Mutagenetix > Incidental Mutation

Incidental Mutation 'R4017:Fnip1'

311995

Institutional Source

Beutler Lab

Gene Symbol

Fnip1

Ensembl Gene

ENSMUSG00000035992

Gene Name

folliculin interacting protein 1

Synonyms

A730024A03Rik

MMRRC Submission

041611-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.793) question?

Stock #

R4017 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54329025-54409061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54400813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1071 (K1071E)

Ref Sequence

ENSEMBL: ENSMUSP00000049026 (fasta)

Gene Model

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

AlphaFold

Q68FD7

Predicted Effect

probably benign
Transcript: ENSMUST00000046835
AA Change: K1071E

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
AA Change: K1071E

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

Meta Mutation Damage Score

0.1880

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

97% (36/37)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	G	T	19: 4,917,574 (GRCm39)	T423N	possibly damaging	Het
Apold1	A	G	6: 134,960,869 (GRCm39)	I108V	probably benign	Het
Arhgap21	G	T	2: 20,896,915 (GRCm39)	F121L	probably benign	Het
BC004004	T	C	17: 29,517,706 (GRCm39)	S307P	probably damaging	Het
Cpeb4	A	G	11: 31,874,671 (GRCm39)	D484G	probably damaging	Het
Dctpp1	G	A	7: 126,856,285 (GRCm39)	R146C	probably damaging	Het
Dnm2	A	G	9: 21,405,900 (GRCm39)	Y553C	probably damaging	Het
Dync1h1	G	T	12: 110,609,624 (GRCm39)	R2802I	probably damaging	Het
Eif2a	T	A	3: 58,452,776 (GRCm39)	M209K	probably damaging	Het
Epb41	A	T	4: 131,709,756 (GRCm39)		probably benign	Het
Igf2bp2	T	C	16: 21,882,426 (GRCm39)	N425S	probably damaging	Het
Kdm5a	T	A	6: 120,371,067 (GRCm39)	Y504N	probably damaging	Het
Kif1a	T	C	1: 93,004,014 (GRCm39)	D156G	probably damaging	Het
Klhl10	G	A	11: 100,336,500 (GRCm39)	M162I	probably benign	Het
Lrp1b	A	G	2: 40,692,996 (GRCm39)	F3401L	possibly damaging	Het
Lrp6	G	T	6: 134,497,513 (GRCm39)	R165S	probably damaging	Het
Muc5b	G	A	7: 141,417,367 (GRCm39)	V3438M	probably benign	Het
Myo3a	A	G	2: 22,468,182 (GRCm39)	R479G	possibly damaging	Het
Npr1	T	C	3: 90,363,539 (GRCm39)	E828G	probably damaging	Het
Obscn	A	G	11: 59,023,448 (GRCm39)	F643S	probably damaging	Het
Or11h23	A	T	14: 50,948,333 (GRCm39)	D182V	probably benign	Het
Or12e1	A	G	2: 87,022,846 (GRCm39)	S272G	probably benign	Het
Pcdhga8	T	C	18: 37,948,791 (GRCm39)	V69A	probably damaging	Het
Ppp6r1	C	A	7: 4,636,743 (GRCm39)	C688F	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rnf157	A	T	11: 116,250,067 (GRCm39)		probably null	Het
Saxo1	A	T	4: 86,476,233 (GRCm39)	I7N	possibly damaging	Het
Scn7a	A	T	2: 66,572,329 (GRCm39)	I214N	probably damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Suz12	G	T	11: 79,904,292 (GRCm39)	V211F	probably damaging	Het
Trim9	G	A	12: 70,393,126 (GRCm39)	H273Y	probably damaging	Het
Uggt2	T	C	14: 119,263,845 (GRCm39)	N1062D	possibly damaging	Het
Wdr70	A	T	15: 8,108,698 (GRCm39)	C149*	probably null	Het
Zfp940	T	C	7: 29,545,359 (GRCm39)	I183V	probably benign	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
IGL02639:Fnip1	APN	11	54,366,466 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGGCATACGGGTTTGTGA -3'
(R):5'- AGCTAGTAAGACTATTTAGTGTGTGCA -3'

Sequencing Primer
(F):5'- TGTGAGTGGTTGATCAAAAAGATTAG -3'
(R):5'- GTGTGTGCACATATTTAGCCAAG -3'

Posted On

2015-04-29