Incidental Mutation 'R1158:Hlx'
ID |
101844 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hlx
|
Ensembl Gene |
ENSMUSG00000039377 |
Gene Name |
H2.0-like homeobox |
Synonyms |
Hlx1 |
MMRRC Submission |
039231-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1158 (G1)
|
Quality Score |
127 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
184459340-184464690 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 184464184 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 52
(A52D)
|
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: A52D
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000040505 Gene: ENSMUSG00000039377 AA Change: A52D
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 |
probably benign
Transcript: ENSMUST00000174257
|
SMART Domains |
Protein: ENSMUSP00000134728 Gene: ENSMUSG00000039377
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192139
|
Meta Mutation Damage Score |
0.0763 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
Validation Efficiency |
98% (43/44) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adpgk |
T |
C |
9: 59,217,566 (GRCm39) |
V193A |
possibly damaging |
Het |
Ahnak |
A |
C |
19: 8,991,290 (GRCm39) |
E4191D |
probably benign |
Het |
BC024139 |
T |
A |
15: 76,004,542 (GRCm39) |
|
probably benign |
Het |
Bpifb9a |
T |
G |
2: 154,104,184 (GRCm39) |
I209S |
probably benign |
Het |
Bst1 |
T |
G |
5: 43,997,834 (GRCm39) |
|
probably null |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Carf |
A |
G |
1: 60,186,998 (GRCm39) |
K499E |
probably benign |
Het |
Casq2 |
A |
G |
3: 102,024,199 (GRCm39) |
E147G |
probably damaging |
Het |
Cd8a |
T |
A |
6: 71,350,712 (GRCm39) |
V59D |
probably damaging |
Het |
Chrm5 |
T |
C |
2: 112,310,214 (GRCm39) |
T301A |
probably benign |
Het |
Cog5 |
G |
A |
12: 31,920,056 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
T |
C |
15: 48,156,170 (GRCm39) |
|
probably null |
Het |
Dop1a |
T |
C |
9: 86,367,609 (GRCm39) |
S31P |
probably damaging |
Het |
Eif1ad9 |
A |
T |
12: 88,296,438 (GRCm39) |
I139F |
unknown |
Het |
Epb41 |
T |
C |
4: 131,727,502 (GRCm39) |
|
probably benign |
Het |
Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
Gdpgp1 |
T |
C |
7: 79,888,250 (GRCm39) |
F94L |
probably benign |
Het |
Htr3b |
T |
C |
9: 48,847,390 (GRCm39) |
K375R |
possibly damaging |
Het |
Inhbe |
G |
A |
10: 127,187,186 (GRCm39) |
R77W |
probably damaging |
Het |
Itgb8 |
T |
C |
12: 119,166,231 (GRCm39) |
E100G |
probably damaging |
Het |
Jakmip1 |
T |
C |
5: 37,248,472 (GRCm39) |
V44A |
possibly damaging |
Het |
Lrp12 |
A |
G |
15: 39,741,827 (GRCm39) |
V315A |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,567,506 (GRCm39) |
T305S |
unknown |
Het |
Map3k2 |
A |
G |
18: 32,350,211 (GRCm39) |
T354A |
probably benign |
Het |
Mmp16 |
T |
C |
4: 17,987,726 (GRCm39) |
|
probably null |
Het |
Mphosph10 |
T |
C |
7: 64,038,607 (GRCm39) |
|
probably benign |
Het |
Or10a48 |
A |
G |
7: 108,424,385 (GRCm39) |
S274P |
probably damaging |
Het |
Or10ak7 |
A |
T |
4: 118,791,614 (GRCm39) |
C144S |
probably damaging |
Het |
Or4c52 |
T |
A |
2: 89,845,598 (GRCm39) |
I108N |
possibly damaging |
Het |
Or4k47 |
T |
C |
2: 111,452,086 (GRCm39) |
E111G |
probably damaging |
Het |
Or5p52 |
G |
A |
7: 107,502,130 (GRCm39) |
V69I |
possibly damaging |
Het |
Slc43a3 |
C |
A |
2: 84,768,140 (GRCm39) |
F37L |
probably benign |
Het |
Slf2 |
G |
T |
19: 44,919,855 (GRCm39) |
A36S |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,132,598 (GRCm39) |
|
probably benign |
Het |
Thsd7b |
A |
C |
1: 130,117,672 (GRCm39) |
|
probably null |
Het |
Tnfrsf18 |
A |
C |
4: 156,112,739 (GRCm39) |
I142L |
probably benign |
Het |
Ttn |
A |
G |
2: 76,632,855 (GRCm39) |
|
probably benign |
Het |
Tufm |
T |
A |
7: 126,088,614 (GRCm39) |
|
probably null |
Het |
Vmn2r69 |
A |
T |
7: 85,059,058 (GRCm39) |
|
probably benign |
Het |
Zfp385c |
T |
C |
11: 100,520,709 (GRCm39) |
|
probably benign |
Het |
Zfp964 |
T |
A |
8: 70,116,503 (GRCm39) |
C368S |
unknown |
Het |
Zswim8 |
G |
A |
14: 20,771,736 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Hlx |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00471:Hlx
|
APN |
1 |
184,463,792 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |