Mutagenetix > Incidental Mutation

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

Essential gene?

Possibly essential (E-score: 0.651) question?

Stock #

R4993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79042056-79100013 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 79085126 bp (GRCm39)

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]

AlphaFold

Q8K368

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: 30,376,349 (GRCm39)	V173M	probably damaging	Het
9130008F23Rik	G	T	17: 41,191,052 (GRCm39)	Q126K	probably benign	Het
Abca15	C	A	7: 120,000,941 (GRCm39)	N1492K	probably damaging	Het
Afap1l2	C	T	19: 56,906,472 (GRCm39)	D402N	probably damaging	Het
Akap11	A	G	14: 78,750,408 (GRCm39)	F660L	probably damaging	Het
Bcl3	T	C	7: 19,554,102 (GRCm39)	T89A	probably benign	Het
Bub1b	T	C	2: 118,467,251 (GRCm39)	I858T	possibly damaging	Het
Cdk19	A	G	10: 40,352,214 (GRCm39)	D288G	possibly damaging	Het
Cyp2d34	T	A	15: 82,502,530 (GRCm39)	D202V	probably damaging	Het
Dip2c	T	G	13: 9,625,259 (GRCm39)	Y584*	probably null	Het
Dpf3	A	T	12: 83,378,635 (GRCm39)		probably null	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Emid1	G	T	11: 5,081,512 (GRCm39)	Q212K	probably benign	Het
Esm1	C	T	13: 113,349,933 (GRCm39)	Q118*	probably null	Het
Fahd2a	T	G	2: 127,278,284 (GRCm39)	I308L	probably benign	Het
Fastkd1	C	A	2: 69,533,084 (GRCm39)	V428F	probably damaging	Het
Fat2	A	T	11: 55,173,918 (GRCm39)	I2265N	probably damaging	Het
Gale	C	A	4: 135,694,171 (GRCm39)	H191Q	probably damaging	Het
Ghsr	T	A	3: 27,426,403 (GRCm39)	V153E	possibly damaging	Het
Gpc6	A	G	14: 117,861,951 (GRCm39)	N289S	possibly damaging	Het
Hoxb6	A	T	11: 96,191,537 (GRCm39)	Y153F	probably damaging	Het
Ints3	T	C	3: 90,322,814 (GRCm39)	T139A	probably benign	Het
Irf2bp2	A	G	8: 127,319,410 (GRCm39)	S256P	probably benign	Het
Klf4	G	T	4: 55,530,640 (GRCm39)	P148Q	probably damaging	Het
Loxl1	T	G	9: 58,219,820 (GRCm39)	H117P	probably damaging	Het
Lpl	A	G	8: 69,348,445 (GRCm39)	K225E	probably benign	Het
Lrba	T	A	3: 86,267,344 (GRCm39)	V1678D	probably damaging	Het
Med1	A	T	11: 98,054,730 (GRCm39)	F398Y	probably damaging	Het
Mfap2	T	C	4: 140,742,889 (GRCm39)	*186Q	probably null	Het
Mfsd3	T	C	15: 76,586,182 (GRCm39)	L105P	probably damaging	Het
Mlxip	T	G	5: 123,533,357 (GRCm39)	I122S	probably damaging	Het
Mmrn2	A	T	14: 34,118,355 (GRCm39)	Y107F	probably damaging	Het
Mtg1	G	T	7: 139,720,196 (GRCm39)	D88Y	probably null	Het
Mutyh	T	A	4: 116,675,132 (GRCm39)	S426R	probably benign	Het
Myo16	C	T	8: 10,526,094 (GRCm39)	T878I	probably damaging	Het
Myo9a	T	A	9: 59,768,755 (GRCm39)	Y912*	probably null	Het
Ncor1	A	C	11: 62,234,167 (GRCm39)	I669R	probably damaging	Het
Ndufs1	T	C	1: 63,202,935 (GRCm39)	I210V	probably benign	Het
Nek9	A	G	12: 85,357,194 (GRCm39)	C657R	probably damaging	Het
Noct	C	T	3: 51,157,442 (GRCm39)	T260I	probably damaging	Het
Nr1h4	A	T	10: 89,334,042 (GRCm39)	M102K	probably benign	Het
Obscn	G	A	11: 59,015,587 (GRCm39)	R1054C	possibly damaging	Het
Or10ag58	T	A	2: 87,265,496 (GRCm39)	F222I	probably benign	Het
Or1j20	C	A	2: 36,760,000 (GRCm39)	Q141K	probably benign	Het
Or2a57	A	G	6: 43,213,390 (GRCm39)	M283V	possibly damaging	Het
Or51ah3	T	A	7: 103,210,524 (GRCm39)	I280N	possibly damaging	Het
Or52z14	A	T	7: 103,252,863 (GRCm39)	M1L	probably benign	Het
Or5p75-ps1	G	A	7: 108,107,450 (GRCm39)	M62I	probably damaging	Het
Otol1	C	A	3: 69,926,211 (GRCm39)	Q129K	probably benign	Het
Otx1	A	T	11: 21,948,532 (GRCm39)		probably null	Het
Pcdhac2	C	A	18: 37,279,304 (GRCm39)	N761K	probably damaging	Het
Pde1c	A	T	6: 56,127,609 (GRCm39)	M452K	probably damaging	Het
Phkg2	T	C	7: 127,173,113 (GRCm39)	Y24H	probably damaging	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prg4	C	T	1: 150,336,432 (GRCm39)	C97Y	probably damaging	Het
Ptdss1	T	C	13: 67,093,352 (GRCm39)	V64A	probably benign	Het
Ralgapa2	T	C	2: 146,289,231 (GRCm39)	K324E	probably damaging	Het
Rfx5	G	A	3: 94,863,126 (GRCm39)	V73I	probably benign	Het
Riiad1	T	C	3: 94,380,170 (GRCm39)	T42A	probably benign	Het
Rims2	T	C	15: 39,317,841 (GRCm39)	V640A	possibly damaging	Het
Rnpep	G	T	1: 135,190,770 (GRCm39)	S592Y	possibly damaging	Het
Scap	T	C	9: 110,207,458 (GRCm39)	L431P	probably damaging	Het
Siglec1	T	A	2: 130,915,281 (GRCm39)	I1437F	possibly damaging	Het
Skic3	T	A	13: 76,331,055 (GRCm39)	M1495K	probably damaging	Het
Skint1	T	C	4: 111,885,530 (GRCm39)		probably null	Het
Slc44a1	A	G	4: 53,543,644 (GRCm39)	E396G	probably damaging	Het
Slc4a2	T	C	5: 24,639,867 (GRCm39)	F521S	probably damaging	Het
Smarcc1	T	A	9: 110,004,129 (GRCm39)	S394R	probably damaging	Het
Socs1	A	G	16: 10,602,549 (GRCm39)	S63P	probably benign	Het
Spopfm2	C	T	3: 94,083,623 (GRCm39)	G63R	probably damaging	Het
Sun1	T	G	5: 139,211,088 (GRCm39)	S20A	possibly damaging	Het
Tac4	A	T	11: 95,156,068 (GRCm39)	K50*	probably null	Het
Tasor	T	A	14: 27,151,071 (GRCm39)	W16R	possibly damaging	Het
Tcaf2	A	G	6: 42,619,574 (GRCm39)	I151T	probably damaging	Het
Tcf4	T	C	18: 69,814,840 (GRCm39)	V587A	probably damaging	Het
Ttn	T	A	2: 76,571,253 (GRCm39)	K24801*	probably null	Het
Tuba3b	G	T	6: 145,566,999 (GRCm39)	M413I	possibly damaging	Het
Ufl1	C	T	4: 25,267,832 (GRCm39)	A280T	possibly damaging	Het
Ugt2b5	T	A	5: 87,287,532 (GRCm39)	I212L	probably benign	Het
Umodl1	A	G	17: 31,205,459 (GRCm39)	T685A	probably benign	Het
Uqcrc1	T	A	9: 108,773,878 (GRCm39)	V183D	probably damaging	Het
Ush2a	A	G	1: 188,642,917 (GRCm39)	N4093S	probably benign	Het
Vmn1r167	C	T	7: 23,204,653 (GRCm39)	S121N	probably damaging	Het
Vmn1r47	A	G	6: 89,999,740 (GRCm39)	S291G	possibly damaging	Het
Vmn2r108	A	G	17: 20,701,449 (GRCm39)	V17A	probably benign	Het
Vmn2r58	T	A	7: 41,487,176 (GRCm39)	H573L	probably benign	Het
Xirp1	C	T	9: 119,847,858 (GRCm39)	V342I	probably damaging	Het
Zfp462	A	G	4: 55,051,204 (GRCm39)	M2226V	possibly damaging	Het
Zfp467	G	A	6: 48,415,963 (GRCm39)	H230Y	probably damaging	Het
Zfp595	T	A	13: 67,464,465 (GRCm39)	K599N	probably damaging	Het
Zfp819	C	A	7: 43,266,720 (GRCm39)	T401K	probably benign	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
R0506:Fanci	UTSW	7	79,081,926 (GRCm39)	missense	probably benign	0.29
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
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'- AGAGTCATGAAGAGAGTCTGTCTG -3'
(R):5'- AGGTGCATGTACACTTAGGC -3'

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

Posted On

2016-05-10