Incidental Mutation 'R8429:Fnip1'
| ID |
653661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnip1
|
| Ensembl Gene |
ENSMUSG00000035992 |
| Gene Name |
folliculin interacting protein 1 |
| Synonyms |
A730024A03Rik |
| MMRRC Submission |
067774-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.793)
|
| Stock # |
R8429 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
54329025-54409061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54366522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 95
(D95V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046835]
[ENSMUST00000143650]
|
| AlphaFold |
Q68FD7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046835
AA Change: D95V
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
AA Change: D95V
| 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 |
possibly damaging
Transcript: ENSMUST00000143650
AA Change: D71V
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992
AA Change: D71V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
T |
17: 48,347,875 (GRCm39) |
L143* |
probably null |
Het |
| 2900026A02Rik |
T |
C |
5: 113,331,302 (GRCm39) |
T971A |
probably benign |
Het |
| Abca6 |
A |
T |
11: 110,093,208 (GRCm39) |
C1022S |
probably benign |
Het |
| Adgrf4 |
G |
T |
17: 42,978,340 (GRCm39) |
N334K |
probably benign |
Het |
| Baz1b |
A |
G |
5: 135,246,185 (GRCm39) |
K545E |
probably benign |
Het |
| Bin3 |
A |
G |
14: 70,374,598 (GRCm39) |
Y209C |
probably damaging |
Het |
| Btbd16 |
G |
A |
7: 130,397,067 (GRCm39) |
A223T |
probably benign |
Het |
| C3 |
A |
G |
17: 57,529,811 (GRCm39) |
V555A |
probably damaging |
Het |
| Calm3 |
T |
A |
7: 16,653,592 (GRCm39) |
|
probably null |
Het |
| Cct4 |
T |
A |
11: 22,946,030 (GRCm39) |
L124Q |
probably damaging |
Het |
| Cenpf |
C |
T |
1: 189,389,504 (GRCm39) |
D1443N |
possibly damaging |
Het |
| Egfem1 |
G |
A |
3: 29,711,417 (GRCm39) |
|
probably null |
Het |
| Epha4 |
G |
T |
1: 77,366,673 (GRCm39) |
Q591K |
probably benign |
Het |
| Fanci |
T |
C |
7: 79,088,133 (GRCm39) |
F929L |
possibly damaging |
Het |
| Foxc1 |
A |
T |
13: 31,991,759 (GRCm39) |
H190L |
probably benign |
Het |
| Gm45713 |
T |
C |
7: 44,785,540 (GRCm39) |
S2G |
unknown |
Het |
| Grin2b |
T |
C |
6: 135,710,914 (GRCm39) |
I877M |
probably damaging |
Het |
| Hadha |
T |
C |
5: 30,349,255 (GRCm39) |
I119V |
probably benign |
Het |
| Hcar2 |
C |
T |
5: 124,003,538 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
C |
A |
6: 145,110,949 (GRCm39) |
D251E |
probably damaging |
Het |
| Krt13 |
A |
T |
11: 100,011,951 (GRCm39) |
L124Q |
probably damaging |
Het |
| Larp1b |
A |
G |
3: 40,931,662 (GRCm39) |
*336W |
probably null |
Het |
| Man2c1 |
T |
C |
9: 57,038,445 (GRCm39) |
L35P |
probably damaging |
Het |
| Meioc |
A |
T |
11: 102,565,032 (GRCm39) |
N160I |
probably benign |
Het |
| Mfsd2b |
G |
T |
12: 4,916,487 (GRCm39) |
Q331K |
possibly damaging |
Het |
| Mical2 |
T |
A |
7: 111,944,460 (GRCm39) |
V930E |
probably benign |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,173 (GRCm39) |
F252I |
probably benign |
Het |
| Nars1 |
A |
G |
18: 64,634,391 (GRCm39) |
Y511H |
probably damaging |
Het |
| Naxe |
C |
A |
3: 87,965,459 (GRCm39) |
S84I |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,386,523 (GRCm39) |
D634V |
probably damaging |
Het |
| Npat |
C |
T |
9: 53,481,909 (GRCm39) |
Q1206* |
probably null |
Het |
| Nr1d2 |
G |
A |
14: 18,215,409 (GRCm38) |
T201I |
probably benign |
Het |
| Nt5el |
A |
G |
13: 105,255,296 (GRCm39) |
Y459C |
probably damaging |
Het |
| Nup155 |
C |
T |
15: 8,141,904 (GRCm39) |
H99Y |
probably damaging |
Het |
| Or10ag60 |
G |
T |
2: 87,437,868 (GRCm39) |
L45F |
probably benign |
Het |
| Or4f4b |
G |
A |
2: 111,313,840 (GRCm39) |
V50I |
possibly damaging |
Het |
| Or5ac25 |
A |
G |
16: 59,181,990 (GRCm39) |
V197A |
possibly damaging |
Het |
| Or9k2b |
A |
G |
10: 130,016,092 (GRCm39) |
V219A |
possibly damaging |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Pde6a |
T |
A |
18: 61,365,916 (GRCm39) |
Y214N |
probably damaging |
Het |
| Pex7 |
T |
C |
10: 19,770,074 (GRCm39) |
T145A |
probably damaging |
Het |
| Plekhj1 |
C |
T |
10: 80,632,304 (GRCm39) |
S146N |
probably benign |
Het |
| Ralgapb |
C |
T |
2: 158,268,217 (GRCm39) |
P107S |
probably damaging |
Het |
| Satb1 |
A |
G |
17: 52,074,978 (GRCm39) |
M506T |
probably damaging |
Het |
| Sh3gl1 |
T |
C |
17: 56,325,821 (GRCm39) |
N203D |
possibly damaging |
Het |
| Slc7a12 |
A |
T |
3: 14,562,342 (GRCm39) |
I240F |
probably benign |
Het |
| Spata31h1 |
G |
T |
10: 82,125,301 (GRCm39) |
Q2570K |
possibly damaging |
Het |
| Syt17 |
T |
A |
7: 118,033,564 (GRCm39) |
Y144F |
probably benign |
Het |
| Thbd |
G |
T |
2: 148,249,457 (GRCm39) |
T137K |
possibly damaging |
Het |
| Tmem114 |
A |
G |
16: 8,230,031 (GRCm39) |
F124L |
probably damaging |
Het |
| Ubtd1 |
G |
T |
19: 42,020,556 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
A |
G |
13: 67,406,152 (GRCm39) |
Y96H |
possibly damaging |
Het |
| Zfp78 |
T |
C |
7: 6,381,492 (GRCm39) |
S181P |
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 |
|
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 |
|
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'- TCCAAATAGTACTGGAGGTGC -3'
(R):5'- AATTACGCTTCAGGGAGGTAC -3'
Sequencing Primer
(F):5'- GCTGCCTTCCAAATATTACTGGAGG -3'
(R):5'- CTTCAGGGAGGTACAGTCAAGTTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation