Incidental Mutation 'IGL01819:Afm'
| ID |
154476 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Afm
|
| Ensembl Gene |
ENSMUSG00000029369 |
| Gene Name |
afamin |
| Synonyms |
alpha albumin, Alf |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL01819
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
90666808-90701403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 90672765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 200
(T200I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113179]
[ENSMUST00000128740]
|
| AlphaFold |
O89020 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113179
AA Change: T200I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000108804
Gene: ENSMUSG00000029369
AA Change: T200I
| Domain | Start | End | E-Value | Type |
|---|
|
ALBUMIN
|
20 |
205 |
3.69e-55 |
SMART |
|
ALBUMIN
|
212 |
397 |
6.42e-64 |
SMART |
|
ALBUMIN
|
404 |
593 |
3.07e-61 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128740
AA Change: T200I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000117180
Gene: ENSMUSG00000029369
AA Change: T200I
| Domain | Start | End | E-Value | Type |
|---|
|
ALBUMIN
|
20 |
205 |
3.69e-55 |
SMART |
|
ALBUMIN
|
212 |
397 |
6.42e-64 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2b |
A |
G |
11: 62,156,010 (GRCm39) |
N153S |
possibly damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,604,165 (GRCm39) |
D397G |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,998,952 (GRCm39) |
V1032A |
probably benign |
Het |
| Elovl7 |
T |
G |
13: 108,410,854 (GRCm39) |
V143G |
probably damaging |
Het |
| Fhl4 |
T |
C |
10: 84,934,734 (GRCm39) |
K16E |
probably damaging |
Het |
| Golga1 |
C |
T |
2: 38,924,161 (GRCm39) |
C383Y |
probably benign |
Het |
| Gucy1a2 |
C |
T |
9: 3,865,409 (GRCm39) |
R628* |
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,466,481 (GRCm39) |
D2432G |
possibly damaging |
Het |
| Iqcf5 |
T |
A |
9: 106,393,189 (GRCm39) |
*149R |
probably null |
Het |
| Kcnab1 |
T |
A |
3: 65,226,875 (GRCm39) |
Y185N |
probably damaging |
Het |
| Lars1 |
G |
T |
18: 42,335,615 (GRCm39) |
T1167K |
probably benign |
Het |
| Mib2 |
A |
T |
4: 155,739,715 (GRCm39) |
|
probably null |
Het |
| Mrps2 |
T |
C |
2: 28,358,348 (GRCm39) |
V46A |
probably benign |
Het |
| Myo18b |
T |
C |
5: 113,025,916 (GRCm39) |
T45A |
unknown |
Het |
| Myo1e |
C |
T |
9: 70,250,322 (GRCm39) |
|
probably benign |
Het |
| Or10ag59 |
A |
G |
2: 87,405,823 (GRCm39) |
I132V |
probably damaging |
Het |
| Or4k39 |
T |
A |
2: 111,239,078 (GRCm39) |
V106E |
probably damaging |
Het |
| Osbp2 |
A |
T |
11: 3,667,127 (GRCm39) |
I8N |
probably damaging |
Het |
| Pcdhb22 |
A |
T |
18: 37,652,974 (GRCm39) |
N481Y |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,433,263 (GRCm39) |
W765R |
probably damaging |
Het |
| Phf11c |
T |
C |
14: 59,630,586 (GRCm39) |
T40A |
probably benign |
Het |
| Pih1d2 |
T |
A |
9: 50,533,177 (GRCm39) |
S268R |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,724,913 (GRCm39) |
N2333D |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,463,165 (GRCm39) |
I62T |
probably damaging |
Het |
| Ptcd2 |
T |
C |
13: 99,463,219 (GRCm39) |
N245S |
possibly damaging |
Het |
| Ripor3 |
C |
A |
2: 167,822,763 (GRCm39) |
V933F |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,534,561 (GRCm39) |
S105P |
probably benign |
Het |
| Sphk2 |
A |
G |
7: 45,360,480 (GRCm39) |
|
probably null |
Het |
| Tfcp2 |
T |
G |
15: 100,402,320 (GRCm39) |
E492D |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,629,106 (GRCm39) |
V14411I |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,628,549 (GRCm39) |
Q915R |
probably damaging |
Het |
| Vmn2r45 |
C |
A |
7: 8,488,556 (GRCm39) |
S158I |
probably benign |
Het |
|
