Mutagenetix > Incidental Mutation

Incidental Mutation 'R0506:Fanci'

47580

Institutional Source

Beutler Lab

Gene Symbol

Fanci

Ensembl Gene

ENSMUSG00000039187

Gene Name

Fanconi anemia, complementation group I

Synonyms

MMRRC Submission

038701-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.625) question?

Stock #

R0506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79042056-79100013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79081926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 623 (L623P)

Ref Sequence

ENSEMBL: ENSMUSP00000117992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036865] [ENSMUST00000132091] [ENSMUST00000137667] [ENSMUST00000205817]

AlphaFold

Q8K368

Predicted Effect

probably benign
Transcript: ENSMUST00000036865
AA Change: L651P

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000044931
Gene: ENSMUSG00000039187
AA Change: L651P

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: L623P

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117992
Gene: ENSMUSG00000039187
AA Change: L623P

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: ENSMUST00000205817

Meta Mutation Damage Score

0.1125

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (100/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,137,319 (GRCm39)	C378*	probably null	Het
Ago3	T	C	4: 126,311,045 (GRCm39)	D56G	possibly damaging	Het
Ahnak	G	T	19: 8,986,492 (GRCm39)	G2592V	probably damaging	Het
Aldh6a1	C	T	12: 84,480,300 (GRCm39)	G470D	probably damaging	Het
Ankub1	T	A	3: 57,597,796 (GRCm39)	N58I	probably damaging	Het
Apol7b	G	T	15: 77,309,728 (GRCm39)	T23K	probably benign	Het
Arap2	G	A	5: 62,763,474 (GRCm39)	P1557S	possibly damaging	Het
Arhgap24	T	C	5: 103,023,643 (GRCm39)	Y136H	probably damaging	Het
Atp1a1	A	G	3: 101,497,128 (GRCm39)	F393L	probably damaging	Het
Bcdin3d	A	T	15: 99,368,873 (GRCm39)	C109S	probably damaging	Het
Catsperd	A	G	17: 56,965,078 (GRCm39)	K475R	possibly damaging	Het
Cblb	A	G	16: 52,024,843 (GRCm39)	T913A	probably benign	Het
Cbx6	A	G	15: 79,712,404 (GRCm39)	L341P	probably benign	Het
Cd177	T	C	7: 24,457,781 (GRCm39)	Y159C	probably damaging	Het
Cdh20	A	G	1: 110,027,844 (GRCm39)	N530D	probably damaging	Het
Cdk8	T	C	5: 146,235,682 (GRCm39)	F270L	probably damaging	Het
Ces2c	A	T	8: 105,574,656 (GRCm39)	T38S	probably damaging	Het
Chst14	T	C	2: 118,758,202 (GRCm39)	L357P	probably damaging	Het
Clca3b	T	A	3: 144,528,627 (GRCm39)		probably benign	Het
Cluh	A	G	11: 74,555,720 (GRCm39)	S839G	probably benign	Het
Cnga4	T	A	7: 105,056,947 (GRCm39)	V350E	probably damaging	Het
Creb1	G	A	1: 64,609,426 (GRCm39)	G180R	probably damaging	Het
Csmd3	T	C	15: 48,320,907 (GRCm39)	E301G	probably benign	Het
Cyp4f18	A	T	8: 72,749,844 (GRCm39)	D268E	probably benign	Het
Dock5	A	G	14: 68,022,241 (GRCm39)		probably benign	Het
Dpy19l4	T	A	4: 11,289,715 (GRCm39)	H332L	probably benign	Het
Dync2h1	T	A	9: 7,113,153 (GRCm39)	H224L	probably benign	Het
Dzip1l	C	A	9: 99,545,134 (GRCm39)	Q585K	possibly damaging	Het
Erf	C	T	7: 24,943,801 (GRCm39)	G510D	probably damaging	Het
Fat1	T	C	8: 45,475,988 (GRCm39)	V1655A	probably damaging	Het
Fat4	T	C	3: 38,942,463 (GRCm39)	V452A	probably benign	Het
Gal3st4	C	T	5: 138,264,151 (GRCm39)	G283S	probably benign	Het
Gm5422	A	G	10: 31,126,318 (GRCm39)		noncoding transcript	Het
Gnal	C	T	18: 67,221,744 (GRCm39)	T49I	unknown	Het
Gng5	A	G	3: 146,209,103 (GRCm39)	N57S	probably damaging	Het
Herc1	A	G	9: 66,355,441 (GRCm39)	I2231V	probably damaging	Het
Hgfac	G	T	5: 35,201,584 (GRCm39)	G272W	probably damaging	Het
