Mutagenetix > Incidental Mutation

Incidental Mutation 'R8429:Fanci'

653650

Institutional Source

Beutler Lab

Gene Symbol

Fanci

Ensembl Gene

ENSMUSG00000039187

Gene Name

Fanconi anemia, complementation group I

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.649) question?

Stock #

R8429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79391929-79450264 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79438385 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 929 (F929L)

Ref Sequence

ENSEMBL: ENSMUSP00000044931 (fasta)

Gene Model

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

AlphaFold

Q8K368

PDB Structure

Structure of the FANCI-FANCD2 complex [X-RAY DIFFRACTION]
Structure of a Y DNA-FANCI complex [X-RAY DIFFRACTION]
Structure of FANCI [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036865
AA Change: F929L

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044931
Gene: ENSMUSG00000039187
AA Change: F929L

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

SMART Domains

Protein: ENSMUSP00000117992
Gene: ENSMUSG00000039187

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206121

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	T	17: 48,037,066	L143*	probably null	Het
2900026A02Rik	T	C	5: 113,183,436	T971A	probably benign	Het
4932415D10Rik	G	T	10: 82,289,467	Q2570K	possibly damaging	Het
4933425L06Rik	A	G	13: 105,118,788	Y459C	probably damaging	Het
Abca6	A	T	11: 110,202,382	C1022S	probably benign	Het
Adgrf4	G	T	17: 42,667,449	N334K	probably benign	Het
Baz1b	A	G	5: 135,217,331	K545E	probably benign	Het
Bin3	A	G	14: 70,137,149	Y209C	probably damaging	Het
Btbd16	G	A	7: 130,795,337	A223T	probably benign	Het
C3	A	G	17: 57,222,811	V555A	probably damaging	Het
Calm3	T	A	7: 16,919,667		probably null	Het
Cct4	T	A	11: 22,996,030	L124Q	probably damaging	Het
Cenpf	C	T	1: 189,657,307	D1443N	possibly damaging	Het
Egfem1	G	A	3: 29,657,268		probably null	Het
Epha4	G	T	1: 77,390,036	Q591K	probably benign	Het
Fnip1	A	T	11: 54,475,696	D95V	possibly damaging	Het
Foxc1	A	T	13: 31,807,776	H190L	probably benign	Het
Gm45713	T	C	7: 45,136,116	S2G	unknown	Het
Grin2b	T	C	6: 135,733,916	I877M	probably damaging	Het
Hadha	T	C	5: 30,144,257	I119V	probably benign	Het
Hcar2	C	T	5: 123,865,475		probably benign	Het
Krt13	A	T	11: 100,121,125	L124Q	probably damaging	Het
Larp1b	A	G	3: 40,977,227	*336W	probably null	Het
Lrmp	C	A	6: 145,165,223	D251E	probably damaging	Het
Man2c1	T	C	9: 57,131,161	L35P	probably damaging	Het
Meioc	A	T	11: 102,674,206	N160I	probably benign	Het
Mfsd2b	G	T	12: 4,866,487	Q331K	possibly damaging	Het
Mical2	T	A	7: 112,345,253	V930E	probably benign	Het
Mrgprb4	A	T	7: 48,198,425	F252I	probably benign	Het
Nars	A	G	18: 64,501,320	Y511H	probably damaging	Het
Naxe	C	A	3: 88,058,152	S84I	probably damaging	Het
Ncam2	A	T	16: 81,589,635	D634V	probably damaging	Het
Npat	C	T	9: 53,570,609	Q1206*	probably null	Het
Nr1d2	G	A	14: 18,215,409	T201I	probably benign	Het
Nup155	C	T	15: 8,112,420	H99Y	probably damaging	Het
Olfr1130	G	T	2: 87,607,524	L45F	probably benign	Het
Olfr1289	G	A	2: 111,483,495	V50I	possibly damaging	Het
Olfr209	A	G	16: 59,361,627	V197A	possibly damaging	Het
Olfr826	A	G	10: 130,180,223	V219A	possibly damaging	Het
Pcnx3	C	T	19: 5,665,384	G1946E	probably damaging	Het
Pde6a	T	A	18: 61,232,844	Y214N	probably damaging	Het
Pex7	T	C	10: 19,894,328	T145A	probably damaging	Het
Plekhj1	C	T	10: 80,796,470	S146N	probably benign	Het
Ralgapb	C	T	2: 158,426,297	P107S	probably damaging	Het
Satb1	A	G	17: 51,767,950	M506T	probably damaging	Het
Sh3gl1	T	C	17: 56,018,821	N203D	possibly damaging	Het
Slc7a12	A	T	3: 14,497,282	I240F	probably benign	Het
Syt17	T	A	7: 118,434,341	Y144F	probably benign	Het
Thbd	G	T	2: 148,407,537	T137K	possibly damaging	Het
Tmem114	A	G	16: 8,412,167	F124L	probably damaging	Het
Ubtd1	G	T	19: 42,032,117		probably null	Het
Zfp458	A	G	13: 67,258,088	Y96H	possibly damaging	Het
Zfp78	T	C	7: 6,378,493	S181P	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
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
R8455:Fanci	UTSW	7	79435281	missense	probably damaging	1.00
R8720:Fanci	UTSW	7	79439677	missense	possibly damaging	0.92
R8786:Fanci	UTSW	7	79402550	missense	probably benign	0.02
R8946:Fanci	UTSW	7	79395978	missense	probably benign	0.03
R8986:Fanci	UTSW	7	79445724	missense	probably benign	0.03
R9213:Fanci	UTSW	7	79406223	missense	possibly damaging	0.70
R9333:Fanci	UTSW	7	79417846	missense	possibly damaging	0.47
R9485:Fanci	UTSW	7	79439657	missense	probably benign	0.10
R9508:Fanci	UTSW	7	79433285	missense	possibly damaging	0.89
R9624:Fanci	UTSW	7	79435369	missense	probably benign	0.12
R9649:Fanci	UTSW	7	79427206	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCTACACTATGGCGGATG -3'
(R):5'- CAGGTTCTTAATGCTGTGTTCC -3'

Sequencing Primer
(F):5'- CTACACTATGGCGGATGACCAG -3'
(R):5'- CTCCAGTCACTATCTGTGCTTAAATG -3'

Posted On

2020-10-20