Incidental Mutation 'R5369:Fnip1'
ID |
429559 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fnip1
|
Ensembl Gene |
ENSMUSG00000035992 |
Gene Name |
folliculin interacting protein 1 |
Synonyms |
A730024A03Rik |
MMRRC Submission |
042946-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.790)
|
Stock # |
R5369 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
54329025-54409061 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 54393415 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 593
(V593A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121399
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046835]
[ENSMUST00000143650]
|
AlphaFold |
Q68FD7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046835
AA Change: V617A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000049026 Gene: ENSMUSG00000035992 AA Change: V617A
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: V593A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121399 Gene: ENSMUSG00000035992 AA Change: V593A
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
99% (77/78) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,545,796 (GRCm39) |
T444A |
probably damaging |
Het |
A330070K13Rik |
G |
A |
5: 130,407,932 (GRCm39) |
|
probably benign |
Het |
Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
Acbd5 |
T |
A |
2: 23,002,522 (GRCm39) |
L508Q |
probably damaging |
Het |
Asb15 |
T |
C |
6: 24,562,563 (GRCm39) |
V175A |
probably benign |
Het |
B3galnt2 |
T |
C |
13: 14,169,010 (GRCm39) |
|
probably null |
Het |
BC024139 |
A |
C |
15: 76,004,422 (GRCm39) |
S711R |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,984,526 (GRCm39) |
I508T |
probably damaging |
Het |
Btnl6 |
T |
A |
17: 34,726,959 (GRCm39) |
R524* |
probably null |
Het |
C3 |
C |
A |
17: 57,528,159 (GRCm39) |
D687Y |
probably benign |
Het |
Ccbe1 |
G |
A |
18: 66,194,485 (GRCm39) |
A367V |
probably benign |
Het |
Ccr1 |
A |
T |
9: 123,764,326 (GRCm39) |
M68K |
probably damaging |
Het |
Cd27 |
T |
A |
6: 125,211,327 (GRCm39) |
|
probably benign |
Het |
Celf2 |
C |
A |
2: 7,085,892 (GRCm39) |
|
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,897,119 (GRCm39) |
|
probably benign |
Het |
Cfap97 |
A |
G |
8: 46,622,687 (GRCm39) |
K26E |
probably damaging |
Het |
Clcn4 |
T |
A |
7: 7,299,032 (GRCm39) |
I48F |
probably benign |
Het |
Cnot7 |
A |
T |
8: 40,947,061 (GRCm39) |
N238K |
probably benign |
Het |
Colec12 |
A |
G |
18: 9,866,750 (GRCm39) |
I654V |
unknown |
Het |
Dip2a |
A |
G |
10: 76,128,194 (GRCm39) |
I22T |
probably damaging |
Het |
Eif4g3 |
C |
T |
4: 137,910,645 (GRCm39) |
T1375M |
possibly damaging |
Het |
Eml5 |
C |
T |
12: 98,825,042 (GRCm39) |
G725D |
probably damaging |
Het |
F12 |
T |
C |
13: 55,566,304 (GRCm39) |
E496G |
probably benign |
Het |
Fam227a |
A |
T |
15: 79,499,637 (GRCm39) |
S573T |
probably benign |
Het |
Focad |
T |
A |
4: 88,039,610 (GRCm39) |
|
probably benign |
Het |
Frem1 |
A |
G |
4: 82,919,976 (GRCm39) |
I460T |
possibly damaging |
Het |
Galnt10 |
T |
G |
11: 57,656,573 (GRCm39) |
|
probably null |
Het |
Gm5592 |
A |
T |
7: 40,867,635 (GRCm39) |
|
probably benign |
Het |
Gm6185 |
A |
T |
1: 161,037,330 (GRCm39) |
|
noncoding transcript |
Het |
Gm7935 |
A |
T |
15: 73,952,963 (GRCm39) |
|
noncoding transcript |
Het |
Grb14 |
C |
T |
2: 64,747,653 (GRCm39) |
V369I |
probably benign |
Het |
Gstm5 |
G |
A |
3: 107,805,782 (GRCm39) |
A198T |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,832,448 (GRCm39) |
V3048D |
probably damaging |
Het |
Htra4 |
T |
G |
8: 25,523,585 (GRCm39) |
I327L |
possibly damaging |
Het |
Ifi209 |
T |
C |
1: 173,464,873 (GRCm39) |
M1T |
probably null |
Het |
Ints6 |
T |
C |
14: 62,981,384 (GRCm39) |
T135A |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,496,385 (GRCm39) |
I2604N |
probably damaging |
Het |
Krt6a |
T |
A |
15: 101,600,993 (GRCm39) |
M268L |
probably benign |
Het |
Lrp1b |
G |
T |
2: 40,894,625 (GRCm39) |
S2201* |
probably null |
Het |
Lrp2 |
T |
C |
2: 69,289,904 (GRCm39) |
N3645S |
probably benign |
Het |
Lrrc15 |
A |
T |
16: 30,091,722 (GRCm39) |
I539N |
possibly damaging |
Het |
Map3k6 |
T |
C |
4: 132,974,992 (GRCm39) |
I675T |
probably damaging |
Het |
Map3k9 |
T |
A |
12: 81,768,826 (GRCm39) |
E1074V |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,862,075 (GRCm39) |
S339R |
probably benign |
Het |
Mrps18a |
T |
C |
17: 46,436,552 (GRCm39) |
|
probably benign |
Het |
Mtcl2 |
T |
C |
2: 156,882,654 (GRCm39) |
E466G |
probably damaging |
Het |
Nat8f2 |
G |
T |
6: 85,844,854 (GRCm39) |
Y169* |
probably null |
Het |
Nlrp1b |
A |
G |
11: 71,072,625 (GRCm39) |
I406T |
probably benign |
Het |
Npc1l1 |
A |
G |
11: 6,167,705 (GRCm39) |
|
probably null |
Het |
Or10z1 |
A |
G |
1: 174,078,007 (GRCm39) |
V162A |
probably damaging |
Het |
Or5ac20 |
A |
T |
16: 59,104,743 (GRCm39) |
M39K |
probably damaging |
Het |
Ostf1 |
C |
T |
19: 18,558,689 (GRCm39) |
G198E |
probably benign |
Het |
Pcsk5 |
A |
G |
19: 17,558,619 (GRCm39) |
V596A |
probably damaging |
Het |
Pde4c |
T |
C |
8: 71,202,754 (GRCm39) |
*647Q |
probably null |
Het |
Pkm |
A |
T |
9: 59,577,917 (GRCm39) |
I245F |
probably damaging |
Het |
Prss3b |
T |
A |
6: 41,009,940 (GRCm39) |
R131S |
probably benign |
Het |
Ptprj |
T |
C |
2: 90,299,985 (GRCm39) |
H179R |
probably benign |
Het |
Rapgef2 |
A |
T |
3: 78,976,739 (GRCm39) |
S1356T |
probably benign |
Het |
Rbm45 |
T |
A |
2: 76,200,594 (GRCm39) |
L41Q |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Scel |
A |
T |
14: 103,823,929 (GRCm39) |
I386F |
probably benign |
Het |
Serpinb5 |
A |
T |
1: 106,809,487 (GRCm39) |
N298Y |
possibly damaging |
Het |
Sirt3 |
A |
T |
7: 140,449,406 (GRCm39) |
L180Q |
probably damaging |
Het |
Slc24a2 |
C |
T |
4: 86,909,625 (GRCm39) |
V698I |
probably damaging |
Het |
Slc43a3 |
A |
T |
2: 84,788,067 (GRCm39) |
H483L |
probably damaging |
Het |
Snrnp35 |
A |
G |
5: 124,628,262 (GRCm39) |
D25G |
probably benign |
Het |
Snrnp40 |
T |
C |
4: 130,256,439 (GRCm39) |
S55P |
probably damaging |
Het |
Snx9 |
T |
A |
17: 5,970,855 (GRCm39) |
C399S |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,655,743 (GRCm39) |
|
probably benign |
Het |
Vmn1r1 |
A |
G |
1: 181,985,341 (GRCm39) |
V108A |
possibly damaging |
Het |
Vmn1r201 |
T |
A |
13: 22,659,672 (GRCm39) |
N295K |
probably benign |
Het |
Zfp292 |
G |
A |
4: 34,807,491 (GRCm39) |
P1851L |
possibly damaging |
Het |
Zfp472 |
A |
T |
17: 33,196,717 (GRCm39) |
D264V |
probably damaging |
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 |
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'- CCATTGTTATGCCAGGCACAG -3'
(R):5'- AACACACATTTGTCGGCTGGAG -3'
Sequencing Primer
(F):5'- GTTATGCCAGGCACAGTGATTAC -3'
(R):5'- CAAACAACTGTCTCTAACTTGGTGTC -3'
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Posted On |
2016-09-06 |