Incidental Mutation 'R0114:Fnip1'
| ID |
20669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnip1
|
| Ensembl Gene |
ENSMUSG00000035992 |
| Gene Name |
folliculin interacting protein 1 |
| Synonyms |
A730024A03Rik |
| MMRRC Submission |
038400-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.793)
|
| Stock # |
R0114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
54329025-54409061 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 54378627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046835]
[ENSMUST00000143650]
|
| AlphaFold |
Q68FD7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046835
|
| SMART Domains |
Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
| 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
|
| SMART Domains |
Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992
| 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: 98.6%
- 3x: 97.4%
- 10x: 93.2%
- 20x: 79.2%
|
| Validation Efficiency |
100% (99/99) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
T |
C |
10: 28,861,978 (GRCm39) |
|
probably benign |
Het |
| 4933427D14Rik |
T |
C |
11: 72,086,625 (GRCm39) |
Y262C |
probably damaging |
Het |
| Adamts1 |
C |
A |
16: 85,596,502 (GRCm39) |
V379L |
probably benign |
Het |
| Akt3 |
T |
C |
1: 176,894,817 (GRCm39) |
D260G |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,596,785 (GRCm39) |
L537P |
probably benign |
Het |
| Anln |
A |
T |
9: 22,264,642 (GRCm39) |
I876N |
probably damaging |
Het |
| Ano9 |
A |
T |
7: 140,683,152 (GRCm39) |
|
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,311,194 (GRCm39) |
E218G |
probably benign |
Het |
| Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
| Atp9a |
G |
T |
2: 168,552,776 (GRCm39) |
Y63* |
probably null |
Het |
| Bmpr2 |
G |
T |
1: 59,854,499 (GRCm39) |
C116F |
probably damaging |
Het |
| Cand1 |
T |
C |
10: 119,052,427 (GRCm39) |
D233G |
probably benign |
Het |
| Cftr |
A |
T |
6: 18,282,447 (GRCm39) |
H1049L |
probably damaging |
Het |
| Ckap5 |
A |
T |
2: 91,450,457 (GRCm39) |
D1975V |
possibly damaging |
Het |
| Cyp26c1 |
T |
C |
19: 37,675,081 (GRCm39) |
V134A |
probably benign |
Het |
| Dnai1 |
T |
C |
4: 41,605,686 (GRCm39) |
|
probably benign |
Het |
| Dpp10 |
T |
C |
1: 123,413,821 (GRCm39) |
I163V |
probably benign |
Het |
| Fam151a |
A |
T |
4: 106,591,201 (GRCm39) |
I15F |
possibly damaging |
Het |
| Fanca |
A |
T |
8: 124,015,230 (GRCm39) |
|
probably null |
Het |
| Fes |
A |
G |
7: 80,027,783 (GRCm39) |
V787A |
probably damaging |
Het |
| Gabpb1 |
A |
G |
2: 126,495,494 (GRCm39) |
I86T |
probably damaging |
Het |
| Gmds |
A |
T |
13: 32,411,264 (GRCm39) |
S57T |
probably benign |
Het |
| Gnpat |
T |
G |
8: 125,610,096 (GRCm39) |
D426E |
probably benign |
Het |
| Gnptab |
C |
A |
10: 88,269,262 (GRCm39) |
P655Q |
possibly damaging |
Het |
| Gpi-ps |
A |
G |
8: 5,690,359 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
T |
A |
9: 66,369,128 (GRCm39) |
F2941I |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,803,522 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
| Itga11 |
T |
G |
9: 62,642,575 (GRCm39) |
V166G |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,667,584 (GRCm39) |
V639A |
possibly damaging |
Het |
| Itpr2 |
A |
G |
6: 146,214,377 (GRCm39) |
F1490S |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 26,869,064 (GRCm39) |
E802* |
probably null |
Het |
| Lgi3 |
C |
T |
14: 70,768,469 (GRCm39) |
|
probably benign |
Het |
| Limch1 |
C |
T |
5: 67,193,427 (GRCm39) |
|
probably benign |
Het |
| Lipc |
T |
C |
9: 70,711,063 (GRCm39) |
N363S |
probably damaging |
Het |
| Lrit2 |
A |
G |
14: 36,790,002 (GRCm39) |
|
probably null |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,017,607 (GRCm39) |
Y448C |
probably damaging |
Het |
