Mutagenetix > Incidental Mutations

Incidental Mutation 'R8425:Fanci'

653411

Institutional Source

Beutler Lab

Gene Symbol

Fanci

Ensembl Gene

ENSMUSG00000039187

Gene Name

Fanconi anemia, complementation group I

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.709) question?

Stock #

R8425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79391929-79450264 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79433541 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 731 (I731L)

Ref Sequence

ENSEMBL: ENSMUSP00000117992 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036865
AA Change: I759L

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000044931
Gene: ENSMUSG00000039187
AA Change: I759L

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 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: I731L

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117992
Gene: ENSMUSG00000039187
AA Change: I731L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,347,786	E92G	possibly damaging	Het
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
Aasdh	A	T	5: 76,886,277	Y476N	possibly damaging	Het
Abca13	G	T	11: 9,314,623	V3002F	possibly damaging	Het
Adam23	C	T	1: 63,585,377	T788I	probably damaging	Het
Adgrb2	A	G	4: 130,005,057	T282A	possibly damaging	Het
Adgrg1	T	C	8: 95,008,407	Y402H	probably damaging	Het
Agpat2	A	T	2: 26,593,654	L257Q	probably benign	Het
Agpat3	A	T	10: 78,282,377	V255E	possibly damaging	Het
Akap6	A	G	12: 52,886,621	I299V	probably benign	Het
Anapc1	A	T	2: 128,669,868	F468L	probably damaging	Het
Apob	T	A	12: 7,988,842	N431K	possibly damaging	Het
Asprv1	T	A	6: 86,628,869	D232E	probably benign	Het
AW209491	A	G	13: 14,637,336	Y258C	probably damaging	Het
Bach2	C	T	4: 32,562,316	P261L	probably benign	Het
Cap2	T	A	13: 46,609,732	I146K	probably damaging	Het
Catsperb	A	T	12: 101,602,769	Q900L	probably benign	Het
Ccdc187	A	T	2: 26,281,536	V310D	probably damaging	Het
Cenpe	G	T	3: 135,242,627	G1275*	probably null	Het
Chd8	C	T	14: 52,210,555	G1663D	probably damaging	Het
Col6a5	T	A	9: 105,945,957	Y67F	unknown	Het
Cuzd1	G	T	7: 131,317,991	T132K	possibly damaging	Het
Ddr2	T	A	1: 170,036,016		probably benign	Het
Ddx42	T	C	11: 106,247,724	I783T	probably benign	Het
Dennd4a	T	A	9: 64,838,974	D47E	probably damaging	Het
Dirc2	A	T	16: 35,735,597	N164K	probably benign	Het
Dvl2	T	G	11: 70,007,847	W379G	probably damaging	Het
Ehbp1	A	G	11: 22,013,495	L1160P	probably damaging	Het
Eml6	A	G	11: 29,755,008	V1512A	probably benign	Het
Ephb6	T	C	6: 41,618,646	S780P	probably damaging	Het
Exo5	G	A	4: 120,922,363	L102F	probably benign	Het
Fam220a	A	T	5: 143,562,839	K2M	possibly damaging	Het
Gbp8	A	G	5: 105,017,774	S338P	probably damaging	Het
H2-M11	T	C	17: 36,548,757	I214T	probably benign	Het
Hhatl	C	A	9: 121,789,102	A196S	probably benign	Het
Hspg2	C	A	4: 137,550,867	C2988*	probably null	Het
Ifi213	A	G	1: 173,589,860	S329P	probably benign	Het
Lingo3	G	T	10: 80,834,982	F371L	probably benign	Het
Maml2	C	T	9: 13,620,117	T209I		Het
Ndufaf3	T	C	9: 108,566,983		probably benign	Het
Nfatc2	C	T	2: 168,536,296	G483E	probably damaging	Het
Npy6r	A	C	18: 44,276,003	T164P	probably benign	Het
Olfr117	T	A	17: 37,660,084	N83I	probably damaging	Het
Olfr1221	T	A	2: 89,112,393	N40Y	probably damaging	Het
Olfr132	T	C	17: 38,131,036	D52G	possibly damaging	Het
Olfr1502	T	C	19: 13,862,485	S231P	probably benign	Het
Olfr173	A	G	16: 58,797,603	M81T	probably benign	Het
Olfr659	A	G	7: 104,671,295	N198D	probably damaging	Het
Omg	T	C	11: 79,502,000	E344G	possibly damaging	Het
P2rx7	A	G	5: 122,670,458	E301G	probably damaging	Het
Pkhd1l1	T	C	15: 44,574,515	S3569P	probably benign	Het
Pkn3	G	A	2: 30,086,501		probably null	Het
Proc	C	T	18: 32,123,358	V419M	probably damaging	Het
Prss37	C	T	6: 40,516,118	W138*	probably null	Het
Prss52	T	A	14: 64,112,560	L212*	probably null	Het
Rnps1	A	G	17: 24,418,169	K8E	unknown	Het
Rpf2	A	T	10: 40,225,433	L202*	probably null	Het
Saraf	C	T	8: 34,165,448	P227L	probably benign	Het
Serpinb5	T	A	1: 106,881,785	M307K	possibly damaging	Het
Slc46a1	T	C	11: 78,468,645	S368P	possibly damaging	Het
Slfn8	T	A	11: 83,004,615	Q455L	possibly damaging	Het
Sv2b	A	G	7: 75,117,599	M683T	probably damaging	Het
Tacc3	G	T	5: 33,664,530	L211F	unknown	Het
Tbc1d8	A	G	1: 39,381,409	V681A	probably damaging	Het
Tbkbp1	T	C	11: 97,138,851	E493G	unknown	Het
Th	A	T	7: 142,894,086	V420E	possibly damaging	Het
Tmem132c	T	G	5: 127,564,357	V115G		Het
Usp40	G	A	1: 87,959,836	R915C	probably benign	Het
Wdr81	T	A	11: 75,451,522	H973L	possibly damaging	Het
Zdhhc6	A	G	19: 55,314,444	S42P	probably benign	Het
Zfp369	T	A	13: 65,296,675	I544N	possibly damaging	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
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
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'- TTGCTAAGTCCTCGGGCCTATG -3'
(R):5'- TTCACAGGTCTGGAGGGAAG -3'

Sequencing Primer
(F):5'- CCTATGGACCGATGGAAGCTTTG -3'
(R):5'- CAGGAAGATCTCTGGTCTACATG -3'

Posted On

2020-10-20