Incidental Mutation 'R2161:Hlx'
ID |
235137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hlx
|
Ensembl Gene |
ENSMUSG00000039377 |
Gene Name |
H2.0-like homeobox |
Synonyms |
Hlx1 |
MMRRC Submission |
040164-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2161 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
184459340-184464690 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 184459838 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 433
(S433R)
|
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: S433R
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000040505 Gene: ENSMUSG00000039377 AA Change: S433R
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: A73E
|
SMART Domains |
Protein: ENSMUSP00000134728 Gene: ENSMUSG00000039377 AA Change: A73E
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
A |
G |
15: 11,215,821 (GRCm39) |
M281V |
probably damaging |
Het |
Ap1g1 |
A |
T |
8: 110,570,986 (GRCm39) |
D423V |
probably damaging |
Het |
Arel1 |
A |
G |
12: 84,968,030 (GRCm39) |
|
probably null |
Het |
Arhgap33 |
T |
C |
7: 30,228,075 (GRCm39) |
|
probably null |
Het |
Arhgef18 |
T |
G |
8: 3,489,575 (GRCm39) |
Y302* |
probably null |
Het |
Blm |
T |
C |
7: 80,131,118 (GRCm39) |
|
probably null |
Het |
Cep295 |
T |
G |
9: 15,264,354 (GRCm39) |
E97D |
probably damaging |
Het |
Cep295nl |
T |
C |
11: 118,223,335 (GRCm39) |
D503G |
possibly damaging |
Het |
Chchd2 |
G |
T |
5: 129,912,989 (GRCm39) |
A29E |
probably damaging |
Het |
Cic |
A |
G |
7: 24,987,559 (GRCm39) |
|
probably null |
Het |
Cmtr1 |
C |
T |
17: 29,921,147 (GRCm39) |
L798F |
probably benign |
Het |
Col11a2 |
C |
A |
17: 34,283,771 (GRCm39) |
|
probably benign |
Het |
Crispld2 |
A |
G |
8: 120,742,078 (GRCm39) |
Y142C |
probably damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Dsp |
G |
A |
13: 38,380,427 (GRCm39) |
D1792N |
probably damaging |
Het |
Esp4 |
C |
A |
17: 40,913,284 (GRCm39) |
N50K |
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,133,451 (GRCm39) |
S404P |
probably damaging |
Het |
Ggnbp2 |
A |
G |
11: 84,725,259 (GRCm39) |
F639L |
probably benign |
Het |
Golph3l |
G |
A |
3: 95,524,436 (GRCm39) |
G229D |
probably damaging |
Het |
Kdm2b |
T |
A |
5: 123,018,762 (GRCm39) |
S233C |
probably damaging |
Het |
Krt14 |
C |
T |
11: 100,097,939 (GRCm39) |
G115R |
unknown |
Het |
Ldb3 |
A |
G |
14: 34,289,353 (GRCm39) |
|
probably null |
Het |
Lrp1 |
T |
A |
10: 127,391,607 (GRCm39) |
E2937D |
probably damaging |
Het |
Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
Naa20 |
T |
A |
2: 145,753,715 (GRCm39) |
|
probably null |
Het |
Ndufa8 |
A |
T |
2: 35,926,527 (GRCm39) |
W170R |
probably damaging |
Het |
Nlrp2 |
A |
T |
7: 5,328,041 (GRCm39) |
L671I |
probably damaging |
Het |
Or52e19b |
T |
A |
7: 103,032,407 (GRCm39) |
R267S |
probably benign |
Het |
Or5b108 |
T |
A |
19: 13,168,673 (GRCm39) |
I214K |
probably damaging |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptpro |
A |
G |
6: 137,426,885 (GRCm39) |
D280G |
probably benign |
Het |
Reps1 |
A |
G |
10: 17,972,031 (GRCm39) |
E361G |
probably damaging |
Het |
Rgs6 |
A |
G |
12: 83,138,578 (GRCm39) |
E304G |
probably damaging |
Het |
Siglece |
T |
C |
7: 43,308,793 (GRCm39) |
T187A |
probably benign |
Het |
Slc5a10 |
C |
T |
11: 61,610,760 (GRCm39) |
G5R |
probably null |
Het |
Sohlh1 |
A |
G |
2: 25,734,648 (GRCm39) |
I215T |
probably benign |
Het |
Stag1 |
T |
A |
9: 100,771,648 (GRCm39) |
V691D |
probably damaging |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Tmed8 |
A |
G |
12: 87,221,031 (GRCm39) |
V185A |
probably damaging |
Het |
Trim71 |
A |
G |
9: 114,341,840 (GRCm39) |
F814S |
probably damaging |
Het |
Trmt9b |
T |
C |
8: 36,972,804 (GRCm39) |
C85R |
probably damaging |
Het |
Tsnax |
A |
T |
8: 125,742,428 (GRCm39) |
K52N |
probably damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,682,292 (GRCm39) |
T676A |
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 |
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 |
PCR Primer
(F):5'- CAAAGTCCAGCCAGTGTAGAGG -3'
(R):5'- TGAAGTGGCGGCACTCTAAG -3'
Sequencing Primer
(F):5'- TGTAGAGGAAGCTGCACGC -3'
(R):5'- AGAGCAGTGACTCGGAGTCC -3'
|
Posted On |
2014-10-01 |