| Mybpc3 |
A |
G |
2: 90,954,839 (GRCm39) |
E450G |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,875,242 (GRCm39) |
T1549S |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,355,859 (GRCm39) |
|
probably null |
Het |
| Nckap1l |
T |
A |
15: 103,363,455 (GRCm39) |
C54S |
probably benign |
Het |
| Nlrp9b |
A |
G |
7: 19,757,981 (GRCm39) |
D406G |
probably benign |
Het |
| Nprl3 |
T |
A |
11: 32,189,784 (GRCm39) |
|
probably benign |
Het |
| Nvl |
A |
G |
1: 180,947,956 (GRCm39) |
V429A |
probably benign |
Het |
| Opa1 |
A |
T |
16: 29,448,453 (GRCm39) |
N912Y |
probably benign |
Het |
| Or14j3 |
A |
T |
17: 37,900,306 (GRCm39) |
*313K |
probably null |
Het |
| Or1x2 |
G |
A |
11: 50,918,431 (GRCm39) |
V201I |
probably benign |
Het |
| Or52b4i |
A |
T |
7: 102,191,938 (GRCm39) |
Q265L |
probably benign |
Het |
| Or6c211 |
T |
A |
10: 129,505,467 (GRCm39) |
Y307F |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,042,869 (GRCm39) |
V2317A |
possibly damaging |
Het |
| Phf3 |
A |
T |
1: 30,844,524 (GRCm39) |
N1478K |
possibly damaging |
Het |
| Phykpl |
G |
A |
11: 51,477,480 (GRCm39) |
D91N |
probably benign |
Het |
| Polr2b |
T |
A |
5: 77,491,110 (GRCm39) |
C984S |
probably damaging |
Het |
| Ppfibp1 |
A |
G |
6: 146,899,731 (GRCm39) |
R141G |
probably benign |
Het |
| Ppm1d |
G |
A |
11: 85,217,731 (GRCm39) |
G20R |
probably damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5b |
C |
A |
19: 6,278,461 (GRCm39) |
V483F |
probably benign |
Het |
| Ppp4r4 |
T |
A |
12: 103,542,633 (GRCm39) |
C132S |
probably benign |
Het |
| Prg2 |
A |
G |
2: 84,813,800 (GRCm39) |
|
probably benign |
Het |
| Prpf4b |
G |
A |
13: 35,074,471 (GRCm39) |
|
probably benign |
Het |
| Rad54l2 |
T |
C |
9: 106,590,654 (GRCm39) |
T491A |
probably damaging |
Het |
| Rnf213 |
G |
T |
11: 119,305,413 (GRCm39) |
W548L |
probably damaging |
Het |
| Rusc2 |
G |
T |
4: 43,422,055 (GRCm39) |
C825F |
probably damaging |
Het |
| Sema4b |
A |
G |
7: 79,868,826 (GRCm39) |
|
probably benign |
Het |
| Sema6a |
A |
G |
18: 47,423,244 (GRCm39) |
V254A |
probably damaging |
Het |
| Slc13a3 |
A |
G |
2: 165,266,501 (GRCm39) |
F346L |
probably damaging |
Het |
| Slc25a17 |
T |
C |
15: 81,222,160 (GRCm39) |
D104G |
probably damaging |
Het |
| Specc1 |
A |
T |
11: 62,037,139 (GRCm39) |
N707Y |
possibly damaging |
Het |
| Tex48 |
T |
A |
4: 63,526,696 (GRCm39) |
E76V |
probably damaging |
Het |
| Tfr2 |
T |
C |
5: 137,575,727 (GRCm39) |
V281A |
probably benign |
Het |
| Tgfb1i1 |
A |
C |
7: 127,848,666 (GRCm39) |
Q238H |
probably damaging |
Het |
| Thoc6 |
G |
A |
17: 23,889,213 (GRCm39) |
T122I |
probably benign |
Het |
| Tmtc1 |
G |
A |
6: 148,314,328 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 145,014,617 (GRCm39) |
D264G |
possibly damaging |
Het |
| Trim43a |
T |
A |
9: 88,466,213 (GRCm39) |
I178N |
probably damaging |
Het |
| Ttn |
G |
C |
2: 76,537,437 (GRCm39) |
I26503M |
possibly damaging |
Het |
| Usp28 |
C |
A |
9: 48,950,323 (GRCm39) |
D589E |
probably benign |
Het |
| Utp23 |
T |
C |
15: 51,745,907 (GRCm39) |
S242P |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,374,603 (GRCm39) |
Y305C |
probably benign |
Het |
| Vwa5b1 |
C |
A |
4: 138,336,169 (GRCm39) |
E142* |
probably null |
Het |
| Xrn2 |
A |
T |
2: 146,871,699 (GRCm39) |
T374S |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,601,488 (GRCm39) |
Q144L |
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 |
|
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 |
|
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'- CTGCATTTGCAGGAGAACATTGGAATC -3'
(R):5'- GGAAAGCAGTAAGTCCCTCCACTTTG -3'
Sequencing Primer
(F):5'- gagaaaccctgtctccaaacaaATAC -3'
(R):5'- AGTAAGTCCCTCCACTTTGTAAGC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation