Incidental Mutation 'R0938:Fhl2'
| ID |
81217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhl2
|
| Ensembl Gene |
ENSMUSG00000008136 |
| Gene Name |
four and a half LIM domains 2 |
| Synonyms |
SLIM3 |
| MMRRC Submission |
039077-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0938 (G1)
|
| Quality Score |
196 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
43162234-43236144 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43180866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 108
(I108T)
|
| 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: I108T
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000008280
Gene: ENSMUSG00000008136
AA Change: I108T
| 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: I108T
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141170
Gene: ENSMUSG00000008136
AA Change: I108T
| 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 |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.7%
- 20x: 88.1%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcan |
A |
G |
3: 87,900,461 (GRCm39) |
S591P |
possibly damaging |
Het |
| Chfr |
T |
C |
5: 110,311,924 (GRCm39) |
L579P |
probably damaging |
Het |
| Dab2 |
C |
T |
15: 6,464,865 (GRCm39) |
T439I |
probably benign |
Het |
| Dazap1 |
T |
C |
10: 80,116,795 (GRCm39) |
S165P |
possibly damaging |
Het |
| Dlx2 |
C |
A |
2: 71,375,012 (GRCm39) |
W284L |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,002,658 (GRCm39) |
N3803K |
probably benign |
Het |
| Dynlrb2 |
A |
C |
8: 117,241,707 (GRCm39) |
|
probably null |
Het |
| Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
| Galnt18 |
T |
C |
7: 111,119,206 (GRCm39) |
I438M |
possibly damaging |
Het |
| Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
| Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
| Ifi204 |
A |
T |
1: 173,579,311 (GRCm39) |
N511K |
possibly damaging |
Het |
| Klhl1 |
A |
T |
14: 96,389,476 (GRCm39) |
Y559* |
probably null |
Het |
| Mob1b |
T |
A |
5: 88,897,452 (GRCm39) |
I120N |
probably damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
| Oosp2 |
G |
A |
19: 11,628,904 (GRCm39) |
Q66* |
probably null |
Het |
| P4ha2 |
A |
G |
11: 54,010,148 (GRCm39) |
K302E |
possibly damaging |
Het |
| Pard6g |
C |
T |
18: 80,123,259 (GRCm39) |
R98* |
probably null |
Het |
| Pkdrej |
G |
A |
15: 85,702,364 (GRCm39) |
P1191S |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Smim29 |
T |
C |
17: 27,783,368 (GRCm39) |
K43R |
possibly damaging |
Het |
| Ubap2 |
A |
C |
4: 41,202,304 (GRCm39) |
L708R |
probably damaging |
Het |
| Zfp638 |
G |
A |
6: 83,961,023 (GRCm39) |
V1204I |
probably benign |
Het |
| Zfp865 |
G |
T |
7: 5,034,403 (GRCm39) |
C796F |
possibly damaging |
Het |
| Zmiz2 |
A |
T |
11: 6,347,185 (GRCm39) |
M237L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGGTAGCTGAACCCAATTCCTG -3'
(R):5'- CTTGTCCTACAAGGATCGGCACTG -3'
Sequencing Primer
(F):5'- tgaggggtaggggttgag -3'
(R):5'- TGGCATGAAGGCTGCTTCC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation