Incidental Mutation 'IGL00471:Hlx'
ID |
7306 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hlx
|
Ensembl Gene |
ENSMUSG00000039377 |
Gene Name |
H2.0-like homeobox |
Synonyms |
Hlx1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00471
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
184459340-184464690 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 184463792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 183
(F183I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048572]
[ENSMUST00000174257]
|
AlphaFold |
Q61670 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048572
AA Change: F183I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040505 Gene: ENSMUSG00000039377 AA Change: F183I
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
low complexity region
|
123 |
149 |
N/A |
INTRINSIC |
low complexity region
|
157 |
168 |
N/A |
INTRINSIC |
HOX
|
271 |
335 |
2.32e-22 |
SMART |
low complexity region
|
353 |
379 |
N/A |
INTRINSIC |
low complexity region
|
405 |
434 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000174257
AA Change: F2I
|
SMART Domains |
Protein: ENSMUSP00000134728 Gene: ENSMUSG00000039377 AA Change: F2I
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
low complexity region
|
123 |
149 |
N/A |
INTRINSIC |
low complexity region
|
157 |
168 |
N/A |
INTRINSIC |
low complexity region
|
221 |
271 |
N/A |
INTRINSIC |
low complexity region
|
344 |
357 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for disrputions in this gene die as embryos as a result of defective organogenesis and fetal hematopoiesis. [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 |
Adgrv1 |
A |
G |
13: 81,657,661 (GRCm39) |
V2793A |
probably damaging |
Het |
Agbl2 |
A |
G |
2: 90,631,389 (GRCm39) |
Y249C |
probably damaging |
Het |
Anks1 |
T |
C |
17: 28,277,390 (GRCm39) |
S1082P |
possibly damaging |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
C4b |
T |
G |
17: 34,953,403 (GRCm39) |
T1027P |
probably damaging |
Het |
Clec4d |
A |
T |
6: 123,251,732 (GRCm39) |
I205F |
probably damaging |
Het |
Cpeb2 |
A |
T |
5: 43,443,174 (GRCm39) |
Y955F |
probably damaging |
Het |
Cst13 |
T |
A |
2: 148,672,224 (GRCm39) |
M133K |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,871,405 (GRCm39) |
L2418P |
probably damaging |
Het |
Gli3 |
T |
C |
13: 15,898,354 (GRCm39) |
|
probably null |
Het |
Hgfac |
C |
A |
5: 35,203,870 (GRCm39) |
H463N |
probably damaging |
Het |
Ighv1-5 |
T |
G |
12: 114,477,093 (GRCm39) |
I70L |
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,837,838 (GRCm39) |
T1181A |
probably damaging |
Het |
Morn1 |
A |
C |
4: 155,176,785 (GRCm39) |
K140Q |
possibly damaging |
Het |
Nek1 |
A |
T |
8: 61,496,318 (GRCm39) |
M358L |
probably benign |
Het |
Pcbd2 |
C |
T |
13: 55,924,413 (GRCm39) |
|
probably benign |
Het |
Pramel7 |
A |
T |
2: 87,321,429 (GRCm39) |
L202Q |
probably damaging |
Het |
Shq1 |
A |
G |
6: 100,641,444 (GRCm39) |
S146P |
probably benign |
Het |
Slc25a21 |
T |
C |
12: 56,764,922 (GRCm39) |
|
probably null |
Het |
Slc26a7 |
A |
T |
4: 14,548,403 (GRCm39) |
|
probably benign |
Het |
Sspo |
G |
A |
6: 48,475,147 (GRCm39) |
|
probably benign |
Het |
Stam2 |
T |
C |
2: 52,610,947 (GRCm39) |
D25G |
probably damaging |
Het |
Tbx18 |
A |
T |
9: 87,587,676 (GRCm39) |
D480E |
possibly damaging |
Het |
Tmem26 |
A |
T |
10: 68,614,511 (GRCm39) |
I309F |
possibly damaging |
Het |
Ube2c |
A |
G |
2: 164,613,213 (GRCm39) |
T44A |
probably benign |
Het |
|
Other mutations in Hlx |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01074:Hlx
|
APN |
1 |
184,460,010 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02543:Hlx
|
APN |
1 |
184,462,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R0522:Hlx
|
UTSW |
1 |
184,463,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R1104:Hlx
|
UTSW |
1 |
184,464,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R1157:Hlx
|
UTSW |
1 |
184,464,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R1158:Hlx
|
UTSW |
1 |
184,464,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R1285:Hlx
|
UTSW |
1 |
184,464,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R1286:Hlx
|
UTSW |
1 |
184,464,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R1439:Hlx
|
UTSW |
1 |
184,464,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R1489:Hlx
|
UTSW |
1 |
184,464,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R1606:Hlx
|
UTSW |
1 |
184,464,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R1974:Hlx
|
UTSW |
1 |
184,464,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R1976:Hlx
|
UTSW |
1 |
184,464,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R2161:Hlx
|
UTSW |
1 |
184,459,838 (GRCm39) |
missense |
probably benign |
0.12 |
R2162:Hlx
|
UTSW |
1 |
184,462,889 (GRCm39) |
splice site |
probably null |
|
R2340:Hlx
|
UTSW |
1 |
184,464,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R2341:Hlx
|
UTSW |
1 |
184,464,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R3237:Hlx
|
UTSW |
1 |
184,464,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R3781:Hlx
|
UTSW |
1 |
184,464,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R3782:Hlx
|
UTSW |
1 |
184,464,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R5705:Hlx
|
UTSW |
1 |
184,463,062 (GRCm39) |
missense |
probably benign |
0.40 |
R5738:Hlx
|
UTSW |
1 |
184,463,754 (GRCm39) |
critical splice donor site |
probably null |
|
R6081:Hlx
|
UTSW |
1 |
184,459,894 (GRCm39) |
missense |
probably benign |
|
R7323:Hlx
|
UTSW |
1 |
184,462,993 (GRCm39) |
missense |
probably benign |
0.00 |
R7373:Hlx
|
UTSW |
1 |
184,463,062 (GRCm39) |
missense |
probably benign |
0.40 |
R7908:Hlx
|
UTSW |
1 |
184,459,773 (GRCm39) |
missense |
probably benign |
|
R7938:Hlx
|
UTSW |
1 |
184,464,125 (GRCm39) |
missense |
probably benign |
0.00 |
R7985:Hlx
|
UTSW |
1 |
184,464,223 (GRCm39) |
missense |
probably benign |
0.00 |
R8303:Hlx
|
UTSW |
1 |
184,459,905 (GRCm39) |
missense |
probably damaging |
1.00 |
X0018:Hlx
|
UTSW |
1 |
184,459,929 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Posted On |
2012-04-20 |