Incidental Mutation 'R0846:Fitm2'
ID |
77359 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fitm2
|
Ensembl Gene |
ENSMUSG00000048486 |
Gene Name |
fat storage-inducing transmembrane protein 2 |
Synonyms |
D930001I22Rik, Fit2 |
MMRRC Submission |
039025-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0846 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
163310623-163314549 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 163311734 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 160
(T160A)
|
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: T160A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000105045 Gene: ENSMUSG00000048486 AA Change: T160A
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 |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.2%
- 20x: 90.2%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,936,071 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
G |
A |
13: 81,627,861 (GRCm39) |
R3667* |
probably null |
Het |
Adh5 |
T |
G |
3: 138,156,835 (GRCm39) |
C174G |
probably damaging |
Het |
Cap1 |
A |
C |
4: 122,756,692 (GRCm39) |
|
probably null |
Het |
Caps2 |
G |
A |
10: 112,051,490 (GRCm39) |
R587H |
probably damaging |
Het |
Ccn1 |
T |
A |
3: 145,353,525 (GRCm39) |
M346L |
possibly damaging |
Het |
Cdo1 |
A |
G |
18: 46,848,812 (GRCm39) |
V142A |
probably damaging |
Het |
Chuk |
T |
C |
19: 44,079,467 (GRCm39) |
T345A |
probably damaging |
Het |
Cobll1 |
T |
C |
2: 64,932,409 (GRCm39) |
|
probably null |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cop1 |
T |
C |
1: 159,147,386 (GRCm39) |
Y571H |
probably benign |
Het |
Cstpp1 |
T |
A |
2: 91,214,182 (GRCm39) |
T58S |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,959,283 (GRCm39) |
V163A |
probably benign |
Het |
Dnah11 |
G |
T |
12: 117,897,585 (GRCm39) |
N3548K |
probably damaging |
Het |
Ehhadh |
G |
T |
16: 21,592,247 (GRCm39) |
S152* |
probably null |
Het |
Fos |
C |
T |
12: 85,522,457 (GRCm39) |
T162I |
probably damaging |
Het |
Fsd2 |
T |
C |
7: 81,190,145 (GRCm39) |
I546V |
probably benign |
Het |
Gal3st2c |
T |
C |
1: 93,934,669 (GRCm39) |
V19A |
possibly damaging |
Het |
Gorasp2 |
T |
A |
2: 70,521,298 (GRCm39) |
S443T |
probably benign |
Het |
Klf4 |
G |
A |
4: 55,530,191 (GRCm39) |
H307Y |
probably damaging |
Het |
Ldc1 |
A |
C |
4: 130,115,417 (GRCm39) |
S44A |
probably benign |
Het |
Mark3 |
A |
G |
12: 111,593,658 (GRCm39) |
D230G |
possibly damaging |
Het |
Mnat1 |
T |
G |
12: 73,170,706 (GRCm39) |
|
probably null |
Het |
Or5m9b |
T |
C |
2: 85,905,510 (GRCm39) |
L142P |
possibly damaging |
Het |
Otogl |
T |
G |
10: 107,608,157 (GRCm39) |
T2073P |
probably benign |
Het |
Pdxdc1 |
A |
C |
16: 13,672,257 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
T |
C |
15: 44,358,993 (GRCm39) |
S401P |
probably damaging |
Het |
Polr1a |
T |
C |
6: 71,901,627 (GRCm39) |
Y262H |
probably damaging |
Het |
Pramel19 |
A |
T |
4: 101,798,447 (GRCm39) |
K139N |
probably benign |
Het |
Scamp4 |
T |
C |
10: 80,450,537 (GRCm39) |
F205L |
probably benign |
Het |
Scn1a |
C |
T |
2: 66,155,099 (GRCm39) |
S620N |
probably benign |
Het |
Scn7a |
C |
T |
2: 66,527,944 (GRCm39) |
D849N |
possibly damaging |
Het |
Slc17a8 |
T |
C |
10: 89,442,596 (GRCm39) |
D79G |
possibly damaging |
Het |
Sync |
A |
G |
4: 129,187,897 (GRCm39) |
S310G |
probably benign |
Het |
Tbc1d9b |
A |
C |
11: 50,062,148 (GRCm39) |
I1219L |
probably benign |
Het |
Vmn1r47 |
T |
A |
6: 89,999,657 (GRCm39) |
M263K |
probably benign |
Het |
Zfp773 |
A |
T |
7: 7,135,691 (GRCm39) |
C302S |
probably damaging |
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 |
IGL03227:Fitm2
|
APN |
2 |
163,311,452 (GRCm39) |
missense |
probably benign |
0.00 |
R0481:Fitm2
|
UTSW |
2 |
163,311,634 (GRCm39) |
missense |
probably benign |
0.21 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCGAACACTTTCTGGGTCAAGTC -3'
(R):5'- TGCCAAGTCTGGTCTTCACCTGTG -3'
Sequencing Primer
(F):5'- CTGGGTCAAGTCGTGGAAATAAAC -3'
(R):5'- TACCACCTGACGGGCAAG -3'
|
Posted On |
2013-10-16 |