Domain	Start	End	E-Value	Type
Pfam:Fanconi_C	1	91	5.1e-37	PFAM
Pfam:Fanconi_C	86	117	5.6e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161507

Predicted Effect

probably damaging
Transcript: ENSMUST00000161977
AA Change: R175W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123817
Gene: ENSMUSG00000021461
AA Change: R175W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162971
AA Change: R175W

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

SMART Domains

Protein: ENSMUSP00000123972
Gene: ENSMUSG00000021461
AA Change: R175W

Domain	Start	End	E-Value	Type
Pfam:Fanconi_C	1	229	5.7e-136	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000162375
AA Change: R175W

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

SMART Domains

Protein: ENSMUSP00000124759
Gene: ENSMUSG00000021461
AA Change: R175W

Domain	Start	End	E-Value	Type
Pfam:Fanconi_C	1	212	1.6e-125	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163091
AA Change: R175W

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

SMART Domains

Protein: ENSMUSP00000124406
Gene: ENSMUSG00000021461
AA Change: R175W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221054

Predicted Effect

probably damaging
Transcript: ENSMUST00000220684
AA Change: R175W

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

Coding Region Coverage

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadps	G	A	14: 12,473,465 (GRCm38)	R899C	probably damaging	Het
Cass4	T	C	2: 172,258,248 (GRCm39)	L82P	probably benign	Het
Cd53	C	A	3: 106,670,601 (GRCm39)	C144F	probably damaging	Het
Gm10717	A	T	9: 3,026,287 (GRCm39)	Y195F	probably damaging	Het
Gpr149	T	C	3: 62,511,231 (GRCm39)	D256G	possibly damaging	Het
Kdm5b	T	A	1: 134,552,591 (GRCm39)	M1189K	probably damaging	Het
Lvrn	T	A	18: 46,983,658 (GRCm39)	C134S	probably damaging	Het
Mroh8	A	T	2: 157,058,889 (GRCm39)	Y926N	probably damaging	Het
Nfxl1	A	G	5: 72,671,572 (GRCm39)	S896P	probably benign	Het
Orc4	A	T	2: 48,823,090 (GRCm39)		probably null	Het
Pcsk6	T	A	7: 65,618,776 (GRCm39)	H447Q	probably damaging	Het
Rfx6	C	A	10: 51,592,119 (GRCm39)	Q121K	probably damaging	Het
Rnase6	T	C	14: 51,367,982 (GRCm39)	Y125H	probably benign	Het
Sbno1	A	T	5: 124,538,872 (GRCm39)	Y494N	probably damaging	Het
Sppl3	G	A	5: 115,233,970 (GRCm39)	V347M	probably damaging	Het
Tlr12	G	A	4: 128,511,479 (GRCm39)	T257M	probably benign	Het
Tmem132e	A	T	11: 82,325,462 (GRCm39)	D154V	probably damaging	Het
Zfp345	A	G	2: 150,315,229 (GRCm39)	Y103H	probably benign	Het
Zfp947	T	A	17: 22,365,233 (GRCm39)	Q147L	possibly 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
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
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

Posted On

2015-04-16