Incidental Mutation 'R2340:Hlx'
ID |
246694 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hlx
|
Ensembl Gene |
ENSMUSG00000039377 |
Gene Name |
H2.0-like homeobox |
Synonyms |
Hlx1 |
MMRRC Submission |
040326-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2340 (G1)
|
Quality Score |
225 |
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
97% (37/38) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Abca13 |
A |
T |
11: 9,349,165 (GRCm39) |
I3580F |
probably damaging |
Het |
B3glct |
A |
G |
5: 149,668,905 (GRCm39) |
K280E |
probably benign |
Het |
Chd6 |
TG |
T |
2: 160,807,679 (GRCm39) |
|
probably null |
Het |
Clu |
T |
C |
14: 66,218,358 (GRCm39) |
V406A |
probably damaging |
Het |
D930020B18Rik |
A |
G |
10: 121,490,741 (GRCm39) |
K114E |
probably damaging |
Het |
Dsg1c |
T |
A |
18: 20,400,945 (GRCm39) |
D149E |
probably damaging |
Het |
Entrep2 |
A |
G |
7: 64,425,565 (GRCm39) |
S176P |
probably benign |
Het |
Fat2 |
A |
T |
11: 55,160,922 (GRCm39) |
D3269E |
possibly damaging |
Het |
Frmd4a |
A |
G |
2: 4,591,187 (GRCm39) |
D69G |
probably damaging |
Het |
Hacd1 |
G |
T |
2: 14,040,698 (GRCm39) |
P186T |
probably damaging |
Het |
Kif2c |
A |
G |
4: 117,027,038 (GRCm39) |
V320A |
probably damaging |
Het |
Lypd2 |
T |
A |
15: 74,606,103 (GRCm39) |
I12L |
probably benign |
Het |
Midn |
G |
T |
10: 79,985,946 (GRCm39) |
R12L |
possibly damaging |
Het |
Or2b6 |
T |
C |
13: 21,822,757 (GRCm39) |
K312R |
probably benign |
Het |
Or8g34 |
A |
G |
9: 39,373,105 (GRCm39) |
Y126C |
probably damaging |
Het |
Or9q2 |
A |
G |
19: 13,772,135 (GRCm39) |
V280A |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,271,079 (GRCm39) |
V3158E |
probably damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Rad51d |
T |
C |
11: 82,772,647 (GRCm39) |
D206G |
probably damaging |
Het |
Rcan1 |
A |
G |
16: 92,194,240 (GRCm39) |
F58L |
probably damaging |
Het |
Rnf145 |
T |
C |
11: 44,422,205 (GRCm39) |
I96T |
probably benign |
Het |
Rnf216 |
A |
T |
5: 143,066,089 (GRCm39) |
F500I |
probably damaging |
Het |
Rph3al |
T |
C |
11: 75,724,258 (GRCm39) |
T282A |
probably benign |
Het |
Serpina11 |
T |
C |
12: 103,951,002 (GRCm39) |
R240G |
probably benign |
Het |
Slc12a2 |
T |
A |
18: 58,033,122 (GRCm39) |
I400N |
probably benign |
Het |
Slco1a4 |
C |
A |
6: 141,787,103 (GRCm39) |
C28F |
probably benign |
Het |
Sned1 |
T |
A |
1: 93,184,174 (GRCm39) |
I134N |
probably damaging |
Het |
Spock3 |
T |
A |
8: 63,798,747 (GRCm39) |
M253K |
probably damaging |
Het |
Tmem184b |
T |
A |
15: 79,262,732 (GRCm39) |
M42L |
probably benign |
Het |
Tnnt1 |
G |
A |
7: 4,516,615 (GRCm39) |
|
probably benign |
Het |
Ttll5 |
T |
A |
12: 85,938,922 (GRCm39) |
S407T |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Zfat |
T |
C |
15: 67,973,390 (GRCm39) |
E1117G |
probably damaging |
Het |
Zfp606 |
A |
G |
7: 12,227,016 (GRCm39) |
E321G |
possibly damaging |
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 |
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 |
|
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 |
PCR Primer
(F):5'- TCCGCAGACAAAATTCGATCG -3'
(R):5'- TTTCAAGCCAAGCCAGGGG -3'
Sequencing Primer
(F):5'- CGATCGATACCAAATTTGAGGTC -3'
(R):5'- CGAAGAACCGAAAGCAGCTCG -3'
|
Posted On |
2014-10-30 |