Mutagenetix > Incidental Mutations

Incidental Mutation 'R4993:Fanci'

385012

Institutional Source

Beutler Lab

Gene Symbol

Fanci

Ensembl Gene

ENSMUSG00000039187

Gene Name

Fanconi anemia, complementation group I

Synonyms

MMRRC Submission

042587-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.709) question?

Stock #

R4993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79391929-79450264 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 79435378 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 851 (*851Q)

Ref Sequence

ENSEMBL: ENSMUSP00000117992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036865] [ENSMUST00000132091] [ENSMUST00000137667]

Predicted Effect

probably null
Transcript: ENSMUST00000036865

SMART Domains

Protein: ENSMUSP00000044931
Gene: ENSMUSG00000039187

Domain	Start	End	E-Value	Type
Pfam:FANCI_S1-cap	1	53	7.5e-27	PFAM
Pfam:FANCI_S1	62	280	3.5e-78	PFAM
Pfam:FANCI_HD1	284	370	1.6e-37	PFAM
Pfam:FANCI_S2	378	540	2.4e-63	PFAM
Pfam:FANCI_HD2	554	785	4.8e-87	PFAM
Pfam:FANCI_S3	803	1028	1.7e-83	PFAM
Pfam:FANCI_S4	1041	1295	1.3e-95	PFAM
low complexity region	1299	1307	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000117227

SMART Domains

Protein: ENSMUSP00000112383
Gene: ENSMUSG00000039187

Domain	Start	End	E-Value	Type
Pfam:FANCI_S1-cap	1	53	4.5e-29	PFAM
Pfam:FANCI_S1	60	281	2.9e-80	PFAM
Pfam:FANCI_HD1	284	371	5.2e-37	PFAM
Pfam:FANCI_S2	377	541	2.8e-56	PFAM
Pfam:FANCI_HD2	551	786	2.8e-99	PFAM
Pfam:FANCI_S3	803	1029	1.3e-90	PFAM
Pfam:FANCI_S4	1039	1292	1.4e-106	PFAM
low complexity region	1294	1302	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132091

SMART Domains

Protein: ENSMUSP00000122113
Gene: ENSMUSG00000039187

Domain	Start	End	E-Value	Type
Pfam:FANCI_S1-cap	1	53	1.6e-29	PFAM
Pfam:FANCI_S1	60	281	3.2e-81	PFAM
Pfam:FANCI_HD1	284	371	2.9e-37	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000137667
AA Change: *851Q

SMART Domains

Protein: ENSMUSP00000117992
Gene: ENSMUSG00000039187
AA Change: *851Q

Domain	Start	End	E-Value	Type
Pfam:FANCI_S1-cap	1	25	7.2e-11	PFAM
Pfam:FANCI_S1	32	253	3.4e-80	PFAM
Pfam:FANCI_HD1	256	343	7.3e-37	PFAM
Pfam:FANCI_S2	349	513	8.5e-56	PFAM
Pfam:FANCI_HD2	523	758	9.3e-99	PFAM
Pfam:FANCI_S3	775	850	1.3e-30	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

