Incidental Mutation 'IGL03227:Fitm2'
| ID |
414139 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fitm2
|
| Ensembl Gene |
ENSMUSG00000048486 |
| Gene Name |
fat storage-inducing transmembrane protein 2 |
| Synonyms |
D930001I22Rik, Fit2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03227
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
163310623-163314549 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 163311452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 254
(T254A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109418]
|
| AlphaFold |
P59266 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000065731
|
| SMART Domains |
Protein: ENSMUSP00000069586
Gene: ENSMUSG00000053353
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109418
AA Change: T254A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000105045
Gene: ENSMUSG00000048486
AA Change: T254A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Scs3p
|
45 |
190 |
2.2e-23 |
PFAM |
|
transmembrane domain
|
220 |
239 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186760
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
T |
1: 25,586,556 (GRCm39) |
G172E |
probably damaging |
Het |
| Alas2 |
A |
G |
X: 149,340,262 (GRCm39) |
K151E |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,066,089 (GRCm39) |
T4353A |
probably benign |
Het |
| Arhgef1 |
C |
A |
7: 24,622,276 (GRCm39) |
D554E |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,056,715 (GRCm39) |
L857Q |
probably damaging |
Het |
| Atp2b4 |
C |
A |
1: 133,657,445 (GRCm39) |
|
probably benign |
Het |
| Bche |
C |
A |
3: 73,608,945 (GRCm39) |
K160N |
probably damaging |
Het |
| Bmx |
A |
G |
X: 162,986,192 (GRCm39) |
M537T |
probably damaging |
Het |
| Bysl |
T |
C |
17: 47,922,017 (GRCm39) |
N27S |
probably benign |
Het |
| Ccdc110 |
T |
A |
8: 46,394,586 (GRCm39) |
L159H |
probably damaging |
Het |
| Cd34 |
G |
A |
1: 194,640,771 (GRCm39) |
C212Y |
probably damaging |
Het |
| Erich2 |
C |
T |
2: 70,343,114 (GRCm39) |
|
probably benign |
Het |
| Fap |
T |
A |
2: 62,361,107 (GRCm39) |
|
probably null |
Het |
| Fscn3 |
T |
C |
6: 28,434,429 (GRCm39) |
S335P |
probably benign |
Het |
| Grk2 |
C |
T |
19: 4,337,857 (GRCm39) |
E508K |
probably benign |
Het |
| Lbr |
T |
C |
1: 181,663,620 (GRCm39) |
|
probably null |
Het |
| Lct |
A |
T |
1: 128,255,426 (GRCm39) |
F205L |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,958,435 (GRCm39) |
I550N |
probably benign |
Het |
| Med13 |
A |
G |
11: 86,218,618 (GRCm39) |
|
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,422,468 (GRCm39) |
S563T |
probably damaging |
Het |
| Msra |
A |
G |
14: 64,551,192 (GRCm39) |
V50A |
probably benign |
Het |
| Or7g25 |
A |
G |
9: 19,160,518 (GRCm39) |
M59T |
probably damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,711 (GRCm39) |
V363E |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,257,677 (GRCm39) |
T347M |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,999,920 (GRCm39) |
|
probably benign |
Het |
| Rtl9 |
A |
C |
X: 141,882,824 (GRCm39) |
T79P |
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,576,410 (GRCm39) |
|
probably null |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Smurf1 |
G |
T |
5: 144,835,992 (GRCm39) |
P123H |
probably damaging |
Het |
| Strn4 |
A |
G |
7: 16,571,639 (GRCm39) |
T590A |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,796,483 (GRCm39) |
S780P |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,764,143 (GRCm39) |
Y250H |
probably benign |
Het |
| Zfp770 |
A |
T |
2: 114,027,570 (GRCm39) |
C166* |
probably null |
Het |
|
| Other mutations in Fitm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Fitm2
|
APN |
2 |
163,311,712 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0481:Fitm2
|
UTSW |
2 |
163,311,634 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0846:Fitm2
|
UTSW |
2 |
163,311,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1595:Fitm2
|
UTSW |
2 |
163,311,610 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2205:Fitm2
|
UTSW |
2 |
163,314,516 (GRCm39) |
start gained |
probably benign |
|
|
R2208:Fitm2
|
UTSW |
2 |
163,314,604 (GRCm39) |
unclassified |
probably benign |
|
|
R3113:Fitm2
|
UTSW |
2 |
163,311,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4559:Fitm2
|
UTSW |
2 |
163,314,593 (GRCm39) |
unclassified |
probably benign |
|
|
R6052:Fitm2
|
UTSW |
2 |
163,312,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6150:Fitm2
|
UTSW |
2 |
163,311,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Fitm2
|
UTSW |
2 |
163,311,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7694:Fitm2
|
UTSW |
2 |
163,311,892 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7774:Fitm2
|
UTSW |
2 |
163,311,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7833:Fitm2
|
UTSW |
2 |
163,312,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8128:Fitm2
|
UTSW |
2 |
163,311,568 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8443:Fitm2
|
UTSW |
2 |
163,311,768 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8867:Fitm2
|
UTSW |
2 |
163,311,602 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9631:Fitm2
|
UTSW |
2 |
163,311,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Fitm2
|
UTSW |
2 |
163,311,785 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2016-08-02 |
Incidental Mutation