Mutagenetix > Incidental Mutation

Incidental Mutation 'R4007:Fan1'

311524

Institutional Source

Beutler Lab

Gene Symbol

Fan1

Ensembl Gene

ENSMUSG00000033458

Gene Name

FANCD2/FANCI-associated nuclease 1

Synonyms

Mtmr15, 6030441H18Rik

MMRRC Submission

041610-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63996506-64023843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64016309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 605 (L605P)

Ref Sequence

ENSEMBL: ENSMUSP00000130012 (fasta)

Gene Model

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

AlphaFold

Q69ZT1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107514
AA Change: L638P

Predicted Effect

probably damaging
Transcript: ENSMUST00000163289
AA Change: L605P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130012
Gene: ENSMUSG00000033458
AA Change: L605P

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 damaging
Transcript: ENSMUST00000177443
AA Change: L605P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135335
Gene: ENSMUSG00000033458
AA Change: L605P

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: ENSMUST00000206329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206778

Meta Mutation Damage Score

0.9157

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

98% (49/50)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,895,524 (GRCm39)		probably null	Het
Aff1	A	T	5: 103,932,088 (GRCm39)	K243N	probably benign	Het
Aknad1	T	C	3: 108,682,598 (GRCm39)	I558T	probably benign	Het
Ampd1	A	G	3: 102,999,776 (GRCm39)	I460V	probably damaging	Het
Atp10b	A	T	11: 43,150,679 (GRCm39)	H1459L	probably benign	Het
Card9	T	A	2: 26,243,012 (GRCm39)	R459W	possibly damaging	Het
Chd3	A	T	11: 69,239,827 (GRCm39)	I1667N	probably benign	Het
Col6a3	A	G	1: 90,730,291 (GRCm39)	S1672P	probably damaging	Het
Cul4a	A	G	8: 13,172,859 (GRCm39)	N164S	probably benign	Het
Dhx37	G	A	5: 125,501,995 (GRCm39)		probably benign	Het
Dnah1	T	C	14: 31,025,741 (GRCm39)		probably benign	Het
Elp1	G	A	4: 56,794,139 (GRCm39)	T168I	probably damaging	Het
Erbb4	C	A	1: 68,779,560 (GRCm39)	R72L	probably damaging	Het
F11r	A	G	1: 171,288,916 (GRCm39)	K178R	probably benign	Het
Fcna	A	G	2: 25,516,018 (GRCm39)		probably null	Het
Filip1	A	G	9: 79,726,009 (GRCm39)	I870T	possibly damaging	Het
Gm11595	C	T	11: 99,662,861 (GRCm39)	C273Y	unknown	Het
Gml	T	A	15: 74,685,548 (GRCm39)	I146L	possibly damaging	Het
Gprc5b	G	A	7: 118,583,437 (GRCm39)	A144V	possibly damaging	Het
Htr2a	A	T	14: 74,879,581 (GRCm39)	H70L	probably benign	Het
Ifitm6	T	A	7: 140,596,627 (GRCm39)	I69F	possibly damaging	Het
Iqsec3	A	G	6: 121,353,187 (GRCm39)	S1144P	probably damaging	Het
Kazn	T	C	4: 141,834,203 (GRCm39)	T618A	unknown	Het
Mrps5	C	A	2: 127,433,755 (GRCm39)	T48K	possibly damaging	Het
Mst1	A	G	9: 107,960,147 (GRCm39)	E377G	possibly damaging	Het
Nup188	G	A	2: 30,199,890 (GRCm39)	D305N	probably damaging	Het
Opn4	A	T	14: 34,321,789 (GRCm39)	S43T	probably benign	Het
Or8k35	T	C	2: 86,424,908 (GRCm39)	D88G	probably benign	Het
Plcb2	T	C	2: 118,541,274 (GRCm39)	E1021G	probably damaging	Het
Pramex1	A	T	X: 134,514,374 (GRCm39)	L305Q	probably damaging	Het
Rbsn	T	A	6: 92,166,800 (GRCm39)	T615S	probably benign	Het
Reg1	A	G	6: 78,404,013 (GRCm39)	D60G	probably null	Het
Ros1	A	T	10: 51,994,328 (GRCm39)	D1317E	probably damaging	Het
Rpap2	A	G	5: 107,751,738 (GRCm39)	I129V	probably damaging	Het
Rubcnl	G	T	14: 75,287,143 (GRCm39)	V604L	possibly damaging	Het
Slc26a4	T	A	12: 31,590,532 (GRCm39)	K374*	probably null	Het
Slc4a4	T	A	5: 89,362,452 (GRCm39)	S854R	probably damaging	Het
Sv2c	A	G	13: 96,123,341 (GRCm39)		probably benign	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tnik	A	G	3: 28,658,430 (GRCm39)	S572G	probably damaging	Het
Trbv13-3	T	C	6: 41,107,120 (GRCm39)	C14R	probably benign	Het
Ttc7	G	A	17: 87,597,679 (GRCm39)	D84N	possibly damaging	Het
Ubtd1	G	T	19: 42,020,555 (GRCm39)	G100*	probably null	Het
Vmn2r18	A	T	5: 151,508,711 (GRCm39)	W138R	probably damaging	Het
Zan	T	C	5: 137,462,201 (GRCm39)	T993A	unknown	Het
Zfp385b	C	T	2: 77,549,836 (GRCm39)	G83D	probably benign	Het
Zfp493	A	G	13: 67,932,038 (GRCm39)		probably benign	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
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
R7460:Fan1	UTSW	7	64,022,234 (GRCm39)	missense	probably damaging	0.97
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'- ATTTCCACACTGGCAGGCAG -3'
(R):5'- GTGTTTGCCCGAATCTTGC -3'

Sequencing Primer
(F):5'- CAGGAGACAATAGTAAGACCGTTTC -3'
(R):5'- GAATCTTGCTTCTGTTCTCATTGAC -3'

Posted On

2015-04-29