Incidental Mutation 'IGL03327:Fnip2'
| ID |
416701 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fnip2
|
| Ensembl Gene |
ENSMUSG00000061175 |
| Gene Name |
folliculin interacting protein 2 |
| Synonyms |
D630023B12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03327
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
79363281-79475103 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79425388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 69
(E69G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076136]
[ENSMUST00000133154]
|
| AlphaFold |
Q80TD3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076136
AA Change: E69G
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175
AA Change: E69G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FNIP_N
|
42 |
168 |
4.3e-39 |
PFAM |
|
low complexity region
|
240 |
261 |
N/A |
INTRINSIC |
|
Pfam:FNIP_M
|
289 |
528 |
5.9e-92 |
PFAM |
|
low complexity region
|
557 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
748 |
755 |
N/A |
INTRINSIC |
|
Pfam:FNIP_C
|
920 |
1104 |
4.1e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130613
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133154
AA Change: E69G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175
AA Change: E69G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FNIP_N
|
42 |
164 |
5.2e-34 |
PFAM |
|
low complexity region
|
270 |
291 |
N/A |
INTRINSIC |
|
Pfam:FNIP_M
|
323 |
557 |
3.9e-93 |
PFAM |
|
low complexity region
|
587 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
778 |
785 |
N/A |
INTRINSIC |
|
Pfam:FNIP_C
|
951 |
1134 |
2.3e-74 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139171
|
| 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 regulating the O6-methylguanine-induced apoptosis signaling pathway. This protein may also play a role 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 1, 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 a null allele have normal lifespans. Mice with combined loss of this gene and a single null allele of Fnip1 develop kidney cancer. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
C |
15: 64,792,116 (GRCm39) |
Y280C |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,465,854 (GRCm39) |
T1647A |
probably benign |
Het |
| Ano3 |
T |
C |
2: 110,527,523 (GRCm39) |
I562V |
possibly damaging |
Het |
| Ash1l |
C |
T |
3: 88,930,390 (GRCm39) |
P1956S |
probably benign |
Het |
| Ccdc9b |
T |
C |
2: 118,592,151 (GRCm39) |
N79S |
probably damaging |
Het |
| Cd160 |
C |
T |
3: 96,712,849 (GRCm39) |
|
probably null |
Het |
| Chd3 |
G |
T |
11: 69,241,012 (GRCm39) |
A1527E |
probably damaging |
Het |
| Clcn1 |
C |
T |
6: 42,288,153 (GRCm39) |
T797I |
probably benign |
Het |
| Cntnap3 |
G |
A |
13: 65,035,582 (GRCm39) |
Q44* |
probably null |
Het |
| Cntnap4 |
A |
G |
8: 113,500,208 (GRCm39) |
D500G |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,644,433 (GRCm39) |
D1285G |
possibly damaging |
Het |
| Cr2 |
A |
T |
1: 194,852,067 (GRCm39) |
V94E |
probably damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,735,823 (GRCm39) |
S924P |
possibly damaging |
Het |
| Eif5b |
T |
C |
1: 38,080,772 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
A |
C |
8: 45,403,505 (GRCm39) |
K85N |
probably damaging |
Het |
| Fzr1 |
T |
C |
10: 81,205,018 (GRCm39) |
T300A |
probably benign |
Het |
| Galc |
A |
G |
12: 98,173,735 (GRCm39) |
|
probably benign |
Het |
| Gm17079 |
T |
C |
14: 51,930,420 (GRCm39) |
T142A |
possibly damaging |
Het |
| Hibch |
G |
A |
1: 52,959,539 (GRCm39) |
|
probably benign |
Het |
| Hmmr |
A |
G |
11: 40,606,242 (GRCm39) |
C243R |
probably damaging |
Het |
| Il25 |
T |
C |
14: 55,172,817 (GRCm39) |
|
probably benign |
Het |
| Kif5b |
G |
A |
18: 6,222,767 (GRCm39) |
R355W |
probably damaging |
Het |
| Kifc3 |
C |
T |
8: 95,835,060 (GRCm39) |
D242N |
probably damaging |
Het |
| Lig1 |
T |
G |
7: 13,037,781 (GRCm39) |
I677S |
probably damaging |
Het |
| Lrig1 |
G |
T |
6: 94,583,104 (GRCm39) |
A1004E |
probably benign |
Het |
| Nras |
A |
G |
3: 102,966,340 (GRCm39) |
T35A |
probably damaging |
Het |
| Nt5c1b |
C |
T |
12: 10,424,861 (GRCm39) |
Q136* |
probably null |
Het |
| Or4f54 |
A |
T |
2: 111,122,807 (GRCm39) |
N65Y |
probably damaging |
Het |
| Or6c217 |
T |
G |
10: 129,738,451 (GRCm39) |
I43L |
possibly damaging |
Het |
| Or8k1 |
C |
T |
2: 86,047,618 (GRCm39) |
W145* |
probably null |
Het |
| Plcb3 |
A |
G |
19: 6,932,420 (GRCm39) |
F1080L |
probably benign |
Het |
| Plpp2 |
T |
C |
10: 79,366,818 (GRCm39) |
|
probably null |
Het |
| Ptpre |
G |
A |
7: 135,274,551 (GRCm39) |
|
probably null |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Sh3bp4 |
C |
A |
1: 89,071,885 (GRCm39) |
Y244* |
probably null |
Het |
| Trip11 |
A |
T |
12: 101,849,677 (GRCm39) |
N1462K |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,068,192 (GRCm39) |
D278G |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,518,984 (GRCm39) |
T694A |
probably benign |
Het |
| Wdr35 |
T |
C |
12: 9,028,694 (GRCm39) |
|
probably benign |
Het |
| Xdh |
T |
C |
17: 74,223,787 (GRCm39) |
E535G |
probably benign |
Het |
|
| Other mutations in Fnip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Fnip2
|
APN |
3 |
79,388,828 (GRCm39) |
