Incidental Mutation 'R1917:Fnip1'
| ID |
212626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnip1
|
| Ensembl Gene |
ENSMUSG00000035992 |
| Gene Name |
folliculin interacting protein 1 |
| Synonyms |
A730024A03Rik |
| MMRRC Submission |
039935-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.793)
|
| Stock # |
R1917 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
54329025-54409061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 54371510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 177
(T177I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046835]
[ENSMUST00000143650]
|
| AlphaFold |
Q68FD7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046835
AA Change: T177I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
AA Change: T177I
| 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: T153I
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992
AA Change: T153I
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.8%
- 20x: 93.6%
|
| Validation Efficiency |
100% (83/83) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,982,341 (GRCm39) |
|
probably benign |
Het |
| Adgre5 |
A |
G |
8: 84,455,738 (GRCm39) |
V190A |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,151,395 (GRCm39) |
N1153S |
probably benign |
Het |
| Aldh1a7 |
G |
A |
19: 20,704,819 (GRCm39) |
H20Y |
probably benign |
Het |
| B430306N03Rik |
A |
G |
17: 48,631,176 (GRCm39) |
E278G |
probably benign |
Het |
| Cacna1b |
C |
A |
2: 24,506,891 (GRCm39) |
R72L |
probably null |
Het |
| Cc2d2a |
C |
G |
5: 43,863,564 (GRCm39) |
S675R |
probably damaging |
Het |
| Ccdc88b |
T |
A |
19: 6,826,594 (GRCm39) |
E1040D |
probably damaging |
Het |
| Cmtm7 |
A |
G |
9: 114,592,432 (GRCm39) |
V55A |
probably damaging |
Het |
| Coq4 |
A |
C |
2: 29,679,938 (GRCm39) |
T77P |
probably damaging |
Het |
| Cyp2j11 |
C |
A |
4: 96,228,211 (GRCm39) |
W136L |
probably damaging |
Het |
| Dctn2 |
T |
A |
10: 127,110,918 (GRCm39) |
Y86* |
probably null |
Het |
| Ddx56 |
A |
G |
11: 6,213,937 (GRCm39) |
|
probably null |
Het |
| Dop1b |
T |
C |
16: 93,513,150 (GRCm39) |
S30P |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,851,441 (GRCm39) |
K1347R |
unknown |
Het |
| Fat3 |
T |
A |
9: 15,908,353 (GRCm39) |
T2550S |
possibly damaging |
Het |
| Fcrla |
G |
T |
1: 170,755,095 (GRCm39) |
C5* |
probably null |
Het |
| Fem1al |
A |
G |
11: 29,774,039 (GRCm39) |
S473P |
probably benign |
Het |
| Fermt1 |
T |
A |
2: 132,764,762 (GRCm39) |
D365V |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,123,022 (GRCm39) |
|
probably benign |
Het |
| Fhod3 |
A |
G |
18: 25,218,658 (GRCm39) |
D807G |
probably benign |
Het |
| Gart |
T |
C |
16: 91,425,037 (GRCm39) |
Y662C |
probably damaging |
Het |
| Gda |
A |
T |
19: 21,375,004 (GRCm39) |
|
probably benign |
Het |
| Gk |
A |
G |
X: 84,804,186 (GRCm39) |
I85T |
probably damaging |
Het |
| Gm3476 |
A |
G |
14: 6,118,358 (GRCm38) |
L255P |
possibly damaging |
Het |
| Gm9966 |
T |
C |
7: 95,607,684 (GRCm39) |
C2R |
unknown |
Het |
| Gnpda1 |
T |
C |
18: 38,466,243 (GRCm39) |
|
probably null |
Het |
| Gtf2h4 |
G |
A |
17: 35,981,090 (GRCm39) |
L246F |
possibly damaging |
Het |
| Hao1 |
A |
T |
2: 134,364,980 (GRCm39) |
S216T |
probably benign |
Het |
| Hnrnpr |
C |
A |
4: 136,059,799 (GRCm39) |
S301* |
probably null |
Het |
| Hsd3b2 |
A |
G |
3: 98,619,342 (GRCm39) |
I201T |
probably benign |
Het |
| Jade2 |
T |
C |
11: 51,709,365 (GRCm39) |
E548G |
possibly damaging |
Het |
| Katnbl1 |
T |
C |
2: 112,239,524 (GRCm39) |
I241T |
probably benign |
Het |
| Keap1 |
G |
T |
9: 21,145,102 (GRCm39) |
Q299K |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,946,753 (GRCm39) |
I1650V |
possibly damaging |
Het |
| Lrba |
G |
A |
3: 86,571,808 (GRCm39) |
G275R |
probably damaging |
Het |
| Map3k9 |
C |
A |
12: 81,827,564 (GRCm39) |
E29* |
probably null |
Het |
| Mat1a |
G |
A |
14: 40,843,394 (GRCm39) |
V307I |
probably damaging |
Het |
| Mcm2 |
A |
T |
6: 88,868,785 (GRCm39) |
M324K |
possibly damaging |
Het |
| Metap1d |
T |
C |
2: 71,341,871 (GRCm39) |
V155A |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,428,073 (GRCm39) |
|
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,307,349 (GRCm39) |
T231A |
probably benign |
Het |
| Mylk4 |
A |
T |
13: 32,908,836 (GRCm39) |
D90E |
probably benign |
Het |
| Myo15b |
T |
A |
11: 115,773,080 (GRCm39) |
I1837K |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,296,733 (GRCm39) |
H242Q |
probably damaging |
Het |
| Nxn |
A |
G |
11: 76,152,498 (GRCm39) |
|
probably benign |
Het |
| Or6c2 |
T |
A |
10: 129,362,918 (GRCm39) |
V274D |
probably damaging |
Het |
| Pak3 |
C |
A |
X: 142,574,298 (GRCm39) |
A553E |
possibly damaging |
Het |
| Pdia2 |
T |
A |
17: 26,417,079 (GRCm39) |
T122S |
possibly damaging |
Het |
| Pira12 |
C |
T |
7: 3,900,637 (GRCm39) |
V38M |
probably damaging |
Het |
| Plod2 |
A |
G |
9: 92,463,310 (GRCm39) |
T132A |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,035,039 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
A |
C |
4: 11,601,693 (GRCm39) |
N416T |
probably damaging |
Het |
| Recql4 |
A |
T |
15: 76,588,037 (GRCm39) |
Y1142* |
probably null |
Het |
| Rnf216 |
A |
G |
5: 142,978,561 (GRCm39) |
V859A |
probably benign |
Het |
| Scnm1 |
G |
T |
3: 95,037,584 (GRCm39) |
P161T |
possibly damaging |
Het |
| Serpinb6b |
A |
G |
13: 33,162,223 (GRCm39) |
I222V |
probably benign |
Het |
| Serpinf1 |
A |
G |
11: 75,301,833 (GRCm39) |
I274T |
possibly damaging |
Het |
| Slc28a1 |
T |
C |
7: 80,819,334 (GRCm39) |
F641L |
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 15,886,845 (GRCm39) |
I657V |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,714,232 (GRCm39) |
I877T |
possibly damaging |
Het |
| Spata31 |
T |
C |
13: 65,068,679 (GRCm39) |
Y276H |
possibly damaging |
Het |
| Spire2 |
A |
G |
8: 124,089,810 (GRCm39) |
D447G |
probably benign |
Het |
| Stk3 |
G |
A |
15: 35,073,363 (GRCm39) |
T119I |
probably damaging |
Het |
| Stxbp5 |
C |
A |
10: 9,688,042 (GRCm39) |
V420F |
possibly damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,404,609 (GRCm39) |
F282S |
probably damaging |
Het |
| Syk |
A |
T |
13: 52,776,744 (GRCm39) |
D248V |
probably damaging |
Het |
| Thoc6 |
C |
T |
17: 23,888,364 (GRCm39) |
|
probably benign |
Het |
| Timd5 |
A |
G |
11: 46,419,358 (GRCm39) |
D58G |
possibly damaging |
Het |
| Tll2 |
T |
A |
19: 41,116,936 (GRCm39) |
D293V |
possibly damaging |
Het |
| Umodl1 |
G |
A |
17: 31,203,017 (GRCm39) |
V457M |
probably damaging |
Het |
| Usp19 |
T |
A |
9: 108,376,524 (GRCm39) |
C689* |
probably null |
Het |
| Usp24 |
T |
G |
4: 106,267,483 (GRCm39) |
V1955G |
probably damaging |
Het |
| Vmn1r226 |
T |
C |
17: 20,907,842 (GRCm39) |
S25P |
probably damaging |
Het |
| Vmn2r69 |
C |
T |
7: 85,060,891 (GRCm39) |
C231Y |
probably damaging |
Het |
| Wdr73 |
C |
T |
7: 80,543,081 (GRCm39) |
D176N |
probably benign |
Het |
| Wnt7b |
T |
A |
15: 85,443,281 (GRCm39) |
I41F |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,682,880 (GRCm39) |
S3440P |
unknown |
Het |
| Zfp52 |
T |
G |
17: 21,780,426 (GRCm39) |
N91K |
probably benign |
Het |
| Zfp930 |
C |
A |
8: 69,681,357 (GRCm39) |
Q350K |
probably benign |
Het |
| Zfp949 |
T |
C |
9: 88,452,115 (GRCm39) |
S562P |
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 |
|
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 |
|
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'- GATGTTGTCATGAAATCTCTGCAAC -3'
(R):5'- CTAGGATGGAGATGTGCTCAAC -3'
Sequencing Primer
(F):5'- CTGTGTTCTTTCATAGCTCG -3'
(R):5'- GCTCAACATTTTGCTTCTAACAAACC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation