Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Fan1'

546993

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 #

R7040 (G1)

Quality Score

225.009

Status

Not 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: 99.7%
20x: 98.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 128,236,725	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,349,038	V312A	probably damaging	Het
Bmp2	A	G	2: 133,561,684	D385G	probably damaging	Het
C1qtnf9	T	C	14: 60,779,792	V257A	probably damaging	Het
Cd3d	G	A	9: 44,985,693	V122I	probably damaging	Het
Cdc37	T	C	9: 21,142,223	E199G	probably damaging	Het
Crb2	T	A	2: 37,787,684	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,330,337	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,820,759	D472A	probably damaging	Het
Dab2	A	C	15: 6,422,251	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,236,809	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,451,852	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,234,040	V521G	probably benign	Het
Fpr-rs6	A	G	17: 20,182,934	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362	S101G	probably damaging	Het
Kif15	T	A	9: 123,011,614	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lama4	A	G	10: 39,060,162	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,020,452	*123R	probably null	Het
Map4k3	A	C	17: 80,680,915	V36G	probably damaging	Het
Mme	T	A	3: 63,368,923	I707N	probably damaging	Het
Muc2	A	G	7: 141,751,457	E166G	unknown	Het
Mucl1	T	A	15: 103,753,578	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,359,744	D53V	possibly damaging	Het
Naa15	T	A	3: 51,472,784	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,287,855	T1487A	probably benign	Het
Nme8	A	T	13: 19,694,328	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,568,378	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,893,535	F291Y	possibly damaging	Het
Olfr1337	T	C	4: 118,781,986	M200V	probably benign	Het
Olfr1508	T	C	14: 52,463,475	D178G	possibly damaging	Het
Olfr556	A	T	7: 102,670,730	Q270L	probably benign	Het
Olfr668	A	T	7: 104,925,510	C85S	probably benign	Het
Ooep	T	C	9: 78,378,401	N43S	possibly damaging	Het
Ovch2	A	T	7: 107,796,565	I82N	probably damaging	Het
Palb2	A	T	7: 122,114,399	M524K	possibly damaging	Het
Patj	T	C	4: 98,441,080	S524P	probably benign	Het
Patl1	T	A	19: 11,929,954	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,504,717	T99S	probably benign	Het
Plcb4	G	A	2: 135,932,262	A155T	probably benign	Het
Rpap3	A	G	15: 97,679,112	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spen	T	A	4: 141,494,382	T302S	unknown	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Ube2o	T	C	11: 116,541,860	E760G	probably benign	Het
Uimc1	T	A	13: 55,075,454		probably null	Het
Usp16	C	T	16: 87,480,929	A689V	probably damaging	Het
Vmn2r60	G	A	7: 42,142,242	A530T	probably benign	Het
Vps8	T	A	16: 21,575,022	M1185K	probably damaging	Het
Vwa8	T	C	14: 78,912,205	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,834,462	N175S	probably benign	Het
Zfp160	A	T	17: 21,026,532	H448L	probably damaging	Het
Zfp90	T	A	8: 106,425,009	C451*	probably null	Het
Zfp945	A	G	17: 22,852,290	C212R	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
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'- TCGAAGAGCTTCATGTCCTC -3'
(R):5'- TCAACTCTCGTCAGTAACACG -3'

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

Posted On

2019-05-13