missense |
probably benign |
|
|
IGL00339:Fnip2
|
APN |
3 |
79,422,462 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL00340:Fnip2
|
APN |
3 |
79,425,368 (GRCm39) |
splice site |
probably benign |
|
|
IGL00434:Fnip2
|
APN |
3 |
79,419,796 (GRCm39) |
splice site |
probably benign |
|
|
IGL01134:Fnip2
|
APN |
3 |
79,419,810 (GRCm39) |
nonsense |
probably null |
|
|
IGL02732:Fnip2
|
APN |
3 |
79,373,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03402:Fnip2
|
APN |
3 |
79,388,583 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0314:Fnip2
|
UTSW |
3 |
79,388,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0318:Fnip2
|
UTSW |
3 |
79,419,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0699:Fnip2
|
UTSW |
3 |
79,388,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1188:Fnip2
|
UTSW |
3 |
79,369,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1290:Fnip2
|
UTSW |
3 |
79,373,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1406:Fnip2
|
UTSW |
3 |
79,415,398 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1406:Fnip2
|
UTSW |
3 |
79,415,398 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1535:Fnip2
|
UTSW |
3 |
79,389,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1618:Fnip2
|
UTSW |
3 |
79,415,475 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1661:Fnip2
|
UTSW |
3 |
79,422,456 (GRCm39) |
missense |
probably benign |
|
|
R1665:Fnip2
|
UTSW |
3 |
79,422,456 (GRCm39) |
missense |
probably benign |
|
|
R1965:Fnip2
|
UTSW |
3 |
79,400,779 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1966:Fnip2
|
UTSW |
3 |
79,400,779 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1976:Fnip2
|
UTSW |
3 |
79,388,238 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2004:Fnip2
|
UTSW |
3 |
79,419,632 (GRCm39) |
splice site |
probably benign |
|
|
R2054:Fnip2
|
UTSW |
3 |
79,479,772 (GRCm39) |
unclassified |
probably benign |
|
|
R2145:Fnip2
|
UTSW |
3 |
79,407,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2400:Fnip2
|
UTSW |
3 |
79,386,941 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2679:Fnip2
|
UTSW |
3 |
79,388,233 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3157:Fnip2
|
UTSW |
3 |
79,474,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3851:Fnip2
|
UTSW |
3 |
79,369,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3910:Fnip2
|
UTSW |
3 |
79,386,812 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3911:Fnip2
|
UTSW |
3 |
79,386,812 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3912:Fnip2
|
UTSW |
3 |
79,386,812 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4035:Fnip2
|
UTSW |
3 |
79,386,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4166:Fnip2
|
UTSW |
3 |
79,369,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4537:Fnip2
|
UTSW |
3 |
79,373,021 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4732:Fnip2
|
UTSW |
3 |
79,388,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Fnip2
|
UTSW |
3 |
79,388,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Fnip2
|
UTSW |
3 |
79,373,028 (GRCm39) |
nonsense |
probably null |
|
|
R4923:Fnip2
|
UTSW |
3 |
79,396,701 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5043:Fnip2
|
UTSW |
3 |
79,400,174 (GRCm39) |
nonsense |
probably null |
|
|
R5160:Fnip2
|
UTSW |
3 |
79,396,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5162:Fnip2
|
UTSW |
3 |
79,389,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5196:Fnip2
|
UTSW |
3 |
79,479,845 (GRCm39) |
unclassified |
probably benign |
|
|
R5283:Fnip2
|
UTSW |
3 |
79,373,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Fnip2
|
UTSW |
3 |
79,388,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5402:Fnip2
|
UTSW |
3 |
79,388,250 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6340:Fnip2
|
UTSW |
3 |
79,415,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6459:Fnip2
|
UTSW |
3 |
79,388,941 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6592:Fnip2
|
UTSW |
3 |
79,389,015 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6616:Fnip2
|
UTSW |
3 |
79,388,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6933:Fnip2
|
UTSW |
3 |
79,425,418 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6962:Fnip2
|
UTSW |
3 |
79,396,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6971:Fnip2
|
UTSW |
3 |
79,388,428 (GRCm39) |
nonsense |
probably null |
|
|
R7050:Fnip2
|
UTSW |
3 |
79,413,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7097:Fnip2
|
UTSW |
3 |
79,388,313 (GRCm39) |
missense |
probably benign |
|
|
R7315:Fnip2
|
UTSW |
3 |
79,413,512 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7714:Fnip2
|
UTSW |
3 |
79,425,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Fnip2
|
UTSW |
3 |
79,415,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8381:Fnip2
|
UTSW |
3 |
79,373,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8479:Fnip2
|
UTSW |
3 |
79,419,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8485:Fnip2
|
UTSW |
3 |
79,388,844 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9344:Fnip2
|
UTSW |
3 |
79,407,717 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9753:Fnip2
|
UTSW |
3 |
79,415,411 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Posted On |
2016-08-02 |
Incidental Mutation