Incidental Mutation 'R5922:Hpx'
| ID |
461631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hpx
|
| Ensembl Gene |
ENSMUSG00000030895 |
| Gene Name |
hemopexin |
| Synonyms |
Hpxn, hx |
| MMRRC Submission |
043240-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5922 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
105240818-105249323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 105244831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 118
(R118H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033185]
[ENSMUST00000210531]
|
| AlphaFold |
Q91X72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033185
AA Change: R179H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033185
Gene: ENSMUSG00000030895
AA Change: R179H
| 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 damaging
Transcript: ENSMUST00000210531
AA Change: R118H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,785,735 (GRCm39) |
D1429G |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,076,925 (GRCm39) |
V390D |
possibly damaging |
Het |
| Cpn1 |
T |
C |
19: 43,974,532 (GRCm39) |
S66G |
probably damaging |
Het |
| Dnal1 |
C |
A |
12: 84,173,746 (GRCm39) |
L55M |
probably damaging |
Het |
| Dus2 |
G |
A |
8: 106,780,037 (GRCm39) |
R453Q |
possibly damaging |
Het |
| Efcab5 |
T |
C |
11: 77,079,570 (GRCm39) |
T59A |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,789,339 (GRCm39) |
D685G |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,312,556 (GRCm39) |
E275G |
probably damaging |
Het |
| Etnk2 |
A |
G |
1: 133,291,623 (GRCm39) |
|
probably null |
Het |
| Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
| Gjb2 |
A |
G |
14: 57,337,755 (GRCm39) |
M151T |
probably benign |
Het |
| Heatr9 |
C |
T |
11: 83,403,193 (GRCm39) |
|
probably null |
Het |
| Herpud2 |
G |
A |
9: 25,020,280 (GRCm39) |
L359F |
probably benign |
Het |
| Hyal2 |
A |
G |
9: 107,448,106 (GRCm39) |
Y253C |
probably damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,206 (GRCm39) |
C22R |
probably damaging |
Het |
| Ms4a6b |
T |
A |
19: 11,497,743 (GRCm39) |
I14N |
possibly damaging |
Het |
| Myb |
T |
A |
10: 21,028,826 (GRCm39) |
I91F |
probably damaging |
Het |
| Myh6 |
C |
T |
14: 55,183,931 (GRCm39) |
D1668N |
probably damaging |
Het |
| Noc2l |
C |
T |
4: 156,325,770 (GRCm39) |
Q182* |
probably null |
Het |
| Nsd1 |
A |
G |
13: 55,395,288 (GRCm39) |
N1066S |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,803,224 (GRCm39) |
Y659H |
probably damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,659 (GRCm39) |
E752G |
possibly damaging |
Het |
| Paqr6 |
G |
T |
3: 88,273,544 (GRCm39) |
A154S |
probably benign |
Het |
| Pdlim7 |
G |
T |
13: 55,656,768 (GRCm39) |
T62K |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,374,524 (GRCm39) |
D321G |
probably benign |
Het |
| Plrg1 |
T |
A |
3: 82,964,155 (GRCm39) |
N29K |
possibly damaging |
Het |
| Scimp |
A |
C |
11: 70,691,642 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,305,651 (GRCm39) |
N2251S |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,879,134 (GRCm39) |
D291E |
possibly damaging |
Het |
| Serpina3i |
A |
G |
12: 104,232,766 (GRCm39) |
K224E |
probably benign |
Het |
| Spz1 |
A |
T |
13: 92,712,106 (GRCm39) |
D123E |
possibly damaging |
Het |
| St14 |
A |
T |
9: 31,041,200 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
T |
7: 45,853,552 (GRCm39) |
|
probably null |
Het |
| Usp54 |
T |
C |
14: 20,602,139 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
C |
T |
8: 109,673,330 (GRCm39) |
T1460M |
probably damaging |
Het |
| Zfp712 |
G |
T |
13: 67,189,668 (GRCm39) |
N286K |
probably benign |
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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- TGGGGATTTCTTACCTCTGCCAG -3'
(R):5'- TCATGTGCACCTTGCTGCAG -3'
Sequencing Primer
(F):5'- GCCAGGGCAGGATACGAAGTAG -3'
(R):5'- ACCTTGCTGCAGGCTTTTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation