Incidental Mutation 'R5689:Fnip1'
ID |
443585 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fnip1
|
Ensembl Gene |
ENSMUSG00000035992 |
Gene Name |
folliculin interacting protein 1 |
Synonyms |
A730024A03Rik |
MMRRC Submission |
043322-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.790)
|
Stock # |
R5689 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
54329025-54409061 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 54393115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 517
(V517A)
|
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: V517A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049026 Gene: ENSMUSG00000035992 AA Change: V517A
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: V493A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121399 Gene: ENSMUSG00000035992 AA Change: V493A
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 |
0.3121 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
95% (63/66) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy7 |
G |
T |
8: 89,051,412 (GRCm39) |
C844F |
probably benign |
Het |
Afdn |
T |
C |
17: 14,075,621 (GRCm39) |
V945A |
probably damaging |
Het |
Aimp2 |
T |
C |
5: 143,843,389 (GRCm39) |
D67G |
possibly damaging |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Atp11b |
G |
T |
3: 35,888,501 (GRCm39) |
V924F |
possibly damaging |
Het |
Atp8b1 |
C |
T |
18: 64,697,608 (GRCm39) |
R412H |
probably damaging |
Het |
Cfb |
T |
A |
17: 35,080,770 (GRCm39) |
T76S |
probably benign |
Het |
Cmpk2 |
A |
T |
12: 26,519,766 (GRCm39) |
H139L |
probably benign |
Het |
Cypt4 |
T |
C |
9: 24,536,542 (GRCm39) |
S11P |
possibly damaging |
Het |
Dbx1 |
A |
G |
7: 49,282,519 (GRCm39) |
F229L |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 72,998,210 (GRCm39) |
M4071L |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,444,857 (GRCm39) |
V3949A |
possibly damaging |
Het |
Dnajc25 |
A |
G |
4: 59,017,716 (GRCm39) |
E6G |
probably damaging |
Het |
Dync2h1 |
C |
A |
9: 7,169,689 (GRCm39) |
V263F |
probably damaging |
Het |
Eno4 |
T |
A |
19: 58,959,088 (GRCm39) |
D403E |
probably benign |
Het |
Evi5l |
C |
T |
8: 4,255,460 (GRCm39) |
Q542* |
probably null |
Het |
Fam135a |
A |
G |
1: 24,068,134 (GRCm39) |
S12P |
probably benign |
Het |
Flnc |
G |
A |
6: 29,441,591 (GRCm39) |
A458T |
probably benign |
Het |
Galc |
G |
T |
12: 98,179,245 (GRCm39) |
H361N |
possibly damaging |
Het |
Gask1a |
T |
C |
9: 121,794,754 (GRCm39) |
F303L |
probably damaging |
Het |
Gcnt1 |
T |
A |
19: 17,306,768 (GRCm39) |
D319V |
probably damaging |
Het |
Gm26996 |
T |
C |
6: 130,555,258 (GRCm39) |
|
noncoding transcript |
Het |
Gm5321 |
A |
T |
7: 6,022,268 (GRCm39) |
|
noncoding transcript |
Het |
Grin3b |
T |
C |
10: 79,810,465 (GRCm39) |
L657P |
probably damaging |
Het |
Gstm5 |
T |
C |
3: 107,803,981 (GRCm39) |
F54S |
probably damaging |
Het |
Ilk |
C |
A |
7: 105,390,857 (GRCm39) |
L267I |
probably benign |
Het |
Lifr |
A |
G |
15: 7,214,285 (GRCm39) |
Y713C |
probably damaging |
Het |
Lnx2 |
A |
T |
5: 146,965,961 (GRCm39) |
V386E |
probably damaging |
Het |
Lrch1 |
T |
C |
14: 75,023,764 (GRCm39) |
E587G |
probably damaging |
Het |
Or10g3 |
C |
T |
14: 52,610,214 (GRCm39) |
V99M |
possibly damaging |
Het |
Osgin1 |
A |
G |
8: 120,171,728 (GRCm39) |
*173W |
probably null |
Het |
Pcdhga7 |
C |
A |
18: 37,849,736 (GRCm39) |
P581H |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,599,683 (GRCm39) |
L2384* |
probably null |
Het |
Phf12 |
T |
A |
11: 77,914,551 (GRCm39) |
N115K |
probably damaging |
Het |
Pmel |
A |
G |
10: 128,552,170 (GRCm39) |
T335A |
probably damaging |
Het |
Polr3e |
C |
A |
7: 120,539,912 (GRCm39) |
T579K |
possibly damaging |
Het |
Ptprc |
A |
G |
1: 138,045,515 (GRCm39) |
V164A |
probably benign |
Het |
Rapsn |
T |
C |
2: 90,866,269 (GRCm39) |
F43S |
probably damaging |
Het |
Rarb |
T |
A |
14: 16,434,177 (GRCm38) |
I334F |
probably damaging |
Het |
Rev3l |
T |
C |
10: 39,670,954 (GRCm39) |
Y167H |
probably damaging |
Het |
Rnf146 |
T |
C |
10: 29,223,800 (GRCm39) |
T29A |
probably benign |
Het |
Rsf1 |
GC |
GCGGCGGCGCC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slc5a10 |
C |
T |
11: 61,598,710 (GRCm39) |
M223I |
probably benign |
Het |
Slc7a11 |
C |
G |
3: 50,326,780 (GRCm39) |
V494L |
probably benign |
Het |
Slitrk6 |
C |
T |
14: 110,989,558 (GRCm39) |
E50K |
probably benign |
Het |
Smg8 |
A |
G |
11: 86,975,949 (GRCm39) |
F544S |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,571,063 (GRCm39) |
M444V |
possibly damaging |
Het |
Trav7d-4 |
G |
A |
14: 53,007,651 (GRCm39) |
R48H |
probably damaging |
Het |
Trim50 |
A |
T |
5: 135,382,516 (GRCm39) |
T123S |
probably damaging |
Het |
Trpc4ap |
C |
G |
2: 155,512,955 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,618,620 (GRCm39) |
R14475S |
probably damaging |
Het |
Uts2 |
A |
T |
4: 151,083,565 (GRCm39) |
T59S |
possibly damaging |
Het |
Vmn1r52 |
T |
C |
6: 90,156,232 (GRCm39) |
S179P |
possibly damaging |
Het |
Vmn2r116 |
A |
G |
17: 23,616,693 (GRCm39) |
H537R |
probably benign |
Het |
Vps16 |
C |
T |
2: 130,281,011 (GRCm39) |
Q226* |
probably null |
Het |
Zfhx2 |
T |
C |
14: 55,311,360 (GRCm39) |
T445A |
possibly damaging |
Het |
Zfp638 |
T |
C |
6: 83,906,054 (GRCm39) |
V73A |
probably damaging |
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 |
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 |
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'- CACAGCTGTTTAGAAACACAGC -3'
(R):5'- CTAAAGTGGTAGTAATCACTGTGC -3'
Sequencing Primer
(F):5'- AACAAAACCTGTTCACCTTTCTC -3'
(R):5'- CTGTGCCTGGCATAACAATG -3'
|
Posted On |
2016-11-09 |