Incidental Mutation 'R4762:Fnip1'
ID |
356976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fnip1
|
Ensembl Gene |
ENSMUSG00000035992 |
Gene Name |
folliculin interacting protein 1 |
Synonyms |
A730024A03Rik |
MMRRC Submission |
042403-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.793)
|
Stock # |
R4762 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
54329025-54409061 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 54390352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 440
(T440S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046835]
[ENSMUST00000143650]
|
AlphaFold |
Q68FD7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046835
AA Change: T440S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000049026 Gene: ENSMUSG00000035992 AA Change: T440S
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
AA Change: T416S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000121399 Gene: ENSMUSG00000035992 AA Change: T416S
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 |
0.0876 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
100% (86/86) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012P17Rik |
T |
C |
1: 158,797,126 (GRCm39) |
|
noncoding transcript |
Het |
2310030G06Rik |
T |
C |
9: 50,651,967 (GRCm39) |
E87G |
probably damaging |
Het |
Aknad1 |
A |
T |
3: 108,682,547 (GRCm39) |
H541L |
possibly damaging |
Het |
Asb15 |
A |
G |
6: 24,567,236 (GRCm39) |
E519G |
possibly damaging |
Het |
Atad2 |
T |
C |
15: 57,971,758 (GRCm39) |
D373G |
probably benign |
Het |
Bbs12 |
G |
A |
3: 37,374,529 (GRCm39) |
V326M |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,936,484 (GRCm39) |
I2617T |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,454,581 (GRCm39) |
T115A |
probably benign |
Het |
Casz1 |
T |
C |
4: 149,023,438 (GRCm39) |
L495P |
probably damaging |
Het |
Ccdc30 |
T |
A |
4: 119,190,785 (GRCm39) |
I481F |
probably damaging |
Het |
Cept1 |
A |
T |
3: 106,446,677 (GRCm39) |
Y56* |
probably null |
Het |
Cfap54 |
A |
C |
10: 92,897,315 (GRCm39) |
|
probably null |
Het |
Cyp2j8 |
G |
T |
4: 96,358,886 (GRCm39) |
D344E |
probably damaging |
Het |
Dido1 |
A |
T |
2: 180,331,368 (GRCm39) |
W27R |
probably damaging |
Het |
Disp3 |
A |
G |
4: 148,356,575 (GRCm39) |
I95T |
probably damaging |
Het |
Engase |
G |
T |
11: 118,377,920 (GRCm39) |
V237F |
possibly damaging |
Het |
Ephb6 |
G |
A |
6: 41,595,094 (GRCm39) |
E703K |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,879,477 (GRCm39) |
H2431Q |
probably benign |
Het |
Fzd4 |
A |
T |
7: 89,056,924 (GRCm39) |
T324S |
probably damaging |
Het |
Gm10192 |
C |
G |
4: 97,071,345 (GRCm39) |
S20T |
probably null |
Het |
Gpr84 |
A |
T |
15: 103,217,027 (GRCm39) |
V350E |
probably damaging |
Het |
Gsto2 |
T |
C |
19: 47,863,312 (GRCm39) |
Y63H |
probably damaging |
Het |
Gtpbp6 |
T |
C |
5: 110,252,186 (GRCm39) |
T449A |
probably damaging |
Het |
Herc2 |
G |
A |
7: 55,820,388 (GRCm39) |
V2876I |
probably benign |
Het |
Hnrnpa3 |
A |
G |
2: 75,492,351 (GRCm39) |
I152V |
possibly damaging |
Het |
Hpse2 |
T |
C |
19: 42,777,510 (GRCm39) |
D552G |
possibly damaging |
Het |
Itfg1 |
A |
G |
8: 86,459,070 (GRCm39) |
V460A |
possibly damaging |
Het |
Jhy |
G |
A |
9: 40,822,494 (GRCm39) |
A548V |
probably benign |
Het |
Klhl21 |
T |
A |
4: 152,094,268 (GRCm39) |
L290Q |
possibly damaging |
Het |
Knl1 |
T |
C |
2: 118,902,417 (GRCm39) |
S1373P |
probably benign |
Het |
Kpna2 |
A |
C |
11: 106,881,085 (GRCm39) |
M426R |
probably benign |
Het |
Krt9 |
C |
T |
11: 100,081,675 (GRCm39) |
V285I |
probably damaging |
Het |
Lpar1 |
T |
G |
4: 58,437,346 (GRCm39) |
H361P |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,349,237 (GRCm39) |
T2100A |
probably benign |
