Incidental Mutation 'R5628:Fnip1'
ID |
441941 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fnip1
|
Ensembl Gene |
ENSMUSG00000035992 |
Gene Name |
folliculin interacting protein 1 |
Synonyms |
A730024A03Rik |
MMRRC Submission |
043167-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.793)
|
Stock # |
R5628 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
54329025-54409061 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 54394459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 965
(D965V)
|
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: D965V
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000049026 Gene: ENSMUSG00000035992 AA Change: D965V
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
A |
G |
8: 41,208,747 (GRCm39) |
D671G |
probably benign |
Het |
Ap3b1 |
A |
G |
13: 94,613,556 (GRCm39) |
D685G |
unknown |
Het |
Atp6v1h |
G |
A |
1: 5,206,112 (GRCm39) |
W358* |
probably null |
Het |
Atr |
T |
A |
9: 95,756,279 (GRCm39) |
Y830* |
probably null |
Het |
B3galnt2 |
A |
T |
13: 14,169,737 (GRCm39) |
|
probably null |
Het |
Casz1 |
T |
C |
4: 149,030,553 (GRCm39) |
Y1191H |
probably damaging |
Het |
Cdc40 |
T |
G |
10: 40,727,049 (GRCm39) |
E169D |
probably benign |
Het |
Cep55 |
C |
T |
19: 38,058,396 (GRCm39) |
Q330* |
probably null |
Het |
Clcn1 |
T |
C |
6: 42,275,823 (GRCm39) |
V315A |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,226,218 (GRCm39) |
F2957L |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dync1li2 |
T |
C |
8: 105,147,224 (GRCm39) |
N490S |
possibly damaging |
Het |
Ephb3 |
T |
C |
16: 21,036,869 (GRCm39) |
Y111H |
probably damaging |
Het |
Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 15,877,392 (GRCm39) |
Y3407C |
probably damaging |
Het |
Fbxw8 |
A |
G |
5: 118,230,622 (GRCm39) |
V393A |
probably damaging |
Het |
Gramd2a |
T |
C |
9: 59,615,006 (GRCm39) |
M3T |
probably benign |
Het |
Kctd15 |
T |
C |
7: 34,339,720 (GRCm39) |
D283G |
probably damaging |
Het |
Kif9 |
C |
T |
9: 110,343,621 (GRCm39) |
R547* |
probably null |
Het |
Map4 |
A |
G |
9: 109,910,915 (GRCm39) |
T245A |
probably benign |
Het |
Mindy4 |
C |
T |
6: 55,237,579 (GRCm39) |
L385F |
probably damaging |
Het |
Myo7b |
A |
G |
18: 32,107,240 (GRCm39) |
C1252R |
probably benign |
Het |
Myt1l |
T |
A |
12: 29,861,620 (GRCm39) |
I134N |
unknown |
Het |
Or5m10b |
T |
A |
2: 85,699,149 (GRCm39) |
I71N |
probably damaging |
Het |
Osgin2 |
T |
A |
4: 15,998,998 (GRCm39) |
N208I |
probably benign |
Het |
Polr2b |
G |
A |
5: 77,461,063 (GRCm39) |
V29M |
probably damaging |
Het |
Prdm15 |
T |
A |
16: 97,600,823 (GRCm39) |
M812L |
probably damaging |
Het |
Prr36 |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
8: 4,266,273 (GRCm39) |
|
probably benign |
Het |
Rev3l |
T |
A |
10: 39,698,963 (GRCm39) |
N1153K |
probably damaging |
Het |
Rnf17 |
A |
G |
14: 56,724,409 (GRCm39) |
|
probably null |
Het |
Rusc2 |
C |
T |
4: 43,425,348 (GRCm39) |
T1151M |
probably damaging |
Het |
Scrib |
T |
C |
15: 75,921,389 (GRCm39) |
T30A |
possibly damaging |
Het |
Sephs1 |
T |
C |
2: 4,894,018 (GRCm39) |
I73T |
probably benign |
Het |
Sf3b1 |
C |
T |
1: 55,037,334 (GRCm39) |
A861T |
probably benign |
Het |
Shq1 |
A |
G |
6: 100,607,964 (GRCm39) |
W316R |
probably damaging |
Het |
Slc26a5 |
T |
A |
5: 22,021,974 (GRCm39) |
D484V |
probably benign |
Het |
Smg1 |
C |
T |
7: 117,753,924 (GRCm39) |
|
probably benign |
Het |
Stard5 |
T |
C |
7: 83,282,355 (GRCm39) |
I56T |
probably benign |
Het |
Szt2 |
A |
G |
4: 118,230,414 (GRCm39) |
V2653A |
unknown |
Het |
Tmem217 |
A |
T |
17: 29,745,430 (GRCm39) |
I100N |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,748,470 (GRCm39) |
R1400Q |
probably benign |
Het |
Vmn1r82 |
T |
G |
7: 12,039,205 (GRCm39) |
N41K |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,675,247 (GRCm39) |
D367G |
probably damaging |
Het |
Zfyve1 |
A |
T |
12: 83,621,663 (GRCm39) |
V244E |
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 |
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'- CAGCAGGACCAGAGGAATTC -3'
(R):5'- CTCCAGAAAGGACGATGTGG -3'
Sequencing Primer
(F):5'- AGGAATTCCCTCTCCATTCTTG -3'
(R):5'- CATGAGGCTTTTTACTGCAGAGCC -3'
|
Posted On |
2016-11-08 |