Incidental Mutation 'IGL03330:Fhl2'
ID |
416846 |
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 # |
IGL03330
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
43162234-43236144 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43192351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 14
(L14P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141170
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008280]
[ENSMUST00000185893]
[ENSMUST00000187357]
|
AlphaFold |
O70433 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000008280
AA Change: L14P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000008280 Gene: ENSMUSG00000008136 AA Change: L14P
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 damaging
Transcript: ENSMUST00000185893
AA Change: L14P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141170 Gene: ENSMUSG00000008136 AA Change: L14P
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
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
T |
C |
11: 72,050,254 (GRCm39) |
I837V |
probably damaging |
Het |
Actr2 |
A |
G |
11: 20,041,330 (GRCm39) |
V138A |
probably benign |
Het |
Adam30 |
G |
A |
3: 98,069,772 (GRCm39) |
C535Y |
probably damaging |
Het |
Bcor |
G |
A |
X: 11,925,110 (GRCm39) |
T162I |
possibly damaging |
Het |
Catsperd |
C |
A |
17: 56,939,316 (GRCm39) |
N48K |
possibly damaging |
Het |
Ccr2 |
T |
C |
9: 123,905,996 (GRCm39) |
I92T |
probably damaging |
Het |
Cp |
A |
G |
3: 20,020,599 (GRCm39) |
I197M |
probably damaging |
Het |
Cpne3 |
T |
A |
4: 19,553,774 (GRCm39) |
T86S |
possibly damaging |
Het |
Dnm3 |
A |
T |
1: 162,148,560 (GRCm39) |
D270E |
probably benign |
Het |
Enpp1 |
C |
T |
10: 24,540,804 (GRCm39) |
|
probably benign |
Het |
Ephx1 |
A |
G |
1: 180,827,371 (GRCm39) |
V94A |
possibly damaging |
Het |
Fbxw25 |
T |
C |
9: 109,474,307 (GRCm39) |
M448V |
probably benign |
Het |
Gabra4 |
T |
C |
5: 71,798,407 (GRCm39) |
R191G |
probably null |
Het |
Gtpbp6 |
T |
C |
5: 110,254,929 (GRCm39) |
T151A |
possibly damaging |
Het |
Lars1 |
T |
A |
18: 42,353,009 (GRCm39) |
M803L |
probably benign |
Het |
Myc |
A |
G |
15: 61,859,998 (GRCm39) |
T224A |
probably benign |
Het |
Noxa1 |
T |
A |
2: 24,980,526 (GRCm39) |
D161V |
possibly damaging |
Het |
Or2w3b |
A |
C |
11: 58,623,745 (GRCm39) |
L82R |
probably damaging |
Het |
Or4l1 |
C |
T |
14: 50,166,678 (GRCm39) |
G108R |
probably damaging |
Het |
Or8g52 |
C |
T |
9: 39,630,784 (GRCm39) |
T87I |
probably benign |
Het |
Peg3 |
G |
T |
7: 6,713,412 (GRCm39) |
N603K |
probably damaging |
Het |
Rhox4c |
G |
T |
X: 36,662,181 (GRCm39) |
G15V |
probably benign |
Het |
Sgcb |
T |
A |
5: 73,797,212 (GRCm39) |
S183C |
probably damaging |
Het |
Slc6a19 |
T |
A |
13: 73,837,679 (GRCm39) |
I239F |
possibly damaging |
Het |
Socs7 |
T |
C |
11: 97,269,378 (GRCm39) |
Y399H |
probably damaging |
Het |
Stc2 |
T |
C |
11: 31,319,804 (GRCm39) |
D20G |
probably benign |
Het |
Tmem184b |
A |
T |
15: 79,254,179 (GRCm39) |
|
probably null |
Het |
Tpo |
A |
G |
12: 30,153,500 (GRCm39) |
S285P |
probably damaging |
Het |
Vmn2r27 |
G |
T |
6: 124,207,139 (GRCm39) |
Y167* |
probably null |
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 |
|
IGL02800:Fhl2
|
APN |
1 |
43,167,562 (GRCm39) |
missense |
probably benign |
0.28 |
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 |
2016-08-02 |