Het |
Mfsd13b |
T |
C |
7: 120,590,549 (GRCm39) |
F97L |
probably damaging |
Het |
Mmp15 |
A |
G |
8: 96,098,958 (GRCm39) |
K595R |
probably benign |
Het |
Mrps25 |
C |
T |
6: 92,152,085 (GRCm39) |
G145D |
probably damaging |
Het |
Muc4 |
T |
A |
16: 32,574,916 (GRCm39) |
|
probably benign |
Het |
Napa |
A |
T |
7: 15,849,196 (GRCm39) |
K245N |
probably benign |
Het |
Or10p1 |
C |
A |
10: 129,444,043 (GRCm39) |
M102I |
probably damaging |
Het |
Or14c39 |
A |
G |
7: 86,344,329 (GRCm39) |
T222A |
probably benign |
Het |
Or2y1c |
A |
T |
11: 49,361,112 (GRCm39) |
I45F |
probably damaging |
Het |
Or4g17 |
G |
A |
2: 111,210,082 (GRCm39) |
V246M |
probably damaging |
Het |
Or4k39 |
T |
A |
2: 111,239,225 (GRCm39) |
|
noncoding transcript |
Het |
Or5au1 |
T |
A |
14: 52,272,921 (GRCm39) |
I216F |
possibly damaging |
Het |
Or8c20 |
A |
G |
9: 38,260,577 (GRCm39) |
Y60C |
probably damaging |
Het |
Or8k35 |
A |
G |
2: 86,424,381 (GRCm39) |
S264P |
possibly damaging |
Het |
Papss2 |
A |
T |
19: 32,616,378 (GRCm39) |
T195S |
probably benign |
Het |
Parp4 |
T |
A |
14: 56,848,267 (GRCm39) |
H694Q |
probably damaging |
Het |
Patj |
C |
T |
4: 98,293,807 (GRCm39) |
R20* |
probably null |
Het |
Pcdhgb8 |
T |
A |
18: 37,895,419 (GRCm39) |
V163E |
probably damaging |
Het |
Pkd2l1 |
T |
A |
19: 44,144,060 (GRCm39) |
T338S |
probably benign |
Het |
Ppargc1b |
A |
T |
18: 61,444,328 (GRCm39) |
S278R |
possibly damaging |
Het |
Ppl |
T |
C |
16: 4,906,846 (GRCm39) |
T1150A |
probably benign |
Het |
Ralgds |
A |
G |
2: 28,442,164 (GRCm39) |
D858G |
probably damaging |
Het |
Rassf2 |
G |
A |
2: 131,844,783 (GRCm39) |
|
probably benign |
Het |
Ring1 |
T |
C |
17: 34,240,971 (GRCm39) |
|
probably benign |
Het |
Rusc1 |
A |
C |
3: 88,998,949 (GRCm39) |
S278A |
probably benign |
Het |
Samd9l |
T |
C |
6: 3,375,623 (GRCm39) |
N546S |
probably benign |
Het |
Sct |
A |
C |
7: 140,858,954 (GRCm39) |
|
probably benign |
Het |
Slc22a12 |
T |
G |
19: 6,588,474 (GRCm39) |
H348P |
probably benign |
Het |
Slc25a15 |
A |
G |
8: 22,873,248 (GRCm39) |
S143P |
probably damaging |
Het |
Slc26a11 |
C |
A |
11: 119,247,657 (GRCm39) |
|
probably benign |
Het |
Slc6a20b |
A |
G |
9: 123,427,625 (GRCm39) |
M428T |
probably damaging |
Het |
Smim17 |
G |
A |
7: 6,432,321 (GRCm39) |
V88M |
probably damaging |
Het |
Smoc1 |
G |
T |
12: 81,214,425 (GRCm39) |
W269L |
probably damaging |
Het |
Sox5 |
C |
T |
6: 143,807,109 (GRCm39) |
|
probably null |
Het |
Sp100 |
A |
G |
1: 85,629,179 (GRCm39) |
*483W |
probably null |
Het |
Sptbn5 |
T |
A |
2: 119,907,703 (GRCm39) |
|
noncoding transcript |
Het |
Sun5 |
G |
A |
2: 153,707,283 (GRCm39) |
R132* |
probably null |
Het |
Tedc2 |
A |
G |
17: 24,435,354 (GRCm39) |
V345A |
probably benign |
Het |
Tlr6 |
T |
A |
5: 65,111,739 (GRCm39) |
R389S |
probably benign |
Het |
Ttc17 |
G |
T |
2: 94,202,113 (GRCm39) |
H396Q |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,773,383 (GRCm39) |
S2340P |
probably damaging |
Het |
Vmn1r219 |
C |
T |
13: 23,346,999 (GRCm39) |
Q63* |
probably null |
Het |
Vmn1r224 |
A |
G |
17: 20,639,902 (GRCm39) |
T160A |
possibly damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,195,436 (GRCm39) |
N630S |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,109,549 (GRCm39) |
C80S |
possibly damaging |
Het |
Zfp747 |
A |
G |
7: 126,973,498 (GRCm39) |
V224A |
possibly damaging |
Het |
Zfp804b |
T |
C |
5: 6,822,250 (GRCm39) |
N271S |
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 |
54,356,997 (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'- TGCCACTAGCTGATGGTAAAG -3'
(R):5'- TGGATCATCTTAGGATAGCTTAGCC -3'
Sequencing Primer
(F):5'- GAAAGTCTTCAGTTGGCAGTATAGC -3'
(R):5'- GCCTTCAATGCAGACACA -3'
|
Posted On |
2015-11-11 |