Incidental Mutation 'R7664:Fnip1'
| ID |
591804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnip1
|
| Ensembl Gene |
ENSMUSG00000035992 |
| Gene Name |
folliculin interacting protein 1 |
| Synonyms |
A730024A03Rik |
| MMRRC Submission |
045704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.790)
|
| Stock # |
R7664 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
54329025-54409061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54356951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 44
(L44P)
|
| 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: L44P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
AA Change: L44P
| 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: L20P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992
AA Change: L20P
| 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: 99.0%
|
| Validation Efficiency |
99% (83/84) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
C |
T |
11: 84,136,175 (GRCm39) |
T510I |
probably damaging |
Het |
| Akap12 |
G |
T |
10: 4,303,748 (GRCm39) |
W291L |
probably damaging |
Het |
| Akip1 |
A |
T |
7: 109,308,187 (GRCm39) |
I152F |
probably benign |
Het |
| Alpk2 |
T |
A |
18: 65,440,073 (GRCm39) |
Y440F |
probably benign |
Het |
| Aox3 |
A |
G |
1: 58,158,698 (GRCm39) |
T90A |
probably damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,436,390 (GRCm39) |
E228V |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,647,626 (GRCm39) |
K405E |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,117,377 (GRCm39) |
E247G |
probably damaging |
Het |
| Camkk2 |
A |
T |
5: 122,894,645 (GRCm39) |
F216I |
unknown |
Het |
| Carm1 |
A |
C |
9: 21,498,286 (GRCm39) |
K430T |
probably benign |
Het |
| Ccdc13 |
A |
G |
9: 121,643,279 (GRCm39) |
V374A |
probably benign |
Het |
| Cdh26 |
T |
A |
2: 178,111,835 (GRCm39) |
M465K |
probably benign |
Het |
| Ceacam10 |
A |
T |
7: 24,477,757 (GRCm39) |
M91L |
probably benign |
Het |
| Chrnb1 |
T |
C |
11: 69,677,850 (GRCm39) |
T301A |
possibly damaging |
Het |
| Clec4a3 |
A |
G |
6: 122,943,381 (GRCm39) |
D101G |
probably benign |
Het |
| Cmss1 |
G |
A |
16: 57,138,310 (GRCm39) |
P59S |
probably benign |
Het |
| Crhr1 |
T |
A |
11: 104,059,968 (GRCm39) |
F138L |
probably benign |
Het |
| Cxcl5 |
A |
T |
5: 90,907,890 (GRCm39) |
I107F |
probably damaging |
Het |
| Cxcr1 |
A |
G |
1: 74,231,834 (GRCm39) |
S63P |
probably damaging |
Het |
| Cxcr5 |
A |
G |
9: 44,424,607 (GRCm39) |
L350P |
probably benign |
Het |
| D5Ertd579e |
A |
T |
5: 36,771,961 (GRCm39) |
H811Q |
probably benign |
Het |
| Ddx46 |
T |
G |
13: 55,806,864 (GRCm39) |
I499S |
probably damaging |
Het |
| Ddx51 |
T |
G |
5: 110,804,785 (GRCm39) |
|
probably null |
Het |
| Dnaja1 |
C |
T |
4: 40,724,090 (GRCm39) |
P84S |
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,153,132 (GRCm39) |
K203E |
possibly damaging |
Het |
| Fam107b |
T |
A |
2: 3,571,747 (GRCm39) |
C24S |
probably damaging |
Het |
| Fancg |
T |
C |
4: 43,010,066 (GRCm39) |
K11R |
probably benign |
Het |
| Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
| Heca |
A |
T |
10: 17,778,118 (GRCm39) |
L493Q |
probably damaging |
Het |
| Hrh2 |
C |
T |
13: 54,368,875 (GRCm39) |
P284S |
probably damaging |
Het |
| Ifnar1 |
C |
G |
16: 91,292,082 (GRCm39) |
A141G |
probably damaging |
Het |
| Igkv6-32 |
T |
A |
6: 70,051,282 (GRCm39) |
T25S |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,479,304 (GRCm39) |
H525R |
probably damaging |
Het |
| Itga2b |
A |
G |
11: 102,351,666 (GRCm39) |
L553P |
probably damaging |
Het |
| Itgbl1 |
A |
G |
14: 124,083,962 (GRCm39) |
Y280C |
probably damaging |
Het |
| Kap |
T |
C |
6: 133,828,920 (GRCm39) |
I54V |
probably benign |
Het |
| Kcnh4 |
G |
T |
11: 100,641,148 (GRCm39) |
L434M |
probably damaging |
Het |
| Klhl14 |
T |
C |
18: 21,687,706 (GRCm39) |
D572G |
probably damaging |
Het |
| Klhl41 |
T |
A |
2: 69,501,061 (GRCm39) |
L174Q |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,337,076 (GRCm39) |
H1232P |
probably damaging |
Het |
| Lyar |
A |
G |
5: 38,388,161 (GRCm39) |
E229G |
probably benign |
Het |
| Mark4 |
A |
T |
7: 19,177,151 (GRCm39) |
L226Q |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,685,453 (GRCm39) |
K823R |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,748,212 (GRCm39) |
S218T |
probably benign |
Het |
| Mlip |
A |
T |
9: 77,045,828 (GRCm39) |
I884N |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,953,689 (GRCm39) |
T657A |
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,355,376 (GRCm39) |
Y799H |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,519,018 (GRCm39) |
I6304N |
probably benign |
Het |
| Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
| Naaladl2 |
T |
C |
3: 24,112,303 (GRCm39) |
Y593C |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,289,154 (GRCm39) |
E341G |
probably damaging |
Het |
| Nrg1 |
G |
T |
8: 32,499,169 (GRCm39) |
|
probably null |
Het |
| Nudt3 |
A |
G |
17: 27,842,149 (GRCm39) |
L4P |
probably benign |
Het |
| Odf2l |
T |
A |
3: 144,854,345 (GRCm39) |
H493Q |
probably benign |
Het |
| Ost4 |
A |
C |
5: 31,065,007 (GRCm39) |
|
probably null |
Het |
| Patj |
A |
T |
4: 98,385,187 (GRCm39) |
Q840L |
possibly damaging |
Het |
| Pcdh20 |
T |
A |
14: 88,706,803 (GRCm39) |
T166S |
probably benign |
Het |
| Pcdhb4 |
T |
A |
18: 37,442,293 (GRCm39) |
D534E |
probably damaging |
Het |
| Pik3ap1 |
T |
C |
19: 41,310,069 (GRCm39) |
D417G |
possibly damaging |
Het |
| Ppwd1 |
A |
T |
13: 104,356,798 (GRCm39) |
V239E |
probably damaging |
Het |
| Prdm9 |
T |
A |
17: 15,775,833 (GRCm39) |
Y206F |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,789,476 (GRCm39) |
V292A |
possibly damaging |
Het |
| Rgs21 |
T |
A |
1: 144,416,987 (GRCm39) |
M22L |
probably benign |
Het |
| Rnf17 |
A |
T |
14: 56,676,335 (GRCm39) |
I399F |
probably damaging |
Het |
| Rph3a |
T |
A |
5: 121,099,339 (GRCm39) |
Q184L |
probably benign |
Het |
| Scrn3 |
T |
C |
2: 73,149,714 (GRCm39) |
Y137H |
possibly damaging |
Het |
| Sec14l4 |
C |
A |
11: 3,994,178 (GRCm39) |
Y342* |
probably null |
Het |
| Serpinb11 |
G |
A |
1: 107,307,718 (GRCm39) |
G383D |
probably damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,026,626 (GRCm39) |
V1261A |
probably damaging |
Het |
| Sh3tc2 |
C |
T |
18: 62,148,042 (GRCm39) |
Q1251* |
probably null |
Het |
| Skor1 |
A |
T |
9: 63,049,045 (GRCm39) |
D845E |
probably benign |
Het |
| Slc39a7 |
A |
G |
17: 34,248,551 (GRCm39) |
L364P |
probably damaging |
Het |
| Snrpn |
T |
C |
7: 59,637,239 (GRCm39) |
I26V |
probably benign |
Het |
| Snx5 |
A |
T |
2: 144,099,924 (GRCm39) |
|
probably null |
Het |
| Spag9 |
T |
C |
11: 93,992,986 (GRCm39) |
|
probably null |
Het |
| Srrm2 |
T |
C |
17: 24,039,955 (GRCm39) |
S2200P |
probably damaging |
Het |
| Stx11 |
T |
C |
10: 12,817,070 (GRCm39) |
E218G |
probably damaging |
Het |
| Tmem151b |
T |
C |
17: 45,856,861 (GRCm39) |
N193S |
probably damaging |
Het |
| Tmem87b |
A |
T |
2: 128,690,974 (GRCm39) |
D525V |
possibly damaging |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,782 (GRCm39) |
R103S |
possibly damaging |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,932 (GRCm39) |
D190E |
probably damaging |
Het |
| Vmn2r67 |
T |
A |
7: 84,805,019 (GRCm39) |
D31V |
probably benign |
Het |
| Zbtb22 |
T |
A |
17: 34,137,553 (GRCm39) |
M566K |
probably benign |
Het |
| Zfp568 |
A |
T |
7: 29,721,715 (GRCm39) |
H220L |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,610,137 (GRCm39) |
S529R |
possibly 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 |
|
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 |
|
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'- AGCCTTGACCCACATAGTAGC -3'
(R):5'- CTCGAAATTAGGACTCTGAATTCAG -3'
Sequencing Primer
(F):5'- CTTGACCCACATAGTAGCATTTTAC -3'
(R):5'- GATCAATGATGCTCACCG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation