Incidental Mutation 'R7943:Fnip1'
| ID |
649174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnip1
|
| Ensembl Gene |
ENSMUSG00000035992 |
| Gene Name |
folliculin interacting protein 1 |
| Synonyms |
A730024A03Rik |
| MMRRC Submission |
045989-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.793)
|
| Stock # |
R7943 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
54329025-54409061 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54393214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 550
(E550G)
|
| 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: E550G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049026
Gene: ENSMUSG00000035992
AA Change: E550G
| 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: E526G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121399
Gene: ENSMUSG00000035992
AA Change: E526G
| 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 |
100% (68/68) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
C |
T |
5: 8,736,222 (GRCm39) |
T205I |
probably benign |
Het |
| Acsbg1 |
T |
C |
9: 54,530,021 (GRCm39) |
H225R |
probably damaging |
Het |
| Anks1 |
T |
A |
17: 28,204,178 (GRCm39) |
Y209N |
probably damaging |
Het |
| Appl1 |
T |
A |
14: 26,667,525 (GRCm39) |
I377L |
probably benign |
Het |
| Arl9 |
A |
T |
5: 77,158,395 (GRCm39) |
D159V |
probably damaging |
Het |
| Arsa |
A |
C |
15: 89,358,292 (GRCm39) |
L339R |
probably damaging |
Het |
| C2 |
A |
G |
17: 35,091,354 (GRCm39) |
L380P |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,628,196 (GRCm39) |
C97R |
unknown |
Het |
| Ccdc74a |
A |
G |
16: 17,468,416 (GRCm39) |
H346R |
probably benign |
Het |
| Ccnl1 |
T |
C |
3: 65,864,326 (GRCm39) |
I152V |
probably benign |
Het |
| Cd4 |
C |
T |
6: 124,847,207 (GRCm39) |
|
probably null |
Het |
| Ceacam5 |
A |
T |
7: 17,479,491 (GRCm39) |
I203L |
probably benign |
Het |
| Ckap2 |
C |
A |
8: 22,665,090 (GRCm39) |
R458L |
probably damaging |
Het |
| Cldn10 |
T |
C |
14: 119,099,271 (GRCm39) |
|
probably null |
Het |
| Col27a1 |
C |
T |
4: 63,236,520 (GRCm39) |
R1377C |
unknown |
Het |
| Cry1 |
A |
T |
10: 84,978,984 (GRCm39) |
M514K |
probably benign |
Het |
| Crybg2 |
T |
G |
4: 133,800,295 (GRCm39) |
V176G |
probably damaging |
Het |
| Cyp2j5 |
C |
T |
4: 96,547,849 (GRCm39) |
G131D |
possibly damaging |
Het |
| Ddx46 |
A |
G |
13: 55,817,535 (GRCm39) |
Y720C |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,626,006 (GRCm39) |
V44D |
probably damaging |
Het |
| Eif1ad8 |
C |
T |
12: 87,563,773 (GRCm39) |
A36V |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,636,410 (GRCm39) |
|
probably null |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fam184a |
C |
T |
10: 53,523,137 (GRCm39) |
A956T |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,741,487 (GRCm39) |
R202* |
probably null |
Het |
| Gpr149 |
A |
G |
3: 62,438,132 (GRCm39) |
L675P |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,989,554 (GRCm39) |
Y2002H |
probably benign |
Het |
| Hp |
A |
G |
8: 110,302,187 (GRCm39) |
Y254H |
probably damaging |
Het |
| Ighg1 |
G |
T |
12: 113,293,957 (GRCm39) |
T62N |
|
Het |
| Jcad |
A |
G |
18: 4,672,700 (GRCm39) |
E154G |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,760,437 (GRCm39) |
