Incidental Mutation 'IGL03154:Lhx6'
| ID |
411206 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lhx6
|
| Ensembl Gene |
ENSMUSG00000026890 |
| Gene Name |
LIM homeobox protein 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
IGL03154
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
35971965-35995420 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 35984455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112960]
[ENSMUST00000112961]
[ENSMUST00000112963]
[ENSMUST00000112966]
[ENSMUST00000112967]
[ENSMUST00000136821]
[ENSMUST00000148852]
|
| AlphaFold |
Q9R1R0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000112960
|
| SMART Domains |
Protein: ENSMUSP00000108584
Gene: ENSMUSG00000026890
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
94 |
N/A |
INTRINSIC |
|
LIM
|
98 |
151 |
7.34e-13 |
SMART |
|
LIM
|
159 |
213 |
3.17e-17 |
SMART |
|
HOX
|
248 |
310 |
1.1e-23 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112961
|
| SMART Domains |
Protein: ENSMUSP00000108585
Gene: ENSMUSG00000026890
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
65 |
N/A |
INTRINSIC |
|
LIM
|
69 |
122 |
7.34e-13 |
SMART |
|
LIM
|
130 |
184 |
3.17e-17 |
SMART |
|
HOX
|
219 |
281 |
1.1e-23 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112963
|
| SMART Domains |
Protein: ENSMUSP00000108587
Gene: ENSMUSG00000026890
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
65 |
N/A |
INTRINSIC |
|
LIM
|
69 |
122 |
7.34e-13 |
SMART |
|
LIM
|
130 |
184 |
3.17e-17 |
SMART |
|
HOX
|
219 |
281 |
1.1e-23 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112966
|
| SMART Domains |
Protein: ENSMUSP00000108590
Gene: ENSMUSG00000026890
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
65 |
N/A |
INTRINSIC |
|
LIM
|
69 |
122 |
7.34e-13 |
SMART |
|
LIM
|
130 |
184 |
3.17e-17 |
SMART |
|
HOX
|
219 |
281 |
1.1e-23 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112967
|
| SMART Domains |
Protein: ENSMUSP00000108591
Gene: ENSMUSG00000026890
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
94 |
N/A |
INTRINSIC |
|
LIM
|
98 |
151 |
7.34e-13 |
SMART |
|
LIM
|
159 |
213 |
3.17e-17 |
SMART |
|
HOX
|
248 |
310 |
1.1e-23 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000136821
|
| SMART Domains |
Protein: ENSMUSP00000135776
Gene: ENSMUSG00000026890
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
10 |
64 |
3.17e-17 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148852
|
| SMART Domains |
Protein: ENSMUSP00000135693
Gene: ENSMUSG00000026890
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
65 |
N/A |
INTRINSIC |
|
LIM
|
69 |
122 |
7.34e-13 |
SMART |
|
LIM
|
130 |
184 |
3.17e-17 |
SMART |
|
HOX
|
219 |
281 |
1.1e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187180
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large protein family that contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein has tandem LIM domains as well as a DNA-binding homeodomain. The protein functions as a transcription factor involved in embryogenesis and head development and is highly expressed in neural crest derived mesenchyme cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous mutation of this gene results in impaired migration and specification of cortical interneurons, postnatal lethality and weakness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
A |
G |
19: 20,608,132 (GRCm39) |
E318G |
probably benign |
Het |
| Alpi |
A |
T |
1: 87,027,810 (GRCm39) |
W257R |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,800,268 (GRCm39) |
E1253G |
probably damaging |
Het |
| Fbxw13 |
G |
T |
9: 109,010,533 (GRCm39) |
F368L |
probably damaging |
Het |
| H2-T9 |
T |
A |
17: 36,438,767 (GRCm39) |
N208I |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,851,907 (GRCm39) |
D3655E |
probably damaging |
Het |
| Hkdc1 |
T |
A |
10: 62,221,484 (GRCm39) |
D858V |
probably damaging |
Het |
| Ifi205 |
A |
C |
1: 173,845,232 (GRCm39) |
|
probably benign |
Het |
| Ighv10-3 |
T |
A |
12: 114,487,507 (GRCm39) |
M1L |
probably benign |
Het |
| Igkv4-90 |
C |
T |
6: 68,784,256 (GRCm39) |
G87R |
probably damaging |
Het |
| Insc |
G |
A |
7: 114,441,424 (GRCm39) |
G413S |
probably null |
Het |
| Iqch |
T |
A |
9: 63,361,964 (GRCm39) |
T850S |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,707 (GRCm39) |
Y137C |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,379,386 (GRCm39) |
S109P |
probably damaging |
Het |
| Mroh1 |
T |
C |
15: 76,337,038 (GRCm39) |
L1617P |
probably damaging |
Het |
| Or11g24 |
A |
T |
14: 50,662,080 (GRCm39) |
I35F |
probably benign |
Het |
| Or1j17 |
A |
T |
2: 36,578,655 (GRCm39) |
I214F |
possibly damaging |
Het |
| Or4d1 |
A |
T |
11: 87,805,072 (GRCm39) |
V220D |
possibly damaging |
Het |
| Or52b3 |
G |
T |
7: 102,203,913 (GRCm39) |
V141L |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,223,857 (GRCm39) |
V727A |
possibly damaging |
Het |
| Ralgapb |
A |
G |
2: 158,274,786 (GRCm39) |
H229R |
probably damaging |
Het |
| Rusc2 |
G |
A |
4: 43,425,806 (GRCm39) |
G1304S |
probably benign |
Het |
| Sbsn |
A |
G |
7: 30,451,153 (GRCm39) |
N56S |
possibly damaging |
Het |
| Skint8 |
T |
A |
4: 111,796,707 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
A |
T |
13: 3,625,255 (GRCm39) |
M1565K |
possibly damaging |
Het |
| Uso1 |
C |
A |
5: 92,328,477 (GRCm39) |
S358* |
probably null |
Het |
|
| Other mutations in Lhx6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Lhx6
|
APN |
2 |
35,981,728 (GRCm39) |
splice site |
probably benign |
|
|
IGL01391:Lhx6
|
APN |
2 |
35,993,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01413:Lhx6
|
APN |
2 |
35,993,528 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1546:Lhx6
|
UTSW |
2 |
35,981,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1630:Lhx6
|
UTSW |
2 |
35,992,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Lhx6
|
UTSW |
2 |
35,977,470 (GRCm39) |
nonsense |
probably null |
|
|
R1786:Lhx6
|
UTSW |
2 |
35,977,470 (GRCm39) |
nonsense |
probably null |
|
|
R1792:Lhx6
|
UTSW |
2 |
35,977,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Lhx6
|
UTSW |
2 |
35,981,336 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2145:Lhx6
|
UTSW |
2 |
35,977,478 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2167:Lhx6
|
UTSW |
2 |
35,993,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2393:Lhx6
|
UTSW |
2 |
35,981,402 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5102:Lhx6
|
UTSW |
2 |
35,984,222 (GRCm39) |
splice site |
probably null |
|
|
R5418:Lhx6
|
UTSW |
2 |
35,977,378 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6735:Lhx6
|
UTSW |
2 |
35,981,390 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7462:Lhx6
|
UTSW |
2 |
35,974,083 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7546:Lhx6
|
UTSW |
2 |
35,993,357 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8870:Lhx6
|
UTSW |
2 |
35,995,232 (GRCm39) |
unclassified |
probably benign |
|
|
R9192:Lhx6
|
UTSW |
2 |
35,981,145 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9667:Lhx6
|
UTSW |
2 |
35,980,979 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2016-08-02 |
Incidental Mutation