Mutagenetix > Incidental Mutation

Incidental Mutation 'R7624:Fan1'

589320

Institutional Source

Beutler Lab

Gene Symbol

Fan1

Ensembl Gene

ENSMUSG00000033458

Gene Name

FANCD2/FANCI-associated nuclease 1

Synonyms

Mtmr15

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7624 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64346758-64374095 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64372486 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 340 (N340Y)

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 damaging
Transcript: ENSMUST00000163289
AA Change: N340Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130012
Gene: ENSMUSG00000033458
AA Change: N340Y

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: ENSMUST00000206047

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206778

Meta Mutation Damage Score

0.1011

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	C	A	9: 53,454,768	R2533L	probably damaging	Het
Caprin1	T	A	2: 103,772,677	M514L	possibly damaging	Het
Ccdc78	A	G	17: 25,787,152	E98G	probably damaging	Het
Cmya5	A	T	13: 93,090,357	M2741K	possibly damaging	Het
Cnot1	T	G	8: 95,751,819	R959S	probably damaging	Het
Col12a1	G	T	9: 79,645,794		probably null	Het
Col4a3	A	G	1: 82,718,884	T177A	probably benign	Het
Cpa3	T	C	3: 20,225,143	N211D	possibly damaging	Het
Cryba1	T	C	11: 77,722,717	Y36C	probably damaging	Het
Ctnna1	T	A	18: 35,244,844	I632N	probably benign	Het
D630045J12Rik	T	C	6: 38,149,563	N1504S	probably damaging	Het
Dgkz	C	A	2: 91,942,674	R346L	probably damaging	Het
Dnajc21	G	A	15: 10,461,232	R211C	probably benign	Het
Dnajc21	A	T	15: 10,461,234	I210N	probably damaging	Het
Dscam	T	C	16: 96,610,324	D1784G	probably damaging	Het
Eya3	A	G	4: 132,672,951	T94A	probably benign	Het
Fat3	T	C	9: 15,959,869	D3742G	possibly damaging	Het
Ficd	T	C	5: 113,738,690	F309L	probably benign	Het
Gfra1	A	T	19: 58,238,446	M451K	probably benign	Het
Gm43517	T	A	12: 49,391,178	L318Q		Het
Gsc	A	T	12: 104,473,051	V22E	possibly damaging	Het
Il4ra	T	C	7: 125,569,108	Y100H	probably damaging	Het
Ilf3	T	C	9: 21,398,044	S486P	probably benign	Het
Itga10	T	A	3: 96,652,953	H594Q	probably benign	Het
Kcnf1	T	C	12: 17,176,136	D28G	probably benign	Het
Kiss1	A	G	1: 133,329,422	K53R	possibly damaging	Het
Lcn5	A	G	2: 25,661,414	I182V	probably benign	Het
Lcorl	T	C	5: 45,701,965	D269G	probably benign	Het
Letm2	A	T	8: 25,592,537	C174*	probably null	Het
Met	T	G	6: 17,558,835	V1154G	probably damaging	Het
Mindy3	A	G	2: 12,419,189	S22P	probably benign	Het
Mroh2b	G	A	15: 4,917,131	R471Q	probably damaging	Het
Nfe2l3	T	C	6: 51,458,272	L604P	probably damaging	Het
Olfr1044	A	T	2: 86,171,220	I199N	possibly damaging	Het
Olfr1145	A	G	2: 87,810,339	Q173R	probably damaging	Het
Olfr186	T	A	16: 59,027,019	Q296L	possibly damaging	Het
Olfr294	A	G	7: 86,616,561	F28S	possibly damaging	Het
Olfr824	A	C	10: 130,126,586	I157S	probably damaging	Het
Olfr918	C	T	9: 38,672,623	V274I	probably benign	Het
Pcdha9	T	A	18: 36,999,796	Y639*	probably null	Het
Pom121l2	A	T	13: 21,983,529	I657L	probably damaging	Het
Prr14l	T	A	5: 32,829,623	T843S	possibly damaging	Het
Rln1	A	T	19: 29,332,099	N93K	probably damaging	Het
Rpl3l	A	T	17: 24,732,427	M101L	probably benign	Het
Rtkn	A	G	6: 83,152,177	Y551C	probably benign	Het
Rundc1	G	C	11: 101,433,479	R337P	possibly damaging	Het
Scarf1	T	A	11: 75,514,416		probably null	Het
Serpinb1b	T	A	13: 33,091,639		probably null	Het
Sgsm1	A	T	5: 113,274,335	C484*	probably null	Het
Slc22a19	T	A	19: 7,673,303	K547*	probably null	Het
Slc22a19	T	C	19: 7,693,818	T177A	probably benign	Het
Slc6a5	A	C	7: 49,941,866	K526N	probably benign	Het
Sqle	G	A	15: 59,330,754	R519Q	probably benign	Het
Stard9	T	C	2: 120,688,146	I517T	probably benign	Het
Taf15	A	T	11: 83,505,023	D518V	unknown	Het
Tdgf1	C	T	9: 110,945,949		probably benign	Het
Tenm4	A	G	7: 96,895,985	M2440V	possibly damaging	Het
Tm6sf1	A	G	7: 81,868,710	M122V	possibly damaging	Het
Tmprss9	T	A	10: 80,892,219	S548T	possibly damaging	Het
Trim62	A	T	4: 128,883,678		probably benign	Het
Ugt2b34	C	T	5: 86,891,282	V507M	possibly damaging	Het
Usp16	T	A	16: 87,476,805	M423K	probably benign	Het
Vmn1r199	T	A	13: 22,382,736	S67T	probably benign	Het
Vmn1r62	A	T	7: 5,675,601	M94L	probably benign	Het
Wnk4	G	T	11: 101,264,354	E364*	probably null	Het
Xpo1	T	A	11: 23,282,584	I368N	probably damaging	Het
Zfp366	A	G	13: 99,246,296	T656A	probably benign	Het
Zfp934	T	C	13: 62,518,524	M113V	probably benign	Het
Zkscan2	A	G	7: 123,498,771	V134A	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
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
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
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'- GGTGATAATCGCCTTCTCCTGC -3'
(R):5'- AAATCCTCTCCGGGAGACAC -3'

Sequencing Primer
(F):5'- TCATCGAAGAGCTTCATGTCC -3'
(R):5'- TCTCCGGGAGACACTCTTGTAAAG -3'

Posted On

2019-10-24