Mutagenetix > Incidental Mutation

Incidental Mutation 'R7460:Fan1'

578384

Institutional Source

Beutler Lab

Gene Symbol

Fan1

Ensembl Gene

ENSMUSG00000033458

Gene Name

FANCD2/FANCI-associated nuclease 1

Synonyms

Mtmr15, 6030441H18Rik

MMRRC Submission

045534-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7460 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63996506-64023843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64022234 bp (GRCm39)

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	T	A	1: 60,473,466 (GRCm39)	V61D	probably damaging	Het
Agrn	C	A	4: 156,258,881 (GRCm39)	V915L	probably damaging	Het
Arhgap24	T	C	5: 103,040,212 (GRCm39)	V476A	probably benign	Het
Arhgef15	A	G	11: 68,837,861 (GRCm39)	L720P	probably damaging	Het
Atad2b	C	A	12: 5,002,660 (GRCm39)	R343S	probably benign	Het
Atxn3	T	A	12: 101,892,776 (GRCm39)	T313S	probably benign	Het
BC051665	T	C	13: 60,932,457 (GRCm39)	E76G	probably benign	Het
Birc2	A	T	9: 7,818,762 (GRCm39)	F610I	probably damaging	Het
Cdh16	A	T	8: 105,348,923 (GRCm39)	V58D	possibly damaging	Het
Cenpf	T	C	1: 189,386,247 (GRCm39)	D2011G	probably damaging	Het
Ddb1	T	C	19: 10,585,275 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,281,440 (GRCm39)		probably null	Het
Disp2	A	G	2: 118,620,261 (GRCm39)	H331R	probably damaging	Het
Dmxl1	A	G	18: 50,011,679 (GRCm39)	T1279A	probably benign	Het
Dync1i2	T	C	2: 71,081,230 (GRCm39)	I473T	probably damaging	Het
Fam114a1	T	G	5: 65,196,050 (GRCm39)	V520G	possibly damaging	Het
Fat2	T	A	11: 55,169,789 (GRCm39)	D2990V	probably damaging	Het
Fbh1	C	T	2: 11,761,496 (GRCm39)	G597D	probably benign	Het
Fdxr	A	C	11: 115,167,680 (GRCm39)	S12A	probably benign	Het
Fgf14	T	A	14: 124,914,105 (GRCm39)	R9W	possibly damaging	Het
Gnat3	A	T	5: 18,204,656 (GRCm39)	D103V		Het
Hepacam2	G	A	6: 3,487,199 (GRCm39)	P53S	probably benign	Het
Inhca	T	C	9: 103,131,847 (GRCm39)	N625D	probably benign	Het
Jmjd1c	A	G	10: 67,052,815 (GRCm39)	T21A	probably benign	Het
Lama1	T	C	17: 68,074,013 (GRCm39)	C930R		Het
Lrp1b	T	C	2: 40,488,478 (GRCm39)	T4536A		Het
Lrrc27	T	A	7: 138,803,574 (GRCm39)	V166E	probably damaging	Het
Mapk10	C	T	5: 103,186,443 (GRCm39)	V90I	probably benign	Het
Mfsd14b	C	T	13: 65,219,837 (GRCm39)	G339D	probably damaging	Het
Mnt	T	A	11: 74,734,109 (GRCm39)	M580K	unknown	Het
Mrc1	T	C	2: 14,253,680 (GRCm39)	S234P	probably damaging	Het
Mrps5	G	A	2: 127,433,811 (GRCm39)	V75I	not run	Het
Mrtfb	G	T	16: 13,218,840 (GRCm39)	Q495H	probably benign	Het
Myo10	A	G	15: 25,807,913 (GRCm39)	D1845G	probably damaging	Het
Or3a1c	A	T	11: 74,046,672 (GRCm39)	I231F	probably damaging	Het
Or51a25	A	T	7: 102,373,028 (GRCm39)	M223K	probably benign	Het
Or7a40	C	A	16: 16,491,030 (GRCm39)	A272S	possibly damaging	Het
Or8b3	T	C	9: 38,314,649 (GRCm39)	S160P	possibly damaging	Het
Pdhx	G	A	2: 102,877,124 (GRCm39)	T95M	probably damaging	Het
Pigb	C	T	9: 72,945,957 (GRCm39)	V72I	probably damaging	Het
Prr7	C	A	13: 55,620,166 (GRCm39)	P110Q	unknown	Het
Psg22	A	G	7: 18,458,329 (GRCm39)	D340G	probably benign	Het
Ptprn2	T	C	12: 117,212,301 (GRCm39)	S908P	probably benign	Het
Ros1	T	C	10: 51,994,299 (GRCm39)	Y1348C	probably damaging	Het
Rspry1	T	C	8: 95,376,963 (GRCm39)	I506T	probably benign	Het
Ryr2	T	A	13: 11,720,596 (GRCm39)	Y2684F	probably benign	Het
Sdr16c6	A	G	4: 4,076,575 (GRCm39)		probably null	Het
Senp7	A	G	16: 55,993,545 (GRCm39)	T743A	possibly damaging	Het
Slc6a20b	T	C	9: 123,434,014 (GRCm39)	I275V	probably benign	Het
Slc6a7	A	G	18: 61,134,674 (GRCm39)	I467T	probably benign	Het
Tacc2	A	G	7: 130,226,363 (GRCm39)	D1016G	probably benign	Het
Thsd7a	A	G	6: 12,554,933 (GRCm39)	V317A		Het
Tle3	A	G	9: 61,320,366 (GRCm39)	H598R	probably damaging	Het
Tmem102	A	G	11: 69,694,949 (GRCm39)	L341P	probably damaging	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Trappc14	G	A	5: 138,260,991 (GRCm39)	T218M	probably benign	Het
Trhde	T	A	10: 114,249,168 (GRCm39)	D866V	probably damaging	Het
Ttn	A	G	2: 76,581,617 (GRCm39)	I23092T	probably damaging	Het
U2surp	C	A	9: 95,344,877 (GRCm39)	V944L	unknown	Het
Urgcp	T	C	11: 5,666,622 (GRCm39)	H615R	possibly damaging	Het
Vps45	T	A	3: 95,955,699 (GRCm39)	Y97F	probably benign	Het
Zc3h12c	T	C	9: 52,055,402 (GRCm39)	T136A	probably benign	Het
Zfp948	A	T	17: 21,808,677 (GRCm39)	H623L	probably damaging	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
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
R7608:Fan1	UTSW	7	64,003,979 (GRCm39)	splice site	probably null
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'- CTTCTCCTGCTCATCGAAGAG -3'
(R):5'- GTAACACGAAATCCTCTCCGG -3'

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

Posted On

2019-10-07