Hmcn1	T	A	1: 150,618,092 (GRCm39)	D1265V	possibly damaging	Het
Ifi207	T	A	1: 173,563,878 (GRCm39)	Q47L	possibly damaging	Het
Klhl40	G	A	9: 121,607,133 (GRCm39)	E98K	probably damaging	Het
Lepr	G	T	4: 101,630,207 (GRCm39)		probably benign	Het
Lyst	A	G	13: 13,812,600 (GRCm39)	H1004R	probably benign	Het
Map3k1	T	A	13: 111,892,298 (GRCm39)	R986*	probably null	Het
Mmp1b	C	A	9: 7,387,013 (GRCm39)	Q66H	possibly damaging	Het
Mpo	T	C	11: 87,694,330 (GRCm39)	S107P	probably benign	Het
Mroh9	T	C	1: 162,888,205 (GRCm39)	H290R	possibly damaging	Het
Myo7b	A	G	18: 32,097,439 (GRCm39)		probably null	Het
Myom1	T	C	17: 71,399,215 (GRCm39)		probably benign	Het
Nalcn	C	T	14: 123,834,026 (GRCm39)	V50I	possibly damaging	Het
Negr1	A	G	3: 156,866,385 (GRCm39)		probably benign	Het
Nlrc5	T	G	8: 95,219,753 (GRCm39)		probably benign	Het
Nyap2	G	A	1: 81,065,029 (GRCm39)	D14N	probably damaging	Het
Or10w1	T	A	19: 13,632,261 (GRCm39)	I151N	possibly damaging	Het
Or2h1	C	A	17: 37,404,203 (GRCm39)	G188W	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Parp14	A	T	16: 35,661,779 (GRCm39)	S1419T	possibly damaging	Het
Piezo2	A	G	18: 63,160,615 (GRCm39)	F2347S	probably damaging	Het
Pigf	A	G	17: 87,316,337 (GRCm39)	V147A	probably benign	Het
Pkhd1	A	T	1: 20,629,693 (GRCm39)	M637K	probably benign	Het
Plce1	T	C	19: 38,748,582 (GRCm39)	I1771T	probably benign	Het
Ppp6c	A	T	2: 39,096,660 (GRCm39)		probably benign	Het
Prag1	T	C	8: 36,570,854 (GRCm39)	V479A	possibly damaging	Het
Prss33	A	T	17: 24,054,079 (GRCm39)	D42E	probably benign	Het
Psmb10	A	G	8: 106,664,177 (GRCm39)	V64A	possibly damaging	Het
Psmd14	A	G	2: 61,630,407 (GRCm39)	T306A	probably benign	Het
Psmg1	C	T	16: 95,790,687 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,266,671 (GRCm39)		probably null	Het
Reln	C	T	5: 22,125,494 (GRCm39)	V2730I	probably damaging	Het
Sec24a	A	T	11: 51,634,622 (GRCm39)	H101Q	probably benign	Het
Selenoi	A	G	5: 30,471,954 (GRCm39)	N385S	probably benign	Het
Slc24a4	T	C	12: 102,097,882 (GRCm39)		probably null	Het
Slc4a10	G	A	2: 62,080,877 (GRCm39)	S338N	probably benign	Het
Slfn3	A	T	11: 83,103,986 (GRCm39)	T286S	probably damaging	Het
Snx29	A	G	16: 11,213,167 (GRCm39)	D111G	probably benign	Het
Sp8	T	C	12: 118,812,300 (GRCm39)	S52P	possibly damaging	Het
Srek1	G	T	13: 103,897,098 (GRCm39)	T81K	probably damaging	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Taf3	A	G	2: 9,945,804 (GRCm39)	V600A	probably benign	Het
Tatdn2	C	A	6: 113,679,550 (GRCm39)	D298E	probably benign	Het
Tmem253	A	T	14: 52,254,663 (GRCm39)		probably benign	Het
Tmem63a	T	A	1: 180,785,614 (GRCm39)		probably null	Het
Tmprss11b	T	C	5: 86,809,499 (GRCm39)	D331G	probably damaging	Het
Tor1aip1	T	A	1: 155,883,420 (GRCm39)	K143*	probably null	Het
Trappc8	A	T	18: 20,977,245 (GRCm39)	N841K	possibly damaging	Het
Trio	T	C	15: 27,855,049 (GRCm39)	Q711R	probably benign	Het
Trmt10b	C	A	4: 45,304,306 (GRCm39)	T114N	probably damaging	Het
Trpv2	C	A	11: 62,473,732 (GRCm39)	A129D	probably benign	Het
Ttll4	T	G	1: 74,727,777 (GRCm39)	D846E	probably benign	Het
Ugt2a3	A	G	5: 87,484,508 (GRCm39)	L172P	possibly damaging	Het
Usp19	T	A	9: 108,371,686 (GRCm39)	F355Y	probably damaging	Het
Vmn1r209	C	T	13: 22,990,114 (GRCm39)	G192D	probably damaging	Het
Vmn2r107	T	G	17: 20,578,021 (GRCm39)	D443E	probably benign	Het
Wee2	A	T	6: 40,440,187 (GRCm39)	E445V	probably benign	Het
Zer1	A	T	2: 29,991,819 (GRCm39)	I680N	probably damaging	Het
Zfhx4	T	C	3: 5,467,795 (GRCm39)	L2651P	probably damaging	Het
Zfp692	C	T	11: 58,199,881 (GRCm39)	Q157*	probably null	Het
Zfp964	T	A	8: 70,116,587 (GRCm39)	C396S	unknown	Het