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 I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
9130008F23Rik	G	T	17: 40,880,161	Q126K	probably benign	Het
Abca15	C	A	7: 120,401,718	N1492K	probably damaging	Het
Afap1l2	C	T	19: 56,918,040	D402N	probably damaging	Het
Akap11	A	G	14: 78,512,968	F660L	probably damaging	Het
Bcl3	T	C	7: 19,820,177	T89A	probably benign	Het
Bub1b	T	C	2: 118,636,770	I858T	possibly damaging	Het
Cdk19	A	G	10: 40,476,218	D288G	possibly damaging	Het
Cyp2d34	T	A	15: 82,618,329	D202V	probably damaging	Het
Dip2c	T	G	13: 9,575,223	Y584*	probably null	Het
Dpf3	A	T	12: 83,331,861		probably null	Het
Drp2	G	A	X: 134,441,316	R567H	probably damaging	Homo
Emid1	G	T	11: 5,131,512	Q212K	probably benign	Het
Esm1	C	T	13: 113,213,399	Q118*	probably null	Het
Fahd2a	T	G	2: 127,436,364	I308L	probably benign	Het
Fam208a	T	A	14: 27,429,114	W16R	possibly damaging	Het
Fastkd1	C	A	2: 69,702,740	V428F	probably damaging	Het
Fat2	A	T	11: 55,283,092	I2265N	probably damaging	Het
Gale	C	A	4: 135,966,860	H191Q	probably damaging	Het
Ghsr	T	A	3: 27,372,254	V153E	possibly damaging	Het
Gm10696	C	T	3: 94,176,316	G63R	probably damaging	Het
Gpc6	A	G	14: 117,624,539	N289S	possibly damaging	Het
Hoxb6	A	T	11: 96,300,711	Y153F	probably damaging	Het
Ints3	T	C	3: 90,415,507	T139A	probably benign	Het
Irf2bp2	A	G	8: 126,592,671	S256P	probably benign	Het
Klf4	G	T	4: 55,530,640	P148Q	probably damaging	Het
Loxl1	T	G	9: 58,312,537	H117P	probably damaging	Het
Lpl	A	G	8: 68,895,793	K225E	probably benign	Het
Lrba	T	A	3: 86,360,037	V1678D	probably damaging	Het
Med1	A	T	11: 98,163,904	F398Y	probably damaging	Het
Mfap2	T	C	4: 141,015,578	*186Q	probably null	Het
Mfsd3	T	C	15: 76,701,982	L105P	probably damaging	Het
Mlxip	T	G	5: 123,395,294	I122S	probably damaging	Het
Mmrn2	A	T	14: 34,396,398	Y107F	probably damaging	Het
Mtg1	G	T	7: 140,140,283	D88Y	probably null	Het
Mutyh	T	A	4: 116,817,935	S426R	probably benign	Het
Myo16	C	T	8: 10,476,094	T878I	probably damaging	Het
Myo9a	T	A	9: 59,861,472	Y912*	probably null	Het
Ncor1	A	C	11: 62,343,341	I669R	probably damaging	Het
Ndufs1	T	C	1: 63,163,776	I210V	probably benign	Het
Nek9	A	G	12: 85,310,420	C657R	probably damaging	Het
Noct	C	T	3: 51,250,021	T260I	probably damaging	Het
Nr1h4	A	T	10: 89,498,180	M102K	probably benign	Het
Obscn	G	A	11: 59,124,761	R1054C	possibly damaging	Het
Olfr1124	T	A	2: 87,435,152	F222I	probably benign	Het
Olfr352	C	A	2: 36,869,988	Q141K	probably benign	Het
Olfr47	A	G	6: 43,236,456	M283V	possibly damaging	Het
Olfr501-ps1	G	A	7: 108,508,243	M62I	probably damaging	Het
Olfr615	T	A	7: 103,561,317	I280N	possibly damaging	Het
Olfr619	A	T	7: 103,603,656	M1L	probably benign	Het
Otol1	C	A	3: 70,018,878	Q129K	probably benign	Het
Otx1	A	T	11: 21,998,532		probably null	Het
Pcdhac2	C	A	18: 37,146,251	N761K	probably damaging	Het
Pde1c	A	T	6: 56,150,624	M452K	probably damaging	Het
Phkg2	T	C	7: 127,573,941	Y24H	probably damaging	Het
Pigr	G	A	1: 130,841,817	D122N	probably benign	Het
Prg4	C	T	1: 150,460,681	C97Y	probably damaging	Het
Ptdss1	T	C	13: 66,945,288	V64A	probably benign	Het
Ralgapa2	T	C	2: 146,447,311	K324E	probably damaging	Het
Rfx5	G	A	3: 94,955,815	V73I	probably benign	Het
Riiad1	T	C	3: 94,472,863	T42A	probably benign	Het
Rims2	T	C	15: 39,454,445	V640A	possibly damaging	Het
Rnpep	G	T	1: 135,263,032	S592Y	possibly damaging	Het
Scap	T	C	9: 110,378,390	L431P	probably damaging	Het
Siglec1	T	A	2: 131,073,361	I1437F	possibly damaging	Het
Skint1	T	C	4: 112,028,333		probably null	Het
Slc44a1	A	G	4: 53,543,644	E396G	probably damaging	Het
Slc4a2	T	C	5: 24,434,869	F521S	probably damaging	Het
Smarcc1	T	A	9: 110,175,061	S394R	probably damaging	Het
Socs1	A	G	16: 10,784,685	S63P	probably benign	Het
Sun1	T	G	5: 139,225,333	S20A	possibly damaging	Het
Tac4	A	T	11: 95,265,242	K50*	probably null	Het
Tcaf2	A	G	6: 42,642,640	I151T	probably damaging	Het
Tcf4	T	C	18: 69,681,769	V587A	probably damaging	Het
Ttc37	T	A	13: 76,182,936	M1495K	probably damaging	Het
Ttn	T	A	2: 76,740,909	K24801*	probably null	Het
Tuba3b	G	T	6: 145,621,273	M413I	possibly damaging	Het
Ufl1	C	T	4: 25,267,832	A280T	possibly damaging	Het
Ugt2b5	T	A	5: 87,139,673	I212L	probably benign	Het
Umodl1	A	G	17: 30,986,485	T685A	probably benign	Het
Uqcrc1	T	A	9: 108,944,810	V183D	probably damaging	Het
Ush2a	A	G	1: 188,910,720	N4093S	probably benign	Het
Vmn1r167	C	T	7: 23,505,228	S121N	probably damaging	Het
Vmn1r47	A	G	6: 90,022,758	S291G	possibly damaging	Het
Vmn2r108	A	G	17: 20,481,187	V17A	probably benign	Het
Vmn2r58	T	A	7: 41,837,752	H573L	probably benign	Het
Xirp1	C	T	9: 120,018,792	V342I	probably damaging	Het
Zfp462	A	G	4: 55,051,204	M2226V	possibly damaging	Het
Zfp467	G	A	6: 48,439,029	H230Y	probably damaging	Het
Zfp595	T	A	13: 67,316,401	K599N	probably damaging	Het
Zfp819	C	A	7: 43,617,296	T401K	probably benign	Het

Other mutations in Fanci

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00717:Fanci	APN	7	79412700	missense	probably damaging	1.00
IGL00718:Fanci	APN	7	79444174	missense	possibly damaging	0.92
IGL00764:Fanci	APN	7	79395912	start codon destroyed	probably null	0.05
IGL01669:Fanci	APN	7	79449177	missense	probably benign	0.01
IGL02338:Fanci	APN	7	79433531	nonsense	probably null
IGL02428:Fanci	APN	7	79444516	intron	probably benign
IGL03029:Fanci	APN	7	79443999	missense	probably benign	0.00
BB005:Fanci	UTSW	7	79444711	missense	probably benign
BB015:Fanci	UTSW	7	79444711	missense	probably benign
P0023:Fanci	UTSW	7	79402300	missense	probably benign	0.00
P0047:Fanci	UTSW	7	79444044	missense	probably damaging	1.00
R0310:Fanci	UTSW	7	79407417	splice site	probably benign
R0388:Fanci	UTSW	7	79439630	missense	probably benign
R0506:Fanci	UTSW	7	79432178	missense	probably benign	0.29
R0570:Fanci	UTSW	7	79443963	missense	probably damaging	1.00
R0631:Fanci	UTSW	7	79406205	missense	probably damaging	1.00
R0746:Fanci	UTSW	7	79439681	missense	probably damaging	0.99
R0981:Fanci	UTSW	7	79405166	missense	probably benign	0.01
R1559:Fanci	UTSW	7	79433193	missense	probably damaging	1.00
R1656:Fanci	UTSW	7	79405188	splice site	probably benign
R1748:Fanci	UTSW	7	79430488	missense	probably damaging	1.00
R1815:Fanci	UTSW	7	79438308	missense	probably damaging	1.00
R2164:Fanci	UTSW	7	79395995	missense	probably benign	0.22
R3508:Fanci	UTSW	7	79433472	missense	probably benign	0.01
R3908:Fanci	UTSW	7	79433509	missense	possibly damaging	0.91
R4036:Fanci	UTSW	7	79444822	missense	probably damaging	1.00
R4066:Fanci	UTSW	7	79412757	critical splice donor site	probably null
R4633:Fanci	UTSW	7	79427242	missense	probably damaging	1.00
R4651:Fanci	UTSW	7	79435256	missense	possibly damaging	0.74
R5341:Fanci	UTSW	7	79406178	missense	probably damaging	1.00
R5806:Fanci	UTSW	7	79448848	missense	probably damaging	0.97
R5898:Fanci	UTSW	7	79433321	missense	probably benign
R5919:Fanci	UTSW	7	79444738	missense	probably damaging	1.00
R5960:Fanci	UTSW	7	79443762	missense	probably damaging	1.00
R6367:Fanci	UTSW	7	79426195	missense	probably damaging	0.99
R6436:Fanci	UTSW	7	79440698	missense	probably benign	0.03
R6468:Fanci	UTSW	7	79417939	missense	probably benign	0.10
R6508:Fanci	UTSW	7	79443768	missense	probably damaging	0.99
R6886:Fanci	UTSW	7	79420342	missense	possibly damaging	0.81
R7554:Fanci	UTSW	7	79412752	missense	probably damaging	0.99
R7588:Fanci	UTSW	7	79434269	missense	possibly damaging	0.81
R7644:Fanci	UTSW	7	79444471	nonsense	probably null
R7697:Fanci	UTSW	7	79406292	critical splice donor site	probably null
R7732:Fanci	UTSW	7	79412652	missense	possibly damaging	0.65
R7928:Fanci	UTSW	7	79444711	missense	probably benign
R8170:Fanci	UTSW	7	79433557	splice site	probably null
R8355:Fanci	UTSW	7	79435281	missense	probably damaging	1.00
R8425:Fanci	UTSW	7	79433541	missense	probably benign	0.07
R8429:Fanci	UTSW	7	79438385	missense	possibly damaging	0.65
R8455:Fanci	UTSW	7	79435281	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGTCATGAAGAGAGTCTGTCTG -3'
(R):5'- AGGTGCATGTACACTTAGGC -3'

Sequencing Primer
(F):5'- CATGAAGAGAGTCTGTCTGTCCTGC -3'
(R):5'- GCATGTACACTTAGGCTTATTATGC -3'

Posted On

2016-05-10