Incidental Mutation 'IGL02149:Lhx9'
ID |
281918 |
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: 0.782)
|
Stock # |
IGL02149
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
138752924-138776315 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 138759172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 376
(V376E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107657
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019374]
[ENSMUST00000046870]
[ENSMUST00000093486]
[ENSMUST00000112026]
[ENSMUST00000112030]
[ENSMUST00000194557]
|
AlphaFold |
Q9WUH2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019374
|
SMART Domains |
Protein: ENSMUSP00000019374 Gene: ENSMUSG00000019230
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 damaging
Transcript: ENSMUST00000046870
AA Change: V367E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036480 Gene: ENSMUSG00000019230 AA Change: V367E
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 benign
Transcript: ENSMUST00000093486
|
SMART Domains |
Protein: ENSMUSP00000091198 Gene: ENSMUSG00000019230
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 damaging
Transcript: ENSMUST00000112026
AA Change: V376E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107657 Gene: ENSMUSG00000019230 AA Change: V376E
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 benign
Transcript: ENSMUST00000112030
|
SMART Domains |
Protein: ENSMUSP00000107661 Gene: ENSMUSG00000019230
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam10 |
A |
T |
9: 70,610,713 (GRCm39) |
H67L |
probably damaging |
Het |
Adgrb1 |
C |
T |
15: 74,412,326 (GRCm39) |
T435I |
probably damaging |
Het |
Adgrd1 |
T |
A |
5: 129,256,325 (GRCm39) |
F652Y |
probably damaging |
Het |
Adgrl4 |
T |
A |
3: 151,205,991 (GRCm39) |
F250Y |
possibly damaging |
Het |
Aebp2 |
C |
T |
6: 140,588,010 (GRCm39) |
A360V |
probably benign |
Het |
AW551984 |
A |
C |
9: 39,504,220 (GRCm39) |
M582R |
probably benign |
Het |
B430306N03Rik |
T |
C |
17: 48,624,020 (GRCm39) |
V107A |
probably benign |
Het |
Cage1 |
T |
C |
13: 38,206,505 (GRCm39) |
N447D |
probably damaging |
Het |
Col17a1 |
T |
C |
19: 47,657,071 (GRCm39) |
D524G |
probably benign |
Het |
Dpp6 |
A |
T |
5: 27,743,022 (GRCm39) |
I218F |
probably benign |
Het |
Ep300 |
T |
G |
15: 81,512,621 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
C |
T |
4: 136,421,225 (GRCm39) |
C375Y |
probably damaging |
Het |
Fastk |
A |
G |
5: 24,649,051 (GRCm39) |
V112A |
probably damaging |
Het |
Fbxo11 |
T |
A |
17: 88,301,187 (GRCm39) |
R775S |
possibly damaging |
Het |
Fbxw20 |
A |
G |
9: 109,062,886 (GRCm39) |
|
probably null |
Het |
Hamp2 |
G |
T |
7: 30,622,122 (GRCm39) |
A50E |
probably damaging |
Het |
Il22b |
C |
A |
10: 118,130,902 (GRCm39) |
|
probably benign |
Het |
Ints1 |
G |
A |
5: 139,737,715 (GRCm39) |
R2139C |
probably damaging |
Het |
Itgae |
T |
A |
11: 72,994,720 (GRCm39) |
V24E |
probably benign |
Het |
Jakmip3 |
G |
A |
7: 138,609,075 (GRCm39) |
V60M |
possibly damaging |
Het |
Kcnk10 |
A |
C |
12: 98,485,099 (GRCm39) |
|
probably benign |
Het |
Klra1 |
A |
T |
6: 130,352,293 (GRCm39) |
C150S |
probably damaging |
Het |
Mdm1 |
T |
A |
10: 117,983,970 (GRCm39) |
F199I |
probably damaging |
Het |
Nipal3 |
G |
T |
4: 135,194,163 (GRCm39) |
T290K |
possibly damaging |
Het |
Obsl1 |
C |
T |
1: 75,480,464 (GRCm39) |
E387K |
probably damaging |
Het |
Or8b43 |
A |
G |
9: 38,360,693 (GRCm39) |
H175R |
probably damaging |
Het |
Oxct1 |
A |
G |
15: 4,120,711 (GRCm39) |
Y265C |
probably damaging |
Het |
Pccb |
G |
A |
9: 100,867,243 (GRCm39) |
H411Y |
probably damaging |
Het |
Pkp1 |
A |
G |
1: 135,814,485 (GRCm39) |
S279P |
probably benign |
Het |
Prdm14 |
C |
A |
1: 13,195,663 (GRCm39) |
G133C |
probably benign |
Het |
Prkaa2 |
A |
T |
4: 104,897,285 (GRCm39) |
N309K |
probably benign |
Het |
Shc2 |
T |
C |
10: 79,458,102 (GRCm39) |
D527G |
probably damaging |
Het |
Shkbp1 |
C |
T |
7: 27,042,064 (GRCm39) |
|
probably benign |
Het |
Skil |
T |
C |
3: 31,151,856 (GRCm39) |
V126A |
possibly damaging |
Het |
Slc25a36 |
A |
T |
9: 96,975,122 (GRCm39) |
|
probably benign |
Het |
Slc2a13 |
T |
C |
15: 91,227,924 (GRCm39) |
T423A |
probably benign |
Het |
Spty2d1 |
A |
G |
7: 46,657,892 (GRCm39) |
|
probably benign |
Het |
Stag1 |
A |
G |
9: 100,769,442 (GRCm39) |
D519G |
probably benign |
Het |
Tmprss2 |
G |
T |
16: 97,400,479 (GRCm39) |
|
probably benign |
Het |
Trim66 |
G |
T |
7: 109,060,109 (GRCm39) |
T759K |
possibly damaging |
Het |
Trpc4ap |
C |
A |
2: 155,481,467 (GRCm39) |
A530S |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,642,099 (GRCm39) |
D11625E |
probably damaging |
Het |
Ube4b |
T |
C |
4: 149,483,141 (GRCm39) |
I42M |
possibly damaging |
Het |
Ubxn10 |
A |
G |
4: 138,448,584 (GRCm39) |
S31P |
probably benign |
Het |
Ubxn7 |
A |
G |
16: 32,194,088 (GRCm39) |
Y220C |
probably damaging |
Het |
Vmn1r234 |
A |
G |
17: 21,449,269 (GRCm39) |
Y61C |
probably benign |
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 |
IGL01624:Lhx9
|
APN |
1 |
138,760,521 (GRCm39) |
nonsense |
probably null |
|
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 |
2015-04-16 |