Incidental Mutation 'R1195:Hpx'
| ID |
197533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hpx
|
| Ensembl Gene |
ENSMUSG00000030895 |
| Gene Name |
hemopexin |
| Synonyms |
Hpxn, hx |
| MMRRC Submission |
039267-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1195 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
105240818-105249323 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 105248856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033185]
[ENSMUST00000106791]
[ENSMUST00000210531]
|
| AlphaFold |
Q91X72 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033185
|
| SMART Domains |
Protein: ENSMUSP00000033185
Gene: ENSMUSG00000030895
| Domain | Start | End | E-Value | Type |
|---|
|
HX
|
56 |
93 |
1.29e0 |
SMART |
|
HX
|
97 |
140 |
5.52e-8 |
SMART |
|
Blast:HX
|
143 |
186 |
3e-7 |
BLAST |
|
HX
|
187 |
230 |
3.48e-5 |
SMART |
|
HX
|
261 |
304 |
1.07e-5 |
SMART |
|
HX
|
306 |
351 |
5.49e-3 |
SMART |
|
Blast:HX
|
358 |
403 |
2e-17 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106791
|
| SMART Domains |
Protein: ENSMUSP00000102403
Gene: ENSMUSG00000036989
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
22 |
62 |
6.43e-8 |
SMART |
|
BBOX
|
110 |
151 |
7.54e-14 |
SMART |
|
BBC
|
158 |
284 |
2.55e-42 |
SMART |
|
IG_FLMN
|
321 |
421 |
1.06e-31 |
SMART |
|
Pfam:NHL
|
486 |
513 |
3.4e-8 |
PFAM |
|
Pfam:NHL
|
533 |
560 |
7.6e-10 |
PFAM |
|
Pfam:NHL
|
575 |
602 |
4.4e-7 |
PFAM |
|
Pfam:NHL
|
622 |
649 |
7.6e-10 |
PFAM |
|
Pfam:NHL
|
669 |
696 |
2.7e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210531
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.8%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a plasma glycoprotein that binds heme with high affinity. The encoded protein is an acute phase protein that transports heme from the plasma to the liver and may be involved in protecting cells from oxidative stress. [provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. However, they have increased susceptiblity to induced hemolytic stress. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
C |
A |
13: 30,565,901 (GRCm39) |
P322Q |
probably damaging |
Het |
| Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
| Brd1 |
T |
C |
15: 88,585,014 (GRCm39) |
E940G |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,302,209 (GRCm39) |
|
probably benign |
Het |
| Cd28 |
C |
T |
1: 60,802,303 (GRCm39) |
T74I |
possibly damaging |
Het |
| Cntnap2 |
T |
A |
6: 46,460,902 (GRCm39) |
M646K |
probably benign |
Het |
| Cyb5d1 |
C |
T |
11: 69,285,797 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dab2ip |
T |
C |
2: 35,608,757 (GRCm39) |
|
probably benign |
Het |
| Dnajc25 |
C |
T |
4: 59,003,415 (GRCm39) |
A62V |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,250,235 (GRCm39) |
D4063G |
probably damaging |
Het |
| Elmod1 |
T |
C |
9: 53,843,052 (GRCm39) |
Y42C |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,096,332 (GRCm39) |
I310V |
probably damaging |
Het |
| Ighv10-1 |
A |
T |
12: 114,443,015 (GRCm39) |
|
probably benign |
Het |
| Igsf3 |
A |
G |
3: 101,365,419 (GRCm39) |
D1130G |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,465,654 (GRCm39) |
R1343G |
probably damaging |
Het |
| Kdm4d |
A |
G |
9: 14,374,395 (GRCm39) |
S488P |
probably benign |
Het |
| Lingo2 |
A |
G |
4: 35,708,538 (GRCm39) |
Y481H |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,268,562 (GRCm39) |
P523L |
probably damaging |
Het |
| Msx1 |
A |
G |
5: 37,978,625 (GRCm39) |
Y297H |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,802,483 (GRCm39) |
D1990G |
probably damaging |
Het |
| Niban2 |
T |
C |
2: 32,809,815 (GRCm39) |
V304A |
probably benign |
Het |
| Perp |
C |
A |
10: 18,731,483 (GRCm39) |
Y147* |
probably null |
Het |
| Prr16 |
A |
T |
18: 51,435,755 (GRCm39) |
D78V |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,525,228 (GRCm39) |
T806M |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,713,016 (GRCm39) |
|
