Incidental Mutation 'R6340:Fnip2'
ID |
513870 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fnip2
|
Ensembl Gene |
ENSMUSG00000061175 |
Gene Name |
folliculin interacting protein 2 |
Synonyms |
D630023B12Rik |
MMRRC Submission |
044494-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6340 (G1)
|
Quality Score |
196.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
79363281-79475103 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79415152 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 243
(F243L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076136]
[ENSMUST00000133154]
|
AlphaFold |
Q80TD3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076136
|
SMART Domains |
Protein: ENSMUSP00000075497 Gene: ENSMUSG00000061175
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: F243L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115275 Gene: ENSMUSG00000061175 AA Change: F243L
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
|
Meta Mutation Damage Score |
0.1451 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
98% (41/42) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef4 |
C |
T |
1: 34,771,304 (GRCm39) |
L1204F |
probably damaging |
Het |
Atp9b |
T |
C |
18: 80,822,115 (GRCm39) |
D495G |
probably benign |
Het |
B020011L13Rik |
G |
A |
1: 117,729,614 (GRCm39) |
V374I |
probably benign |
Het |
Babam1 |
T |
A |
8: 71,855,449 (GRCm39) |
V214D |
probably damaging |
Het |
Chpf2 |
T |
C |
5: 24,796,773 (GRCm39) |
V573A |
probably damaging |
Het |
Elmo3 |
T |
A |
8: 106,033,379 (GRCm39) |
I115N |
probably damaging |
Het |
Emc1 |
T |
A |
4: 139,092,874 (GRCm39) |
Y564N |
probably damaging |
Het |
Fam180a |
A |
C |
6: 35,292,322 (GRCm39) |
L28R |
probably damaging |
Het |
Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
Gabra5 |
A |
T |
7: 57,063,496 (GRCm39) |
N309K |
probably damaging |
Het |
Gm17654 |
A |
G |
14: 43,815,534 (GRCm39) |
L91P |
unknown |
Het |
Gm19684 |
G |
A |
17: 36,438,402 (GRCm39) |
|
probably null |
Het |
Gm9376 |
A |
T |
14: 118,504,669 (GRCm39) |
M34L |
unknown |
Het |
Hmgcr |
A |
G |
13: 96,802,366 (GRCm39) |
F106S |
probably damaging |
Het |
Hydin |
T |
G |
8: 111,081,574 (GRCm39) |
|
probably null |
Het |
Igf2bp3 |
A |
G |
6: 49,191,393 (GRCm39) |
Y5H |
probably damaging |
Het |
Igsf11 |
A |
G |
16: 38,829,336 (GRCm39) |
T77A |
probably benign |
Het |
Il20 |
A |
G |
1: 130,836,118 (GRCm39) |
Y142H |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,342,042 (GRCm39) |
D2160E |
probably benign |
Het |
Melk |
A |
G |
4: 44,340,633 (GRCm39) |
Y310C |
probably damaging |
Het |
Mep1a |
C |
T |
17: 43,789,949 (GRCm39) |
V454M |
probably benign |
Het |
Mep1a |
A |
T |
17: 43,790,124 (GRCm39) |
N395K |
probably benign |
Het |
Mnt |
A |
G |
11: 74,727,242 (GRCm39) |
K43E |
probably damaging |
Het |
Nrap |
A |
G |
19: 56,335,616 (GRCm39) |
I853T |
probably damaging |
Het |
Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
Or1j13 |
T |
C |
2: 36,370,032 (GRCm39) |
T37A |
probably benign |
Het |
Or8d1b |
T |
G |
9: 38,887,062 (GRCm39) |
L30R |
probably damaging |
Het |
Pdia4 |
A |
G |
6: 47,777,952 (GRCm39) |
S347P |
probably benign |
Het |
Pkd1l1 |
T |
G |
11: 8,794,649 (GRCm39) |
Q1837H |
probably benign |
Het |
Pramel11 |
T |
C |
4: 143,623,877 (GRCm39) |
N99S |
possibly damaging |
Het |
Pygo1 |
T |
A |
9: 72,852,711 (GRCm39) |
N299K |
probably damaging |
Het |
Sirpb1b |
A |
T |
3: 15,613,725 (GRCm39) |
V52E |
probably damaging |
Het |
Tdrd7 |
T |
A |
4: 45,994,517 (GRCm39) |
I305N |
probably damaging |
Het |
Trav14-1 |
T |
C |
14: 53,791,955 (GRCm39) |
S102P |
probably damaging |
Het |
Tsga10 |
C |
A |
1: 37,874,266 (GRCm39) |
|
probably benign |
Het |
Uso1 |
T |
A |
5: 92,347,711 (GRCm39) |
H837Q |
probably benign |
Het |
Vmn2r82 |
A |
T |
10: 79,231,727 (GRCm39) |
R575S |
probably benign |
Het |
Yae1d1 |
C |
A |
13: 18,167,861 (GRCm39) |
A11S |
probably benign |
Het |
Zfp277 |
A |
G |
12: 40,368,548 (GRCm39) |
I459T |
possibly damaging |
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 |
IGL03327:Fnip2
|
APN |
3 |
79,425,388 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCACAACAGAGGTTCATGGC -3'
(R):5'- CTCTCTGAGTGCTTACAGTTGG -3'
Sequencing Primer
(F):5'- CAGAGGTTCATGGCTGAAATTTC -3'
(R):5'- AGTGCTTACAGTTGGGGGCG -3'
|
Posted On |
2018-04-27 |