Incidental Mutation 'R7939:Fnip1'
ID |
648952 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fnip1
|
Ensembl Gene |
ENSMUSG00000035992 |
Gene Name |
folliculin interacting protein 1 |
Synonyms |
A730024A03Rik |
MMRRC Submission |
045985-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.790)
|
Stock # |
R7939 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
54329025-54409061 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 54393093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 510
(Y510H)
|
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: Y510H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049026 Gene: ENSMUSG00000035992 AA Change: Y510H
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: Y486H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121399 Gene: ENSMUSG00000035992 AA Change: Y486H
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
G |
8: 87,275,433 (GRCm39) |
I415T |
probably damaging |
Het |
Ackr3 |
A |
G |
1: 90,142,287 (GRCm39) |
S249G |
probably benign |
Het |
Adgre1 |
G |
T |
17: 57,756,938 (GRCm39) |
A732S |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,991,448 (GRCm39) |
L4244* |
probably null |
Het |
Aldh3a2 |
C |
A |
11: 61,115,424 (GRCm39) |
C511F |
probably benign |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Ankrd11 |
A |
T |
8: 123,617,812 (GRCm39) |
H2013Q |
probably damaging |
Het |
Atp5mc3 |
A |
G |
2: 73,740,206 (GRCm39) |
|
probably null |
Het |
Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
Chtf18 |
A |
T |
17: 25,941,111 (GRCm39) |
I629N |
probably damaging |
Het |
Clstn3 |
T |
C |
6: 124,439,158 (GRCm39) |
Y33C |
probably damaging |
Het |
Cmc2 |
T |
C |
8: 117,616,513 (GRCm39) |
R71G |
unknown |
Het |
Cts7 |
A |
T |
13: 61,504,364 (GRCm39) |
N66K |
probably damaging |
Het |
Cysltr2 |
C |
T |
14: 73,267,399 (GRCm39) |
V104I |
possibly damaging |
Het |
Dnai4 |
G |
A |
4: 102,953,798 (GRCm39) |
Q134* |
probably null |
Het |
Dnm3 |
C |
T |
1: 162,123,165 (GRCm39) |
V460I |
possibly damaging |
Het |
Ecel1 |
C |
T |
1: 87,077,256 (GRCm39) |
V651I |
probably benign |
Het |
Ext2 |
G |
A |
2: 93,560,601 (GRCm39) |
R522C |
probably damaging |
Het |
Farp2 |
T |
C |
1: 93,487,983 (GRCm39) |
L70P |
probably damaging |
Het |
Gm15446 |
T |
C |
5: 110,090,360 (GRCm39) |
V204A |
probably benign |
Het |
Gm29394 |
T |
C |
15: 57,912,046 (GRCm39) |
K53E |
unknown |
Het |
Gm39115 |
T |
C |
7: 141,689,768 (GRCm39) |
T2A |
unknown |
Het |
Helz2 |
A |
G |
2: 180,879,543 (GRCm39) |
W692R |
probably damaging |
Het |
Htra2 |
A |
T |
6: 83,028,545 (GRCm39) |
Y428N |
probably damaging |
Het |
Khdrbs2 |
T |
A |
1: 32,212,056 (GRCm39) |
S20T |
probably benign |
Het |
Kifap3 |
C |
A |
1: 163,643,427 (GRCm39) |
Y217* |
probably null |
Het |
Mast2 |
A |
T |
4: 116,287,668 (GRCm39) |
S136T |
probably benign |
Het |
Mesp1 |
C |
T |
7: 79,442,734 (GRCm39) |
W181* |
probably null |
Het |
Mtch1 |
A |
C |
17: 29,559,806 (GRCm39) |
S158A |
probably damaging |
Het |
Mtmr10 |
C |
A |
7: 63,963,899 (GRCm39) |
S211R |
probably benign |
Het |
Mtmr9 |
C |
A |
14: 63,771,973 (GRCm39) |
Q204H |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,097,182 (GRCm39) |
N43D |
|
Het |
Myom3 |
G |
T |
4: 135,534,589 (GRCm39) |
|
probably null |
Het |
Neb |
T |
C |
2: 52,076,073 (GRCm39) |
D5903G |
probably damaging |
Het |
Niban1 |
T |
G |
1: 151,581,775 (GRCm39) |
L457R |
probably damaging |
Het |
Noxred1 |
A |
G |
12: 87,268,105 (GRCm39) |
V342A |
probably benign |
Het |
Nsd2 |
T |
A |
5: 34,012,933 (GRCm39) |
S421R |
probably benign |
Het |
Or10a3 |
T |
C |
7: 108,480,481 (GRCm39) |
I111V |
probably benign |
Het |
Or5p55 |
T |
A |
7: 107,566,986 (GRCm39) |
C127* |
probably null |
Het |
Oxa1l |
T |
C |
14: 54,604,876 (GRCm39) |
C270R |
probably benign |
Het |
Pcdha3 |
T |
A |
18: 37,080,933 (GRCm39) |
N558K |
probably damaging |
Het |
Pcdha7 |
T |
C |
18: 37,109,063 (GRCm39) |
V696A |
possibly damaging |
Het |
Pigl |
T |
C |
11: 62,349,506 (GRCm39) |
L74P |
probably damaging |
Het |
Plch2 |
G |
T |
4: 155,087,235 (GRCm39) |
R339S |
possibly damaging |
Het |
Prdm11 |
G |
T |
2: 92,843,074 (GRCm39) |
D128E |
probably damaging |
Het |
Ptdss1 |
A |
G |
13: 67,143,411 (GRCm39) |
T415A |
probably benign |
Het |
Ptprj |
A |
T |
2: 90,295,009 (GRCm39) |
W400R |
probably damaging |
Het |
Qdpr |
T |
C |
5: 45,607,407 (GRCm39) |
Y13C |
probably damaging |
Het |
Retsat |
G |
A |
6: 72,581,919 (GRCm39) |
M355I |
probably benign |
Het |
Slc24a1 |
T |
G |
9: 64,835,648 (GRCm39) |
E826D |
probably benign |
Het |
Taok3 |
T |
C |
5: 117,331,902 (GRCm39) |
F40L |
probably benign |
Het |
Tecta |
T |
C |
9: 42,299,519 (GRCm39) |
T190A |
probably damaging |
Het |
Tmem220 |
C |
A |
11: 66,920,850 (GRCm39) |
T85K |
probably damaging |
Het |
Traip |
T |
C |
9: 107,833,077 (GRCm39) |
F38L |
probably benign |
Het |
Tspan1 |
A |
T |
4: 116,024,209 (GRCm39) |
I18N |
probably damaging |
Het |
Ttc24 |
A |
T |
3: 87,981,945 (GRCm39) |
D40E |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,542,737 (GRCm39) |
Y33416* |
probably null |
Het |
Ttn |
A |
T |
2: 76,576,105 (GRCm39) |
D24929E |
probably damaging |
Het |
Vmn2r16 |
T |
A |
5: 109,487,705 (GRCm39) |
S193T |
possibly damaging |
Het |
Vmn2r83 |
T |
A |
10: 79,314,651 (GRCm39) |
W300R |
probably damaging |
Het |
Vps13a |
C |
T |
19: 16,718,155 (GRCm39) |
V522M |
possibly damaging |
Het |
Wdr17 |
C |
A |
8: 55,140,677 (GRCm39) |
R232L |
probably damaging |
Het |
Wtap |
A |
T |
17: 13,200,683 (GRCm39) |
Y33* |
probably null |
Het |
Zc3h10 |
A |
T |
10: 128,380,376 (GRCm39) |
V327E |
probably damaging |
Het |
Zfp658 |
T |
C |
7: 43,224,301 (GRCm39) |
S859P |
possibly damaging |
Het |
Zfp874b |
A |
T |
13: 67,622,622 (GRCm39) |
C225* |
probably null |
Het |
Zfp980 |
A |
T |
4: 145,428,582 (GRCm39) |
H437L |
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 |
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 |
|
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'- ACAGCTGTTTAGAAACACAGC -3'
(R):5'- TAGTAATCACTGTGCCTGGC -3'
Sequencing Primer
(F):5'- AACAAAACCTGTTCACCTTTCTC -3'
(R):5'- CTGTGCCTGGCATAACAATG -3'
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Posted On |
2020-09-15 |