Mutagenetix > Incidental Mutation

Incidental Mutation 'R7608:Fan1'

628163

Institutional Source

Beutler Lab

Gene Symbol

Fan1

Ensembl Gene

ENSMUSG00000033458

Gene Name

FANCD2/FANCI-associated nuclease 1

Synonyms

Mtmr15, 6030441H18Rik

MMRRC Submission

045678-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7608 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63996506-64023843 bp(-) (GRCm39)

Type of Mutation

splice site (140 bp from exon)

DNA Base Change (assembly)

A to T at 64003979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130012 (fasta)

Gene Model

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

AlphaFold

Q69ZT1

Predicted Effect

probably null
Transcript: ENSMUST00000163289

SMART Domains

Protein: ENSMUSP00000130012
Gene: ENSMUSG00000033458

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,154,347 (GRCm39)	F311S	probably benign	Het
Adamts7	C	A	9: 90,055,826 (GRCm39)	T193N	possibly damaging	Het
Akr1b7	A	G	6: 34,397,457 (GRCm39)	N273S	probably damaging	Het
Asz1	G	A	6: 18,077,252 (GRCm39)	T151M	probably damaging	Het
Atosb	A	G	4: 43,036,533 (GRCm39)	L66P	probably damaging	Het
Atrnl1	T	A	19: 57,703,119 (GRCm39)	Y1046N	probably damaging	Het
Cacna2d1	T	C	5: 16,564,022 (GRCm39)	S902P	probably damaging	Het
Casp3	T	A	8: 47,087,368 (GRCm39)	I105K	probably benign	Het
Ccdc146	C	T	5: 21,506,450 (GRCm39)	V664I	probably benign	Het
Cfap61	G	A	2: 145,805,451 (GRCm39)	C267Y	possibly damaging	Het
Dgkz	A	T	2: 91,764,399 (GRCm39)		probably null	Het
Dnah11	G	T	12: 118,104,505 (GRCm39)		probably null	Het
Duox1	C	A	2: 122,156,616 (GRCm39)	Y514*	probably null	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Fgfrl1	A	T	5: 108,853,211 (GRCm39)	K278M	probably damaging	Het
Fign	T	C	2: 63,809,063 (GRCm39)	I736V	possibly damaging	Het
Galns	A	G	8: 123,318,184 (GRCm39)	F410S	probably benign	Het
Hspbp1	C	A	7: 4,663,821 (GRCm39)	K341N	possibly damaging	Het
Idh3b	A	T	2: 130,122,900 (GRCm39)	S296R	probably damaging	Het
Ifi44	A	G	3: 151,438,045 (GRCm39)	F414S	probably damaging	Het
Kdm3a	T	A	6: 71,577,731 (GRCm39)	M690L	probably benign	Het
Ldaf1	A	G	7: 119,704,011 (GRCm39)	K19E	probably damaging	Het
Lrrc49	C	T	9: 60,510,005 (GRCm39)	G488S	probably null	Het
Mcc	T	C	18: 44,624,294 (GRCm39)	N417S	possibly damaging	Het
Melk	T	A	4: 44,325,571 (GRCm39)		probably null	Het
Mtcl1	T	C	17: 66,650,300 (GRCm39)	R1722G	probably damaging	Het
Or4a79	A	G	2: 89,551,642 (GRCm39)	V271A	probably benign	Het
Or51f23c-ps1	A	G	7: 102,431,132 (GRCm39)	I150V	probably benign	Het
Or5b119	G	A	19: 13,456,956 (GRCm39)	T202I	possibly damaging	Het
Or8d2	T	A	9: 38,759,806 (GRCm39)	V132D	possibly damaging	Het
Pdzrn3	T	C	6: 101,128,713 (GRCm39)	E651G	probably damaging	Het
Pop5	A	G	5: 115,375,931 (GRCm39)		probably benign	Het
Prox1	T	A	1: 189,885,642 (GRCm39)	M602L	probably benign	Het
Prpf39	G	A	12: 65,100,220 (GRCm39)	A298T	probably benign	Het
Scg2	T	C	1: 79,413,898 (GRCm39)	E275G	probably benign	Het
Scn11a	A	T	9: 119,644,379 (GRCm39)		probably null	Het
Slc16a4	A	T	3: 107,210,443 (GRCm39)	Y371F	probably damaging	Het
Slc4a1ap	T	A	5: 31,693,533 (GRCm39)	M489K	possibly damaging	Het
Spata13	A	G	14: 60,929,956 (GRCm39)	N505D	possibly damaging	Het
Tas2r129	A	G	6: 132,928,156 (GRCm39)	N31S	probably damaging	Het
Tnn	A	T	1: 159,915,984 (GRCm39)	Y1508*	probably null	Het
Trim23	T	C	13: 104,328,541 (GRCm39)	V354A	probably benign	Het
Tsc1	A	T	2: 28,548,748 (GRCm39)	T18S	probably benign	Het
Txlnb	A	G	10: 17,691,146 (GRCm39)	K232R	probably damaging	Het
Vmn1r53	C	T	6: 90,201,104 (GRCm39)	M73I	probably benign	Het
Vmn1r67	G	A	7: 10,181,290 (GRCm39)	V185M	possibly damaging	Het
Vmn2r14	A	G	5: 109,369,276 (GRCm39)	I99T	probably benign	Het
Zfp318	T	G	17: 46,710,935 (GRCm39)	V886G	probably damaging	Het
Zfp760	A	G	17: 21,941,797 (GRCm39)	N324S	probably benign	Het
Zfp819	T	C	7: 43,266,357 (GRCm39)	V280A	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
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
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'- CTGCAGAGCATCTAAGAGGC -3'
(R):5'- GAAGTACAAGCACCTCTTCAGC -3'

Sequencing Primer
(F):5'- CCCCCAGAGAAGCAGGC -3'
(R):5'- ACCTCTTCAGCCGGCTG -3'

Posted On

2020-01-28