Mutagenetix > Incidental Mutation

Incidental Mutation 'R0554:Fancc'

45396

Institutional Source

Beutler Lab

Gene Symbol

Fancc

Ensembl Gene

ENSMUSG00000021461

Gene Name

Fanconi anemia, complementation group C

Synonyms

Facc

MMRRC Submission

038746-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.901) question?

Stock #

R0554 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63452519-63645126 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63465283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 475 (S475G)

Ref Sequence

ENSEMBL: ENSMUSP00000123817 (fasta)

Gene Model

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

AlphaFold

P50652

Predicted Effect

probably benign
Transcript: ENSMUST00000073029
AA Change: S475G

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000072788
Gene: ENSMUSG00000021461
AA Change: S475G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099444
AA Change: S378G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097043
Gene: ENSMUSG00000021461
AA Change: S378G

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: ENSMUST00000160166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160336

Predicted Effect

probably benign
Transcript: ENSMUST00000163091
AA Change: S475G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124406
Gene: ENSMUSG00000021461
AA Change: S475G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161977
AA Change: S475G

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123817
Gene: ENSMUSG00000021461
AA Change: S475G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220684

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,181 (GRCm39)	Y255*	probably null	Het
1810024B03Rik	A	G	2: 127,029,196 (GRCm39)	M1T	probably null	Het
4930503L19Rik	T	C	18: 70,600,451 (GRCm39)	D386G	probably damaging	Het
Ace2	T	A	X: 162,958,947 (GRCm39)	N601K	probably benign	Het
Adam4	A	C	12: 81,468,198 (GRCm39)	I141R	probably damaging	Het
Adcy10	G	A	1: 165,340,699 (GRCm39)	G235S	probably benign	Het
Adcy5	G	A	16: 35,114,387 (GRCm39)	V997I	probably benign	Het
Aff2	T	G	X: 68,907,680 (GRCm39)	W1221G	possibly damaging	Het
Ankrd44	T	C	1: 54,802,917 (GRCm39)	N194D	probably benign	Het
Apba2	T	G	7: 64,395,528 (GRCm39)	L668R	probably damaging	Het
Asph	T	C	4: 9,604,581 (GRCm39)	D152G	probably damaging	Het
Bcl3	C	G	7: 19,553,991 (GRCm39)	V126L	probably benign	Het
Cd163	A	G	6: 124,289,619 (GRCm39)	T446A	probably benign	Het
Cd209g	C	T	8: 4,184,995 (GRCm39)		probably benign	Het
Cdadc1	A	T	14: 59,823,901 (GRCm39)	V197E	probably damaging	Het
CN725425	T	C	15: 91,144,966 (GRCm39)	C610R	possibly damaging	Het
Col6a2	A	G	10: 76,446,995 (GRCm39)		probably null	Het
Coro7	A	G	16: 4,450,121 (GRCm39)	L576P	possibly damaging	Het
Dgkb	T	A	12: 38,266,030 (GRCm39)	V503E	probably benign	Het
Dhx57	A	T	17: 80,567,665 (GRCm39)	L806*	probably null	Het
Dlec1	T	C	9: 118,944,070 (GRCm39)	V373A	probably benign	Het
Dnah11	G	T	12: 117,894,913 (GRCm39)	R3645S	probably benign	Het
Dnhd1	T	C	7: 105,343,602 (GRCm39)	S1649P	probably benign	Het
Draxin	T	G	4: 148,192,420 (GRCm39)	K297N	probably damaging	Het
Epha7	T	C	4: 28,951,401 (GRCm39)	S841P	probably damaging	Het
Esp8	T	G	17: 40,841,166 (GRCm39)	D142E	unknown	Het
F5	T	G	1: 164,007,018 (GRCm39)	V274G	probably damaging	Het
Fmo3	T	C	1: 162,781,901 (GRCm39)	N484S	probably benign	Het
Focad	T	C	4: 88,267,126 (GRCm39)	Y1046H	unknown	Het
Furin	C	T	7: 80,041,032 (GRCm39)	G602D	probably damaging	Het
Fut8	A	T	12: 77,411,744 (GRCm39)	I69L	probably benign	Het
Gnai3	A	G	3: 108,030,928 (GRCm39)	I78T	probably benign	Het
Gpr182	T	C	10: 127,586,940 (GRCm39)	I4V	probably benign	Het
Gpr63	T	C	4: 25,007,447 (GRCm39)	M57T	probably benign	Het
Grm1	T	A	10: 10,595,667 (GRCm39)	T654S	probably benign	Het
Gtf2h4	T	C	17: 35,979,531 (GRCm39)	T371A	probably benign	Het
Helq	T	C	5: 100,938,066 (GRCm39)	N460S	probably benign	Het
