Incidental Mutation 'R6676:Fhl2'
| ID |
527275 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhl2
|
| Ensembl Gene |
ENSMUSG00000008136 |
| Gene Name |
four and a half LIM domains 2 |
| Synonyms |
SLIM3 |
| MMRRC Submission |
044795-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6676 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
43162234-43236144 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43170970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 115
(M115V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008280]
[ENSMUST00000185893]
[ENSMUST00000187357]
|
| AlphaFold |
O70433 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008280
AA Change: M115V
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000008280
Gene: ENSMUSG00000008136
AA Change: M115V
| 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 |
possibly damaging
Transcript: ENSMUST00000185893
AA Change: M115V
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141170
Gene: ENSMUSG00000008136
AA Change: M115V
| 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 |
possibly damaging
Transcript: ENSMUST00000187357
AA Change: M7V
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.3%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
A |
T |
8: 27,601,268 (GRCm39) |
I303F |
possibly damaging |
Het |
| Cldn9 |
A |
G |
17: 23,902,023 (GRCm39) |
S201P |
probably benign |
Het |
| Clstn2 |
G |
T |
9: 97,343,584 (GRCm39) |
P621Q |
probably damaging |
Het |
| Ctdspl2 |
A |
G |
2: 121,837,445 (GRCm39) |
N403S |
probably damaging |
Het |
| Cyp2j5 |
T |
C |
4: 96,524,045 (GRCm39) |
Y329C |
possibly damaging |
Het |
| Elapor1 |
A |
G |
3: 108,377,231 (GRCm39) |
L461P |
probably damaging |
Het |
| Elovl1 |
A |
G |
4: 118,287,700 (GRCm39) |
|
probably benign |
Het |
| Fam83a |
A |
G |
15: 57,856,439 (GRCm39) |
D206G |
possibly damaging |
Het |
| Fancd2 |
C |
T |
6: 113,514,626 (GRCm39) |
Q144* |
probably null |
Het |
| Fry |
T |
A |
5: 150,304,387 (GRCm39) |
D592E |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Mamdc2 |
T |
A |
19: 23,280,997 (GRCm39) |
I684F |
probably damaging |
Het |
| Mia2 |
T |
C |
12: 59,155,156 (GRCm39) |
Y290H |
probably damaging |
Het |
| Mup12 |
C |
T |
4: 60,696,642 (GRCm39) |
|
probably null |
Het |
| Olr1 |
T |
A |
6: 129,477,040 (GRCm39) |
|
probably null |
Het |
| Or51a24 |
T |
C |
7: 103,733,661 (GRCm39) |
T209A |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,860 (GRCm39) |
V364A |
possibly damaging |
Het |
| Pfkp |
A |
G |
13: 6,636,575 (GRCm39) |
S654P |
possibly damaging |
Het |
| Rab3gap2 |
T |
G |
1: 185,015,607 (GRCm39) |
V1275G |
probably damaging |
Het |
| Rbbp4 |
A |
G |
4: 129,222,414 (GRCm39) |
F93L |
probably benign |
Het |
| Ripk1 |
T |
C |
13: 34,194,587 (GRCm39) |
V75A |
probably damaging |
Het |
| Scg2 |
T |
A |
1: 79,413,499 (GRCm39) |
Q368L |
possibly damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,734,145 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATGACAGCTGGGCCAAG -3'
(R):5'- AGGATTGCATGTATAGCGTTGAAAC -3'
Sequencing Primer
(F):5'- CTGAGAAGGACAAGAGGCCCC -3'
(R):5'- CATGTATAGCGTTGAAACAAAAGGC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation