Incidental Mutation 'R0278:Fnip1'
| ID |
24482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnip1
|
| Ensembl Gene |
ENSMUSG00000035992 |
| Gene Name |
folliculin interacting protein 1 |
| Synonyms |
A730024A03Rik |
| MMRRC Submission |
038500-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.790)
|
| Stock # |
R0278 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
54329025-54409061 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 54380169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046835]
[ENSMUST00000143650]
|
| AlphaFold |
Q68FD7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046835
|
| SMART Domains |
Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
| 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 null
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: 98.8%
- 3x: 97.8%
- 10x: 95.4%
- 20x: 90.7%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,328,215 (GRCm39) |
S3429R |
probably damaging |
Het |
| Abca3 |
A |
G |
17: 24,600,894 (GRCm39) |
D436G |
probably benign |
Het |
| Acacb |
C |
A |
5: 114,371,320 (GRCm39) |
Y1816* |
probably null |
Het |
| Acer3 |
T |
C |
7: 97,910,804 (GRCm39) |
Y86C |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,754,872 (GRCm39) |
I657V |
probably benign |
Het |
| Akap1 |
A |
G |
11: 88,736,020 (GRCm39) |
V214A |
probably benign |
Het |
| Ankrd42 |
T |
C |
7: 92,280,865 (GRCm39) |
R22G |
possibly damaging |
Het |
| Apc2 |
C |
T |
10: 80,148,647 (GRCm39) |
P1234S |
possibly damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,273,652 (GRCm39) |
I441T |
probably damaging |
Het |
| Cenpu |
G |
A |
8: 47,031,344 (GRCm39) |
A242T |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,644,487 (GRCm39) |
V1267E |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,094,516 (GRCm39) |
T58A |
probably benign |
Het |
| Ddx6 |
T |
G |
9: 44,542,722 (GRCm39) |
C385G |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,543,305 (GRCm39) |
N2288K |
probably benign |
Het |
| Egfl8 |
A |
T |
17: 34,833,342 (GRCm39) |
|
probably null |
Het |
| Elmo2 |
A |
T |
2: 165,139,287 (GRCm39) |
I420N |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,665,248 (GRCm39) |
F113L |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,525,409 (GRCm39) |
|
probably null |
Het |
| Fbxl13 |
A |
G |
5: 21,728,908 (GRCm39) |
V456A |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,863,592 (GRCm39) |
|
probably null |
Het |
| Fkbpl |
A |
T |
17: 34,864,384 (GRCm39) |
R51* |
probably null |
Het |
| Fn3krp |
G |
A |
11: 121,312,406 (GRCm39) |
V40M |
probably damaging |
Het |
| Gm15446 |
A |
T |
5: 110,091,281 (GRCm39) |
Q511L |
probably benign |
Het |
| Gm7334 |
A |
G |
17: 51,006,289 (GRCm39) |
K192E |
probably damaging |
Het |
| H2-Q10 |
A |
T |
17: 35,784,204 (GRCm39) |
T282S |
possibly damaging |
Het |
| Hspa9 |
A |
G |
18: 35,073,963 (GRCm39) |
V482A |
possibly damaging |
Het |
| Ica1l |
A |
T |
1: 60,053,155 (GRCm39) |
S128T |
probably benign |
Het |
| Il7r |
A |
T |
15: 9,516,423 (GRCm39) |
I126K |
probably damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,516,074 (GRCm39) |
E11G |
probably benign |
Het |
| Klkb1 |
A |
C |
8: 45,725,446 (GRCm39) |
F498V |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,117,178 (GRCm39) |
E2491G |
probably null |
Het |
| Lhfpl2 |
T |
C |
13: 94,310,943 (GRCm39) |
V71A |
probably benign |
Het |
| Lin9 |
T |
C |
1: 180,493,488 (GRCm39) |
I198T |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,885,432 (GRCm39) |
M431L |
possibly damaging |
Het |
| Nmt2 |
A |
G |
2: 3,326,424 (GRCm39) |
T519A |
probably benign |
Het |
| Or10w1 |
C |
A |
19: 13,632,128 (GRCm39) |
L112I |
probably damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,129 (GRCm39) |
L112H |
probably damaging |
Het |
| Or1d2 |
T |
C |
11: 74,256,028 (GRCm39) |
F178L |
probably damaging |
Het |
| Or4a74 |
G |
T |
2: 89,440,108 (GRCm39) |
L113M |
probably damaging |
Het |
| Or4a74 |
A |
T |
2: 89,440,107 (GRCm39) |
L113Q |
probably damaging |
Het |
| Or5al7 |
A |
T |
2: 85,992,923 (GRCm39) |
Y123* |
probably null |
Het |
| Or7h8 |
G |
T |
9: 20,124,182 (GRCm39) |
C179F |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,844,980 (GRCm39) |
R624G |
probably damaging |
Het |
| Pex16 |
C |
T |
2: 92,211,401 (GRCm39) |
P325S |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,493,902 (GRCm39) |
M288T |
possibly damaging |
Het |
| Pla2g5 |
C |
T |
4: 138,527,967 (GRCm39) |
D100N |
probably benign |
Het |
| Prss43 |
T |
A |
9: 110,656,430 (GRCm39) |
M39K |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,284,450 (GRCm39) |
S105P |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,000,816 (GRCm39) |
S969T |
probably benign |
Het |
| Rad23b |
T |
A |
4: 55,383,575 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rpl10l |
A |
G |
12: 66,331,130 (GRCm39) |
M1T |
probably null |
Het |
| Sec16a |
A |
G |
2: 26,318,328 (GRCm39) |
S1588P |
probably damaging |
Het |
| Sh3rf1 |
A |
T |
8: 61,827,052 (GRCm39) |
H602L |
probably damaging |
Het |
| Sparcl1 |
A |
T |
5: 104,236,263 (GRCm39) |
S497T |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,929,537 (GRCm39) |
Y365C |
probably benign |
Het |
| Trim5 |
T |
C |
7: 103,928,882 (GRCm39) |
N20D |
probably benign |
Het |
| Vmn1r201 |
G |
T |
13: 22,659,194 (GRCm39) |
W136L |
probably damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,821,987 (GRCm39) |
I222V |
probably benign |
Het |
| Vmn2r56 |
A |
T |
7: 12,449,644 (GRCm39) |
V198D |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,569 (GRCm39) |
D477G |
possibly damaging |
Het |
| Zfp202 |
C |
A |
9: 40,119,778 (GRCm39) |
H194N |
probably benign |
Het |
| Zfp212 |
C |
T |
6: 47,903,453 (GRCm39) |
R13W |
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 |
|
|
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 |
|
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'- TTGCGATTTAAAAGGAGCAACATCCAC -3'
(R):5'- TGTCCTGACTAAGCCTAAGATGATGGT -3'
Sequencing Primer
(F):5'- GAGCAACATCCACCTCAATAGTAATG -3'
(R):5'- tgcaaccccatactgtcatc -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation