Incidental Mutation 'R6081:Hlx'
| ID |
482910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hlx
|
| Ensembl Gene |
ENSMUSG00000039377 |
| Gene Name |
H2.0-like homeobox |
| Synonyms |
Hlx1 |
| MMRRC Submission |
044240-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6081 (G1)
|
| Quality Score |
152.008 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
184459340-184464690 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 184459894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 415
(S415G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048572]
[ENSMUST00000174257]
|
| AlphaFold |
Q61670 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048572
AA Change: S415G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040505
Gene: ENSMUSG00000039377
AA Change: S415G
| 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 |
silent
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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,887,097 (GRCm39) |
M33K |
probably damaging |
Het |
| 4930556J24Rik |
T |
C |
11: 3,888,140 (GRCm39) |
Q82R |
unknown |
Het |
| Adcy9 |
T |
C |
16: 4,112,545 (GRCm39) |
D714G |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ahctf1 |
G |
T |
1: 179,609,237 (GRCm39) |
A639E |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Anxa5 |
C |
T |
3: 36,519,436 (GRCm39) |
D18N |
probably damaging |
Het |
| Apc |
C |
T |
18: 34,423,164 (GRCm39) |
P299L |
possibly damaging |
Het |
| Btnl4 |
C |
A |
17: 34,693,210 (GRCm39) |
W68C |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,281,021 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
G |
T |
19: 31,060,523 (GRCm39) |
V20L |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,119,633 (GRCm39) |
V1703E |
probably damaging |
Het |
| Dhx32 |
A |
G |
7: 133,323,941 (GRCm39) |
F535S |
probably damaging |
Het |
| Diras2 |
T |
C |
13: 52,662,181 (GRCm39) |
D42G |
probably damaging |
Het |
| Dppa3 |
T |
A |
6: 122,606,931 (GRCm39) |
D140E |
probably damaging |
Het |
| Gpr180 |
C |
T |
14: 118,391,086 (GRCm39) |
T205I |
probably benign |
Het |
| Gzme |
T |
G |
14: 56,355,764 (GRCm39) |
T183P |
possibly damaging |
Het |
| H2-T23 |
T |
A |
17: 36,342,707 (GRCm39) |
I144F |
possibly damaging |
Het |
| Krtap5-3 |
G |
A |
7: 141,755,223 (GRCm39) |
C20Y |
unknown |
Het |
| Mcm8 |
G |
T |
2: 132,670,003 (GRCm39) |
R359L |
probably benign |
Het |
| Mroh2b |
G |
C |
15: 4,973,859 (GRCm39) |
E1126Q |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,398,560 (GRCm39) |
R674H |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Rnaset2b |
T |
A |
17: 7,256,193 (GRCm39) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,583,074 (GRCm39) |
K87E |
probably benign |
Het |
| Sec16b |
T |
C |
1: 157,388,324 (GRCm39) |
S564P |
probably benign |
Het |
| Speer4a1 |
A |
T |
5: 26,239,960 (GRCm39) |
C263* |
probably null |
Het |
| Susd1 |
C |
A |
4: 59,411,359 (GRCm39) |
C158F |
possibly damaging |
Het |
| Vmn2r6 |
C |
T |
3: 64,463,953 (GRCm39) |
V294M |
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 |
|
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 |
|
|
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'- TATAAACCTGCAAGCGGGGC -3'
(R):5'- ATGAAGTGGCGGCACTCTAAG -3'
Sequencing Primer
(F):5'- CCTGGGCGATCTCCGGG -3'
(R):5'- CACTCTAAGGAGGCGCAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation