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: 0.305)
|
Stock # |
R8373 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
154011925-154036190 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 154030295 bp (GRCm39)
|
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 |
Adgrg6 |
T |
C |
10: 14,343,078 (GRCm39) |
T290A |
probably benign |
Het |
Aff4 |
C |
T |
11: 53,291,094 (GRCm39) |
Q685* |
probably null |
Het |
Ankmy1 |
A |
G |
1: 92,823,816 (GRCm39) |
M150T |
probably damaging |
Het |
Armc1 |
T |
C |
3: 19,203,731 (GRCm39) |
Y65C |
probably damaging |
Het |
Armc8 |
A |
G |
9: 99,409,152 (GRCm39) |
V222A |
probably benign |
Het |
Bcar1 |
A |
T |
8: 112,442,370 (GRCm39) |
Y228* |
probably null |
Het |
Cct2 |
T |
C |
10: 116,896,729 (GRCm39) |
D158G |
possibly damaging |
Het |
Cul1 |
T |
A |
6: 47,491,997 (GRCm39) |
C426S |
possibly damaging |
Het |
Deup1 |
G |
T |
9: 15,503,671 (GRCm39) |
L297M |
possibly damaging |
Het |
Dpp10 |
A |
G |
1: 123,781,958 (GRCm39) |
S74P |
possibly damaging |
Het |
Epha4 |
A |
G |
1: 77,483,716 (GRCm39) |
Y98H |
possibly damaging |
Het |
Epn3 |
T |
G |
11: 94,383,762 (GRCm39) |
D296A |
probably damaging |
Het |
Eri2 |
A |
C |
7: 119,371,820 (GRCm39) |
I252S |
probably benign |
Het |
Gp9 |
C |
T |
6: 87,755,994 (GRCm39) |
T3I |
probably benign |
Het |
H2-Q5 |
T |
A |
17: 35,613,432 (GRCm39) |
V55E |
|
Het |
Kif3c |
G |
T |
12: 3,416,089 (GRCm39) |
V37L |
probably benign |
Het |
Lct |
A |
T |
1: 128,231,577 (GRCm39) |
N757K |
probably damaging |
Het |
Loxl3 |
T |
A |
6: 83,025,872 (GRCm39) |
S373R |
possibly damaging |
Het |
Mettl4 |
G |
A |
17: 95,041,077 (GRCm39) |
T359I |
probably damaging |
Het |
Mpp7 |
A |
G |
18: 7,444,096 (GRCm39) |
S109P |
probably damaging |
Het |
Nckap5 |
A |
G |
1: 125,954,032 (GRCm39) |
V840A |
probably benign |
Het |
Ncoa4 |
T |
A |
14: 31,898,893 (GRCm39) |
L571Q |
probably damaging |
Het |
Or13a18 |
A |
T |
7: 140,190,208 (GRCm39) |
Y35F |
possibly damaging |
Het |
Or2f1 |
T |
C |
6: 42,721,280 (GRCm39) |
F103S |
probably damaging |
Het |
Phgdh |
G |
A |
3: 98,228,561 (GRCm39) |
T204I |
probably damaging |
Het |
Pla2g4d |
C |
T |
2: 120,107,980 (GRCm39) |
V310M |
probably null |
Het |
Prss3b |
T |
G |
6: 41,008,622 (GRCm39) |
T231P |
possibly damaging |
Het |
Psmd12 |
C |
T |
11: 107,388,450 (GRCm39) |
P421L |
probably damaging |
Het |
Ptch1 |
A |
G |
13: 63,688,982 (GRCm39) |
Y432H |
probably damaging |
Het |
Rapgef1 |
G |
A |
2: 29,600,243 (GRCm39) |
G655S |
probably damaging |
Het |
Rilpl2 |
C |
A |
5: 124,616,097 (GRCm39) |
A18S |
probably damaging |
Het |
Srsf7 |
T |
C |
17: 80,512,815 (GRCm39) |
R88G |
probably benign |
Het |
St6galnac1 |
T |
C |
11: 116,660,059 (GRCm39) |
K85E |
possibly damaging |
Het |
Trip12 |
A |
T |
1: 84,773,488 (GRCm39) |
S49R |
probably damaging |
Het |
Vinac1 |
T |
A |
2: 128,880,091 (GRCm39) |
I612F |
|
Het |
Wdr48 |
A |
G |
9: 119,734,560 (GRCm39) |
T160A |
probably damaging |
Het |
Zfp704 |
G |
A |
3: 9,674,502 (GRCm39) |
T93M |
unknown |
Het |
|
Other mutations in Lhx8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01806:Lhx8
|
APN |
3 |
154,027,992 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
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 |