Incidental Mutation 'IGL01991:Lhx8'
| ID |
182875 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lhx8
|
| Ensembl Gene |
ENSMUSG00000096225 |
| Gene Name |
LIM homeobox protein 8 |
| Synonyms |
L3, Lhx7 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.314)
|
| Stock # |
IGL01991
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
154306294-154330659 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 154324554 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 116
(L116P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145485
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177846]
[ENSMUST00000204171]
[ENSMUST00000204403]
[ENSMUST00000205251]
|
| AlphaFold |
O35652 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177846
AA Change: L147P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136047
Gene: ENSMUSG00000096225
AA Change: L147P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
87 |
N/A |
INTRINSIC |
|
LIM
|
95 |
148 |
2.38e-12 |
SMART |
|
LIM
|
156 |
210 |
2.06e-16 |
SMART |
|
HOX
|
246 |
308 |
2.7e-23 |
SMART |
|
low complexity region
|
310 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203692
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204171
|
| SMART Domains |
Protein: ENSMUSP00000144708
Gene: ENSMUSG00000096225
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
31 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204403
AA Change: L116P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145516
Gene: ENSMUSG00000096225
AA Change: L116P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
56 |
N/A |
INTRINSIC |
|
LIM
|
64 |
117 |
2.38e-12 |
SMART |
|
LIM
|
125 |
179 |
2.06e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205251
AA Change: L116P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145485
Gene: ENSMUSG00000096225
AA Change: L116P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
56 |
N/A |
INTRINSIC |
|
LIM
|
64 |
117 |
2.38e-12 |
SMART |
|
LIM
|
125 |
179 |
2.06e-16 |
SMART |
|
HOX
|
215 |
277 |
2.7e-23 |
SMART |
|
low complexity region
|
279 |
290 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the LIM homeobox family of proteins, which are involved in patterning and differentiation of various tissue types. These proteins contain two tandemly repeated cysteine-rich double-zinc finger motifs known as LIM domains, in addition to a DNA-binding homeodomain. This family member is a transcription factor that plays a role in tooth morphogenesis. It is also involved in oogenesis and in neuronal differentiation. This gene is a candidate gene for cleft palate, and it is also associated with odontoma formation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null mice exhibit partial penetrance of a cleft secondary palate and neonatal lethality; those without cleft palate survive to adulthood. All homozygous null mice have decreased or absent forebrain cholinergic neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
A |
T |
6: 146,953,110 |
F145I |
probably benign |
Het |
| Acot7 |
A |
G |
4: 152,223,079 |
K152E |
possibly damaging |
Het |
| Adamts13 |
G |
T |
2: 26,990,598 |
G731V |
probably damaging |
Het |
| Als2cl |
C |
T |
9: 110,892,917 |
R584C |
probably benign |
Het |
| Apba1 |
T |
A |
19: 23,937,472 |
S679T |
possibly damaging |
Het |
| Asxl3 |
G |
A |
18: 22,516,162 |
V403I |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,913,378 |
T14A |
possibly damaging |
Het |
| Creb1 |
T |
C |
1: 64,559,754 |
F97L |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,753,017 |
H407Q |
probably benign |
Het |
| Crtac1 |
A |
T |
19: 42,414,121 |
L16Q |
possibly damaging |
Het |
| Cyp2c29 |
T |
C |
19: 39,330,315 |
I452T |
probably damaging |
Het |
| Dennd5b |
A |
T |
6: 149,080,824 |
D95E |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,113,618 |
P1002L |
probably damaging |
Het |
| Gm6878 |
G |
A |
14: 67,306,229 |
|
probably benign |
Het |
| Gm7682 |
A |
T |
5: 94,445,846 |
Q10L |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,699,681 |
Y1048C |
probably damaging |
Het |
| Iqcc |
T |
A |
4: 129,617,789 |
E105V |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,779,946 |
D1962G |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,429,569 |
M2215L |
unknown |
Het |
| Mapk8ip3 |
A |
T |
17: 24,927,861 |
L136Q |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,935,211 |
N1896D |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,755,012 |
E674G |
probably damaging |
Het |
| Olfr1045 |
T |
C |
2: 86,198,533 |
N73S |
probably benign |
Het |
| Olfr524 |
C |
T |
7: 140,202,432 |
E113K |
probably damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,401,926 |
|
probably null |
Het |
| Prom1 |
T |
C |
5: 44,047,506 |
T209A |
probably benign |
Het |
| Prom2 |
C |
A |
2: 127,529,222 |
C785F |
probably damaging |
Het |
| Psg20 |
T |
C |
7: 18,684,425 |
Q139R |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,552,869 |
C93S |
probably benign |
Het |
| Rassf2 |
C |
T |
2: 132,000,432 |
|
probably null |
Het |
| Scn11a |
A |
G |
9: 119,819,904 |
I31T |
probably damaging |
Het |
| Slc4a5 |
A |
T |
6: 83,263,543 |
D164V |
possibly damaging |
Het |
| Slco3a1 |
T |
C |
7: 74,284,396 |
D676G |
possibly damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,361,092 |
I208V |
probably benign |
Het |
| Traf4 |
T |
C |
11: 78,160,046 |
D428G |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,871,274 |
I586V |
possibly damaging |
Het |
| Unc80 |
T |
A |
1: 66,469,509 |
C46* |
probably null |
Het |
| Vmn2r89 |
A |
G |
14: 51,452,219 |
N60D |
probably benign |
Het |
| Wscd1 |
A |
T |
11: 71,787,723 |
K391* |
probably null |
Het |
| Wwc2 |
A |
T |
8: 47,869,866 |
L400* |
probably null |
Het |
|
| Other mutations in Lhx8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01806:Lhx8
|
APN |
3 |
154,322,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0463:Lhx8
|
UTSW |
3 |
154,328,171 (GRCm38) |
splice site |
probably null |
|
|
R1449:Lhx8
|
UTSW |
3 |
154,328,105 (GRCm38) |
nonsense |
probably null |
|
|
R1837:Lhx8
|
UTSW |
3 |
154,328,055 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2272:Lhx8
|
UTSW |
3 |
154,316,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3196:Lhx8
|
UTSW |
3 |
154,330,288 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4900:Lhx8
|
UTSW |
3 |
154,330,288 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5120:Lhx8
|
UTSW |
3 |
154,311,695 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5223:Lhx8
|
UTSW |
3 |
154,321,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5587:Lhx8
|
UTSW |
3 |
154,311,679 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6046:Lhx8
|
UTSW |
3 |
154,321,703 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7155:Lhx8
|
UTSW |
3 |
154,324,584 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7800:Lhx8
|
UTSW |
3 |
154,321,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7834:Lhx8
|
UTSW |
3 |
154,311,537 (GRCm38) |
missense |
probably null |
0.00 |
|
R8039:Lhx8
|
UTSW |
3 |
154,306,939 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8373:Lhx8
|
UTSW |
3 |
154,324,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8768:Lhx8
|
UTSW |
3 |
154,322,249 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8899:Lhx8
|
UTSW |
3 |
154,328,016 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8938:Lhx8
|
UTSW |
3 |
154,322,387 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R9135:Lhx8
|
UTSW |
3 |
154,328,426 (GRCm38) |
missense |
probably benign |
|
|
R9488:Lhx8
|
UTSW |
3 |
154,328,127 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
X0028:Lhx8
|
UTSW |
3 |
154,324,575 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2014-05-07 |
Incidental Mutation