Mutagenetix > Incidental Mutation

Incidental Mutation 'R2329:Fnip1'

245808

Institutional Source

Beutler Lab

Gene Symbol

Fnip1

Ensembl Gene

ENSMUSG00000035992

Gene Name

folliculin interacting protein 1

Synonyms

A730024A03Rik

MMRRC Submission

040320-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.793) question?

Stock #

R2329 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54329025-54409061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54356933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 38 (D38G)

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: D38G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
AA Change: D38G

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

possibly damaging
Transcript: ENSMUST00000143650
AA Change: D14G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992
AA Change: D14G

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 94.8%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	C	13: 77,451,444 (GRCm39)	S843R	probably benign	Het
Adamts15	G	T	9: 30,813,781 (GRCm39)	R795S	probably damaging	Het
Adora2a	T	A	10: 75,162,017 (GRCm39)	V52E	probably damaging	Het
Amph	T	A	13: 19,323,520 (GRCm39)	L594Q	probably benign	Het
Batf3	A	T	1: 190,840,646 (GRCm39)		probably null	Het
Ccdc146	C	T	5: 21,513,610 (GRCm39)		probably null	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Csn3	A	G	5: 88,077,862 (GRCm39)	T123A	possibly damaging	Het
Cspg4	A	G	9: 56,795,834 (GRCm39)	T1190A	probably benign	Het
Dab2	C	A	15: 6,459,044 (GRCm39)	Q298K	possibly damaging	Het
Dpp6	T	C	5: 27,656,286 (GRCm39)		probably null	Het
Efcab6	C	T	15: 83,834,249 (GRCm39)	R453Q	possibly damaging	Het
Ern2	C	T	7: 121,772,710 (GRCm39)	M610I	possibly damaging	Het
Fosb	T	C	7: 19,041,110 (GRCm39)	T128A	probably benign	Het
Gad2	G	A	2: 22,558,301 (GRCm39)	V340M	probably damaging	Het
Gm19684	T	A	17: 36,439,345 (GRCm39)		probably benign	Het
Gstk1	T	A	6: 42,223,848 (GRCm39)	D86E	possibly damaging	Het
Hus1	A	G	11: 8,957,492 (GRCm39)		probably null	Het
Kbtbd8	T	C	6: 95,103,761 (GRCm39)	I547T	probably benign	Het
Mrpl38	T	A	11: 116,022,845 (GRCm39)	H373L	possibly damaging	Het
Nostrin	A	T	2: 68,991,438 (GRCm39)	T144S	probably damaging	Het
Prl8a6	T	C	13: 27,621,050 (GRCm39)	H60R	probably benign	Het
Ros1	A	G	10: 52,038,983 (GRCm39)	I329T	probably damaging	Het
Scd2	T	A	19: 44,286,492 (GRCm39)	Y107*	probably null	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc34a3	T	C	2: 25,119,422 (GRCm39)	T483A	possibly damaging	Het
Slc35c1	A	T	2: 92,289,040 (GRCm39)	Y155*	probably null	Het
Susd1	T	C	4: 59,379,715 (GRCm39)	D304G	possibly damaging	Het
Taf5	C	T	19: 47,063,563 (GRCm39)	S371L	probably benign	Het
Tenm4	A	G	7: 96,545,069 (GRCm39)	T2362A	probably benign	Het
Tsg101	A	T	7: 46,540,868 (GRCm39)	D158E	probably damaging	Het
Ttn	G	A	2: 76,599,786 (GRCm39)	P19102S	probably damaging	Het
Ttn	A	G	2: 76,608,412 (GRCm39)	V17837A	probably damaging	Het
Uhrf1	C	A	17: 56,617,671 (GRCm39)		probably null	Het
Ulk4	C	T	9: 121,101,953 (GRCm39)	E42K	probably damaging	Het
Vmn1r184	A	T	7: 25,966,387 (GRCm39)	L44F	probably damaging	Het
Zfp932	A	T	5: 110,157,406 (GRCm39)	H368L	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
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

Predicted Primers

PCR Primer
(F):5'- GCCTTGACCCACATAGTAGC -3'
(R):5'- CTCGAAATTAGGACTCTGAATTCAG -3'

Sequencing Primer
(F):5'- CTTGACCCACATAGTAGCATTTTAC -3'
(R):5'- CACCGATACTGATGTGTC -3'

Posted On

2014-10-30