Incidental Mutation 'R8373:Lhx8'
| ID |
646534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lhx8
|
| Ensembl Gene |
ENSMUSG00000096225 |
| Gene Name |
LIM homeobox protein 8 |
| Synonyms |
L3, Lhx7 |
| MMRRC Submission |
067741-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.314)
|
| Stock # |
R8373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
154306294-154330659 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 154324658 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 112
(N112K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177846]
[ENSMUST00000204171]
[ENSMUST00000204403]
[ENSMUST00000205251]
|
| AlphaFold |
O35652 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177846
AA Change: N112K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136047
Gene: ENSMUSG00000096225
AA Change: N112K
| 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 |
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: N81K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145516
Gene: ENSMUSG00000096225
AA Change: N81K
| 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: N81K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145485
Gene: ENSMUSG00000096225
AA Change: N81K
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210010C04Rik |
T |
G |
6: 41,031,688 (GRCm38) |
T231P |
possibly damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,467,334 (GRCm38) |
T290A |
probably benign |
Het |
| Aff4 |
C |
T |
11: 53,400,267 (GRCm38) |
Q685* |
probably null |
Het |
| Ankmy1 |
A |
G |
1: 92,896,094 (GRCm38) |
M150T |
probably damaging |
Het |
| Armc1 |
T |
C |
3: 19,149,567 (GRCm38) |
Y65C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,527,099 (GRCm38) |
V222A |
probably benign |
Het |
| Bcar1 |
A |
T |
8: 111,715,738 (GRCm38) |
Y228* |
probably null |
Het |
| Cct2 |
T |
C |
10: 117,060,824 (GRCm38) |
D158G |
possibly damaging |
Het |
| Cul1 |
T |
A |
6: 47,515,063 (GRCm38) |
C426S |
possibly damaging |
Het |
| Deup1 |
G |
T |
9: 15,592,375 (GRCm38) |
L297M |
possibly damaging |
Het |
| Dpp10 |
A |
G |
1: 123,854,229 (GRCm38) |
S74P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,507,079 (GRCm38) |
Y98H |
possibly damaging |
Het |
| Epn3 |
T |
G |
11: 94,492,936 (GRCm38) |
D296A |
probably damaging |
Het |
| Eri2 |
A |
C |
7: 119,772,597 (GRCm38) |
I252S |
probably benign |
Het |
| Gm14025 |
T |
A |
2: 129,038,171 (GRCm38) |
I612F |
|
Het |
| Gp9 |
C |
T |
6: 87,779,012 (GRCm38) |
T3I |
probably benign |
Het |
| H2-Q5 |
T |
A |
17: 35,394,456 (GRCm38) |
V55E |
|
Het |
| Kif3c |
G |
T |
12: 3,366,089 (GRCm38) |
V37L |
probably benign |
Het |
| Lct |
A |
T |
1: 128,303,840 (GRCm38) |
N757K |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,048,891 (GRCm38) |
S373R |
possibly damaging |
Het |
| Mettl4 |
G |
A |
17: 94,733,649 (GRCm38) |
T359I |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,444,096 (GRCm38) |
S109P |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 126,026,295 (GRCm38) |
V840A |
probably benign |
Het |
| Ncoa4 |
T |
A |
14: 32,176,936 (GRCm38) |
L571Q |
probably damaging |
Het |
| Olfr453 |
T |
C |
6: 42,744,346 (GRCm38) |
F103S |
probably damaging |
Het |
| Olfr46 |
A |
T |
7: 140,610,295 (GRCm38) |
Y35F |
possibly damaging |
Het |
| Phgdh |
G |
A |
3: 98,321,245 (GRCm38) |
T204I |
probably damaging |
Het |
| Pla2g4d |
C |
T |
2: 120,277,499 (GRCm38) |
V310M |
probably null |
Het |
| Psmd12 |
C |
T |
11: 107,497,624 (GRCm38) |
P421L |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,541,168 (GRCm38) |
Y432H |
probably damaging |
Het |
| Rapgef1 |
G |
A |
2: 29,710,231 (GRCm38) |
G655S |
probably damaging |
Het |
| Rilpl2 |
C |
A |
5: 124,478,034 (GRCm38) |
A18S |
probably damaging |
Het |
| Srsf7 |
T |
C |
17: 80,205,386 (GRCm38) |
R88G |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,769,233 (GRCm38) |
K85E |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,795,767 (GRCm38) |
S49R |
probably damaging |
Het |
| Wdr48 |
A |
G |
9: 119,905,494 (GRCm38) |
T160A |
probably damaging |
Het |
| Zfp704 |
G |
A |
3: 9,609,442 (GRCm38) |
T93M |
unknown |
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 |
|
IGL01991:Lhx8
|
APN |
3 |
154,324,554 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTGCAAAAGGCCCTGTTAC -3'
(R):5'- TCAGGTTTTCTCAGAGAGGAAGGG -3'
Sequencing Primer
(F):5'- TGCAAAAGGCCCTGTTACAAAAGTC -3'
(R):5'- TATGGAAGAAAACCCAAATCCTTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation