Incidental Mutation 'R2010:Fnip1'
| ID |
219518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnip1
|
| Ensembl Gene |
ENSMUSG00000035992 |
| Gene Name |
folliculin interacting protein 1 |
| Synonyms |
A730024A03Rik |
| MMRRC Submission |
040019-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.793)
|
| Stock # |
R2010 (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 G
at 54373329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 180
(D180G)
|
| 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: D180G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
AA Change: D180G
| 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: D156G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992
AA Change: D156G
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
G |
A |
3: 36,535,955 (GRCm39) |
G74S |
unknown |
Het |
| Aimp1 |
A |
T |
3: 132,373,253 (GRCm39) |
L229Q |
probably benign |
Het |
| Arhgef6 |
T |
C |
X: 56,344,865 (GRCm39) |
T52A |
possibly damaging |
Het |
| Aste1 |
C |
A |
9: 105,280,701 (GRCm39) |
H25Q |
probably damaging |
Het |
| Atp13a1 |
G |
A |
8: 70,244,010 (GRCm39) |
G36R |
possibly damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,163,604 (GRCm39) |
V634A |
probably damaging |
Het |
| Bltp1 |
T |
G |
3: 36,982,700 (GRCm39) |
N788K |
probably benign |
Het |
| C1s1 |
A |
T |
6: 124,514,353 (GRCm39) |
Y168N |
probably damaging |
Het |
| Camsap2 |
T |
C |
1: 136,202,606 (GRCm39) |
S612G |
probably damaging |
Het |
| Cdh23 |
C |
A |
10: 60,150,006 (GRCm39) |
R2611L |
probably damaging |
Het |
| Cfap20dc |
A |
T |
14: 8,511,021 (GRCm38) |
F464L |
probably damaging |
Het |
| Cilp2 |
A |
G |
8: 70,334,344 (GRCm39) |
Y885H |
probably damaging |
Het |
| Dhrs3 |
C |
T |
4: 144,653,758 (GRCm39) |
T227I |
possibly damaging |
Het |
| Dnah2 |
A |
T |
11: 69,349,184 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
G |
7: 119,694,400 (GRCm39) |
M1L |
probably benign |
Het |
| Ehbp1l1 |
A |
G |
19: 5,769,311 (GRCm39) |
I664T |
probably benign |
Het |
| Eif4e |
C |
T |
3: 138,261,219 (GRCm39) |
T171I |
probably benign |
Het |
| Elfn1 |
C |
T |
5: 139,959,071 (GRCm39) |
R692W |
probably damaging |
Het |
| Eps8l3 |
T |
A |
3: 107,786,688 (GRCm39) |
M1K |
probably null |
Het |
| Evi5 |
C |
A |
5: 107,961,411 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
A |
T |
6: 113,570,252 (GRCm39) |
D1401V |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,144,653 (GRCm39) |
R4074C |
probably damaging |
Het |
| Fkbp4 |
A |
T |
6: 128,412,765 (GRCm39) |
V55E |
probably benign |
Het |
| Galc |
A |
G |
12: 98,220,489 (GRCm39) |
F126S |
possibly damaging |
Het |
| Gdf7 |
C |
T |
12: 8,351,729 (GRCm39) |
V69M |
unknown |
Het |
| Glis2 |
A |
G |
16: 4,426,575 (GRCm39) |
E22G |
probably damaging |
Het |
| H2bc3 |
G |
A |
13: 23,931,111 (GRCm39) |
V112M |
possibly damaging |
Het |
| Hps4 |
T |
A |
5: 112,517,342 (GRCm39) |
V243E |
probably damaging |
Het |
| Ighe |
T |
A |
12: 113,235,108 (GRCm39) |
I351F |
unknown |
Het |
| Irak4 |
A |
T |
15: 94,449,687 (GRCm39) |
R55S |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,129,022 (GRCm39) |
|
probably null |
Het |
| Katnip |
A |
G |
7: 125,472,128 (GRCm39) |
I1544M |
possibly damaging |
Het |
| Kirrel3 |
T |
C |
9: 34,850,494 (GRCm39) |
Y41H |
probably damaging |
Het |
| Krr1 |
A |
G |
10: 111,811,474 (GRCm39) |
E56G |
possibly damaging |
Het |
| Lgi1 |
G |
A |
19: 38,289,683 (GRCm39) |
V250I |
probably damaging |
Het |
| Lipf |
A |
G |
19: 33,950,946 (GRCm39) |
N306D |
probably benign |
Het |
| Lman2l |
C |
T |
1: 36,484,262 (GRCm39) |
