Incidental Mutation 'IGL01830:Ahsg'
| ID |
154762 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ahsg
|
| Ensembl Gene |
ENSMUSG00000022868 |
| Gene Name |
alpha-2-HS-glycoprotein |
| Synonyms |
fetuin-A |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01830
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
22710793-22718193 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 22717779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 252
(P252Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023583]
[ENSMUST00000231328]
[ENSMUST00000231848]
[ENSMUST00000231932]
[ENSMUST00000232098]
[ENSMUST00000232674]
|
| AlphaFold |
P29699 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023583
AA Change: P331Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023583
Gene: ENSMUSG00000022868
AA Change: P331Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
CY
|
22 |
133 |
8.6e-24 |
SMART |
|
CY
|
145 |
248 |
6.58e-20 |
SMART |
|
low complexity region
|
273 |
288 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231328
AA Change: P287Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231692
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231848
AA Change: P280Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231932
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232098
AA Change: P252Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232377
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232556
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that it participates in the development of the tissues. However, its exact significance is still obscure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice lacking this gene exhibit defective inhibition of serum apatite formation, sometimes causing muscle calcification. They are resistant to weight gain on a high-fat diet and have increased insulin sensitivity and glucose clearance and reduced fasting plasma free fatty acids and triglycerides. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks4b |
T |
A |
7: 119,773,219 (GRCm39) |
N26K |
probably damaging |
Het |
| Arrdc5 |
C |
T |
17: 56,601,652 (GRCm39) |
V158I |
probably damaging |
Het |
| Catsper2 |
T |
C |
2: 121,237,843 (GRCm39) |
D179G |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,672,603 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
T |
A |
7: 16,888,925 (GRCm39) |
D231E |
possibly damaging |
Het |
| Cep57l1 |
C |
T |
10: 41,604,649 (GRCm39) |
C160Y |
probably benign |
Het |
| Chek2 |
T |
A |
5: 111,021,374 (GRCm39) |
L528Q |
probably benign |
Het |
| Ciita |
T |
C |
16: 10,338,915 (GRCm39) |
L973P |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,582,744 (GRCm39) |
L637* |
probably null |
Het |
| Fsip2 |
A |
C |
2: 82,815,273 (GRCm39) |
I3669L |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,578,968 (GRCm39) |
V1218A |
probably benign |
Het |
| Gip |
T |
C |
11: 95,919,550 (GRCm39) |
L91S |
possibly damaging |
Het |
| Gp2 |
T |
C |
7: 119,050,765 (GRCm39) |
D322G |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,442,636 (GRCm39) |
V177A |
probably damaging |
Het |
| Kng2 |
T |
C |
16: 22,806,801 (GRCm39) |
D466G |
probably damaging |
Het |
| Lpar5 |
G |
A |
6: 125,058,785 (GRCm39) |
A169T |
probably benign |
Het |
| Med13 |
C |
T |
11: 86,179,754 (GRCm39) |
|
probably benign |
Het |
| Meiob |
T |
A |
17: 25,054,105 (GRCm39) |
C391S |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,339,869 (GRCm39) |
T417A |
probably damaging |
Het |
| Myo1b |
A |
T |
1: 51,836,624 (GRCm39) |
L279* |
probably null |
Het |
| Myo1g |
T |
A |
11: 6,464,522 (GRCm39) |
K513* |
probably null |
Het |
| Nxpe2 |
A |
T |
9: 48,237,794 (GRCm39) |
S154T |
probably damaging |
Het |
| Ogn |
C |
T |
13: 49,762,723 (GRCm39) |
Q22* |
probably null |
Het |
| Or4c12 |
A |
G |
2: 89,773,775 (GRCm39) |
L228S |
probably benign |
Het |
| Pacs2 |
A |
T |
12: 113,020,574 (GRCm39) |
K316* |
probably null |
Het |
| Pelo |
T |
A |
13: 115,225,131 (GRCm39) |
I365F |
probably damaging |
Het |
| Phf3 |
G |
A |
1: 30,853,148 (GRCm39) |
Q1021* |
probably null |
Het |
| Pik3r4 |
A |
G |
9: 105,522,154 (GRCm39) |
D240G |
probably damaging |
Het |
| Pknox1 |
T |
C |
17: 31,814,284 (GRCm39) |
M203T |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,102,153 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
G |
T |
5: 130,240,907 (GRCm39) |
C342F |
possibly damaging |
Het |
| Rbm19 |
A |
C |
5: 120,262,760 (GRCm39) |
K307T |
possibly damaging |
Het |
| Sdcbp2 |
T |
A |
2: 151,431,494 (GRCm39) |
I289N |
probably damaging |
Het |
| Slc5a12 |
G |
A |
2: 110,428,151 (GRCm39) |
G69R |
probably damaging |
Het |
| Spag1 |
C |
A |
15: 36,221,705 (GRCm39) |
S599R |
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,199,811 (GRCm39) |
D4565V |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
| Vmn1r225 |
T |
C |
17: 20,722,717 (GRCm39) |
S53P |
probably damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,272,767 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ahsg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01885:Ahsg
|
APN |
16 |
22,717,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02208:Ahsg
|
APN |
16 |
22,711,060 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02593:Ahsg
|
APN |
16 |
22,711,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03059:Ahsg
|
APN |
16 |
22,717,755 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0257:Ahsg
|
UTSW |
16 |
22,717,790 (GRCm39) |
missense |
probably benign |
|
|
R0615:Ahsg
|
UTSW |
16 |
22,717,805 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1829:Ahsg
|
UTSW |
16 |
22,711,078 (GRCm39) |
unclassified |
probably benign |
|
|
R5034:Ahsg
|
UTSW |
16 |
22,717,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5149:Ahsg
|
UTSW |
16 |
22,717,673 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5670:Ahsg
|
UTSW |
16 |
22,716,913 (GRCm39) |
missense |
probably benign |
|
|
R6264:Ahsg
|
UTSW |
16 |
22,717,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6788:Ahsg
|
UTSW |
16 |
22,713,585 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7026:Ahsg
|
UTSW |
16 |
22,710,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Ahsg
|
UTSW |
16 |
22,711,007 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9055:Ahsg
|
UTSW |
16 |
22,711,069 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
X0060:Ahsg
|
UTSW |
16 |
22,714,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ahsg
|
UTSW |
16 |
22,717,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation