Mutagenetix > Incidental Mutation

Incidental Mutation 'R0362:Fancc'

36284

Institutional Source

Beutler Lab

Gene Symbol

Fancc

Ensembl Gene

ENSMUSG00000021461

Gene Name

Fanconi anemia, complementation group C

Synonyms

Facc

MMRRC Submission

038568-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.901) question?

Stock #

R0362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63452519-63645126 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63545970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 91 (I91K)

Ref Sequence

ENSEMBL: ENSMUSP00000123817 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073029] [ENSMUST00000099444] [ENSMUST00000159024] [ENSMUST00000160617] [ENSMUST00000163091] [ENSMUST00000161977] [ENSMUST00000162971] [ENSMUST00000162375] [ENSMUST00000220684] [ENSMUST00000160931]

AlphaFold

P50652

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073029
AA Change: I91K

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072788
Gene: ENSMUSG00000021461
AA Change: I91K

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

Predicted Effect

probably benign
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

unknown
Transcript: ENSMUST00000159024
AA Change: I108K

SMART Domains

Protein: ENSMUSP00000124325
Gene: ENSMUSG00000021461
AA Change: I108K

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

probably benign
Transcript: ENSMUST00000160617

Predicted Effect

unknown
Transcript: ENSMUST00000160735
AA Change: I4K

SMART Domains

Protein: ENSMUSP00000125710
Gene: ENSMUSG00000021461
AA Change: I4K

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

probably benign
Transcript: ENSMUST00000163091
AA Change: I91K

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124406
Gene: ENSMUSG00000021461
AA Change: I91K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161977
AA Change: I91K

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123817
Gene: ENSMUSG00000021461
AA Change: I91K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162971
AA Change: I91K

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123972
Gene: ENSMUSG00000021461
AA Change: I91K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162375
AA Change: I91K

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124759
Gene: ENSMUSG00000021461
AA Change: I91K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161507

Predicted Effect

probably benign
Transcript: ENSMUST00000220684
AA Change: I91K

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000160931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221054

Meta Mutation Damage Score

0.5853

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.8%
20x: 94.0%

Validation Efficiency

99% (104/105)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,563,261 (GRCm39)	Q401R	probably benign	Het
Acp3	A	G	9: 104,191,626 (GRCm39)	F220S	probably damaging	Het
Adam7	A	G	14: 68,747,105 (GRCm39)		probably benign	Het
Adamts6	A	G	13: 104,526,584 (GRCm39)		probably null	Het
Ascc3	T	C	10: 50,625,051 (GRCm39)		probably benign	Het
Atg10	T	C	13: 91,189,109 (GRCm39)		probably null	Het
Atm	T	C	9: 53,370,138 (GRCm39)	I2325V	possibly damaging	Het
Btnl9	C	T	11: 49,060,443 (GRCm39)	R435H	possibly damaging	Het
Ccdc180	A	G	4: 45,923,551 (GRCm39)	K1111E	probably damaging	Het
Ciao2b	T	C	8: 105,368,222 (GRCm39)	D34G	probably null	Het
Col11a2	T	A	17: 34,281,420 (GRCm39)		probably null	Het
Ctcfl	A	G	2: 172,960,236 (GRCm39)	W116R	probably damaging	Het
Ctsk	A	T	3: 95,408,255 (GRCm39)	Y37F	probably damaging	Het
Daam2	G	C	17: 49,787,813 (GRCm39)		probably null	Het
Dcdc2b	T	C	4: 129,504,031 (GRCm39)		probably null	Het
Ddx28	C	T	8: 106,737,926 (GRCm39)	R44Q	probably damaging	Het
Dhx29	T	A	13: 113,099,393 (GRCm39)	N1139K	probably benign	Het
Dnah17	A	T	11: 117,989,365 (GRCm39)	M1281K	probably benign	Het
Dnah6	T	C	6: 73,185,592 (GRCm39)	S110G	probably benign	Het
Drc7	T	C	8: 95,799,483 (GRCm39)	Y553H	probably benign	Het
Dync2h1	T	C	9: 7,005,487 (GRCm39)		probably null	Het
Ecm1	A	G	3: 95,644,369 (GRCm39)	I152T	possibly damaging	Het
Edc4	C	G	8: 106,613,407 (GRCm39)	P307R	probably damaging	Het
Eeig2	C	T	3: 108,887,497 (GRCm39)	E256K	probably benign	Het
Egr1	A	G	18: 34,996,366 (GRCm39)	T383A	possibly damaging	Het
Eml2	A	G	7: 18,924,731 (GRCm39)		probably null	Het
Eno4	A	G	19: 58,932,056 (GRCm39)		probably benign	Het
Erbb4	A	T	1: 68,369,429 (GRCm39)	I404K	probably damaging	Het
Exoc7	G	T	11: 116,186,488 (GRCm39)	T310K	probably benign	Het
Fam83e	G	T	7: 45,376,393 (GRCm39)	V369L	probably benign	Het
Fbn1	T	C	2: 125,151,697 (GRCm39)	Q2519R	probably damaging	Het
Fhod3	T	A	18: 25,223,133 (GRCm39)	C826*	probably null	Het
Foxi3	A	G	6: 70,933,612 (GRCm39)	D33G	probably benign	Het
Gcn1	T	C	5: 115,714,167 (GRCm39)		probably benign	Het
Gm14221	T	C	2: 160,410,310 (GRCm39)		noncoding transcript	Het
Golga4	T	A	9: 118,384,853 (GRCm39)	H630Q	probably benign	Het
Gpat4	T	C	8: 23,670,949 (GRCm39)	S88G	probably benign	Het
Gucy2d	A	T	7: 98,092,892 (GRCm39)	S90C	probably damaging	Het
Has2	A	C	15: 56,545,057 (GRCm39)	C182G	probably damaging	Het
Heatr5a	A	T	12: 51,935,644 (GRCm39)	S1647R	probably damaging	Het
Ifi35	T	C	11: 101,348,038 (GRCm39)	V48A	probably benign	Het
Lig1	T	A	7: 13,030,730 (GRCm39)		probably benign	Het
Magi2	A	G	5: 19,432,573 (GRCm39)	K96R	probably damaging	Het
Map7d1	G	T	4: 126,128,787 (GRCm39)	P462Q	probably damaging	Het
Mdn1	A	T	4: 32,746,439 (GRCm39)		probably null	Het
Mfsd4a	A	T	1: 131,987,013 (GRCm39)	V105E	probably damaging	Het
Mrpl53	C	T	6: 83,086,526 (GRCm39)	R77C	probably damaging	Het
Mtnr1b	C	T	9: 15,785,600 (GRCm39)	V53M	probably damaging	Het
Myo9b	T	C	8: 71,800,414 (GRCm39)	W990R	probably damaging	Het
Myt1	A	T	2: 181,405,186 (GRCm39)		probably benign	Het
Nf1	C	T	11: 79,427,704 (GRCm39)	A1766V	probably damaging	Het
Nlrp3	T	C	11: 59,439,623 (GRCm39)	V400A	possibly damaging	Het
