Incidental Mutation 'IGL00757:Lhx1'
| ID |
11756 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lhx1
|
| Ensembl Gene |
ENSMUSG00000018698 |
| Gene Name |
LIM homeobox protein 1 |
| Synonyms |
Lim1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00757
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
84409110-84416361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84410478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 373
(F373S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018842]
[ENSMUST00000092827]
[ENSMUST00000184646]
|
| AlphaFold |
P63006 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018842
AA Change: F373S
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000018842
Gene: ENSMUSG00000018698
AA Change: F373S
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
3 |
54 |
5.51e-17 |
SMART |
|
LIM
|
62 |
117 |
4.24e-18 |
SMART |
|
low complexity region
|
137 |
156 |
N/A |
INTRINSIC |
|
HOX
|
180 |
242 |
1.33e-22 |
SMART |
|
low complexity region
|
315 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
367 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092827
|
| SMART Domains |
Protein: ENSMUSP00000090503
Gene: ENSMUSG00000018698
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
18 |
73 |
4.24e-18 |
SMART |
|
low complexity region
|
93 |
112 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176503
|
| SMART Domains |
Protein: ENSMUSP00000135334
Gene: ENSMUSG00000018698
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Homeobox
|
1 |
17 |
5.3e-6 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184646
AA Change: F282S
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138899
Gene: ENSMUSG00000018698
AA Change: F282S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
65 |
N/A |
INTRINSIC |
|
HOX
|
89 |
151 |
6.8e-25 |
SMART |
|
low complexity region
|
224 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
276 |
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.] This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygotes for targeted null mutations are small, fail to develop head structures anterior to rhombomere 3 in the hindbrain, lack kidneys and gonads, and show aberrant trajectories of limb motor axons. Most mutants die around embryonic day 10. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
A |
C |
9: 54,530,003 (GRCm39) |
I231R |
possibly damaging |
Het |
| Ahctf1 |
G |
A |
1: 179,596,696 (GRCm39) |
P94S |
probably damaging |
Het |
| Cldn34b3 |
T |
C |
X: 75,310,978 (GRCm39) |
I182T |
possibly damaging |
Het |
| Cps1 |
T |
A |
1: 67,191,539 (GRCm39) |
|
probably benign |
Het |
| Cwf19l2 |
G |
T |
9: 3,460,054 (GRCm39) |
A781S |
probably damaging |
Het |
| Cyp4v3 |
T |
C |
8: 45,773,652 (GRCm39) |
I172M |
probably damaging |
Het |
| Fcgbpl1 |
T |
G |
7: 27,853,870 (GRCm39) |
C1611W |
probably damaging |
Het |
| Gmnc |
T |
G |
16: 26,782,689 (GRCm39) |
D22A |
probably damaging |
Het |
| Gpr89 |
T |
A |
3: 96,778,850 (GRCm39) |
T408S |
probably benign |
Het |
| Grk2 |
A |
G |
19: 4,339,339 (GRCm39) |
|
probably null |
Het |
| Kctd3 |
A |
G |
1: 188,704,393 (GRCm39) |
S793P |
probably damaging |
Het |
| Mgl2 |
A |
T |
11: 70,025,976 (GRCm39) |
I71F |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,234,302 (GRCm39) |
I91N |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,939,552 (GRCm39) |
D2110E |
probably damaging |
Het |
| Pde9a |
A |
G |
17: 31,662,146 (GRCm39) |
E90G |
probably benign |
Het |
| Plaat5 |
G |
T |
19: 7,591,924 (GRCm39) |
E113D |
possibly damaging |
Het |
| Prdm10 |
T |
C |
9: 31,229,842 (GRCm39) |
V86A |
possibly damaging |
Het |
| R3hdm1 |
T |
G |
1: 128,164,176 (GRCm39) |
I1030R |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,633,490 (GRCm39) |
|
probably null |
Het |
| Serpina1f |
A |
G |
12: 103,659,721 (GRCm39) |
I187T |
probably damaging |
Het |
| Slc22a16 |
C |
T |
10: 40,457,323 (GRCm39) |
T188M |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,901,440 (GRCm39) |
H1500R |
probably benign |
Het |
| Sptlc2 |
C |
T |
12: 87,415,842 (GRCm39) |
E62K |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,405,581 (GRCm39) |
S326T |
probably damaging |
Het |
| Tgif1 |
A |
G |
17: 71,153,235 (GRCm39) |
Y39H |
probably damaging |
Het |
|
| Other mutations in Lhx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1346:Lhx1
|
UTSW |
11 |
84,412,905 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1565:Lhx1
|
UTSW |
11 |
84,410,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1806:Lhx1
|
UTSW |
11 |
84,414,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2148:Lhx1
|
UTSW |
11 |
84,410,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2449:Lhx1
|
UTSW |
11 |
84,412,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3721:Lhx1
|
UTSW |
11 |
84,412,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3793:Lhx1
|
UTSW |
11 |
84,412,726 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4940:Lhx1
|
UTSW |
11 |
84,410,735 (GRCm39) |
nonsense |
probably null |
|
|
R5178:Lhx1
|
UTSW |
11 |
84,411,214 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5877:Lhx1
|
UTSW |
11 |
84,413,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6366:Lhx1
|
UTSW |
11 |
84,413,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6551:Lhx1
|
UTSW |
11 |
84,412,739 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7060:Lhx1
|
UTSW |
11 |
84,411,108 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7106:Lhx1
|
UTSW |
11 |
84,412,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7133:Lhx1
|
UTSW |
11 |
84,410,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7161:Lhx1
|
UTSW |
11 |
84,410,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7290:Lhx1
|
UTSW |
11 |
84,412,703 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8843:Lhx1
|
UTSW |
11 |
84,410,455 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2012-12-06 |
Incidental Mutation