Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Fan1'

253725

Institutional Source

Beutler Lab

Gene Symbol

Fan1

Ensembl Gene

ENSMUSG00000033458

Gene Name

FANCD2/FANCI-associated nuclease 1

Synonyms

Mtmr15

MMRRC Submission

040459-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64346758-64374095 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64363190 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 668 (I668T)

Ref Sequence

ENSEMBL: ENSMUSP00000130012 (fasta)

Gene Model

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

AlphaFold

Q69ZT1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107514
AA Change: I701T

Predicted Effect

probably benign
Transcript: ENSMUST00000163289
AA Change: I668T

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000130012
Gene: ENSMUSG00000033458
AA Change: I668T

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 benign
Transcript: ENSMUST00000177443
AA Change: I668T

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135335
Gene: ENSMUSG00000033458
AA Change: I668T

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

0.0942

Coding Region Coverage

1x: 99.5%
3x: 98.2%
10x: 92.4%
20x: 72.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,955,176	C811R	possibly damaging	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Akap8l	G	A	17: 32,338,442	T65I	possibly damaging	Het
Arid4a	T	A	12: 71,022,260		probably null	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
Cfap54	A	T	10: 92,921,419	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Ddrgk1	T	A	2: 130,664,644		probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eml5	C	T	12: 98,865,401	D433N	probably damaging	Het
Frmpd4	A	T	X: 167,477,247	D1166E	probably benign	Het
Gm813	A	T	16: 58,613,979	I125K	probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,357,929	Q127K	probably benign	Het
Hdhd2	T	C	18: 76,955,006	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmcn1	A	T	1: 150,738,716	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,588,498	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,434,813	R520S	probably benign	Het
Kif1c	A	G	11: 70,724,081	E567G	probably damaging	Het
Klf8	A	T	X: 153,382,682	E82D	probably damaging	Het
Kpna7	T	C	5: 144,993,935	T367A	probably benign	Het
Lpo	A	G	11: 87,816,524	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,452,723	I532V	probably benign	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mki67	G	A	7: 135,708,149	P191L	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678	P65L	possibly damaging	Het
Mroh2a	C	A	1: 88,255,565	L1292I	probably damaging	Het
Msh2	C	A	17: 87,685,584	Q314K	possibly damaging	Het
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,710,243	Q40*	probably null	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Notum	A	G	11: 120,660,196	V48A	probably benign	Het
Npas3	C	T	12: 54,068,013	R542*	probably null	Het
Olfr1101	A	T	2: 86,988,848	C109*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Olfr45	A	G	7: 140,691,285	I127V	possibly damaging	Het
Olfr71	C	A	4: 43,706,458	V37L	probably benign	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Parp1	A	G	1: 180,573,665	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Pkp4	C	A	2: 59,308,156	T250K	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Prdx4	A	G	X: 155,340,464	V15A	probably benign	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Psmd13	A	T	7: 140,887,055	T116S	probably damaging	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,210,405	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,899,569	I48M	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Sppl2c	C	T	11: 104,187,315	P314S	probably benign	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Tnni3k	C	T	3: 154,938,750		probably null	Het
Ugt1a1	AT	A	1: 88,212,371		probably null	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,559,019	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	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
R0632:Fan1	UTSW	7	64363199	missense	possibly damaging	0.50
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
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'- GTAACTGAGTCTCCCACCAAGC -3'
(R):5'- CTCTCCTAGCATCCTGAGACAG -3'

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

Posted On

2014-12-04