S471P |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,169,352 (GRCm39) |
V1968A |
probably damaging |
Het |
| Mknk2 |
T |
A |
10: 80,511,701 (GRCm39) |
Q3L |
probably benign |
Het |
| Nup98 |
G |
A |
7: 101,844,029 (GRCm39) |
T65I |
probably benign |
Het |
| Or10p21 |
T |
A |
10: 128,847,934 (GRCm39) |
M260K |
possibly damaging |
Het |
| Or51f1e |
G |
A |
7: 102,747,153 (GRCm39) |
M68I |
probably damaging |
Het |
| Or5m11 |
A |
G |
2: 85,782,342 (GRCm39) |
T312A |
probably benign |
Het |
| Or9i14 |
A |
T |
19: 13,792,600 (GRCm39) |
M118K |
probably damaging |
Het |
| Pcdhgb4 |
C |
T |
18: 37,855,063 (GRCm39) |
T486I |
probably benign |
Het |
| Perm1 |
T |
A |
4: 156,302,991 (GRCm39) |
F512I |
probably damaging |
Het |
| Pgap3 |
A |
T |
11: 98,281,227 (GRCm39) |
L262Q |
probably damaging |
Het |
| Pklr |
A |
C |
3: 89,048,814 (GRCm39) |
Y126S |
probably damaging |
Het |
| Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
| Ppm1k |
T |
C |
6: 57,501,813 (GRCm39) |
T117A |
probably benign |
Het |
| Prkd2 |
G |
A |
7: 16,584,244 (GRCm39) |
E366K |
probably benign |
Het |
| Psd |
C |
A |
19: 46,313,169 (GRCm39) |
C67F |
possibly damaging |
Het |
| Ptpra |
T |
A |
2: 30,322,056 (GRCm39) |
F100L |
probably damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rock1 |
T |
C |
18: 10,112,357 (GRCm39) |
E466G |
probably damaging |
Het |
| Sec16b |
A |
T |
1: 157,382,327 (GRCm39) |
M588L |
probably benign |
Het |
| Serpina1f |
T |
A |
12: 103,659,949 (GRCm39) |
H111L |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,116,537 (GRCm39) |
I76T |
possibly damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,798,812 (GRCm39) |
L369Q |
possibly damaging |
Het |
| Spef2 |
A |
G |
15: 9,601,171 (GRCm39) |
M1697T |
unknown |
Het |
| St7 |
G |
A |
6: 17,844,911 (GRCm39) |
C133Y |
probably damaging |
Het |
| Tdpoz6 |
A |
T |
3: 93,600,070 (GRCm39) |
C100S |
probably benign |
Het |
| Tex19.1 |
T |
A |
11: 121,037,986 (GRCm39) |
W115R |
possibly damaging |
Het |
| Tfrc |
T |
A |
16: 32,449,039 (GRCm39) |
I726N |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,950,098 (GRCm39) |
|
probably null |
Het |
| Trim43a |
C |
T |
9: 88,464,238 (GRCm39) |
P50S |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,958,105 (GRCm39) |
V935E |
probably damaging |
Het |
| Ttc12 |
A |
T |
9: 49,381,620 (GRCm39) |
V117D |
possibly damaging |
Het |
| Ulbp1 |
T |
C |
10: 7,407,053 (GRCm39) |
T82A |
probably damaging |
Het |
| Usp13 |
C |
T |
3: 32,931,089 (GRCm39) |
H288Y |
probably damaging |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,079 (GRCm39) |
K693E |
possibly damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,932,566 (GRCm39) |
T158A |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,296,622 (GRCm39) |
K540R |
possibly damaging |
Het |
| Zfp143 |
T |
A |
7: 109,671,681 (GRCm39) |
|
probably null |
Het |
| Zfp709 |
G |
T |
8: 72,643,933 (GRCm39) |
C454F |
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 |
|
|
R7939:Fnip1
|
UTSW |
11 |
54,393,093 (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'- GAGGTTTCTCATGATTGAAAGACTG -3'
(R):5'- CTGTATTTTGCCCAAGGACTGG -3'
Sequencing Primer
(F):5'- CATGATTGAAAGACTGTTTAGCTGTG -3'
(R):5'- GGACTGGATGACTGCAATATTTACAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation