Incidental Mutation 'R3019:Lhx5'
| ID |
257708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lhx5
|
| Ensembl Gene |
ENSMUSG00000029595 |
| Gene Name |
LIM homeobox protein 5 |
| Synonyms |
Lim2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.850)
|
| Stock # |
R3019 (G1)
|
| Quality Score |
160 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
120569764-120579288 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 120578070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 297
(A297S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031591]
|
| AlphaFold |
P61375 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031591
AA Change: A297S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000031591
Gene: ENSMUSG00000029595
AA Change: A297S
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
4 |
55 |
1.7e-17 |
SMART |
|
LIM
|
63 |
118 |
3e-18 |
SMART |
|
low complexity region
|
120 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
153 |
N/A |
INTRINSIC |
|
HOX
|
180 |
242 |
1.33e-22 |
SMART |
|
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
384 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in the control of differentiation and development of the forebrain. In mice, this protein is essential for the regulation of precursor cell proliferation and the control of neuronal differentiation and migration during hippocampal development. This protein is involved in learning and motor functions in adult mice. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for a null mutation display defective hippocampal development and die within a few days after birth. Postmitotic hippocampal cells are unable to differentiate properly and migrate to correct positions, resulting in structural anomalies of the Ammon's horn and the dentate gyrus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atr |
C |
A |
9: 95,787,871 (GRCm39) |
A1488E |
possibly damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Birc2 |
C |
T |
9: 7,857,390 (GRCm39) |
|
probably null |
Het |
| Cntnap5a |
T |
C |
1: 116,029,299 (GRCm39) |
L251P |
probably benign |
Het |
| Fryl |
G |
T |
5: 73,240,193 (GRCm39) |
H1406N |
probably benign |
Het |
| Heatr6 |
T |
A |
11: 83,669,658 (GRCm39) |
|
probably null |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Lamb3 |
T |
C |
1: 193,013,717 (GRCm39) |
|
probably null |
Het |
| Med18 |
G |
A |
4: 132,187,128 (GRCm39) |
R124C |
probably damaging |
Het |
| Synpo2 |
A |
G |
3: 122,907,228 (GRCm39) |
V696A |
probably damaging |
Het |
| Tgfbr3 |
C |
A |
5: 107,285,412 (GRCm39) |
R563L |
possibly damaging |
Het |
| Tm6sf1 |
A |
G |
7: 81,525,813 (GRCm39) |
T207A |
probably benign |
Het |
| Vmn1r56 |
C |
A |
7: 5,199,061 (GRCm39) |
M185I |
probably benign |
Het |
| Vmn1r64 |
A |
G |
7: 5,887,226 (GRCm39) |
S106P |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Lhx5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1793:Lhx5
|
UTSW |
5 |
120,572,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2958:Lhx5
|
UTSW |
5 |
120,573,542 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4504:Lhx5
|
UTSW |
5 |
120,578,073 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4505:Lhx5
|
UTSW |
5 |
120,578,073 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4507:Lhx5
|
UTSW |
5 |
120,578,073 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4508:Lhx5
|
UTSW |
5 |
120,573,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4671:Lhx5
|
UTSW |
5 |
120,578,032 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4769:Lhx5
|
UTSW |
5 |
120,574,503 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5547:Lhx5
|
UTSW |
5 |
120,572,675 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7122:Lhx5
|
UTSW |
5 |
120,574,410 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7439:Lhx5
|
UTSW |
5 |
120,578,349 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8911:Lhx5
|
UTSW |
5 |
120,574,509 (GRCm39) |
nonsense |
probably null |
|
|
R9168:Lhx5
|
UTSW |
5 |
120,570,410 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9197:Lhx5
|
UTSW |
5 |
120,573,446 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9293:Lhx5
|
UTSW |
5 |
120,570,451 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9701:Lhx5
|
UTSW |
5 |
120,572,663 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9802:Lhx5
|
UTSW |
5 |
120,572,663 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACTGACAGCCCTATCTGG -3'
(R):5'- ACTCTTGAGGCTTACCCAGG -3'
Sequencing Primer
(F):5'- CCTATCTGGGCGCCCTG -3'
(R):5'- ATACGGCCGCTTCGTTGAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation