Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02639:Fnip1'

301660

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fnip1

Ensembl Gene

ENSMUSG00000035992

Gene Name

folliculin interacting protein 1

Synonyms

A730024A03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.793) question?

Stock #

IGL02639

Quality Score

Status

Chromosome

Chromosomal Location

54329025-54409061 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 54366466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 52 (C52*)

Ref Sequence

ENSEMBL: ENSMUSP00000121399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046835] [ENSMUST00000143650]

AlphaFold

Q68FD7

Predicted Effect

probably null
Transcript: ENSMUST00000046835
AA Change: C76*

SMART Domains

Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
AA Change: C76*

Domain	Start	End	E-Value	Type
Pfam:FNIP_N	41	159	1.7e-29	PFAM
Pfam:FNIP_M	316	549	9.9e-92	PFAM
Pfam:FNIP_C	975	1161	7.6e-73	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000143650
AA Change: C52*

SMART Domains

Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992
AA Change: C52*

Domain	Start	End	E-Value	Type
Pfam:FNIP_N	17	139	3.9e-36	PFAM
Pfam:FNIP_M	288	526	5.1e-87	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the folliculin-interacting protein family. The encoded protein binds to the tumor suppressor folliculin and to AMP-activated protein kinase (AMPK) and be involved in cellular metabolism and nutrient sensing by regulating the AMPK-mechanistic target of rapamycin signaling pathway. A homologous binding partner of this protein, folliculin-interacting protein 2, has similar binding activities and may suggest functional redundancy within this protein family. Both folliculin-interacting proteins have also been shown to bind the molecular chaperone heat shock protein-90 (Hsp90) and they may function as a co-chaperones in the stabilization of tumor suppressor folliculin which is a target of Hsp90 chaperone activity. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for an ENU-induced or targeted allele exhibit arrested B cell development at the pre-B cell stage with increased B cell apoptosis. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(1) Gene trapped(2)

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,430,048 (GRCm39)	R71*	probably null	Het
Abca5	A	T	11: 110,178,899 (GRCm39)	I1140N	possibly damaging	Het
Atp6v0a1	T	A	11: 100,946,344 (GRCm39)	I773N	possibly damaging	Het
Atp9a	A	G	2: 168,491,540 (GRCm39)	M675T	probably damaging	Het
Baz1a	A	G	12: 54,942,810 (GRCm39)		probably benign	Het
Cd5l	T	C	3: 87,275,813 (GRCm39)	V261A	probably damaging	Het
Copb1	A	G	7: 113,825,830 (GRCm39)		probably benign	Het
Cul5	T	C	9: 53,566,642 (GRCm39)	D130G	possibly damaging	Het
Cyp2j5	T	A	4: 96,546,986 (GRCm39)	Q176L	probably benign	Het
Ddo	A	G	10: 40,523,733 (GRCm39)	D241G	probably damaging	Het
Defa29	A	G	8: 21,816,137 (GRCm39)	C77R	possibly damaging	Het
Dpp4	T	C	2: 62,182,584 (GRCm39)	N566D	probably benign	Het
Eif1ad14	G	T	12: 87,886,269 (GRCm39)	T120K	probably benign	Het
Emilin2	T	C	17: 71,581,544 (GRCm39)	D394G	probably benign	Het
Fbf1	T	C	11: 116,043,426 (GRCm39)	E461G	probably benign	Het
Fgfr2	A	G	7: 129,830,532 (GRCm39)		probably benign	Het
Fibcd1	G	A	2: 31,707,162 (GRCm39)	T365M	probably damaging	Het
Fndc3a	A	C	14: 72,811,797 (GRCm39)	H344Q	probably benign	Het
Fto	T	A	8: 92,136,156 (GRCm39)	N143K	probably damaging	Het
Hells	G	T	19: 38,926,873 (GRCm39)	L84F	probably damaging	Het
Hydin	G	A	8: 111,265,081 (GRCm39)	V2755I	probably benign	Het
Irgq	C	A	7: 24,230,887 (GRCm39)	A26E	probably damaging	Het
Katnip	A	G	7: 125,471,964 (GRCm39)	I1518V	probably damaging	Het
Klhl29	A	T	12: 5,187,453 (GRCm39)	Y304N	probably damaging	Het
Muc6	T	C	7: 141,235,843 (GRCm39)		probably benign	Het
Myo15a	T	C	11: 60,369,447 (GRCm39)	F736L	probably benign	Het
Nynrin	G	T	14: 56,108,112 (GRCm39)	W1073L	probably damaging	Het
Or10h28	G	A	17: 33,488,369 (GRCm39)	V224M	possibly damaging	Het
Or10w1	A	T	19: 13,631,960 (GRCm39)	T51S	possibly damaging	Het
Or14c46	A	T	7: 85,918,928 (GRCm39)	I23N	probably damaging	Het
Or14j10	A	T	17: 37,934,878 (GRCm39)	I216N	probably benign	Het
Or1e29	A	T	11: 73,667,371 (GRCm39)	C261S	probably benign	Het
Or51a10	C	A	7: 103,698,988 (GRCm39)	C191F	probably damaging	Het
Or52e8b	T	A	7: 104,673,429 (GRCm39)	I253F	probably damaging	Het
Pdzd2	T	A	15: 12,592,329 (GRCm39)	K105M	probably damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pola2	A	G	19: 6,003,802 (GRCm39)	V191A	probably benign	Het
Slc22a8	A	T	19: 8,571,323 (GRCm39)	Y18F	probably benign	Het
Slc26a5	C	T	5: 22,024,765 (GRCm39)	V440M	probably damaging	Het

