Incidental Mutation 'R4777:Fnip1'
ID |
368040 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fnip1
|
Ensembl Gene |
ENSMUSG00000035992 |
Gene Name |
folliculin interacting protein 1 |
Synonyms |
A730024A03Rik |
MMRRC Submission |
041992-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.790)
|
Stock # |
R4777 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
54329025-54409061 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 54391382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 438
(N438K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121399
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046835]
[ENSMUST00000143650]
|
AlphaFold |
Q68FD7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046835
AA Change: N462K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049026 Gene: ENSMUSG00000035992 AA Change: N462K
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: N438K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121399 Gene: ENSMUSG00000035992 AA Change: N438K
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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
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 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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
C |
3: 137,771,503 (GRCm39) |
S231R |
probably benign |
Het |
5730455P16Rik |
A |
T |
11: 80,265,041 (GRCm39) |
I137N |
probably damaging |
Het |
Abhd10 |
G |
A |
16: 45,557,279 (GRCm39) |
Q176* |
probably null |
Het |
Acer3 |
T |
C |
7: 97,910,804 (GRCm39) |
Y86C |
probably damaging |
Het |
Ankrd36 |
T |
C |
11: 5,557,120 (GRCm39) |
V356A |
probably benign |
Het |
Atp1a1 |
A |
G |
3: 101,502,312 (GRCm39) |
|
probably null |
Het |
Bmp8b |
G |
A |
4: 123,015,793 (GRCm39) |
R260Q |
possibly damaging |
Het |
C2cd3 |
T |
A |
7: 100,065,539 (GRCm39) |
V775D |
possibly damaging |
Het |
Cacna1b |
T |
A |
2: 24,622,337 (GRCm39) |
I216F |
probably damaging |
Het |
Capn5 |
T |
A |
7: 97,780,925 (GRCm39) |
N284I |
probably damaging |
Het |
Cbr1 |
C |
A |
16: 93,406,942 (GRCm39) |
D219E |
probably benign |
Het |
Cdca2 |
C |
T |
14: 67,950,589 (GRCm39) |
R114Q |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 109,922,055 (GRCm39) |
W49* |
probably null |
Het |
Cep152 |
C |
T |
2: 125,406,015 (GRCm39) |
V1506I |
probably benign |
Het |
Cfap97 |
C |
T |
8: 46,648,334 (GRCm39) |
Q537* |
probably null |
Het |
Cpsf2 |
T |
A |
12: 101,963,091 (GRCm39) |
V385E |
probably damaging |
Het |
Dse |
A |
G |
10: 34,029,584 (GRCm39) |
V502A |
possibly damaging |
Het |
Fam171a1 |
T |
A |
2: 3,224,550 (GRCm39) |
F300L |
probably benign |
Het |
Fstl5 |
C |
T |
3: 76,500,807 (GRCm39) |
T412M |
probably damaging |
Het |
Gm11938 |
T |
A |
11: 99,494,059 (GRCm39) |
Q12L |
unknown |
Het |
Hcls1 |
G |
T |
16: 36,775,678 (GRCm39) |
A171S |
probably damaging |
Het |
Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
Hydin |
G |
T |
8: 111,137,096 (GRCm39) |
C633F |
probably damaging |
Het |
Ica1 |
A |
T |
6: 8,644,145 (GRCm39) |
D381E |
probably benign |
Het |
Ift74 |
A |
G |
4: 94,541,234 (GRCm39) |
K220E |
probably benign |
Het |
Igfn1 |
A |
T |
1: 135,882,600 (GRCm39) |
D2748E |
probably benign |
Het |
Il16 |
A |
C |
7: 83,300,104 (GRCm39) |
D396E |
probably benign |
Het |
Impdh1 |
G |
T |
6: 29,205,201 (GRCm39) |
A200E |
possibly damaging |
Het |
Itga4 |
C |
T |
2: 79,144,054 (GRCm39) |
T647I |
possibly damaging |
Het |
Jpt1 |
A |
T |
11: 115,391,497 (GRCm39) |
M104K |
probably benign |
Het |
Krt73 |
C |
A |
15: 101,702,436 (GRCm39) |
A476S |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,546,828 (GRCm39) |
