Incidental Mutation 'IGL00951:Hp'
| ID |
28043 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hp
|
| Ensembl Gene |
ENSMUSG00000031722 |
| Gene Name |
haptoglobin |
| Synonyms |
preHP2, HP-1, zonulin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
IGL00951
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
110301760-110305804 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110304129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 24
(D24G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034159]
[ENSMUST00000074898]
[ENSMUST00000178445]
|
| AlphaFold |
Q61646 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034159
|
| SMART Domains |
Protein: ENSMUSP00000034159
Gene: ENSMUSG00000031723
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DIM1
|
4 |
136 |
1.6e-58 |
PFAM |
|
Pfam:Thioredoxin
|
6 |
109 |
3.4e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074898
AA Change: D24G
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000074436
Gene: ENSMUSG00000031722
AA Change: D24G
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
33 |
86 |
2.9e0 |
SMART |
|
Tryp_SPc
|
102 |
340 |
4.38e-48 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178445
|
| SMART Domains |
Protein: ENSMUSP00000137524
Gene: ENSMUSG00000031723
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DIM1
|
4 |
136 |
1.2e-58 |
PFAM |
|
Pfam:Thioredoxin
|
6 |
110 |
2.2e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212918
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a plasma glycoprotein called haptoglobin that binds free hemoglobin. The encoded preproprotein undergoes proteolytic processing to generate alpha and beta subunits that form a disulfide-linked tetrameric protein that plays an important role in the sequestration and clearance of extracorpuscular hemoglobin. Mice lacking the encoded protein exhibit stunted development of lymphoid organs associated with lower counts of mature T and B cells in the blood and secondary lymphoid compartments. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for a null allele exhibit partial postnatal lethality, susceptibility to induced acute hemolysis, and altered renal iron loading during aging and after ischemic injury. Homozygotes for a knock-in allele show reduced cholesterol efflux and enhanced nephropathy in STZ-induced diabetes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
C |
A |
9: 99,387,757 (GRCm39) |
R388L |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,901,481 (GRCm39) |
E407G |
probably damaging |
Het |
| Brms1l |
A |
G |
12: 55,912,834 (GRCm39) |
I276V |
possibly damaging |
Het |
| Brpf1 |
C |
A |
6: 113,299,514 (GRCm39) |
D1182E |
probably damaging |
Het |
| Clpb |
A |
G |
7: 101,400,467 (GRCm39) |
M268V |
probably benign |
Het |
| Cpne8 |
A |
T |
15: 90,486,096 (GRCm39) |
|
probably benign |
Het |
| Ddx25 |
A |
T |
9: 35,464,131 (GRCm39) |
|
probably null |
Het |
| Dgki |
A |
G |
6: 36,977,094 (GRCm39) |
M672T |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,371,620 (GRCm39) |
T112A |
possibly damaging |
Het |
| Galnt7 |
A |
T |
8: 58,036,858 (GRCm39) |
M177K |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,018,498 (GRCm39) |
D113G |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,276,983 (GRCm39) |
R847G |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,906,281 (GRCm39) |
D2391E |
probably benign |
Het |
| Mpzl1 |
A |
G |
1: 165,433,391 (GRCm39) |
F87L |
probably damaging |
Het |
| Ms4a4d |
A |
T |
19: 11,532,285 (GRCm39) |
I144F |
probably benign |
Het |
| Or5h18 |
G |
A |
16: 58,848,216 (GRCm39) |
T18I |
probably benign |
Het |
| Or5h23 |
A |
C |
16: 58,906,756 (GRCm39) |
L30R |
possibly damaging |
Het |
| Or5i1 |
A |
T |
2: 87,612,883 (GRCm39) |
I2F |
probably benign |
Het |
| Or6c219 |
A |
G |
10: 129,781,581 (GRCm39) |
S2P |
probably damaging |
Het |
| Or6d14 |
G |
A |
6: 116,534,027 (GRCm39) |
V214I |
probably benign |
Het |
| Prr16 |
A |
G |
18: 51,436,411 (GRCm39) |
R297G |
probably damaging |
Het |
| Ralgps1 |
A |
C |
2: 33,163,614 (GRCm39) |
L148V |
probably damaging |
Het |
| Rara |
A |
G |
11: 98,858,992 (GRCm39) |
D150G |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,559,512 (GRCm39) |
V64D |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,019,348 (GRCm39) |
Y742H |
probably damaging |
Het |
| Rpl7a |
A |
G |
2: 26,802,441 (GRCm39) |
D160G |
possibly damaging |
Het |
| Sdccag8 |
A |
G |
1: 176,705,568 (GRCm39) |
M461V |
possibly damaging |
Het |
| Tagln |
T |
A |
9: 45,842,170 (GRCm39) |
N141I |
probably benign |
Het |
| Tas2r140 |
A |
T |
6: 40,468,913 (GRCm39) |
R248* |
probably null |
Het |
| Ube2j2 |
C |
T |
4: 156,030,834 (GRCm39) |
|
probably benign |
Het |
| Ulk1 |
A |
G |
5: 110,940,270 (GRCm39) |
C384R |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 187,995,662 (GRCm39) |
E144D |
probably benign |
Het |
| Vkorc1l1 |
C |
T |
5: 130,011,108 (GRCm39) |
T144I |
probably benign |
Het |
| Zfp235 |
T |
C |
7: 23,836,505 (GRCm39) |
F17S |
probably damaging |
Het |
|
| Other mutations in Hp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00799:Hp
|
APN |
8 |
110,302,250 (GRCm39) |
splice site |
probably null |
|
|
IGL01013:Hp
|
APN |
8 |
110,305,653 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01096:Hp
|
APN |
8 |
110,302,033 (GRCm39) |
missense |
probably benign |
|
|
IGL01307:Hp
|
APN |
8 |
110,302,415 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02997:Hp
|
APN |
8 |
110,302,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03378:Hp
|
APN |
8 |
110,302,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1349:Hp
|
UTSW |
8 |
110,301,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1691:Hp
|
UTSW |
8 |
110,302,204 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4741:Hp
|
UTSW |
8 |
110,302,104 (GRCm39) |
nonsense |
probably null |
|
|
R6036:Hp
|
UTSW |
8 |
110,303,406 (GRCm39) |
splice site |
probably null |
|
|
R6036:Hp
|
UTSW |
8 |
110,303,406 (GRCm39) |
splice site |
probably null |
|
|
R6689:Hp
|
UTSW |
8 |
110,302,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7426:Hp
|
UTSW |
8 |
110,301,832 (GRCm39) |
splice site |
probably null |
|
|
R7683:Hp
|
UTSW |
8 |
110,305,731 (GRCm39) |
start gained |
probably benign |
|
|
R7943:Hp
|
UTSW |
8 |
110,302,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation