Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01971:Fan1'

182561

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fan1

Ensembl Gene

ENSMUSG00000033458

Gene Name

FANCD2/FANCI-associated nuclease 1

Synonyms

Mtmr15, 6030441H18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01971

Quality Score

Status

Chromosome

Chromosomal Location

63996506-64023843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64003459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 788 (R788G)

Gene Model

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

AlphaFold

Q69ZT1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163289
AA Change: R788G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130012
Gene: ENSMUSG00000033458
AA Change: R788G

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: R788G

PolyPhen 2 Score 0.980 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135335
Gene: ENSMUSG00000033458
AA Change: R788G

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

Coding Region Coverage

Validation Efficiency

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	C	T	7: 29,273,987 (GRCm39)		noncoding transcript	Het
Ankmy2	A	T	12: 36,243,792 (GRCm39)	K336*	probably null	Het
Areg	A	G	5: 91,288,870 (GRCm39)	T59A	probably benign	Het
Atp8b4	T	C	2: 126,304,536 (GRCm39)	I66V	probably benign	Het
Atrnl1	C	T	19: 57,741,715 (GRCm39)	T1158M	probably damaging	Het
Ckmt1	T	A	2: 121,194,064 (GRCm39)	I409N	probably benign	Het
Cnnm2	A	G	19: 46,860,115 (GRCm39)	T730A	probably benign	Het
Fbf1	T	C	11: 116,034,208 (GRCm39)		probably benign	Het
Galnt2l	G	A	8: 125,070,081 (GRCm39)	V499M	probably benign	Het
Heca	A	G	10: 17,791,162 (GRCm39)	F298S	probably damaging	Het
Klhl6	A	T	16: 19,768,276 (GRCm39)	V423E	probably damaging	Het
Notch3	T	C	17: 32,343,321 (GRCm39)	N1951D	probably damaging	Het
Osbp	T	C	19: 11,967,999 (GRCm39)	V636A	probably benign	Het
Szt2	T	C	4: 118,244,152 (GRCm39)	T1318A	probably benign	Het
Tnxb	G	A	17: 34,891,271 (GRCm39)	G538D	probably damaging	Het
Tpbpa	A	T	13: 61,088,047 (GRCm39)	F46L	possibly damaging	Het
Ttn	A	G	2: 76,554,123 (GRCm39)	V30860A	probably damaging	Het
Usf3	A	G	16: 44,037,809 (GRCm39)		probably null	Het
Utp23	C	A	15: 51,745,671 (GRCm39)	A57E	probably benign	Het
Vmn2r13	T	C	5: 109,321,981 (GRCm39)	M239V	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
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
R3949:Fan1	UTSW	7	64,021,292 (GRCm39)	nonsense	probably null
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

Posted On

2014-05-07