Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:Fan1'

59707

Institutional Source

Beutler Lab

Gene Symbol

Fan1

Ensembl Gene

ENSMUSG00000033458

Gene Name

FANCD2/FANCI-associated nuclease 1

Synonyms

Mtmr15

MMRRC Submission

038821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0632 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64346758-64374095 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64363199 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 665 (V665A)

Ref Sequence

ENSEMBL: ENSMUSP00000130012 (fasta)

Gene Model

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

AlphaFold

Q69ZT1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163289
AA Change: V665A

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130012
Gene: ENSMUSG00000033458
AA Change: V665A

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

possibly damaging
Transcript: ENSMUST00000177443
AA Change: V665A

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135335
Gene: ENSMUSG00000033458
AA Change: V665A

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: ENSMUST00000206778

Meta Mutation Damage Score

0.1435

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	C	1: 136,227,618	D83G	probably benign	Het
Acaa1a	T	A	9: 119,347,818		probably benign	Het
Adgrg7	T	A	16: 56,742,589	T462S	possibly damaging	Het
Akap6	A	T	12: 52,937,148	N825I	probably damaging	Het
Ankib1	T	A	5: 3,772,529	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167	S633G	possibly damaging	Het
Ap4e1	C	A	2: 127,049,280	Y522*	probably null	Het
Art5	G	A	7: 102,097,957	T205I	probably damaging	Het
Ascc2	T	A	11: 4,649,855	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,298,208	D529G	probably benign	Het
C2cd4a	T	C	9: 67,831,563	E66G	probably benign	Het
C8a	T	C	4: 104,856,492	D147G	probably damaging	Het
Ccdc14	T	C	16: 34,721,649	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,482,749		probably benign	Het
Cfap54	C	T	10: 92,885,096	E2543K	unknown	Het
Cldn13	C	T	5: 134,914,747	E195K	probably benign	Het
Cp	A	G	3: 19,971,082	S402G	probably null	Het
Cpa3	T	C	3: 20,225,194	T194A	probably benign	Het
Crygf	C	A	1: 65,927,997	Y93*	probably null	Het
Ctsh	A	G	9: 90,061,582	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 27,158,246	D428G	possibly damaging	Het
Dnah17	C	G	11: 118,067,682		probably benign	Het
Dnah3	A	G	7: 119,967,905	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,732,134	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,272,346		probably benign	Het
Dst	G	T	1: 34,271,413	R4098L	probably damaging	Het
Efhb	A	G	17: 53,413,459		probably benign	Het
Epha7	A	T	4: 28,821,104	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,437,881	D684V	probably damaging	Het
Fbn2	A	G	18: 58,037,747	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,073,918	A2V	probably benign	Het
G6pd2	A	G	5: 61,810,171	N430D	probably benign	Het
Gm13119	G	A	4: 144,363,782	C464Y	probably damaging	Het
Gm13547	T	A	2: 29,761,584	D7E	possibly damaging	Het
Hdac5	A	T	11: 102,205,812	D260E	probably damaging	Het
Hist1h4i	G	T	13: 22,041,027	Y99*	probably null	Het
Hsf2bp	T	C	17: 32,013,346	E142G	probably damaging	Het
Igf1r	C	T	7: 68,165,155	T268I	probably damaging	Het
Kcne3	C	T	7: 100,184,439	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,979,372	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,853,581		probably benign	Het
Lama1	C	T	17: 67,752,368		probably benign	Het
Lcp2	C	T	11: 34,082,426	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,796,028	N2047K	probably damaging	Het
Mcub	T	C	3: 129,918,726	M167V	probably benign	Het
Mia2	T	C	12: 59,136,143	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077	I460F	possibly damaging	Het
Msh4	A	G	3: 153,896,895	I232T	probably damaging	Het
Msra	T	A	14: 64,210,532	M145L	probably benign	Het
Myo7a	A	T	7: 98,112,150		probably benign	Het
Nme8	A	T	13: 19,658,036	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115	F353I	probably damaging	Het
Nphp3	A	G	9: 104,018,274	K384E	probably damaging	Het
Olfr572	C	T	7: 102,928,604		probably null	Het
Olfr652	A	G	7: 104,564,337	I39V	probably benign	Het
Olfr672	A	G	7: 104,996,703	I67T	probably benign	Het
Phox2b	T	G	5: 67,096,214		probably benign	Het
Plec	A	T	15: 76,173,411	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,313,591		probably benign	Het
Prpf40b	A	G	15: 99,316,289	E810G	probably benign	Het
Ptprc	C	T	1: 138,073,610	V965I	probably benign	Het
Pum1	T	A	4: 130,728,104	M180K	probably benign	Het
Ranbp3	T	C	17: 56,702,896		probably benign	Het
Rasgrf2	A	G	13: 91,972,274	S787P	probably benign	Het
Rnf19b	T	A	4: 129,073,551	N294K	probably damaging	Het
Samd3	A	T	10: 26,244,495	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 33,880,031	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,125,080	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,129,641	F279Y	probably damaging	Het
Slc6a2	T	A	8: 92,992,801		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tab2	A	G	10: 7,919,801	S232P	probably benign	Het
Tacc2	A	T	7: 130,625,595	K1356*	probably null	Het
Tmem87a	A	G	2: 120,359,542	S544P	probably damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Usp38	A	T	8: 81,014,150	V96E	probably benign	Het
Vmn2r59	T	C	7: 42,058,884	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,464,137	V171G	probably damaging	Het
Zfp957	T	A	14: 79,212,920	I480F	probably damaging	Het