W18* |
probably null |
Het |
| Lztfl1 |
T |
A |
9: 123,531,251 (GRCm39) |
N239I |
possibly damaging |
Het |
| Mief1 |
T |
C |
15: 80,132,126 (GRCm39) |
S66P |
possibly damaging |
Het |
| Mmp8 |
C |
A |
9: 7,567,535 (GRCm39) |
S465* |
probably null |
Het |
| Muc2 |
A |
T |
7: 141,287,444 (GRCm39) |
T208S |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,187,990 (GRCm39) |
K921* |
probably null |
Het |
| Myh9 |
T |
C |
15: 77,656,147 (GRCm39) |
E1121G |
probably benign |
Het |
| Nbn |
T |
C |
4: 15,969,393 (GRCm39) |
S213P |
probably damaging |
Het |
| Nol10 |
A |
G |
12: 17,466,102 (GRCm39) |
E499G |
probably benign |
Het |
| Nxn |
T |
C |
11: 76,289,627 (GRCm39) |
E87G |
probably damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,811 (GRCm39) |
T314A |
probably benign |
Het |
| Or51f2 |
T |
A |
7: 102,526,892 (GRCm39) |
C188* |
probably null |
Het |
| Or8g23 |
T |
C |
9: 38,971,395 (GRCm39) |
H189R |
probably benign |
Het |
| Pds5b |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
5: 150,698,819 (GRCm39) |
|
probably benign |
Het |
| Pigk |
A |
G |
3: 152,472,151 (GRCm39) |
I354M |
probably damaging |
Het |
| Pigl |
T |
A |
11: 62,349,508 (GRCm39) |
C75S |
probably damaging |
Het |
| Pm20d1 |
T |
A |
1: 131,739,852 (GRCm39) |
I400N |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,172,664 (GRCm39) |
H17L |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,003,719 (GRCm39) |
L168Q |
probably damaging |
Het |
| Rab3gap2 |
A |
T |
1: 185,010,478 (GRCm39) |
H1136L |
possibly damaging |
Het |
| Rb1 |
T |
C |
14: 73,532,433 (GRCm39) |
T134A |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,367,220 (GRCm39) |
E1024G |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,861,376 (GRCm39) |
V977A |
probably benign |
Het |
| Rusc2 |
C |
T |
4: 43,415,212 (GRCm39) |
P173S |
probably benign |
Het |
| Selenov |
A |
T |
7: 27,987,447 (GRCm39) |
D310E |
probably damaging |
Het |
| Serpina3f |
T |
A |
12: 104,183,582 (GRCm39) |
L148Q |
probably damaging |
Het |
| Slc10a1 |
C |
T |
12: 81,007,221 (GRCm39) |
V187I |
probably benign |
Het |
| Spsb2 |
A |
G |
6: 124,787,339 (GRCm39) |
K258E |
probably damaging |
Het |
| Tas2r105 |
A |
C |
6: 131,664,365 (GRCm39) |
V21G |
probably benign |
Het |
| Tmem229b-ps |
T |
A |
10: 53,351,295 (GRCm39) |
|
noncoding transcript |
Het |
| Tnrc6a |
C |
G |
7: 122,770,269 (GRCm39) |
H686Q |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,743,780 (GRCm39) |
F715L |
probably benign |
Het |
| Ube2t |
T |
A |
1: 134,897,036 (GRCm39) |
I56N |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,207,963 (GRCm39) |
Y4915H |
possibly damaging |
Het |
| Usp32 |
T |
A |
11: 84,930,830 (GRCm39) |
E533D |
probably damaging |
Het |
| Vipr2 |
T |
G |
12: 116,086,430 (GRCm39) |
|
probably null |
Het |
| Vmn1r15 |
A |
G |
6: 57,235,269 (GRCm39) |
T46A |
probably benign |
Het |
| Vmn1r203 |
T |
G |
13: 22,708,617 (GRCm39) |
S133A |
possibly damaging |
Het |
| Vmn1r215 |
T |
G |
13: 23,260,378 (GRCm39) |
N139K |
probably damaging |
Het |
| Vmn1r232 |
C |
T |
17: 21,133,601 (GRCm39) |
R333H |
probably benign |
Het |
| Wdr20rt |
C |
A |
12: 65,273,988 (GRCm39) |
H311N |
possibly damaging |
Het |
| Zranb1 |
T |
C |
7: 132,568,425 (GRCm39) |
|
probably null |
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 |
|
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'- GCCTTCAGGTACAGCTTACTAAC -3'
(R):5'- ACCATTAGAAGCTCTTGGGTTATAC -3'
Sequencing Primer
(F):5'- AGGTTTCATAGTGATCTTTTCATTCC -3'
(R):5'- CACCTACCTATATTTCCAAGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation