Incidental Mutation 'R2850:Fnip1'
ID |
252116 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fnip1
|
Ensembl Gene |
ENSMUSG00000035992 |
Gene Name |
folliculin interacting protein 1 |
Synonyms |
A730024A03Rik |
MMRRC Submission |
040443-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.790)
|
Stock # |
R2850 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
54329025-54409061 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 54393503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 646
(E646D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046835]
[ENSMUST00000143650]
|
AlphaFold |
Q68FD7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046835
AA Change: E646D
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000049026 Gene: ENSMUSG00000035992 AA Change: E646D
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: E622D
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000121399 Gene: ENSMUSG00000035992 AA Change: E622D
Domain | Start | End | E-Value | Type |
Pfam:FNIP_N
|
17 |
139 |
3.9e-36 |
PFAM |
Pfam:FNIP_M
|
288 |
526 |
5.1e-87 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (57/57) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
T |
A |
13: 12,290,065 (GRCm39) |
T734S |
probably damaging |
Het |
Ago1 |
T |
C |
4: 126,336,868 (GRCm39) |
|
probably benign |
Het |
Ahi1 |
C |
T |
10: 20,876,492 (GRCm39) |
T801I |
probably benign |
Het |
Alms1 |
T |
C |
6: 85,598,281 (GRCm39) |
S1505P |
probably benign |
Het |
Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
Anxa6 |
T |
A |
11: 54,901,852 (GRCm39) |
Y95F |
possibly damaging |
Het |
Cacna1b |
C |
T |
2: 24,651,800 (GRCm39) |
M126I |
probably damaging |
Het |
Clk1 |
A |
G |
1: 58,451,438 (GRCm39) |
L457S |
probably damaging |
Het |
Cngb3 |
T |
C |
4: 19,415,690 (GRCm39) |
I400T |
possibly damaging |
Het |
Cntnap5c |
T |
A |
17: 58,717,343 (GRCm39) |
|
probably benign |
Het |
Corin |
A |
G |
5: 72,462,298 (GRCm39) |
V837A |
probably damaging |
Het |
Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
Cubn |
G |
A |
2: 13,327,764 (GRCm39) |
T2687I |
probably damaging |
Het |
Cypt3 |
T |
A |
X: 152,342,274 (GRCm39) |
N168K |
probably damaging |
Het |
E330020D12Rik |
A |
G |
1: 153,282,336 (GRCm39) |
|
noncoding transcript |
Het |
Fbxl4 |
T |
C |
4: 22,403,624 (GRCm39) |
M399T |
probably benign |
Het |
Fbxo22 |
T |
C |
9: 55,130,699 (GRCm39) |
F323L |
probably damaging |
Het |
Gid4 |
G |
A |
11: 60,329,400 (GRCm39) |
|
probably null |
Het |
Gnb5 |
A |
T |
9: 75,234,511 (GRCm39) |
D70V |
probably damaging |
Het |
Gpank1 |
A |
G |
17: 35,343,557 (GRCm39) |
S346G |
probably benign |
Het |
Gtf3c6 |
T |
C |
10: 40,130,254 (GRCm39) |
|
probably benign |
Het |
Hdx |
T |
C |
X: 110,502,720 (GRCm39) |
I562V |
probably benign |
Het |
Ifrd2 |
T |
C |
9: 107,468,908 (GRCm39) |
|
probably benign |
Het |
Itch |
A |
C |
2: 155,044,141 (GRCm39) |
Q482P |
probably benign |
Het |
Kif11 |
C |
A |
19: 37,397,941 (GRCm39) |
D630E |
probably benign |
Het |
Lpl |
G |
T |
8: 69,352,164 (GRCm39) |
E372* |
probably null |
Het |
Mrps26 |
T |
C |
2: 130,406,967 (GRCm39) |
V198A |
probably benign |
Het |
Mucl1 |
T |
C |
15: 103,782,348 (GRCm39) |
N201S |
possibly damaging |
Het |
Nedd4 |
C |
T |
9: 72,632,356 (GRCm39) |
L397F |
possibly damaging |
Het |
Nfat5 |
A |
G |
8: 108,020,492 (GRCm39) |
D12G |
probably damaging |
Het |
Or5b102 |
T |
C |
19: 13,040,934 (GRCm39) |
L53P |
probably damaging |
Het |
Pik3r3 |
A |
G |
4: 116,127,981 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,350,622 (GRCm39) |
V489E |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,579,300 (GRCm39) |
E1802G |
possibly damaging |
Het |
Plb1 |
T |
A |
5: 32,450,568 (GRCm39) |
S370T |
probably benign |
Het |
Ppat |
G |
A |
5: 77,067,222 (GRCm39) |
T337I |
probably benign |
Het |
Prkd3 |
A |
G |
17: 79,262,025 (GRCm39) |
V763A |
possibly damaging |
Het |
Prr9 |
A |
T |
3: 92,030,476 (GRCm39) |
S55T |
probably benign |
Het |
Rbpms |
G |
T |
8: 34,324,405 (GRCm39) |
N108K |
possibly damaging |
Het |
Rc3h2 |
A |
T |
2: 37,267,427 (GRCm39) |
D972E |
probably benign |
Het |
Rrbp1 |
C |
T |
2: 143,791,269 (GRCm39) |
R1378Q |
probably benign |
Het |
Slc26a7 |
T |
A |
4: 14,593,806 (GRCm39) |
|
probably benign |
Het |
Stard6 |
T |
A |
18: 70,616,522 (GRCm39) |
H60Q |
probably benign |
Het |
Sult6b2 |
T |
C |
6: 142,743,613 (GRCm39) |
T138A |
probably benign |
Het |
Th |
G |
A |
7: 142,447,812 (GRCm39) |
Q329* |
probably null |
Het |
Tmco3 |
A |
G |
8: 13,345,024 (GRCm39) |
H268R |
probably benign |
Het |
Tnn |
T |
C |
1: 159,966,857 (GRCm39) |
D429G |
probably benign |
Het |
Tnrc6a |
G |
A |
7: 122,779,023 (GRCm39) |
G1245R |
probably damaging |
Het |
Trem3 |
C |
A |
17: 48,556,669 (GRCm39) |
L47M |
probably benign |
Het |
Trpm6 |
T |
A |
19: 18,769,454 (GRCm39) |
C307S |
possibly damaging |
Het |
Ube2j1 |
T |
A |
4: 33,049,696 (GRCm39) |
N231K |
probably benign |
Het |
Urb1 |
A |
G |
16: 90,571,144 (GRCm39) |
Y1222H |
probably benign |
Het |
Wdr81 |
A |
T |
11: 75,341,998 (GRCm39) |
S1090T |
probably damaging |
Het |
Ythdf3 |
T |
C |
3: 16,257,982 (GRCm39) |
|
probably benign |
Het |
Zfp280d |
A |
G |
9: 72,219,371 (GRCm39) |
T183A |
probably benign |
Het |
Zfp354c |
G |
A |
11: 50,706,158 (GRCm39) |
Q306* |
probably null |
Het |
Zp2 |
T |
C |
7: 119,737,529 (GRCm39) |
H252R |
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 |
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'- GCCAGGCACAGTGATTACTACC -3'
(R):5'- TGCCAGGATTCTTCTCTTGG -3'
Sequencing Primer
(F):5'- GGCACAGTGATTACTACCACTTTAG -3'
(R):5'- GGTTCCAAGCATGTCTCTGACAAC -3'
|
Posted On |
2014-12-04 |