Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02157:Fnip1'

282264

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: 0.790) question?

Stock #

IGL02157

Quality Score

Status

Chromosome

Chromosomal Location

54329025-54409061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54378589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 225 (L225P)

Ref Sequence

ENSEMBL: ENSMUSP00000049026 (fasta)

Gene Model

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

AlphaFold

Q68FD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000046835
AA Change: L225P

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

SMART Domains

Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
AA Change: L225P

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 damaging
Transcript: ENSMUST00000143650
AA Change: L201P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992
AA Change: L201P

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,855,487 (GRCm39)		probably benign	Het
Amotl1	A	T	9: 14,483,011 (GRCm39)		probably benign	Het
Amph	A	T	13: 19,288,401 (GRCm39)	T297S	possibly damaging	Het
Arhgap31	A	G	16: 38,444,263 (GRCm39)	V198A	probably damaging	Het
Bop1	T	C	15: 76,339,772 (GRCm39)	D216G	possibly damaging	Het
Cdh13	T	C	8: 119,232,410 (GRCm39)	I38T	possibly damaging	Het
Clmn	T	C	12: 104,748,177 (GRCm39)	T457A	probably benign	Het
Clstn2	A	C	9: 97,423,928 (GRCm39)	M279R	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Fam83h	A	T	15: 75,876,904 (GRCm39)	V208E	probably damaging	Het
Fer	A	G	17: 64,445,894 (GRCm39)	N785S	probably benign	Het
Gbp11	C	T	5: 105,475,374 (GRCm39)	V325M	possibly damaging	Het
Glis1	A	G	4: 107,484,758 (GRCm39)	T418A	probably benign	Het
Hook2	C	T	8: 85,727,779 (GRCm39)		probably benign	Het
Hoxa6	C	A	6: 52,185,171 (GRCm39)	C145F	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mbd5	T	C	2: 49,168,987 (GRCm39)	V1156A	probably benign	Het
Mon2	G	A	10: 122,849,377 (GRCm39)	P1308S	probably damaging	Het
Mta2	T	A	19: 8,924,613 (GRCm39)		probably benign	Het
Nup188	T	A	2: 30,219,385 (GRCm39)	L867*	probably null	Het
Oca2	G	A	7: 55,974,545 (GRCm39)		probably null	Het
Or13a22	T	A	7: 140,072,847 (GRCm39)	C99S	probably damaging	Het
Or6c88	A	G	10: 129,407,019 (GRCm39)	E165G	probably damaging	Het
Or7e166	T	A	9: 19,624,585 (GRCm39)	V154E	probably benign	Het
Plekhh2	A	G	17: 84,874,370 (GRCm39)		probably benign	Het
Pramel22	A	T	4: 143,380,947 (GRCm39)	C359S	probably damaging	Het
Rhbdd3	T	C	11: 5,055,424 (GRCm39)		probably benign	Het
Timeless	T	A	10: 128,078,255 (GRCm39)	V255E	probably benign	Het
Tmt1b	T	G	10: 128,796,486 (GRCm39)	T108P	possibly damaging	Het
Trh	A	T	6: 92,219,948 (GRCm39)	S123T	probably benign	Het
Ugdh	C	T	5: 65,580,035 (GRCm39)	A252T	probably damaging	Het
Zfp619	A	G	7: 39,184,288 (GRCm39)	Y106C	probably damaging	Het
Zic5	G	A	14: 122,696,924 (GRCm39)	P564S	unknown	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
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
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