Incidental Mutation 'IGL01806:Lhx8'
| ID |
155675 |
| 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: 0.305)
|
| Stock # |
IGL01806
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
154011925-154036190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 154027992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 156
(S156P)
|
| 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: S187P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136047
Gene: ENSMUSG00000096225
AA Change: S187P
| 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: S156P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145516
Gene: ENSMUSG00000096225
AA Change: S156P
| 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: S156P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145485
Gene: ENSMUSG00000096225
AA Change: S156P
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
C |
8: 95,739,559 (GRCm39) |
S670P |
probably damaging |
Het |
| Ap5m1 |
T |
A |
14: 49,317,797 (GRCm39) |
F351L |
probably damaging |
Het |
| Cacnb2 |
A |
G |
2: 14,619,079 (GRCm39) |
Y38C |
probably damaging |
Het |
| Ccdc28a |
C |
T |
10: 18,095,262 (GRCm39) |
A151T |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,557,604 (GRCm39) |
E976G |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,525,264 (GRCm39) |
Y189C |
probably damaging |
Het |
| Dbt |
T |
C |
3: 116,326,954 (GRCm39) |
V101A |
probably damaging |
Het |
| Evc |
A |
G |
5: 37,477,578 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
A |
G |
2: 130,457,532 (GRCm39) |
Y353H |
probably benign |
Het |
| Gm6408 |
G |
A |
5: 146,418,892 (GRCm39) |
R30H |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,300,686 (GRCm39) |
I1449M |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,728,719 (GRCm39) |
V27E |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,307,363 (GRCm39) |
V226A |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,577,246 (GRCm39) |
S1076P |
possibly damaging |
Het |
| Or52z14 |
C |
T |
7: 103,253,548 (GRCm39) |
A229V |
probably benign |
Het |
| Or6ae1 |
G |
T |
7: 139,742,841 (GRCm39) |
N7K |
probably benign |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,548 (GRCm39) |
D228G |
possibly damaging |
Het |
| Pias3 |
T |
C |
3: 96,611,073 (GRCm39) |
S414P |
probably benign |
Het |
| Plcd4 |
G |
A |
1: 74,591,192 (GRCm39) |
V196I |
probably benign |
Het |
| Proca1 |
A |
G |
11: 78,095,737 (GRCm39) |
D123G |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,254,915 (GRCm39) |
|
probably null |
Het |
| Ptprq |
C |
A |
10: 107,535,469 (GRCm39) |
R432L |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,838,475 (GRCm39) |
K108E |
possibly damaging |
Het |
| Siglecg |
A |
G |
7: 43,060,888 (GRCm39) |
|
probably null |
Het |
| Srpra |
A |
G |
9: 35,126,201 (GRCm39) |
T465A |
possibly damaging |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Zeb1 |
G |
A |
18: 5,767,867 (GRCm39) |
V793M |
possibly damaging |
Het |
|
| Other mutations in Lhx8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01991:Lhx8
|
APN |
3 |
154,030,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0463:Lhx8
|
UTSW |
3 |
154,033,808 (GRCm39) |
splice site |
probably null |
|
|
R1449:Lhx8
|
UTSW |
3 |
154,033,742 (GRCm39) |
nonsense |
probably null |
|
|
R1837:Lhx8
|
UTSW |
3 |
154,033,692 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2272:Lhx8
|
UTSW |
3 |
154,022,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3196:Lhx8
|
UTSW |
3 |
154,035,925 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4900:Lhx8
|
UTSW |
3 |
154,035,925 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5120:Lhx8
|
UTSW |
3 |
154,017,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5223:Lhx8
|
UTSW |
3 |
154,027,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5587:Lhx8
|
UTSW |
3 |
154,017,316 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6046:Lhx8
|
UTSW |
3 |
154,027,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Lhx8
|
UTSW |
3 |
154,030,221 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7800:Lhx8
|
UTSW |
3 |
154,027,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Lhx8
|
UTSW |
3 |
154,017,174 (GRCm39) |
missense |
probably null |
0.00 |
|
R8039:Lhx8
|
UTSW |
3 |
154,012,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8373:Lhx8
|
UTSW |
3 |
154,030,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8768:Lhx8
|
UTSW |
3 |
154,027,886 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8899:Lhx8
|
UTSW |
3 |
154,033,653 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8938:Lhx8
|
UTSW |
3 |
154,028,024 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9135:Lhx8
|
UTSW |
3 |
154,034,063 (GRCm39) |
missense |
probably benign |
|
|
R9488:Lhx8
|
UTSW |
3 |
154,033,764 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
X0028:Lhx8
|
UTSW |
3 |
154,030,212 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2014-02-04 |
Incidental Mutation