Other mutations in Fanci

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00717:Fanci	APN	7	79,062,448 (GRCm39)	missense	probably damaging	1.00
IGL00718:Fanci	APN	7	79,093,922 (GRCm39)	missense	possibly damaging	0.92
IGL00764:Fanci	APN	7	79,045,660 (GRCm39)	start codon destroyed	probably null	0.05
IGL01669:Fanci	APN	7	79,098,925 (GRCm39)	missense	probably benign	0.01
IGL02338:Fanci	APN	7	79,083,279 (GRCm39)	nonsense	probably null
IGL02428:Fanci	APN	7	79,094,264 (GRCm39)	intron	probably benign
IGL03029:Fanci	APN	7	79,093,747 (GRCm39)	missense	probably benign	0.00
BB005:Fanci	UTSW	7	79,094,459 (GRCm39)	missense	probably benign
BB015:Fanci	UTSW	7	79,094,459 (GRCm39)	missense	probably benign
P0023:Fanci	UTSW	7	79,052,048 (GRCm39)	missense	probably benign	0.00
P0047:Fanci	UTSW	7	79,093,792 (GRCm39)	missense	probably damaging	1.00
R0310:Fanci	UTSW	7	79,057,165 (GRCm39)	splice site	probably benign
R0388:Fanci	UTSW	7	79,089,378 (GRCm39)	missense	probably benign
R0570:Fanci	UTSW	7	79,093,711 (GRCm39)	missense	probably damaging	1.00
R0631:Fanci	UTSW	7	79,055,953 (GRCm39)	missense	probably damaging	1.00
R0746:Fanci	UTSW	7	79,089,429 (GRCm39)	missense	probably damaging	0.99
R0981:Fanci	UTSW	7	79,054,914 (GRCm39)	missense	probably benign	0.01
R1559:Fanci	UTSW	7	79,082,941 (GRCm39)	missense	probably damaging	1.00
R1656:Fanci	UTSW	7	79,054,936 (GRCm39)	splice site	probably benign
R1748:Fanci	UTSW	7	79,080,236 (GRCm39)	missense	probably damaging	1.00
R1815:Fanci	UTSW	7	79,088,056 (GRCm39)	missense	probably damaging	1.00
R2164:Fanci	UTSW	7	79,045,743 (GRCm39)	missense	probably benign	0.22
R3508:Fanci	UTSW	7	79,083,220 (GRCm39)	missense	probably benign	0.01
R3908:Fanci	UTSW	7	79,083,257 (GRCm39)	missense	possibly damaging	0.91
R4036:Fanci	UTSW	7	79,094,570 (GRCm39)	missense	probably damaging	1.00
R4066:Fanci	UTSW	7	79,062,505 (GRCm39)	critical splice donor site	probably null
R4633:Fanci	UTSW	7	79,076,990 (GRCm39)	missense	probably damaging	1.00
R4651:Fanci	UTSW	7	79,085,004 (GRCm39)	missense	possibly damaging	0.74
R4993:Fanci	UTSW	7	79,085,126 (GRCm39)	makesense	probably null
R5341:Fanci	UTSW	7	79,055,926 (GRCm39)	missense	probably damaging	1.00
R5806:Fanci	UTSW	7	79,098,596 (GRCm39)	missense	probably damaging	0.97
R5898:Fanci	UTSW	7	79,083,069 (GRCm39)	missense	probably benign
R5919:Fanci	UTSW	7	79,094,486 (GRCm39)	missense	probably damaging	1.00
R5960:Fanci	UTSW	7	79,093,510 (GRCm39)	missense	probably damaging	1.00
R6367:Fanci	UTSW	7	79,075,943 (GRCm39)	missense	probably damaging	0.99
R6436:Fanci	UTSW	7	79,090,446 (GRCm39)	missense	probably benign	0.03
R6468:Fanci	UTSW	7	79,067,687 (GRCm39)	missense	probably benign	0.10
R6508:Fanci	UTSW	7	79,093,516 (GRCm39)	missense	probably damaging	0.99
R6886:Fanci	UTSW	7	79,070,090 (GRCm39)	missense	possibly damaging	0.81
R7554:Fanci	UTSW	7	79,062,500 (GRCm39)	missense	probably damaging	0.99
R7588:Fanci	UTSW	7	79,084,017 (GRCm39)	missense	possibly damaging	0.81
R7644:Fanci	UTSW	7	79,094,219 (GRCm39)	nonsense	probably null
R7697:Fanci	UTSW	7	79,056,040 (GRCm39)	critical splice donor site	probably null
R7732:Fanci	UTSW	7	79,062,400 (GRCm39)	missense	possibly damaging	0.65
R7928:Fanci	UTSW	7	79,094,459 (GRCm39)	missense	probably benign
R8170:Fanci	UTSW	7	79,083,305 (GRCm39)	splice site	probably null
R8355:Fanci	UTSW	7	79,085,029 (GRCm39)	missense	probably damaging	1.00
R8425:Fanci	UTSW	7	79,083,289 (GRCm39)	missense	probably benign	0.07
R8429:Fanci	UTSW	7	79,088,133 (GRCm39)	missense	possibly damaging	0.65
R8455:Fanci	UTSW	7	79,085,029 (GRCm39)	missense	probably damaging	1.00
R8720:Fanci	UTSW	7	79,089,425 (GRCm39)	missense	possibly damaging	0.92
R8786:Fanci	UTSW	7	79,052,298 (GRCm39)	missense	probably benign	0.02
R8946:Fanci	UTSW	7	79,045,726 (GRCm39)	missense	probably benign	0.03
R8986:Fanci	UTSW	7	79,095,472 (GRCm39)	missense	probably benign	0.03
R9213:Fanci	UTSW	7	79,055,971 (GRCm39)	missense	possibly damaging	0.70
R9333:Fanci	UTSW	7	79,067,594 (GRCm39)	missense	possibly damaging	0.47
R9485:Fanci	UTSW	7	79,089,405 (GRCm39)	missense	probably benign	0.10
R9508:Fanci	UTSW	7	79,083,033 (GRCm39)	missense	possibly damaging	0.89
R9624:Fanci	UTSW	7	79,085,117 (GRCm39)	missense	probably benign	0.12
R9649:Fanci	UTSW	7	79,076,954 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCGGACTTCCCTGAGAATGCTG -3'
(R):5'- GATGGGTCACCAATAACCGACATGG -3'

Sequencing Primer
(F):5'- AGAATGCTGACCGCCTCTG -3'
(R):5'- GTCACCAATAACCGACATGGAAAAG -3'

Posted On

2013-06-12