Incidental Mutation 'IGL02950:Afm'
ID |
364916 |
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 # |
IGL02950
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
90666808-90701403 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 90679466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 320
(D320V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108804
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113179]
[ENSMUST00000128740]
|
AlphaFold |
O89020 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113179
AA Change: D320V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000108804 Gene: ENSMUSG00000029369 AA Change: D320V
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 damaging
Transcript: ENSMUST00000128740
AA Change: D320V
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117180 Gene: ENSMUSG00000029369 AA Change: D320V
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
T |
19: 43,814,406 (GRCm39) |
S1129C |
possibly damaging |
Het |
Ap5m1 |
C |
T |
14: 49,311,392 (GRCm39) |
T154I |
probably benign |
Het |
Bcl11b |
G |
A |
12: 107,956,065 (GRCm39) |
T28I |
probably benign |
Het |
Bhlhe40 |
G |
T |
6: 108,641,503 (GRCm39) |
C149F |
probably damaging |
Het |
Bmper |
A |
T |
9: 23,310,790 (GRCm39) |
D408V |
probably damaging |
Het |
C1rl |
G |
A |
6: 124,485,820 (GRCm39) |
C397Y |
probably damaging |
Het |
C2cd4c |
A |
G |
10: 79,448,665 (GRCm39) |
S161P |
probably damaging |
Het |
Cemip2 |
A |
T |
19: 21,819,564 (GRCm39) |
K1118N |
probably benign |
Het |
Cep290 |
T |
C |
10: 100,376,191 (GRCm39) |
|
probably benign |
Het |
Cp |
T |
C |
3: 20,042,165 (GRCm39) |
Y978H |
probably damaging |
Het |
Csf2ra |
T |
C |
19: 61,215,607 (GRCm39) |
D37G |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,383,801 (GRCm39) |
V596A |
probably damaging |
Het |
Dnmt3l |
A |
G |
10: 77,886,785 (GRCm39) |
S82G |
probably benign |
Het |
Dock1 |
A |
G |
7: 134,331,753 (GRCm39) |
Y46C |
probably damaging |
Het |
Eno2 |
A |
T |
6: 124,740,081 (GRCm39) |
D318E |
probably damaging |
Het |
Gm43738 |
A |
C |
3: 88,996,355 (GRCm39) |
L120R |
probably damaging |
Het |
Hgsnat |
C |
A |
8: 26,461,729 (GRCm39) |
C29F |
probably damaging |
Het |
Hltf |
T |
A |
3: 20,130,736 (GRCm39) |
V318D |
probably benign |
Het |
Kcnh8 |
A |
G |
17: 53,263,795 (GRCm39) |
H764R |
probably benign |
Het |
Kcnq3 |
A |
G |
15: 65,892,142 (GRCm39) |
F411S |
probably benign |
Het |
Lpcat4 |
C |
A |
2: 112,074,387 (GRCm39) |
N287K |
possibly damaging |
Het |
Ltbp4 |
A |
C |
7: 27,006,143 (GRCm39) |
F1512V |
probably damaging |
Het |
Mctp1 |
A |
T |
13: 77,172,929 (GRCm39) |
L868F |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,713,360 (GRCm39) |
|
probably benign |
Het |
Or5g23 |
A |
T |
2: 85,438,501 (GRCm39) |
L251Q |
possibly damaging |
Het |
Otub2 |
A |
G |
12: 103,369,632 (GRCm39) |
D237G |
probably damaging |
Het |
Pax3 |
A |
G |
1: 78,079,997 (GRCm39) |
V463A |
probably benign |
Het |
Podn |
T |
C |
4: 107,875,048 (GRCm39) |
K573R |
possibly damaging |
Het |
Ppp5c |
A |
C |
7: 16,740,835 (GRCm39) |
S378A |
probably benign |
Het |
Pramel29 |
A |
G |
4: 143,939,531 (GRCm39) |
V2A |
probably benign |
Het |
Prl2a1 |
T |
A |
13: 27,988,914 (GRCm39) |
L13Q |
probably damaging |
Het |
Ptgir |
A |
G |
7: 16,641,526 (GRCm39) |
T70A |
probably damaging |
Het |
Ralyl |
C |
A |
3: 14,104,781 (GRCm39) |
N15K |
probably damaging |
Het |
Rbck1 |
C |
T |
2: 152,172,997 (GRCm39) |
R17Q |
possibly damaging |
Het |
Ryr1 |
A |
G |
7: 28,796,884 (GRCm39) |
Y973H |
probably damaging |
Het |
Sh2d6 |
A |
G |
6: 72,492,285 (GRCm39) |
V260A |
probably damaging |
Het |
Spen |
G |
A |
4: 141,196,819 (GRCm39) |
P3559S |
probably damaging |
Het |
Tbcd |
T |
A |
11: 121,494,535 (GRCm39) |
V1032D |
probably damaging |
Het |
Trav12-1 |
T |
A |
14: 53,776,024 (GRCm39) |
V59E |
probably damaging |
Het |
Unc93a |
T |
A |
17: 13,344,455 (GRCm39) |
Q29L |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,808,525 (GRCm39) |
|
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 |
IGL01819:Afm
|
APN |
5 |
90,672,765 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
2015-12-18 |