| Other mutations in Afm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00911:Afm
|
APN |
5 |
90,673,450 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01140:Afm
|
APN |
5 |
90,672,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01789:Afm
|
APN |
5 |
90,673,443 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01826:Afm
|
APN |
5 |
90,672,787 (GRCm39) |
splice site |
probably benign |
|
|
IGL01875:Afm
|
APN |
5 |
90,696,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02337:Afm
|
APN |
5 |
90,695,770 (GRCm39) |
missense |
probably benign |
|
|
IGL02902:Afm
|
APN |
5 |
90,674,222 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02950:Afm
|
APN |
5 |
90,679,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Afm
|
UTSW |
5 |
90,693,243 (GRCm39) |
splice site |
probably benign |
|
|
R0009:Afm
|
UTSW |
5 |
90,693,243 (GRCm39) |
splice site |
probably benign |
|
|
R0135:Afm
|
UTSW |
5 |
90,698,181 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0582:Afm
|
UTSW |
5 |
90,672,639 (GRCm39) |
splice site |
probably benign |
|
|
R1416:Afm
|
UTSW |
5 |
90,674,238 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1465:Afm
|
UTSW |
5 |
90,698,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Afm
|
UTSW |
5 |
90,698,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Afm
|
UTSW |
5 |
90,674,283 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1919:Afm
|
UTSW |
5 |
90,672,779 (GRCm39) |
nonsense |
probably null |
|
|
R2071:Afm
|
UTSW |
5 |
90,671,594 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2843:Afm
|
UTSW |
5 |
90,674,324 (GRCm39) |
nonsense |
probably null |
|
|
R2979:Afm
|
UTSW |
5 |
90,670,022 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4853:Afm
|
UTSW |
5 |
90,699,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5400:Afm
|
UTSW |
5 |
90,699,257 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5551:Afm
|
UTSW |
5 |
90,679,511 (GRCm39) |
missense |
probably null |
0.97 |
|
R5583:Afm
|
UTSW |
5 |
90,695,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5780:Afm
|
UTSW |
5 |
90,699,290 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7378:Afm
|
UTSW |
5 |
90,699,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7470:Afm
|
UTSW |
5 |
90,679,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7785:Afm
|
UTSW |
5 |
90,698,032 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7799:Afm
|
UTSW |
5 |
90,671,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7809:Afm
|
UTSW |
5 |
90,672,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7897:Afm
|
UTSW |
5 |
90,695,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8236:Afm
|
UTSW |
5 |
90,671,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8497:Afm
|
UTSW |
5 |
90,699,202 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8752:Afm
|
UTSW |
5 |
90,700,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8949:Afm
|
UTSW |
5 |
90,679,374 (GRCm39) |
nonsense |
probably null |
|
|
R8971:Afm
|
UTSW |
5 |
90,696,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9013:Afm
|
UTSW |
5 |
90,671,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9067:Afm
|
UTSW |
5 |
90,671,674 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9082:Afm
|
UTSW |
5 |
90,698,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9335:Afm
|
UTSW |
5 |
90,698,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Afm
|
UTSW |
5 |
90,693,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Afm
|
UTSW |
5 |
90,679,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Afm
|
UTSW |
5 |
90,679,365 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1177:Afm
|
UTSW |
5 |
90,669,805 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Afm
|
UTSW |
5 |
90,699,242 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2014-02-04 |
Incidental Mutation