Incidental Mutation 'IGL00955:Lhx9'
| ID | 26700 |
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| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Lhx9
|
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| Ensembl Gene |
ENSMUSG00000019230 |
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| Gene Name | LIM homeobox protein 9 |
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| Synonyms | 3110009O07Rik, Lhx9 alpha, LH2B |
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| Accession Numbers | |
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| Is this an essential gene? |
Probably essential (E-score: 0.817)
|
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| Stock # | IGL00955
|
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| Quality Score | |
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| Status |
|
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| Chromosome | 1 |
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| Chromosomal Location | 138825186-138848577 bp(-) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to C
at 138828680 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Threonine to Alanine
at position 323
(T323A)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000019374
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019374]
[ENSMUST00000046870]
[ENSMUST00000093486]
[ENSMUST00000112026]
[ENSMUST00000112030]
[ENSMUST00000194557]
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019374
AA Change: T323A
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
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| SMART Domains |
Protein: ENSMUSP00000019374
Gene: ENSMUSG00000019230
AA Change: T323A
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
70 |
123 |
4.48e-17 |
SMART |
|
LIM
|
132 |
186 |
8.04e-19 |
SMART |
|
HOX
|
267 |
319 |
1.89e-4 |
SMART |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000046870
|
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| SMART Domains |
Protein: ENSMUSP00000036480
Gene: ENSMUSG00000019230
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
61 |
114 |
4.48e-17 |
SMART |
|
LIM
|
123 |
177 |
8.04e-19 |
SMART |
|
HOX
|
258 |
320 |
8.07e-22 |
SMART |
|
low complexity region
|
344 |
368 |
N/A |
INTRINSIC |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000093486
AA Change: T314A
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
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| SMART Domains |
Protein: ENSMUSP00000091198
Gene: ENSMUSG00000019230
AA Change: T314A
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
61 |
114 |
4.48e-17 |
SMART |
|
LIM
|
123 |
177 |
8.04e-19 |
SMART |
|
HOX
|
258 |
310 |
1.89e-4 |
SMART |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000112026
|
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| SMART Domains |
Protein: ENSMUSP00000107657
Gene: ENSMUSG00000019230
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
70 |
123 |
4.48e-17 |
SMART |
|
LIM
|
132 |
186 |
8.04e-19 |
SMART |
|
HOX
|
267 |
329 |
8.07e-22 |
SMART |
|
low complexity region
|
353 |
377 |
N/A |
INTRINSIC |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000112030
AA Change: T314A
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
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| SMART Domains |
Protein: ENSMUSP00000107661
Gene: ENSMUSG00000019230
AA Change: T314A
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
61 |
114 |
4.48e-17 |
SMART |
|
LIM
|
123 |
177 |
8.04e-19 |
SMART |
|
HOX
|
258 |
310 |
1.89e-4 |
SMART |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192425
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000194557
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
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| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LIM homeobox gene family of developmentally expressed transcription factors. The encoded protein contains a homeodomain and two cysteine-rich zinc-binding LIM domains involved in protein-protein interactions. The protein is highly similar to a mouse protein that causes gonadal agenesis when inactivated, suggesting a role in gonadal development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit failed proliferation of the somatic cells of the genital ridge resulting in lack of discrete gonad formation, infertility in both sexes, and female-like genitalia in genetically male mice. [provided by MGI curators]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl11 |
A |
T |
14: 61,311,242 |
Q167L |
probably benign |
Het |
| Ces3a |
T |
A |
8: 105,050,570 |
V175E |
probably damaging |
Het |
| Cherp |
C |
T |
8: 72,470,194 |
E140K |
probably damaging |
Het |
| Clpx |
A |
T |
9: 65,324,270 |
T546S |
probably damaging |
Het |
| Csgalnact2 |
A |
G |
6: 118,129,264 |
L31P |
probably damaging |
Het |
| Cxcr1 |
A |
T |
1: 74,192,220 |
F214L |
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,643,385 |
T123S |
possibly damaging |
Het |
| Dbt |
G |
A |
3: 116,546,114 |
G384S |
probably benign |
Het |
| Dzank1 |
G |
A |
2: 144,490,174 |
T414I |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,748,519 |
I641V |
probably benign |
Het |
| Gtf2e1 |
A |
T |
16: 37,535,920 |
D83E |
possibly damaging |
Het |
| Hars2 |
T |
C |
18: 36,789,357 |
|
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,649,902 |
R517L |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,324,966 |
D372G |
probably damaging |
Het |
| Kcnk2 |
A |
T |
1: 189,243,014 |
I264N |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 75,963,228 |
D213G |
probably damaging |
Het |
| Lilra6 |
C |
A |
7: 3,911,404 |
|
probably benign |
Het |
| Meig1 |
T |
C |
2: 3,409,274 |
D63G |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,994,989 |
Y184C |
probably damaging |
Het |
| Mrpl24 |
T |
A |
3: 87,922,219 |
L91* |
probably null |
Het |
| Mup11 |
C |
T |
4: 60,659,550 |
R175H |
probably benign |
Het |
| Nbea |
T |
C |
3: 56,005,472 |
K965E |
possibly damaging |
Het |
| Olfr598 |
C |
A |
7: 103,329,321 |
H278Q |
probably damaging |
Het |
| Papss1 |
G |
A |
3: 131,599,949 |
E252K |
probably benign |
Het |
| Robo2 |
A |
T |
16: 74,015,972 |
L278Q |
probably damaging |
Het |
| Sned1 |
A |
T |
1: 93,274,403 |
I638F |
probably damaging |
Het |
| Spin1 |
T |
C |
13: 51,144,541 |
|
probably null |
Het |
| Taar9 |
T |
C |
10: 24,109,531 |
T2A |
probably benign |
Het |
| Tbc1d8b |
T |
C |
X: 139,725,880 |
|
probably null |
Het |
|
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| Other mutations in Lhx9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01624:Lhx9
|
APN |
1 |
138832783 |
nonsense |
probably null |
|
|
IGL02149:Lhx9
|
APN |
1 |
138831434 |
missense |
probably damaging |
1.00 |
|
IGL02452:Lhx9
|
APN |
1 |
138841842 |
missense |
probably damaging |
1.00 |
|
IGL02982:Lhx9
|
APN |
1 |
138838611 |
missense |
probably damaging |
1.00 |
|
R0123:Lhx9
|
UTSW |
1 |
138838679 |
missense |
probably damaging |
1.00 |
|
R0134:Lhx9
|
UTSW |
1 |
138838679 |
missense |
probably damaging |
1.00 |
|
R0141:Lhx9
|
UTSW |
1 |
138840006 |
missense |
possibly damaging |
0.86 |
|
R0225:Lhx9
|
UTSW |
1 |
138838679 |
missense |
probably damaging |
1.00 |
|
R0281:Lhx9
|
UTSW |
1 |
138832904 |
missense |
probably benign |
0.00 |
|
R1460:Lhx9
|
UTSW |
1 |
138838709 |
splice site |
probably benign |
|
|
R1932:Lhx9
|
UTSW |
1 |
138842009 |
start gained |
probably benign |
|
|
R4738:Lhx9
|
UTSW |
1 |
138832748 |
missense |
probably damaging |
1.00 |
|
R4792:Lhx9
|
UTSW |
1 |
138838351 |
missense |
possibly damaging |
0.87 |
|
R4820:Lhx9
|
UTSW |
1 |
138838367 |
missense |
probably benign |
0.00 |
|
R4877:Lhx9
|
UTSW |
1 |
138838354 |
missense |
probably benign |
0.04 |
|
R6035:Lhx9
|
UTSW |
1 |
138838543 |
missense |
possibly damaging |
0.67 |
|
R6035:Lhx9
|
UTSW |
1 |
138838543 |
missense |
possibly damaging |
0.67 |
|
R6825:Lhx9
|
UTSW |
1 |
138841806 |
frame shift |
probably null |
|
|
R6852:Lhx9
|
UTSW |
1 |
138841806 |
frame shift |
probably null |
|
|
R6853:Lhx9
|
UTSW |
1 |
138841806 |
frame shift |
probably null |
|
|
R7264:Lhx9
|
UTSW |
1 |
138832751 |
missense |
probably damaging |
0.98 |
|
R8097:Lhx9
|
UTSW |
1 |
138838351 |
missense |
probably damaging |
0.97 |
|
R8164:Lhx9
|
UTSW |
1 |
138832780 |
missense |
probably damaging |
1.00 |
|
R8245:Lhx9
|
UTSW |
1 |
138838441 |
missense |
probably benign |
0.24 |
|
R8278:Lhx9
|
UTSW |
1 |
138838586 |
missense |
probably damaging |
0.98 |
|
Z1177:Lhx9
|
UTSW |
1 |
138831498 |
missense |
probably damaging |
0.99 |
|
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| Posted On | 2013-04-17 |
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