Mutagenetix > Incidental Mutation

Incidental Mutation 'R8275:Fan1'

637941

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 #

R8275 (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: 98.6%

Validation Efficiency

100% (39/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap2	T	C	4: 57,886,329		probably null	Het
Alx1	T	C	10: 103,028,389	D73G	probably benign	Het
Asah1	G	A	8: 41,348,122	H156Y	probably damaging	Het
Cgn	G	A	3: 94,774,953	L439F	possibly damaging	Het
Creb1	C	A	1: 64,558,528	T7K	probably benign	Het
Cyp2c54	T	A	19: 40,038,305	I469L	probably benign	Het
Cyp2s1	T	A	7: 25,809,310	T236S	probably benign	Het
Duox1	T	C	2: 122,344,768	I1349T	probably benign	Het
Efhd2	C	T	4: 141,874,762	A36T	probably benign	Het
Espl1	G	A	15: 102,302,753		probably benign	Het
Fat3	T	A	9: 16,246,750	Q1188L	probably damaging	Het
Flt1	A	T	5: 147,678,147	Y330N	probably damaging	Het
Golga4	A	T	9: 118,532,559	S202C	probably damaging	Het
Htr2b	C	T	1: 86,102,572	D134N	probably damaging	Het
Katna1	T	A	10: 7,752,810	C268S	probably damaging	Het
Lama4	T	C	10: 39,072,811	Y857H	probably damaging	Het
Lyst	T	C	13: 13,776,082	I3741T	probably benign	Het
Mcm4	T	C	16: 15,634,571	I233V	probably damaging	Het
Mettl22	T	C	16: 8,485,928	V286A	possibly damaging	Het
Nav3	C	A	10: 109,692,123	G1503V	noncoding transcript	Het
Obox1	T	A	7: 15,556,228	N165K	probably damaging	Het
Olfr744	T	A	14: 50,618,411	M63K	probably damaging	Het
Oxa1l	T	A	14: 54,363,301	I77N	possibly damaging	Het
Papss2	T	C	19: 32,638,360	L164P	probably damaging	Het
Pikfyve	T	A	1: 65,253,342		probably benign	Het
Polr2a	G	A	11: 69,748,056	R51C	probably damaging	Het
Rsph10b	C	G	5: 143,966,505	T606S	possibly damaging	Het
Siglecg	T	C	7: 43,412,468	V546A	probably benign	Het
Slc22a29	T	C	19: 8,169,317	S374G	probably benign	Het
Tia1	C	T	6: 86,427,736	Q318*	probably null	Het
Trpm2	T	A	10: 77,966,025	K69*	probably null	Het
Unc80	C	T	1: 66,640,614	R2115*	probably null	Het
Usp35	A	G	7: 97,314,819	S436P	probably damaging	Het
Vmn1r220	A	T	13: 23,184,313	L71*	probably null	Het
Vmn2r15	A	T	5: 109,286,284	D851E	probably benign	Het
Vps33a	A	T	5: 123,569,459	D148E	probably damaging	Het
Zfp729a	G	A	13: 67,620,104	H669Y	probably benign	Het
Zfp804b	C	T	5: 6,772,289	R258Q	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
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
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'- CTTCTCCTGCTCATCGAAGAG -3'
(R):5'- AGTAACACGAAATCCTCTCCGG -3'

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

Posted On

2020-07-28