Incidental Mutation 'IGL01095:Fhl2'
| ID |
50248 |
| 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 # |
IGL01095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
43162234-43236144 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43170841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 158
(Y158N)
|
| 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: Y158N
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000008280
Gene: ENSMUSG00000008136
AA Change: Y158N
| 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: Y158N
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141170
Gene: ENSMUSG00000008136
AA Change: Y158N
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,079,133 (GRCm39) |
I364L |
probably benign |
Het |
| Adgra1 |
A |
G |
7: 139,425,570 (GRCm39) |
T28A |
possibly damaging |
Het |
| Aldh8a1 |
A |
G |
10: 21,265,180 (GRCm39) |
E269G |
probably benign |
Het |
| Alkbh7 |
A |
G |
17: 57,304,470 (GRCm39) |
|
probably null |
Het |
| Ap1g2 |
T |
C |
14: 55,342,571 (GRCm39) |
T129A |
probably benign |
Het |
| Ap1s1 |
A |
G |
5: 137,070,663 (GRCm39) |
I117T |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,415,195 (GRCm39) |
P119S |
possibly damaging |
Het |
| Chid1 |
A |
G |
7: 141,110,142 (GRCm39) |
V62A |
probably damaging |
Het |
| Cpa1 |
A |
T |
6: 30,642,968 (GRCm39) |
I299F |
probably benign |
Het |
| Cuzd1 |
A |
G |
7: 130,917,865 (GRCm39) |
V245A |
probably damaging |
Het |
| Ddx39b |
T |
C |
17: 35,465,937 (GRCm39) |
S71P |
probably benign |
Het |
| Ddx42 |
A |
G |
11: 106,138,325 (GRCm39) |
Y708C |
probably damaging |
Het |
| Dnah3 |
C |
A |
7: 119,550,820 (GRCm39) |
L3166F |
probably benign |
Het |
| Erap1 |
A |
G |
13: 74,816,213 (GRCm39) |
E114G |
probably benign |
Het |
| Fap |
G |
A |
2: 62,354,545 (GRCm39) |
T448I |
possibly damaging |
Het |
| Fscb |
A |
G |
12: 64,520,155 (GRCm39) |
V437A |
possibly damaging |
Het |
| Il18 |
A |
T |
9: 50,490,629 (GRCm39) |
D88V |
probably damaging |
Het |
| Il5ra |
A |
T |
6: 106,719,605 (GRCm39) |
|
probably benign |
Het |
| Jakmip3 |
A |
T |
7: 138,622,546 (GRCm39) |
Q302L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,322,776 (GRCm39) |
Y1857* |
probably null |
Het |
| Meis2 |
T |
C |
2: 115,694,905 (GRCm39) |
T406A |
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,721,120 (GRCm39) |
S346R |
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,952,378 (GRCm39) |
K816M |
probably damaging |
Het |
| Mysm1 |
C |
T |
4: 94,856,106 (GRCm39) |
|
probably null |
Het |
| Nyap1 |
C |
A |
5: 137,736,346 (GRCm39) |
R47L |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,910,954 (GRCm39) |
Y209H |
probably damaging |
Het |
| Or2v2 |
T |
G |
11: 49,003,680 (GRCm39) |
Y291S |
probably damaging |
Het |
| Or4g16 |
A |
G |
2: 111,136,966 (GRCm39) |
R139G |
probably benign |
Het |
| Or6c209 |
A |
G |
10: 129,483,498 (GRCm39) |
D167G |
probably benign |
Het |
| Or8b42 |
A |
G |
9: 38,341,811 (GRCm39) |
I78V |
probably benign |
Het |
| Or8d6 |
T |
C |
9: 39,853,976 (GRCm39) |
V140A |
probably benign |
Het |
| Pde4b |
T |
C |
4: 102,363,241 (GRCm39) |
|
probably null |
Het |
| Psd3 |
G |
A |
8: 68,361,165 (GRCm39) |
T99M |
probably damaging |
Het |
| R3hcc1 |
T |
C |
14: 69,937,477 (GRCm39) |
E390G |
probably damaging |
Het |
| Rabgap1l |
A |
C |
1: 160,566,539 (GRCm39) |
C58W |
probably benign |
Het |
| Rasd1 |
A |
G |
11: 59,855,117 (GRCm39) |
I121T |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,051 (GRCm39) |
N1284D |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,285,891 (GRCm39) |
V525A |
possibly damaging |
Het |
|
| Other mutations in Fhl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation