Mutagenetix > Incidental Mutation

Incidental Mutation 'R8262:Fan1'

639858

Institutional Source

Beutler Lab

Gene Symbol

Fan1

Ensembl Gene

ENSMUSG00000033458

Gene Name

FANCD2/FANCI-associated nuclease 1

Synonyms

Mtmr15, 6030441H18Rik

MMRRC Submission

067687-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63996506-64023843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64023054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 66 (N66K)

Ref Sequence

ENSEMBL: ENSMUSP00000130012 (fasta)

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

probably benign
Transcript: ENSMUST00000163289
AA Change: N66K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130012
Gene: ENSMUSG00000033458
AA Change: N66K

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

98% (58/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,107,709 (GRCm39)	D358G	possibly damaging	Het
Adam26a	A	T	8: 44,022,178 (GRCm39)	C437*	probably null	Het
Arhgap10	A	T	8: 78,037,468 (GRCm39)	C587S	probably benign	Het
Bank1	G	A	3: 135,948,721 (GRCm39)	T285I	probably benign	Het
Bhlha15	C	T	5: 144,128,257 (GRCm39)	S123L	probably damaging	Het
Cacul1	T	C	19: 60,517,475 (GRCm39)	*305W	probably null	Het
Cep112	A	C	11: 108,393,977 (GRCm39)	K365T	probably damaging	Het
Chrm1	T	A	19: 8,656,453 (GRCm39)	L386Q	probably damaging	Het
Cnbp	C	A	6: 87,822,194 (GRCm39)	R110L	probably damaging	Het
Cntnap5a	A	T	1: 116,116,140 (GRCm39)	I541F	possibly damaging	Het
Dscaml1	T	G	9: 45,658,438 (GRCm39)		probably benign	Het
Enpp3	C	T	10: 24,653,824 (GRCm39)	S711N	probably damaging	Het
Eps8	G	T	6: 137,459,252 (GRCm39)	N750K	probably benign	Het
Fbf1	G	A	11: 116,044,845 (GRCm39)	T323I	probably benign	Het
Flg2	A	T	3: 93,127,517 (GRCm39)	N2143I	unknown	Het
Fn3k	A	C	11: 121,339,744 (GRCm39)	T169P	probably benign	Het
Fubp1	T	G	3: 151,926,356 (GRCm39)	I320R	probably damaging	Het
Gfpt2	A	T	11: 49,714,607 (GRCm39)	E335D	probably benign	Het
Gm17472	T	C	6: 42,957,968 (GRCm39)	I79T	probably benign	Het
Gpr151	C	A	18: 42,711,437 (GRCm39)	E414*	probably null	Het
Gpr179	G	A	11: 97,226,983 (GRCm39)	S1724L	probably benign	Het
Gtf2h3	C	A	5: 124,728,967 (GRCm39)	Y175*	probably null	Het
Hal	T	A	10: 93,328,369 (GRCm39)	I215N	probably damaging	Het
Htt	A	G	5: 35,053,304 (GRCm39)	T2546A	probably benign	Het
Ighv1-11	T	C	12: 114,576,077 (GRCm39)	Y46C	probably damaging	Het
Lcn4	T	C	2: 26,558,375 (GRCm39)	D170G	probably benign	Het
Lrch1	T	A	14: 75,055,935 (GRCm39)	D306V	probably damaging	Het
Mtcl1	A	C	17: 66,650,653 (GRCm39)	V1604G	probably damaging	Het
Or10g3b	T	C	14: 52,586,625 (GRCm39)	N293D	probably damaging	Het
Or3a10	A	G	11: 73,935,926 (GRCm39)	L58P	probably damaging	Het
Or4c108	T	G	2: 88,803,552 (GRCm39)	S228R	probably damaging	Het
Or4k49	T	G	2: 111,494,587 (GRCm39)	N5K	possibly damaging	Het
Or9i1b	G	A	19: 13,897,226 (GRCm39)	V281I	probably benign	Het
Ormdl2	A	G	10: 128,654,837 (GRCm39)	L125P	possibly damaging	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Pde3a	T	A	6: 141,433,527 (GRCm39)	F803Y	possibly damaging	Het
Pnpla7	C	T	2: 24,873,635 (GRCm39)	R214W	probably damaging	Het
Prtg	T	C	9: 72,813,520 (GRCm39)	V960A	probably benign	Het
Ptgdr	T	C	14: 45,090,858 (GRCm39)	E300G	probably benign	Het
Ptpru	G	T	4: 131,522,274 (GRCm39)	Y710*	probably null	Het
Pxdn	T	A	12: 30,049,195 (GRCm39)	Y620*	probably null	Het
Pycard	T	C	7: 127,592,797 (GRCm39)	D10G	possibly damaging	Het
Sh3d21	G	T	4: 126,055,775 (GRCm39)	Q160K	probably benign	Het
Slc26a7	G	A	4: 14,621,269 (GRCm39)	P39L	probably benign	Het
Snrnp200	T	A	2: 127,068,928 (GRCm39)	Y936N	probably damaging	Het
Sox8	T	C	17: 25,786,617 (GRCm39)	D362G	possibly damaging	Het
Tcp11	T	G	17: 28,286,001 (GRCm39)	N538T	probably damaging	Het
Tent2	T	C	13: 93,310,997 (GRCm39)		probably benign	Het
Tmem132e	A	C	11: 82,325,666 (GRCm39)	E222A	probably benign	Het
Trpc7	T	C	13: 56,937,602 (GRCm39)	E618G	probably benign	Het
Tsc2	G	T	17: 24,833,340 (GRCm39)	Q695K	probably benign	Het
Txlnb	C	A	10: 17,718,752 (GRCm39)	L528M	possibly damaging	Het
Vmn1r176	A	G	7: 23,534,878 (GRCm39)	Y92H	probably benign	Het
Vmn2r85	T	A	10: 130,254,738 (GRCm39)	I649F	probably damaging	Het
Vwa8	T	C	14: 79,171,272 (GRCm39)		probably null	Het
Wrn	A	T	8: 33,814,274 (GRCm39)	I390N	probably benign	Het
Zfp493	T	A	13: 67,934,976 (GRCm39)	C310S	probably damaging	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
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
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'- TAAAGTAGGGACTGGTCTGCTG -3'
(R):5'- ATAGTCATGCCGTCACAAAGG -3'

Sequencing Primer
(F):5'- GTTGTATGCCCAGTTTTGAACCAC -3'
(R):5'- TAGTCATGCCGTCACAAAGGAAATC -3'

Posted On

2020-07-28