Nup205	T	A	6: 35,173,649 (GRCm39)		probably null	Het
Nxf1	T	C	19: 8,741,515 (GRCm39)		probably null	Het
Or7a36	A	T	10: 78,820,220 (GRCm39)	M199L	probably benign	Het
P4hb	T	C	11: 120,454,162 (GRCm39)	K311E	probably benign	Het
Pafah1b1	T	C	11: 74,574,457 (GRCm39)	N243S	probably benign	Het
Parp8	G	A	13: 117,061,504 (GRCm39)	Q141*	probably null	Het
Pkd2l2	A	C	18: 34,568,380 (GRCm39)	D543A	probably benign	Het
Pld5	A	T	1: 175,803,146 (GRCm39)	L311*	probably null	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plpp5	A	T	8: 26,214,219 (GRCm39)	T144S	probably benign	Het
Ppp6r3	A	G	19: 3,528,285 (GRCm39)	L542S	probably damaging	Het
Prkar2b	A	T	12: 32,037,973 (GRCm39)		probably null	Het
Psmg1	A	T	16: 95,789,171 (GRCm39)	S129T	possibly damaging	Het
Radil	T	C	5: 142,529,582 (GRCm39)	D38G	probably benign	Het
Ric1	T	C	19: 29,578,411 (GRCm39)		probably null	Het
Rp1l1	T	A	14: 64,268,515 (GRCm39)	L1367*	probably null	Het
Rxfp1	A	T	3: 79,645,100 (GRCm39)	M1K	probably null	Het
Serpina6	G	T	12: 103,618,208 (GRCm39)	L202I	probably damaging	Het
Simc1	T	C	13: 54,676,280 (GRCm39)	I98T	probably damaging	Het
Slc17a6	A	G	7: 51,308,519 (GRCm39)	Y281C	probably damaging	Het
Slc26a11	T	A	11: 119,270,767 (GRCm39)		probably benign	Het
Slc34a1	T	A	13: 55,550,711 (GRCm39)		probably null	Het
Slfn10-ps	T	A	11: 82,926,600 (GRCm39)		noncoding transcript	Het
Sohlh2	A	G	3: 55,115,163 (GRCm39)	N383D	probably damaging	Het
Spag6	T	A	2: 18,715,302 (GRCm39)	L27H	probably damaging	Het
Sptlc3	A	G	2: 139,388,475 (GRCm39)		probably benign	Het
St3gal4	T	A	9: 34,964,469 (GRCm39)	K199*	probably null	Het
Stat5a	T	A	11: 100,772,909 (GRCm39)	D712E	probably benign	Het
Stmn2	A	T	3: 8,610,750 (GRCm39)	D78V	probably damaging	Het
Stpg1	C	T	4: 135,233,777 (GRCm39)	P20S	possibly damaging	Het
Taf2	A	T	15: 54,909,325 (GRCm39)	V640E	probably damaging	Het
Tbce	T	C	13: 14,172,747 (GRCm39)	E501G	probably benign	Het
Tecpr2	A	G	12: 110,935,374 (GRCm39)	S1398G	probably damaging	Het
Tenm4	T	A	7: 96,421,242 (GRCm39)	Y598*	probably null	Het
Ticrr	A	G	7: 79,327,088 (GRCm39)	S599G	probably damaging	Het
Tnc	A	C	4: 63,935,679 (GRCm39)	V419G	probably damaging	Het
Trappc1	C	A	11: 69,216,402 (GRCm39)	P110T	probably benign	Het
Trbv12-2	C	T	6: 41,095,993 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,576,264 (GRCm39)	N835K	possibly damaging	Het
Tubgcp5	A	G	7: 55,450,432 (GRCm39)	D181G	probably damaging	Het
Tut1	T	C	19: 8,932,891 (GRCm39)	Y75H	possibly damaging	Het
Ulk2	C	A	11: 61,678,412 (GRCm39)	C769F	probably benign	Het
Vdac1	T	C	11: 52,265,800 (GRCm39)		probably benign	Het
Vmn2r124	T	C	17: 18,284,486 (GRCm39)		probably null	Het
Vps8	T	C	16: 21,426,977 (GRCm39)		probably benign	Het
Wdr35	T	C	12: 9,045,625 (GRCm39)		probably benign	Het
Zdhhc7	T	A	8: 120,813,386 (GRCm39)	E141V	probably null	Het
Zfp12	C	A	5: 143,230,978 (GRCm39)	S435Y	probably damaging	Het
Zfp974	A	T	7: 27,626,819 (GRCm39)		probably benign	Het
Zfyve9	T	A	4: 108,538,166 (GRCm39)	K1033N	probably damaging	Het
Zswim8	T	A	14: 20,772,013 (GRCm39)	S1572T	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGCACTGGGAGGTTCATCATAAGG -3'
(R):5'- ACTGCTGCTGTTGCAGAAAGAGAG -3'

Sequencing Primer
(F):5'- tcaagttatgccgacgcc -3'
(R):5'- AGTTGACCACACAAGAGCTG -3'

Posted On

2013-05-09