Other mutations in Fan1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01648:Fan1	APN	7	64372549	missense	probably damaging	0.96
IGL01752:Fan1	APN	7	64372794	missense	probably benign	0.00
IGL01971:Fan1	APN	7	64353711	missense	probably damaging	0.98
IGL02043:Fan1	APN	7	64371619	splice site	probably null
IGL02542:Fan1	APN	7	64364660	missense	probably damaging	1.00
IGL02731:Fan1	APN	7	64372993	missense	possibly damaging	0.86
IGL03111:Fan1	APN	7	64350068	missense	possibly damaging	0.67
hitched	UTSW	7	64364629	missense	probably damaging	1.00
stitched	UTSW	7	64372486	missense	probably damaging	0.97
R0270:Fan1	UTSW	7	64348871	missense	probably benign	0.26
R1714:Fan1	UTSW	7	64366687	missense	probably benign	0.29
R1750:Fan1	UTSW	7	64373013	missense	probably benign	0.14
R1822:Fan1	UTSW	7	64372806	missense	probably benign	0.00
R2031:Fan1	UTSW	7	64354424	missense	probably damaging	0.98
R2107:Fan1	UTSW	7	64366788	missense	probably damaging	1.00
R2126:Fan1	UTSW	7	64346888	missense	probably damaging	1.00
R2869:Fan1	UTSW	7	64363190	missense	probably benign	0.16
R2869:Fan1	UTSW	7	64363190	missense	probably benign	0.16
R2870:Fan1	UTSW	7	64363190	missense	probably benign	0.16
R2870:Fan1	UTSW	7	64363190	missense	probably benign	0.16
R2871:Fan1	UTSW	7	64363190	missense	probably benign	0.16
R2871:Fan1	UTSW	7	64363190	missense	probably benign	0.16
R2873:Fan1	UTSW	7	64363190	missense	probably benign	0.16
R3849:Fan1	UTSW	7	64372371	missense	probably damaging	1.00
R3850:Fan1	UTSW	7	64372371	missense	probably damaging	1.00
R3949:Fan1	UTSW	7	64371544	nonsense	probably null
R4007:Fan1	UTSW	7	64366561	missense	probably damaging	1.00
R4490:Fan1	UTSW	7	64369180	missense	possibly damaging	0.84
R4623:Fan1	UTSW	7	64373553	nonsense	probably null
R4918:Fan1	UTSW	7	64373538	utr 5 prime	probably benign
R5328:Fan1	UTSW	7	64354469	missense	probably damaging	1.00
R5691:Fan1	UTSW	7	64354370	splice site	probably null
R5902:Fan1	UTSW	7	64373322	splice site	probably null
R5905:Fan1	UTSW	7	64353651	missense	probably benign	0.00
R6126:Fan1	UTSW	7	64364570	nonsense	probably null
R6195:Fan1	UTSW	7	64354371	missense	probably damaging	1.00
R6233:Fan1	UTSW	7	64354371	missense	probably damaging	1.00
R6405:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R6434:Fan1	UTSW	7	64354381	missense	probably damaging	0.99
R6460:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R6469:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R6471:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R6473:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R6696:Fan1	UTSW	7	64350078	missense	probably damaging	1.00
R6708:Fan1	UTSW	7	64372806	missense	probably benign	0.00
R6713:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R6714:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R6749:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R6841:Fan1	UTSW	7	64364629	missense	probably damaging	1.00
R6858:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R6859:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R6860:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R6925:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R6927:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R6936:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R6938:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R6939:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R7040:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R7120:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R7290:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R7292:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R7459:Fan1	UTSW	7	64348966	missense	probably damaging	0.99
R7460:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R7464:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R7465:Fan1	UTSW	7	64353638	missense	probably benign	0.30
R7465:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R7608:Fan1	UTSW	7	64354231	splice site	probably null
R7624:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R7629:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R7682:Fan1	UTSW	7	64372764	missense	probably benign	0.06
R7731:Fan1	UTSW	7	64372696	missense	probably benign	0.17
R7863:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R8054:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R8055:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R8057:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R8058:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R8101:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R8241:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R8262:Fan1	UTSW	7	64373306	missense	probably benign	0.02
R8274:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R8275:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R8276:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R8285:Fan1	UTSW	7	64366600	missense	probably damaging	0.96
R8318:Fan1	UTSW	7	64350055	missense	probably damaging	1.00
R8402:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R8466:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R8468:Fan1	UTSW	7	64372486	missense	probably damaging	0.97
R8799:Fan1	UTSW	7	64366658	missense	probably damaging	0.99
R8821:Fan1	UTSW	7	64354501	missense	probably damaging	1.00
R9030:Fan1	UTSW	7	64373013	missense	probably benign	0.14
R9181:Fan1	UTSW	7	64366652	missense	probably damaging	0.98
R9525:Fan1	UTSW	7	64372259	critical splice donor site	probably null
R9564:Fan1	UTSW	7	64349492	missense	possibly damaging	0.65
R9565:Fan1	UTSW	7	64349492	missense	possibly damaging	0.65
R9796:Fan1	UTSW	7	64372530	missense	probably benign	0.09
X0025:Fan1	UTSW	7	64372835	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGGGTAACTGAGTCTCCCACCAAG -3'
(R):5'- GAAGGTAAAGTCACCGTTTGCTGC -3'

Sequencing Primer
(F):5'- AGCTCCGAGACCCAGGTAAG -3'
(R):5'- GATGAGGTTTAAATGCTGACCTCC -3'

Posted On

2013-07-11