Mutagenetix > Incidental Mutation

Incidental Mutation 'R6546:Fnip1'

521212

Institutional Source

Beutler Lab

Gene Symbol

Fnip1

Ensembl Gene

ENSMUSG00000035992

Gene Name

folliculin interacting protein 1

Synonyms

A730024A03Rik

MMRRC Submission

045325-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.793) question?

Stock #

R6546 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54329025-54409061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 54393437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 600 (N600K)

Ref Sequence

ENSEMBL: ENSMUSP00000121399 (fasta)

Gene Model

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

AlphaFold

Q68FD7

Predicted Effect

probably benign
Transcript: ENSMUST00000046835
AA Change: N624K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
AA Change: N624K

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 benign
Transcript: ENSMUST00000143650
AA Change: N600K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992
AA Change: N600K

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

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (35/35)

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
Agbl3	T	A	6: 34,776,234 (GRCm39)	L242M	probably damaging	Het
Atad2b	A	T	12: 5,040,949 (GRCm39)	H206L	probably damaging	Het
Bmp2k	A	G	5: 97,235,937 (GRCm39)	Q1120R	probably benign	Het
Cdk18	G	A	1: 132,050,088 (GRCm39)	T29I	probably damaging	Het
Chrna3	T	A	9: 54,923,185 (GRCm39)	I208F	probably damaging	Het
Dhrs1	G	A	14: 55,978,729 (GRCm39)	P140S	possibly damaging	Het
Dnah14	C	T	1: 181,566,552 (GRCm39)	R2775C	probably damaging	Het
Garin5b	T	C	7: 4,761,464 (GRCm39)	D416G	probably benign	Het
Jmjd6	T	C	11: 116,733,326 (GRCm39)	Y117C	probably damaging	Het
Kbtbd4	T	A	2: 90,739,635 (GRCm39)	V340E	probably damaging	Het
Kif26b	T	C	1: 178,755,871 (GRCm39)	V1995A	probably damaging	Het
Krt10	T	C	11: 99,278,221 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,326,074 (GRCm39)	D3022G	probably benign	Het
Map3k13	C	T	16: 21,740,527 (GRCm39)	T618I	probably benign	Het
Mat1a	G	A	14: 40,843,379 (GRCm39)	V302M	probably damaging	Het
Med13l	T	C	5: 118,859,539 (GRCm39)	F242S	probably damaging	Het
Npffr2	A	T	5: 89,730,871 (GRCm39)	K267M	probably damaging	Het
Nup58	A	T	14: 60,460,672 (GRCm39)		probably null	Het
Papss2	A	G	19: 32,640,548 (GRCm39)	Y440C	possibly damaging	Het
Ppil4	T	A	10: 7,674,186 (GRCm39)	I110N	probably damaging	Het
Qrfpr	G	A	3: 36,234,414 (GRCm39)	T309I	probably damaging	Het
Rbl2	C	A	8: 91,796,998 (GRCm39)	S65R	probably benign	Het
Rchy1	G	A	5: 92,105,817 (GRCm39)	H44Y	probably damaging	Het
Slc19a3	T	C	1: 83,004,081 (GRCm39)	T7A	probably benign	Het
St7	C	T	6: 17,852,313 (GRCm39)	A233V	probably damaging	Het
Syn2	T	A	6: 115,258,059 (GRCm39)	S546T	probably benign	Het
Syne1	A	T	10: 5,168,645 (GRCm39)	Y5245*	probably null	Het
Trmt6	A	G	2: 132,654,073 (GRCm39)	W52R	probably benign	Het
Ubr4	G	A	4: 139,141,705 (GRCm39)	V1264M	probably damaging	Het
Ulk4	A	T	9: 120,970,960 (GRCm39)	V1004D	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r27	T	A	6: 124,169,369 (GRCm39)	H587L	possibly damaging	Het
Vmn2r79	A	G	7: 86,652,741 (GRCm39)	R478G	probably benign	Het
Zp2	T	C	7: 119,731,748 (GRCm39)	E669G	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
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
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'- TTATGCCAGGCACAGTGATTAC -3'
(R):5'- TCTGACAACACACATTTGTCGG -3'

Sequencing Primer
(F):5'- GGCACAGTGATTACTACCACTTTAG -3'
(R):5'- CAACACACATTTGTCGGCTGGAG -3'

Posted On

2018-06-06