Incidental Mutation 'IGL02800:Fhl2'
ID |
360160 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fhl2
|
Ensembl Gene |
ENSMUSG00000008136 |
Gene Name |
four and a half LIM domains 2 |
Synonyms |
SLIM3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02800
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
43162234-43236144 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 43167562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 177
(R177Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141170
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008280]
[ENSMUST00000185893]
[ENSMUST00000187357]
|
AlphaFold |
O70433 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000008280
AA Change: R177Q
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000008280 Gene: ENSMUSG00000008136 AA Change: R177Q
Domain | Start | End | E-Value | Type |
LIM
|
39 |
92 |
1.35e-11 |
SMART |
LIM
|
100 |
153 |
5.22e-18 |
SMART |
LIM
|
161 |
212 |
3.29e-15 |
SMART |
LIM
|
220 |
275 |
1.01e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185893
AA Change: R177Q
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000141170 Gene: ENSMUSG00000008136 AA Change: R177Q
Domain | Start | End | E-Value | Type |
LIM
|
39 |
92 |
1.35e-11 |
SMART |
LIM
|
100 |
153 |
5.22e-18 |
SMART |
LIM
|
161 |
212 |
3.29e-15 |
SMART |
LIM
|
220 |
275 |
1.01e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187357
|
Meta Mutation Damage Score |
0.1855 |
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the four-and-a-half-LIM-only protein family. The encoded protein functions as a regulator in numerous signaling pathways and cellular processes in development and cellular differentiation, including development and maintenance of the cardiovascular system and striated muscles. This gene also plays a role in bone formation and regulates and bone mineral content and bone mineral density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] PHENOTYPE: Mice homozygous for a targeted null mutation display osteopenia and osteoporosis; cardiovascular development is normal but cardiac hypertrophy develops in mutants in response to beta-adrenergic stimulation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg6 |
A |
G |
10: 14,296,349 (GRCm39) |
I1045T |
probably damaging |
Het |
Ankrd22 |
T |
C |
19: 34,143,181 (GRCm39) |
|
probably benign |
Het |
Bahcc1 |
A |
G |
11: 120,163,760 (GRCm39) |
D686G |
probably damaging |
Het |
Carns1 |
A |
G |
19: 4,216,569 (GRCm39) |
|
probably benign |
Het |
Cc2d1b |
C |
T |
4: 108,483,333 (GRCm39) |
L306F |
probably benign |
Het |
Ccdc153 |
A |
G |
9: 44,157,129 (GRCm39) |
E135G |
probably damaging |
Het |
Ccne1 |
T |
C |
7: 37,802,224 (GRCm39) |
D148G |
probably damaging |
Het |
Cfap57 |
A |
T |
4: 118,471,947 (GRCm39) |
M144K |
probably damaging |
Het |
Chd6 |
A |
G |
2: 160,826,552 (GRCm39) |
V1049A |
probably damaging |
Het |
Cpne9 |
A |
G |
6: 113,279,034 (GRCm39) |
D476G |
probably benign |
Het |
Dna2 |
T |
C |
10: 62,797,504 (GRCm39) |
|
probably null |
Het |
Eif4h |
T |
C |
5: 134,656,459 (GRCm39) |
D77G |
probably benign |
Het |
Fxyd5 |
C |
T |
7: 30,732,404 (GRCm39) |
R176H |
possibly damaging |
Het |
G6pd2 |
A |
G |
5: 61,966,735 (GRCm39) |
E170G |
probably damaging |
Het |
Haus3 |
A |
G |
5: 34,323,668 (GRCm39) |
I314T |
possibly damaging |
Het |
Igkv4-54 |
A |
G |
6: 69,608,862 (GRCm39) |
V41A |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,053,092 (GRCm39) |
C461S |
probably damaging |
Het |
Lsr |
T |
C |
7: 30,657,838 (GRCm39) |
D442G |
probably damaging |
Het |
Mecom |
T |
C |
3: 30,015,183 (GRCm39) |
I847V |
probably damaging |
Het |
Mia2 |
C |
T |
12: 59,235,277 (GRCm39) |
R1326* |
probably null |
Het |
Myo15a |
C |
A |
11: 60,393,195 (GRCm39) |
H2240N |
probably damaging |
Het |
Or1e17 |
A |
G |
11: 73,831,942 (GRCm39) |
Y290C |
probably damaging |
Het |
Or4f62 |
A |
T |
2: 111,986,589 (GRCm39) |
I98F |
possibly damaging |
Het |
Osgep |
T |
A |
14: 51,153,314 (GRCm39) |
|
probably benign |
Het |
Pcnt |
G |
A |
10: 76,248,417 (GRCm39) |
Q901* |
probably null |
Het |
Pgm3 |
T |
C |
9: 86,437,431 (GRCm39) |
E481G |
possibly damaging |
Het |
Plch1 |
T |
A |
3: 63,605,899 (GRCm39) |
D1326V |
probably benign |
Het |
Rabgap1l |
T |
C |
1: 160,299,623 (GRCm39) |
D590G |
possibly damaging |
Het |
Rapsn |
A |
G |
2: 90,873,584 (GRCm39) |
M244V |
probably benign |
Het |
Rcbtb2 |
T |
A |
14: 73,405,543 (GRCm39) |
Y299* |
probably null |
Het |
Slc8a1 |
A |
T |
17: 81,715,752 (GRCm39) |
D760E |
probably benign |
Het |
Smim23 |
C |
A |
11: 32,774,424 (GRCm39) |
|
probably null |
Het |
Sva |
A |
G |
6: 42,017,069 (GRCm39) |
T59A |
unknown |
Het |
Tacc2 |
T |
A |
7: 130,225,809 (GRCm39) |
D831E |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,635,154 (GRCm39) |
N551S |
probably benign |
Het |
Tg |
G |
T |
15: 66,629,735 (GRCm39) |
W472L |
probably damaging |
Het |
Tmem231 |
A |
G |
8: 112,640,664 (GRCm39) |
V283A |
probably benign |
Het |
Traf4 |
A |
T |
11: 78,051,061 (GRCm39) |
I365N |
possibly damaging |
Het |
Usf3 |
G |
A |
16: 44,039,459 (GRCm39) |
S1313N |
probably benign |
Het |
Vangl1 |
G |
A |
3: 102,070,611 (GRCm39) |
|
probably benign |
Het |
Wdr70 |
T |
C |
15: 8,111,980 (GRCm39) |
S88G |
probably benign |
Het |
|
Other mutations in Fhl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01095:Fhl2
|
APN |
1 |
43,170,841 (GRCm39) |
missense |
probably benign |
0.37 |
IGL01941:Fhl2
|
APN |
1 |
43,170,832 (GRCm39) |
nonsense |
probably null |
|
IGL02216:Fhl2
|
APN |
1 |
43,170,879 (GRCm39) |
missense |
probably null |
0.84 |
IGL02335:Fhl2
|
APN |
1 |
43,167,550 (GRCm39) |
nonsense |
probably null |
|
IGL03330:Fhl2
|
APN |
1 |
43,192,351 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02799:Fhl2
|
UTSW |
1 |
43,167,562 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02802:Fhl2
|
UTSW |
1 |
43,162,761 (GRCm39) |
nonsense |
probably null |
|
R0103:Fhl2
|
UTSW |
1 |
43,192,381 (GRCm39) |
missense |
probably benign |
0.00 |
R0103:Fhl2
|
UTSW |
1 |
43,192,381 (GRCm39) |
missense |
probably benign |
0.00 |
R0938:Fhl2
|
UTSW |
1 |
43,180,866 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6459:Fhl2
|
UTSW |
1 |
43,162,813 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6676:Fhl2
|
UTSW |
1 |
43,170,970 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7048:Fhl2
|
UTSW |
1 |
43,162,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R7143:Fhl2
|
UTSW |
1 |
43,181,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R7853:Fhl2
|
UTSW |
1 |
43,180,984 (GRCm39) |
missense |
probably damaging |
0.96 |
R8695:Fhl2
|
UTSW |
1 |
43,167,571 (GRCm39) |
missense |
probably damaging |
0.97 |
R8774:Fhl2
|
UTSW |
1 |
43,162,751 (GRCm39) |
missense |
probably damaging |
0.98 |
R8774-TAIL:Fhl2
|
UTSW |
1 |
43,162,751 (GRCm39) |
missense |
probably damaging |
0.98 |
R9250:Fhl2
|
UTSW |
1 |
43,167,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R9616:Fhl2
|
UTSW |
1 |
43,167,546 (GRCm39) |
missense |
probably damaging |
1.00 |
X0019:Fhl2
|
UTSW |
1 |
43,167,569 (GRCm39) |
missense |
possibly damaging |
0.73 |
X0021:Fhl2
|
UTSW |
1 |
43,192,303 (GRCm39) |
missense |
probably benign |
|
X0028:Fhl2
|
UTSW |
1 |
43,167,460 (GRCm39) |
missense |
probably benign |
0.09 |
|
Posted On |
2015-12-18 |