Y363H |
probably damaging |
Het |
Lgr4 |
C |
T |
2: 109,827,027 (GRCm39) |
P177L |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,312,608 (GRCm39) |
D2560G |
probably damaging |
Het |
Ly6m |
T |
C |
15: 74,752,532 (GRCm39) |
N48S |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,270,295 (GRCm39) |
F6617I |
probably damaging |
Het |
Mcf2l |
T |
A |
8: 13,068,051 (GRCm39) |
|
probably null |
Het |
Mcub |
T |
A |
3: 129,763,600 (GRCm39) |
Q42L |
probably damaging |
Het |
Mfsd9 |
C |
T |
1: 40,820,700 (GRCm39) |
V150I |
possibly damaging |
Het |
Myo15b |
T |
C |
11: 115,770,478 (GRCm39) |
V96A |
probably damaging |
Het |
Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
Or10aa3 |
T |
G |
1: 173,878,244 (GRCm39) |
Y102D |
probably damaging |
Het |
Or10g6 |
T |
C |
9: 39,933,994 (GRCm39) |
F102L |
possibly damaging |
Het |
Or1r1 |
A |
G |
11: 73,875,221 (GRCm39) |
V71A |
probably benign |
Het |
Pgap6 |
T |
C |
17: 26,340,515 (GRCm39) |
V633A |
probably damaging |
Het |
Pinlyp |
T |
A |
7: 24,241,568 (GRCm39) |
I153F |
possibly damaging |
Het |
Plk2 |
A |
C |
13: 110,534,307 (GRCm39) |
M296L |
probably benign |
Het |
Plvap |
T |
C |
8: 71,960,630 (GRCm39) |
Y262C |
probably benign |
Het |
Ppfia3 |
C |
A |
7: 44,990,581 (GRCm39) |
G1066V |
probably damaging |
Het |
Prokr1 |
A |
G |
6: 87,565,842 (GRCm39) |
M1T |
probably null |
Het |
Ptgs2 |
G |
T |
1: 149,981,138 (GRCm39) |
A474S |
probably benign |
Het |
Pth2r |
A |
G |
1: 65,427,676 (GRCm39) |
T450A |
possibly damaging |
Het |
Ranbp6 |
A |
T |
19: 29,789,037 (GRCm39) |
F438L |
probably damaging |
Het |
Ripor1 |
A |
T |
8: 106,341,622 (GRCm39) |
Q102L |
probably damaging |
Het |
Rprd2 |
C |
T |
3: 95,694,686 (GRCm39) |
V116I |
probably benign |
Het |
Sacs |
T |
C |
14: 61,449,258 (GRCm39) |
V3768A |
probably damaging |
Het |
Scn8a |
T |
C |
15: 100,913,832 (GRCm39) |
Y1075H |
probably damaging |
Het |
Senp3 |
C |
T |
11: 69,569,063 (GRCm39) |
G366D |
probably damaging |
Het |
Smim1 |
T |
C |
4: 154,108,107 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
A |
G |
2: 29,886,447 (GRCm39) |
I817V |
probably damaging |
Het |
Stag3 |
A |
T |
5: 138,307,461 (GRCm39) |
|
probably benign |
Het |
Stk17b |
A |
T |
1: 53,810,867 (GRCm39) |
H79Q |
probably damaging |
Het |
Svil |
A |
G |
18: 5,088,813 (GRCm39) |
K1296E |
probably damaging |
Het |
Tmem117 |
T |
A |
15: 94,992,331 (GRCm39) |
Y330* |
probably null |
Het |
Tnxb |
G |
T |
17: 34,890,917 (GRCm39) |
R420L |
probably damaging |
Het |
Trim9 |
C |
A |
12: 70,393,845 (GRCm39) |
C33F |
probably damaging |
Het |
Usp29 |
A |
C |
7: 6,965,747 (GRCm39) |
Y530S |
probably benign |
Het |
Vps26b |
T |
C |
9: 26,921,752 (GRCm39) |
T258A |
possibly damaging |
Het |
Vrtn |
C |
A |
12: 84,695,600 (GRCm39) |
H117N |
probably damaging |
Het |
Wdr33 |
C |
T |
18: 32,014,301 (GRCm39) |
H388Y |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,821,186 (GRCm39) |
V222D |
possibly damaging |
Het |
Zfp953 |
A |
G |
13: 67,491,193 (GRCm39) |
I253T |
probably benign |
Het |
Zfy2 |
A |
G |
Y: 2,116,194 (GRCm39) |
V282A |
probably benign |
Het |
Zscan29 |
A |
T |
2: 120,999,805 (GRCm39) |
V132D |
probably damaging |
Het |
Zswim4 |
G |
T |
8: 84,963,586 (GRCm39) |
D16E |
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 |
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 |
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'- GCTCATTTCCCAGTTGGTGTAC -3'
(R):5'- GGCGAGTATCAGAGAGACACTC -3'
Sequencing Primer
(F):5'- CATTTCCCAGTTGGTGTACCTGTG -3'
(R):5'- AAGGAAGGAGTGTAGTTAGTTTTTAC -3'
|
Posted On |
2015-12-29 |