Mutagenetix > Incidental Mutations

Incidental Mutation 'R4651:Fanci'

351289

Institutional Source

Beutler Lab

Gene Symbol

Fanci

Ensembl Gene

ENSMUSG00000039187

Gene Name

Fanconi anemia, complementation group I

Synonyms

MMRRC Submission

041911-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.709) question?

Stock #

R4651 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79391929-79450264 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79435256 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 838 (M838K)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036865
AA Change: M838K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044931
Gene: ENSMUSG00000039187
AA Change: M838K

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

possibly damaging
Transcript: ENSMUST00000117227
AA Change: M838K

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112383
Gene: ENSMUSG00000039187
AA Change: M838K

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 benign
Transcript: ENSMUST00000137667
AA Change: M810K

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117992
Gene: ENSMUSG00000039187
AA Change: M810K

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

Meta Mutation Damage Score

0.3298

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (98/101)

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 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
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,606,215	E168K	unknown	Het
Ahnak2	T	G	12: 112,774,837	S128R	possibly damaging	Het
Ankrd26	T	C	6: 118,515,826	D1319G	probably benign	Het
Ankrd35	T	C	3: 96,684,027	V543A	probably benign	Het
Ano10	A	T	9: 122,261,115	Y377*	probably null	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atp10b	G	A	11: 43,194,645	G284S	probably damaging	Het
Atp5c1	A	G	2: 10,063,476	F180S	probably damaging	Het
Btnl4	A	G	17: 34,472,628	S296P	probably benign	Het
Cast	A	G	13: 74,746,014	S171P	probably benign	Het
Catsperb	G	A	12: 101,541,512	A513T	probably benign	Het
Ccnf	C	A	17: 24,231,786	R406L	probably damaging	Het
Ceacam12	A	G	7: 18,067,434	T113A	probably damaging	Het
Cipc	T	C	12: 86,962,090	V241A	probably benign	Het
Col12a1	A	T	9: 79,612,946	D2815E	probably damaging	Het
Cpox	G	T	16: 58,670,687	R87L	possibly damaging	Het
Cttnbp2	A	G	6: 18,434,038	I607T	possibly damaging	Het
Cux1	A	T	5: 136,567,229	N4K	probably damaging	Het
Cyp3a25	T	C	5: 145,994,891	T136A	probably benign	Het
Dhx58	T	A	11: 100,701,359	N288Y	probably damaging	Het
Dnah10	T	C	5: 124,729,143	Y127H	probably benign	Het
Dnd1	G	A	18: 36,765,061		probably benign	Het
Ehmt2	C	A	17: 34,913,814	N1171K	probably damaging	Het
Flot1	T	C	17: 35,832,544		probably benign	Het
Gad2	A	T	2: 22,668,362	D364V	probably damaging	Het
Gm10375	C	A	14: 43,606,869		probably null	Het
Gm9996	T	A	10: 29,143,758		probably benign	Het
Gnat3	T	A	5: 18,015,570	L247H	probably damaging	Het
Ip6k3	C	T	17: 27,145,291	C261Y	probably damaging	Het
Irgc1	C	A	7: 24,432,813	R193L	probably damaging	Het
Kalrn	G	T	16: 34,176,391	P1477Q	probably damaging	Het
Kyat1	G	T	2: 30,194,064	H15N	probably benign	Het
Lamc1	T	G	1: 153,228,777	S59R	probably damaging	Het
Llgl1	A	G	11: 60,708,651	D486G	possibly damaging	Het
Lrrc9	T	C	12: 72,477,386	W790R	probably damaging	Het
Lsm2	T	A	17: 34,985,595		probably benign	Het
Med8	A	T	4: 118,410,892	E5V	probably damaging	Het
Mefv	A	G	16: 3,717,818	L82P	probably damaging	Het
Mettl3	T	A	14: 52,295,092	I545F	probably damaging	Het
Naa20	CTCTAGA	C	2: 145,911,832		probably benign	Het
Ncapg2	T	A	12: 116,425,787	N342K	probably damaging	Het
Ndufaf6	T	A	4: 11,062,070	Y187F	probably damaging	Het
Nomo1	T	A	7: 46,068,442	I799N	probably damaging	Het
Obscn	G	A	11: 59,038,877	R5824C	probably damaging	Het
Olfr1310	G	T	2: 112,008,250	S312Y	probably damaging	Het
Olfr430	A	G	1: 174,069,828	I177V	possibly damaging	Het
Olfr807	T	C	10: 129,755,418	I11V	probably benign	Het
Olfr849	T	A	9: 19,441,295	C127*	probably null	Het
Pgm3	T	A	9: 86,558,470	R389S	probably benign	Het
Pkd2l2	A	T	18: 34,409,836	R20*	probably null	Het
Pkhd1	T	A	1: 20,381,523	I2183F	probably damaging	Het
Ppp4r3a	T	A	12: 101,082,911		probably benign	Het
Prpf38b	G	A	3: 108,904,092		probably benign	Het
Prpf4b	A	T	13: 34,899,971	M908L	probably benign	Het
Prps2	T	C	X: 167,352,292	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,723,274	H40Q	probably damaging	Het
Ptprk	T	C	10: 28,263,690	I137T	probably damaging	Het
Rrnad1	T	C	3: 87,927,672	H107R	probably benign	Het
Sdr42e1	T	C	8: 117,663,621	T94A	probably benign	Het
Setd2	A	G	9: 110,594,132	D2085G	possibly damaging	Het
Sgce	T	C	6: 4,689,560		probably benign	Het
Shisa3	A	G	5: 67,608,649	D81G	probably damaging	Het
Sipa1l1	T	A	12: 82,422,471	L1248*	probably null	Het
Skint7	T	G	4: 111,982,112	M201R	probably damaging	Het
Slc5a3	T	A	16: 92,077,202	V49E	probably benign	Het
Slc9c1	A	T	16: 45,547,393	*163L	probably null	Het
Smyd3	A	G	1: 179,043,741	Y358H	probably benign	Het
Srp68	A	T	11: 116,274,014	S31R	probably benign	Het
Stag1	T	A	9: 100,796,716	M230K	probably damaging	Het
Strc	A	T	2: 121,374,348	D985E	possibly damaging	Het
Syne2	A	G	12: 75,989,239	T3767A	probably damaging	Het
Sytl2	C	A	7: 90,375,425	P207Q	probably damaging	Het
Tbc1d2b	A	G	9: 90,207,887	F863S	probably damaging	Het
Tek	T	C	4: 94,780,884	S41P	probably damaging	Het
Top1	T	C	2: 160,712,717	Y463H	probably damaging	Het
Trim24	T	G	6: 37,957,839		probably null	Het
Trim38	A	T	13: 23,782,969	D133V	probably damaging	Het
Ttn	A	G	2: 76,746,635	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,870,869		probably benign	Het
Tyro3	G	C	2: 119,816,868	G826A	probably benign	Het
Ube2b	A	G	11: 51,995,372		probably null	Het
Ubxn4	T	A	1: 128,274,850	W410R	probably benign	Het
Unc45a	T	C	7: 80,333,029	K383E	possibly damaging	Het
Usp7	A	C	16: 8,698,414		probably benign	Het
Vmn1r193	C	T	13: 22,219,525	G99D	probably damaging	Het
Vrk2	T	C	11: 26,489,803	D256G	probably damaging	Het
Wdr81	A	G	11: 75,451,240	V1067A	probably damaging	Het
Wiz	C	T	17: 32,357,681	R624Q	probably damaging	Het
Zcwpw2	A	G	9: 118,014,051		noncoding transcript	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
R4993:Fanci	UTSW	7	79435378	makesense	probably null
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'- GAGATGATCTTCCCTCCCTGTG -3'
(R):5'- CCCGAGCTTCTCAGAGAATTCAC -3'

Sequencing Primer
(F):5'- CGAGTATGTTAGGCAGGCACTC -3'
(R):5'- GAGCTTCTCAGAGAATTCACAGCAC -3'

Posted On

2015-10-08