Other mutations in Fnip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Fnip1	APN	11	54,390,334 (GRCm39)	missense	probably damaging	1.00
IGL01590:Fnip1	APN	11	54,384,126 (GRCm39)	missense	probably damaging	1.00
IGL01959:Fnip1	APN	11	54,381,738 (GRCm39)	missense	possibly damaging	0.95
IGL02157:Fnip1	APN	11	54,378,589 (GRCm39)	missense	probably damaging	1.00
IGL02197:Fnip1	APN	11	54,384,200 (GRCm39)	missense	probably damaging	1.00
IGL02476:Fnip1	APN	11	54,390,393 (GRCm39)	splice site	probably benign
IGL02742:Fnip1	APN	11	54,384,177 (GRCm39)	missense	probably damaging	1.00
hamel	UTSW	11	54,371,511 (GRCm39)	critical splice donor site	probably benign
hamel2	UTSW	11	54,393,097 (GRCm39)	missense	probably damaging	1.00
Normandy	UTSW	11	54,384,007 (GRCm39)	splice site	probably benign
H8562:Fnip1	UTSW	11	54,371,123 (GRCm39)	missense	probably damaging	0.98
P0043:Fnip1	UTSW	11	54,394,051 (GRCm39)	missense	probably benign	0.00
R0114:Fnip1	UTSW	11	54,378,627 (GRCm39)	splice site	probably benign
R0278:Fnip1	UTSW	11	54,380,169 (GRCm39)	splice site	probably null
R0409:Fnip1	UTSW	11	54,371,180 (GRCm39)	splice site	probably null
R0840:Fnip1	UTSW	11	54,384,007 (GRCm39)	splice site	probably benign
R1131:Fnip1	UTSW	11	54,384,129 (GRCm39)	missense	possibly damaging	0.82
R1205:Fnip1	UTSW	11	54,393,132 (GRCm39)	missense	possibly damaging	0.91
R1271:Fnip1	UTSW	11	54,394,123 (GRCm39)	missense	probably benign
R1817:Fnip1	UTSW	11	54,393,279 (GRCm39)	missense	probably benign	0.30
R1826:Fnip1	UTSW	11	54,356,990 (GRCm39)	missense	probably damaging	1.00
R1872:Fnip1	UTSW	11	54,378,561 (GRCm39)	missense	probably damaging	1.00
R1883:Fnip1	UTSW	11	54,406,373 (GRCm39)	missense	probably damaging	1.00
R1917:Fnip1	UTSW	11	54,371,510 (GRCm39)	missense	probably damaging	0.99
R1918:Fnip1	UTSW	11	54,371,510 (GRCm39)	missense	probably damaging	0.99
R1919:Fnip1	UTSW	11	54,371,510 (GRCm39)	missense	probably damaging	0.99
R2010:Fnip1	UTSW	11	54,373,329 (GRCm39)	missense	probably damaging	1.00
R2117:Fnip1	UTSW	11	54,391,450 (GRCm39)	missense	probably damaging	1.00
R2329:Fnip1	UTSW	11	54,356,933 (GRCm39)	missense	probably damaging	0.98
R2337:Fnip1	UTSW	11	54,366,563 (GRCm39)	missense	probably damaging	0.98
R2850:Fnip1	UTSW	11	54,393,503 (GRCm39)	missense	probably benign	0.32
R2863:Fnip1	UTSW	11	54,393,250 (GRCm39)	missense	probably damaging	1.00
R2864:Fnip1	UTSW	11	54,393,250 (GRCm39)	missense	probably damaging	1.00
R2865:Fnip1	UTSW	11	54,393,250 (GRCm39)	missense	probably damaging	1.00
R3936:Fnip1	UTSW	11	54,371,065 (GRCm39)	splice site	probably null
R4017:Fnip1	UTSW	11	54,400,813 (GRCm39)	missense	probably benign	0.14
R4033:Fnip1	UTSW	11	54,393,297 (GRCm39)	missense	probably benign	0.02
R4668:Fnip1	UTSW	11	54,394,385 (GRCm39)	missense	probably damaging	1.00
R4695:Fnip1	UTSW	11	54,390,245 (GRCm39)	missense	probably damaging	1.00
R4762:Fnip1	UTSW	11	54,390,352 (GRCm39)	missense	probably benign	0.01
R4762:Fnip1	UTSW	11	54,356,997 (GRCm39)	missense	probably damaging	1.00
R4777:Fnip1	UTSW	11	54,391,382 (GRCm39)	missense	probably damaging	1.00
R4863:Fnip1	UTSW	11	54,406,382 (GRCm39)	missense	possibly damaging	0.52
R5369:Fnip1	UTSW	11	54,393,415 (GRCm39)	missense	probably benign
R5481:Fnip1	UTSW	11	54,393,470 (GRCm39)	missense	probably benign	0.01
R5562:Fnip1	UTSW	11	54,380,168 (GRCm39)	critical splice donor site	probably null
R5563:Fnip1	UTSW	11	54,395,688 (GRCm39)	missense	probably benign	0.05
R5628:Fnip1	UTSW	11	54,394,459 (GRCm39)	missense	probably benign	0.08
R5689:Fnip1	UTSW	11	54,393,115 (GRCm39)	missense	probably damaging	1.00
R6009:Fnip1	UTSW	11	54,393,097 (GRCm39)	missense	probably damaging	1.00
R6120:Fnip1	UTSW	11	54,400,826 (GRCm39)	missense	probably benign	0.23
R6429:Fnip1	UTSW	11	54,406,393 (GRCm39)	missense	probably damaging	1.00
R6546:Fnip1	UTSW	11	54,393,437 (GRCm39)	missense	probably benign	0.03
R6600:Fnip1	UTSW	11	54,393,925 (GRCm39)	missense	probably benign
R6882:Fnip1	UTSW	11	54,400,724 (GRCm39)	missense	probably damaging	1.00
R6966:Fnip1	UTSW	11	54,373,385 (GRCm39)	missense	probably benign	0.00
R7009:Fnip1	UTSW	11	54,393,761 (GRCm39)	missense	probably damaging	1.00
R7664:Fnip1	UTSW	11	54,356,951 (GRCm39)	missense	probably damaging	1.00
R7706:Fnip1	UTSW	11	54,406,325 (GRCm39)	missense	probably benign	0.41
R7866:Fnip1	UTSW	11	54,356,228 (GRCm39)	start gained	probably benign
R7939:Fnip1	UTSW	11	54,393,093 (GRCm39)	missense	probably damaging	1.00
R7943:Fnip1	UTSW	11	54,393,214 (GRCm39)	missense	probably damaging	1.00
R8429:Fnip1	UTSW	11	54,366,522 (GRCm39)	missense	possibly damaging	0.94
R8546:Fnip1	UTSW	11	54,400,826 (GRCm39)	missense	probably benign	0.23
R8753:Fnip1	UTSW	11	54,400,867 (GRCm39)	missense	probably damaging	0.99
R8834:Fnip1	UTSW	11	54,395,581 (GRCm39)	missense	possibly damaging	0.83
R8875:Fnip1	UTSW	11	54,406,380 (GRCm39)	missense	probably damaging	1.00
R9605:Fnip1	UTSW	11	54,381,713 (GRCm39)	missense	probably benign	0.02
R9735:Fnip1	UTSW	11	54,394,273 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16