Mutagenetix > Incidental Mutation

Incidental Mutation 'R3949:Fan1'

307820

Institutional Source

Beutler Lab

Gene Symbol

Fan1

Ensembl Gene

ENSMUSG00000033458

Gene Name

FANCD2/FANCI-associated nuclease 1

Synonyms

Mtmr15, 6030441H18Rik

MMRRC Submission

040929-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3949 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63996506-64023843 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 64021292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 591 (E591*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032735] [ENSMUST00000163289]

AlphaFold

Q69ZT1

Predicted Effect

probably benign
Transcript: ENSMUST00000032735

SMART Domains

Protein: ENSMUSP00000032735
Gene: ENSMUSG00000030521

Domain	Start	End	E-Value	Type
Pfam:Mpp10	20	654	6.9e-217	PFAM
low complexity region	666	671	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107514
AA Change: L486F

Predicted Effect

probably null
Transcript: ENSMUST00000123627
AA Change: E591*

Predicted Effect

probably damaging
Transcript: ENSMUST00000163289
AA Change: L453F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130012
Gene: ENSMUSG00000033458
AA Change: L453F

Domain	Start	End	E-Value	Type
SCOP:d1ihga1	600	737	5e-5	SMART
Blast:VRR_NUC	834	867	2e-12	BLAST
VRR_NUC	896	1011	1.99e-37	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000177443
AA Change: L453F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135335
Gene: ENSMUSG00000033458
AA Change: L453F

Domain	Start	End	E-Value	Type
SCOP:d1ihga1	600	737	5e-5	SMART
Blast:VRR_NUC	834	867	2e-12	BLAST
VRR_NUC	896	1011	1.99e-37	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206778

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for mutations in this gene display renal tubular karyomegaly with polyploidy and defects in interstrand cross-link DNA repair. Some homozygous mice also display hepatocyte karyomegaly and liver dysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	T	13: 8,620,455 (GRCm39)	M314L	probably damaging	Het
Apcs	A	G	1: 172,722,259 (GRCm39)	F29S	probably damaging	Het
Arfgef1	CAGAG	CAG	1: 10,212,811 (GRCm39)		probably null	Het
Avl9	T	C	6: 56,705,650 (GRCm39)		probably null	Het
Ccdc38	A	G	10: 93,386,081 (GRCm39)	M66V	probably damaging	Het
Cfap46	T	C	7: 139,258,467 (GRCm39)	K269E	probably benign	Het
Chrdl2	A	C	7: 99,678,412 (GRCm39)	E328A	possibly damaging	Het
D430041D05Rik	T	C	2: 104,087,713 (GRCm39)	N421S	probably benign	Het
Dbndd1	G	T	8: 124,233,473 (GRCm39)	Q207K	probably benign	Het
Disc1	A	G	8: 125,814,874 (GRCm39)	E246G	probably damaging	Het
Dyrk4	A	G	6: 126,862,268 (GRCm39)	I408T	probably damaging	Het
Entpd7	G	A	19: 43,679,597 (GRCm39)	R50Q	probably benign	Het
Fpr1	C	A	17: 18,097,191 (GRCm39)	C266F	probably benign	Het
Gata4	C	T	14: 63,478,146 (GRCm39)	R151H	possibly damaging	Het
Gipr	T	C	7: 18,891,354 (GRCm39)	N441S	probably benign	Het
Ino80d	G	T	1: 63,113,662 (GRCm39)	Q263K	probably benign	Het
Ipo13	A	G	4: 117,758,239 (GRCm39)	I708T	probably benign	Het
Iqsec3	A	T	6: 121,364,783 (GRCm39)	Y835*	probably null	Het
Kctd8	C	T	5: 69,498,617 (GRCm39)	G10S	probably benign	Het
Lamb1	A	C	12: 31,332,648 (GRCm39)	K257Q	probably damaging	Het
Lcp1	A	G	14: 75,443,569 (GRCm39)	N195S	possibly damaging	Het
Or4k48	A	T	2: 111,475,871 (GRCm39)	I157K	possibly damaging	Het
Or5b121	T	C	19: 13,507,384 (GRCm39)	S160P	probably damaging	Het
Paxbp1	T	C	16: 90,840,905 (GRCm39)	D113G	probably damaging	Het
Pcdhb7	T	C	18: 37,476,141 (GRCm39)	S426P	probably benign	Het
Pcnx4	A	G	12: 72,603,076 (GRCm39)	D446G	probably benign	Het
Pkd1	T	A	17: 24,797,011 (GRCm39)		probably benign	Het
Pld2	A	G	11: 70,444,180 (GRCm39)	D492G	probably benign	Het
Ranbp17	G	A	11: 33,429,189 (GRCm39)	A352V	probably benign	Het
Rasgrf1	A	C	9: 89,863,797 (GRCm39)		probably benign	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Serpinb10	T	A	1: 107,468,636 (GRCm39)	L170H	probably damaging	Het
Sfxn4	A	G	19: 60,840,501 (GRCm39)	Y165H	probably damaging	Het
Slc32a1	C	T	2: 158,453,152 (GRCm39)		probably benign	Het
Slco5a1	A	T	1: 13,059,833 (GRCm39)	V296D	probably damaging	Het
Syn2	T	A	6: 115,204,290 (GRCm39)		probably null	Het
Tbx2	C	T	11: 85,729,101 (GRCm39)	Q495*	probably null	Het
Trav6-1	G	A	14: 52,875,993 (GRCm39)	V8M	probably benign	Het
Usp7	A	T	16: 8,534,428 (GRCm39)	N46K	probably damaging	Het
Vmn2r58	A	T	7: 41,513,348 (GRCm39)	F432I	probably benign	Het
Vmn2r99	T	C	17: 19,599,252 (GRCm39)	M312T	probably benign	Het
Washc2	T	C	6: 116,185,165 (GRCm39)		probably benign	Het
Yju2b	A	G	8: 84,985,453 (GRCm39)	V272A	probably benign	Het