Hmcn1	T	C	1: 150,594,868 (GRCm39)	N1867S	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Iigp1c	G	A	18: 60,378,489 (GRCm39)	R8H	probably benign	Het
Inpp5j	A	G	11: 3,449,644 (GRCm39)	Y713H	probably damaging	Het
Ints6	A	T	14: 62,942,200 (GRCm39)	V511D	possibly damaging	Het
Irag2	G	A	6: 145,111,013 (GRCm39)	A237T	probably benign	Het
Itga4	A	G	2: 79,109,461 (GRCm39)	Y220C	probably damaging	Het
Itgav	T	G	2: 83,624,614 (GRCm39)	S735A	possibly damaging	Het
Kctd16	A	G	18: 40,391,492 (GRCm39)	I27V	probably benign	Het
Klhl6	T	C	16: 19,772,343 (GRCm39)	E334G	probably damaging	Het
Ltbp1	T	A	17: 75,532,274 (GRCm39)	L116H	probably damaging	Het
Magohb	T	A	6: 131,262,660 (GRCm39)	H98L	probably benign	Het
Mgat2	A	G	12: 69,232,166 (GRCm39)	T247A	probably benign	Het
Mtif2	G	A	11: 29,483,398 (GRCm39)		probably null	Het
Myrfl	T	C	10: 116,664,878 (GRCm39)	E384G	probably damaging	Het
Nfam1	G	T	15: 82,917,410 (GRCm39)	R8S	probably benign	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or14c46	A	T	7: 85,918,865 (GRCm39)	I44N	probably damaging	Het
Or2w3b	T	C	11: 58,623,865 (GRCm39)	N42S	probably damaging	Het
Or5m10b	T	C	2: 85,699,863 (GRCm39)	F309S	probably benign	Het
Or6c207	T	C	10: 129,104,368 (GRCm39)	T275A	probably benign	Het
Orc4	C	T	2: 48,795,433 (GRCm39)	S431N	probably benign	Het
Pax2	T	C	19: 44,750,300 (GRCm39)	V129A	probably damaging	Het
Pcdhb15	A	G	18: 37,607,572 (GRCm39)	D268G	probably damaging	Het
Pdcd1	G	A	1: 93,967,107 (GRCm39)	R264C	probably damaging	Het
Pi15	T	A	1: 17,691,872 (GRCm39)	M187K	probably benign	Het
Plag1	C	T	4: 3,904,546 (GRCm39)	C215Y	probably damaging	Het
Plagl1	A	G	10: 13,002,926 (GRCm39)	T65A	probably benign	Het
Pramel51	T	C	12: 88,144,328 (GRCm39)	T162A	probably benign	Het
Prss48	T	A	3: 85,908,228 (GRCm39)	Q18L	probably benign	Het
Prune2	T	A	19: 17,102,582 (GRCm39)	C2580*	probably null	Het
Rab40b	T	A	11: 121,250,432 (GRCm39)	Q74L	probably damaging	Het
Raf1	A	G	6: 115,600,491 (GRCm39)	I376T	probably benign	Het
Rbm46	A	T	3: 82,772,575 (GRCm39)	F186I	probably damaging	Het
Reps1	C	T	10: 17,998,867 (GRCm39)	T720M	possibly damaging	Het
Rgs22	A	G	15: 36,054,855 (GRCm39)	M649T	probably benign	Het
Rhot1	C	T	11: 80,134,264 (GRCm39)	R47*	probably null	Het
Rhox2f	A	G	X: 36,753,124 (GRCm39)	Y8C	possibly damaging	Het
Rnf17	A	G	14: 56,760,007 (GRCm39)	Y1604C	probably damaging	Het
Rnf40	T	C	7: 127,201,756 (GRCm39)	C943R	probably damaging	Het
Ropn1l	A	T	15: 31,451,295 (GRCm39)	M63K	probably benign	Het
Sbf2	C	A	7: 110,027,494 (GRCm39)	V501F	probably damaging	Het
Sh3bp1	T	A	15: 78,791,467 (GRCm39)	M354K	probably damaging	Het
Sipa1l3	T	C	7: 29,087,455 (GRCm39)	H590R	possibly damaging	Het
Slco6d1	T	A	1: 98,394,422 (GRCm39)	C369S	probably benign	Het
Sulf1	T	C	1: 12,875,418 (GRCm39)	Y143H	probably damaging	Het
Tiam2	A	T	17: 3,488,956 (GRCm39)	R755*	probably null	Het
Trim12c	C	A	7: 103,994,169 (GRCm39)	L228F	probably damaging	Het
Ttc23l	G	T	15: 10,530,743 (GRCm39)	Q290K	probably benign	Het
Uba3	T	C	6: 97,168,221 (GRCm39)		probably null	Het
Ugt1a10	A	G	1: 87,983,817 (GRCm39)	E205G	probably damaging	Het
Ugt3a1	T	A	15: 9,351,206 (GRCm39)	S72T	probably benign	Het
Upk3bl	C	T	5: 136,088,648 (GRCm39)	T113I	probably damaging	Het
Uspl1	T	A	5: 149,124,644 (GRCm39)	D20E	probably damaging	Het
Vmn2r19	G	A	6: 123,313,102 (GRCm39)	G724E	probably damaging	Het
Vmn2r63	T	A	7: 42,583,129 (GRCm39)	K29*	probably null	Het
Vwf	C	T	6: 125,619,744 (GRCm39)	A1474V	probably benign	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	Het
Zfp462	A	G	4: 55,013,689 (GRCm39)	H737R	probably damaging	Het
Zfp536	T	C	7: 37,180,244 (GRCm39)	D787G	probably damaging	Het
Zfp692	A	G	11: 58,205,053 (GRCm39)	H434R	probably damaging	Het
Zp1	C	A	19: 10,897,926 (GRCm39)	C5F	probably benign	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
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'- ACAAGGTGACATCCTTTCTGCAAGC -3'
(R):5'- AGCGTGAAAGCATCAAGTCAGTCC -3'

Sequencing Primer
(F):5'- GCCTGTGATCTCAAAAGTCG -3'
(R):5'- GCATCAAGTCAGTCCTAGAGTCTC -3'

Posted On

2013-06-11