Incidental Mutation 'IGL01624:Lhx9'
| ID |
92649 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lhx9
|
| Ensembl Gene |
ENSMUSG00000019230 |
| Gene Name |
LIM homeobox protein 9 |
| Synonyms |
3110009O07Rik, Lhx9 alpha, LH2B |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
IGL01624
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
138752924-138776315 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 138760521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 276
(Y276*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107661
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019374]
[ENSMUST00000046870]
[ENSMUST00000093486]
[ENSMUST00000112026]
[ENSMUST00000112030]
[ENSMUST00000194557]
|
| AlphaFold |
Q9WUH2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019374
AA Change: Y285*
|
| SMART Domains |
Protein: ENSMUSP00000019374
Gene: ENSMUSG00000019230
AA Change: Y285*
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000046870
AA Change: Y276*
|
| SMART Domains |
Protein: ENSMUSP00000036480
Gene: ENSMUSG00000019230
AA Change: Y276*
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000093486
AA Change: Y276*
|
| SMART Domains |
Protein: ENSMUSP00000091198
Gene: ENSMUSG00000019230
AA Change: Y276*
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112026
AA Change: Y285*
|
| SMART Domains |
Protein: ENSMUSP00000107657
Gene: ENSMUSG00000019230
AA Change: Y285*
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112030
AA Change: Y276*
|
| SMART Domains |
Protein: ENSMUSP00000107661
Gene: ENSMUSG00000019230
AA Change: Y276*
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192425
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194557
|
| 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 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,341,205 (GRCm39) |
T18I |
probably damaging |
Het |
| Acod1 |
A |
G |
14: 103,292,669 (GRCm39) |
T398A |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,542,163 (GRCm39) |
V853A |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,791,066 (GRCm39) |
S2488P |
probably damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,432,814 (GRCm39) |
I578V |
probably benign |
Het |
| Atp2c2 |
A |
C |
8: 120,484,189 (GRCm39) |
R933S |
probably benign |
Het |
| Cyp26a1 |
A |
T |
19: 37,686,781 (GRCm39) |
I78F |
possibly damaging |
Het |
| Gck |
A |
G |
11: 5,853,106 (GRCm39) |
V338A |
possibly damaging |
Het |
| Ints6 |
A |
T |
14: 62,934,320 (GRCm39) |
M729K |
probably benign |
Het |
| Kank2 |
C |
A |
9: 21,691,676 (GRCm39) |
G500W |
probably damaging |
Het |
| Kansl1 |
G |
A |
11: 104,315,378 (GRCm39) |
T220I |
probably benign |
Het |
| Lgi4 |
T |
C |
7: 30,767,113 (GRCm39) |
L380P |
probably damaging |
Het |
| Lipm |
T |
A |
19: 34,098,545 (GRCm39) |
Y340N |
probably damaging |
Het |
| Mlxip |
A |
G |
5: 123,533,392 (GRCm39) |
T134A |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,964,153 (GRCm39) |
I1246F |
probably damaging |
Het |
| Or14j3 |
A |
T |
17: 37,900,816 (GRCm39) |
W143R |
probably benign |
Het |
| Or6c69c |
T |
A |
10: 129,910,519 (GRCm39) |
L80H |
probably damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,574 (GRCm39) |
V76A |
probably benign |
Het |
| Rbm44 |
T |
A |
1: 91,084,380 (GRCm39) |
N601K |
probably damaging |
Het |
| Rgs4 |
T |
A |
1: 169,572,047 (GRCm39) |
Y84F |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,582,269 (GRCm39) |
T131A |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 23,998,969 (GRCm39) |
I121V |
probably benign |
Het |
| Slitrk5 |
T |
A |
14: 111,918,526 (GRCm39) |
Y717N |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,076,203 (GRCm39) |
S770P |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,069,399 (GRCm39) |
W516R |
probably damaging |
Het |
| Sugt1 |
A |
G |
14: 79,834,230 (GRCm39) |
N77S |
probably benign |
Het |
| Sumf1 |
C |
T |
6: 108,130,162 (GRCm39) |
D186N |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,712,790 (GRCm39) |
L709S |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,138,812 (GRCm39) |
I163K |
probably benign |
Het |
| Upf2 |
A |
T |
2: 6,038,990 (GRCm39) |
E287D |
probably benign |
Het |
| Usp17lb |
A |
G |
7: 104,491,720 (GRCm39) |
|
probably benign |
Het |
| Vmn2r10 |
G |
A |
5: 109,154,112 (GRCm39) |
S64F |
possibly damaging |
Het |
|
| Other mutations in Lhx9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00955:Lhx9
|
APN |
1 |
138,756,418 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02149:Lhx9
|
APN |
1 |
138,759,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02452:Lhx9
|
APN |
1 |
138,769,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02982:Lhx9
|
APN |
1 |
138,766,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0123:Lhx9
|
UTSW |
1 |
138,766,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0134:Lhx9
|
UTSW |
1 |
138,766,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0141:Lhx9
|
UTSW |
1 |
138,767,744 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0225:Lhx9
|
UTSW |
1 |
138,766,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Lhx9
|
UTSW |
1 |
138,760,642 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1460:Lhx9
|
UTSW |
1 |
138,766,447 (GRCm39) |
splice site |
probably benign |
|
|
R1932:Lhx9
|
UTSW |
1 |
138,769,747 (GRCm39) |
start gained |
probably benign |
|
|
R4738:Lhx9
|
UTSW |
1 |
138,760,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Lhx9
|
UTSW |
1 |
138,766,089 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4820:Lhx9
|
UTSW |
1 |
138,766,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4877:Lhx9
|
UTSW |
1 |
138,766,092 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6035:Lhx9
|
UTSW |
1 |
138,766,281 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6035:Lhx9
|
UTSW |
1 |
138,766,281 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6825:Lhx9
|
UTSW |
1 |
138,769,544 (GRCm39) |
frame shift |
probably null |
|
|
R6852:Lhx9
|
UTSW |
1 |
138,769,544 (GRCm39) |
frame shift |
probably null |
|
|
R6853:Lhx9
|
UTSW |
1 |
138,769,544 (GRCm39) |
frame shift |
probably null |
|
|
R7264:Lhx9
|
UTSW |
1 |
138,760,489 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8097:Lhx9
|
UTSW |
1 |
138,766,089 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8164:Lhx9
|
UTSW |
1 |
138,760,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8245:Lhx9
|
UTSW |
1 |
138,766,179 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8278:Lhx9
|
UTSW |
1 |
138,766,324 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8951:Lhx9
|
UTSW |
1 |
138,769,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9761:Lhx9
|
UTSW |
1 |
138,774,934 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1177:Lhx9
|
UTSW |
1 |
138,759,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-12-09 |
Incidental Mutation