Other mutations in Fan1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01648:Fan1	APN	7	64,022,297 (GRCm39)	missense	probably damaging	0.96
IGL01752:Fan1	APN	7	64,022,542 (GRCm39)	missense	probably benign	0.00
IGL01971:Fan1	APN	7	64,003,459 (GRCm39)	missense	probably damaging	0.98
IGL02043:Fan1	APN	7	64,021,367 (GRCm39)	splice site	probably null
IGL02542:Fan1	APN	7	64,014,408 (GRCm39)	missense	probably damaging	1.00
IGL02731:Fan1	APN	7	64,022,741 (GRCm39)	missense	possibly damaging	0.86
IGL03111:Fan1	APN	7	63,999,816 (GRCm39)	missense	possibly damaging	0.67
hitched	UTSW	7	64,014,377 (GRCm39)	missense	probably damaging	1.00
stitched	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R0270:Fan1	UTSW	7	63,998,619 (GRCm39)	missense	probably benign	0.26
R0632:Fan1	UTSW	7	64,012,947 (GRCm39)	missense	possibly damaging	0.50
R1714:Fan1	UTSW	7	64,016,435 (GRCm39)	missense	probably benign	0.29
R1750:Fan1	UTSW	7	64,022,761 (GRCm39)	missense	probably benign	0.14
R1822:Fan1	UTSW	7	64,022,554 (GRCm39)	missense	probably benign	0.00
R2031:Fan1	UTSW	7	64,004,172 (GRCm39)	missense	probably damaging	0.98
R2107:Fan1	UTSW	7	64,016,536 (GRCm39)	missense	probably damaging	1.00
R2126:Fan1	UTSW	7	63,996,636 (GRCm39)	missense	probably damaging	1.00
R2869:Fan1	UTSW	7	64,012,938 (GRCm39)	missense	probably benign	0.16
R2869:Fan1	UTSW	7	64,012,938 (GRCm39)	missense	probably benign	0.16
R2870:Fan1	UTSW	7	64,012,938 (GRCm39)	missense	probably benign	0.16
R2870:Fan1	UTSW	7	64,012,938 (GRCm39)	missense	probably benign	0.16
R2871:Fan1	UTSW	7	64,012,938 (GRCm39)	missense	probably benign	0.16
R2871:Fan1	UTSW	7	64,012,938 (GRCm39)	missense	probably benign	0.16
R2873:Fan1	UTSW	7	64,012,938 (GRCm39)	missense	probably benign	0.16
R3849:Fan1	UTSW	7	64,022,119 (GRCm39)	missense	probably damaging	1.00
R3850:Fan1	UTSW	7	64,022,119 (GRCm39)	missense	probably damaging	1.00
R4007:Fan1	UTSW	7	64,016,309 (GRCm39)	missense	probably damaging	1.00
R4490:Fan1	UTSW	7	64,018,928 (GRCm39)	missense	possibly damaging	0.84
R4623:Fan1	UTSW	7	64,023,301 (GRCm39)	nonsense	probably null
R4918:Fan1	UTSW	7	64,023,286 (GRCm39)	utr 5 prime	probably benign
R5328:Fan1	UTSW	7	64,004,217 (GRCm39)	missense	probably damaging	1.00
R5691:Fan1	UTSW	7	64,004,118 (GRCm39)	splice site	probably null
R5902:Fan1	UTSW	7	64,023,070 (GRCm39)	splice site	probably null
R5905:Fan1	UTSW	7	64,003,399 (GRCm39)	missense	probably benign	0.00
R6126:Fan1	UTSW	7	64,014,318 (GRCm39)	nonsense	probably null
R6195:Fan1	UTSW	7	64,004,119 (GRCm39)	missense	probably damaging	1.00
R6233:Fan1	UTSW	7	64,004,119 (GRCm39)	missense	probably damaging	1.00
R6405:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R6434:Fan1	UTSW	7	64,004,129 (GRCm39)	missense	probably damaging	0.99
R6460:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R6469:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R6471:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R6473:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R6696:Fan1	UTSW	7	63,999,826 (GRCm39)	missense	probably damaging	1.00
R6708:Fan1	UTSW	7	64,022,554 (GRCm39)	missense	probably benign	0.00
R6713:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R6714:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R6749:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R6841:Fan1	UTSW	7	64,014,377 (GRCm39)	missense	probably damaging	1.00
R6858:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R6859:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R6860:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R6925:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R6927:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R6936:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R6938:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R6939:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R7040:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R7120:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R7290:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R7292:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R7459:Fan1	UTSW	7	63,998,714 (GRCm39)	missense	probably damaging	0.99
R7460:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R7464:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R7465:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R7465:Fan1	UTSW	7	64,003,386 (GRCm39)	missense	probably benign	0.30
R7608:Fan1	UTSW	7	64,003,979 (GRCm39)	splice site	probably null
R7624:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R7629:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R7682:Fan1	UTSW	7	64,022,512 (GRCm39)	missense	probably benign	0.06
R7731:Fan1	UTSW	7	64,022,444 (GRCm39)	missense	probably benign	0.17
R7863:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R8054:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R8055:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R8057:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R8058:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R8101:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R8241:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R8262:Fan1	UTSW	7	64,023,054 (GRCm39)	missense	probably benign	0.02
R8274:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R8275:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R8276:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R8285:Fan1	UTSW	7	64,016,348 (GRCm39)	missense	probably damaging	0.96
R8318:Fan1	UTSW	7	63,999,803 (GRCm39)	missense	probably damaging	1.00
R8402:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R8466:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R8468:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
R8799:Fan1	UTSW	7	64,016,406 (GRCm39)	missense	probably damaging	0.99
R8821:Fan1	UTSW	7	64,004,249 (GRCm39)	missense	probably damaging	1.00
R9030:Fan1	UTSW	7	64,022,761 (GRCm39)	missense	probably benign	0.14
R9181:Fan1	UTSW	7	64,016,400 (GRCm39)	missense	probably damaging	0.98
R9525:Fan1	UTSW	7	64,022,007 (GRCm39)	critical splice donor site	probably null
R9564:Fan1	UTSW	7	63,999,240 (GRCm39)	missense	possibly damaging	0.65
R9565:Fan1	UTSW	7	63,999,240 (GRCm39)	missense	possibly damaging	0.65
R9796:Fan1	UTSW	7	64,022,278 (GRCm39)	missense	probably benign	0.09
X0025:Fan1	UTSW	7	64,022,583 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CACTGTCCTAAGTTAACAGCAC -3'
(R):5'- GCCTCATATCTAGAAGTAAATGGAATC -3'

Sequencing Primer
(F):5'- AGGGTTCCTCTGTGTAGCCC -3'
(R):5'- GCAGCTAGTGGTCAAAAG -3'

Posted On

2015-04-17