probably null |
Het |
| Sema5b |
A |
T |
16: 35,472,030 (GRCm39) |
E496V |
probably null |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Spdl1 |
T |
C |
11: 34,710,644 (GRCm39) |
Y368C |
probably damaging |
Het |
| Sptbn2 |
G |
C |
19: 4,795,921 (GRCm39) |
R1700P |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tln2 |
T |
G |
9: 67,165,848 (GRCm39) |
K1000Q |
probably damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,711,943 (GRCm39) |
T63A |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,926,885 (GRCm39) |
D129G |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Ttll6 |
T |
C |
11: 96,026,555 (GRCm39) |
I113T |
probably damaging |
Het |
| Uso1 |
T |
A |
5: 92,318,606 (GRCm39) |
F210L |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,131,131 (GRCm39) |
V224E |
probably benign |
Het |
| Zfp639 |
G |
A |
3: 32,573,345 (GRCm39) |
V86I |
possibly damaging |
Het |
|
| Other mutations in Hpx |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Hpx
|
APN |
7 |
105,240,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01861:Hpx
|
APN |
7 |
105,241,393 (GRCm39) |
nonsense |
probably null |
|
|
IGL02441:Hpx
|
APN |
7 |
105,241,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03117:Hpx
|
APN |
7 |
105,249,278 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03230:Hpx
|
APN |
7 |
105,248,519 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03376:Hpx
|
APN |
7 |
105,241,458 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03392:Hpx
|
APN |
7 |
105,241,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4520001:Hpx
|
UTSW |
7 |
105,241,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0138:Hpx
|
UTSW |
7 |
105,241,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0364:Hpx
|
UTSW |
7 |
105,245,471 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1195:Hpx
|
UTSW |
7 |
105,248,856 (GRCm39) |
splice site |
probably benign |
|
|
R1958:Hpx
|
UTSW |
7 |
105,245,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2007:Hpx
|
UTSW |
7 |
105,244,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Hpx
|
UTSW |
7 |
105,244,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Hpx
|
UTSW |
7 |
105,241,290 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2207:Hpx
|
UTSW |
7 |
105,241,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Hpx
|
UTSW |
7 |
105,248,847 (GRCm39) |
intron |
probably benign |
|
|
R3849:Hpx
|
UTSW |
7 |
105,245,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4206:Hpx
|
UTSW |
7 |
105,244,354 (GRCm39) |
missense |
probably null |
0.01 |
|
R4510:Hpx
|
UTSW |
7 |
105,241,295 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4511:Hpx
|
UTSW |
7 |
105,241,295 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4709:Hpx
|
UTSW |
7 |
105,249,243 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5029:Hpx
|
UTSW |
7 |
105,240,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5540:Hpx
|
UTSW |
7 |
105,241,119 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5631:Hpx
|
UTSW |
7 |
105,244,808 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5664:Hpx
|
UTSW |
7 |
105,244,355 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5820:Hpx
|
UTSW |
7 |
105,240,995 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5922:Hpx
|
UTSW |
7 |
105,244,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6707:Hpx
|
UTSW |
7 |
105,244,682 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6714:Hpx
|
UTSW |
7 |
105,244,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7356:Hpx
|
UTSW |
7 |
105,240,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7425:Hpx
|
UTSW |
7 |
105,241,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8048:Hpx
|
UTSW |
7 |
105,244,685 (GRCm39) |
missense |
probably benign |
|
|
R8184:Hpx
|
UTSW |
7 |
105,241,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0066:Hpx
|
UTSW |
7 |
105,245,594 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
|
| Posted On |
2014-05-23 |
Incidental Mutation