Incidental Mutation 'IGL01875:Afm'
| ID |
178887 |
| 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: 0.054)
|
| Stock # |
IGL01875
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
90666808-90701403 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
G to T
at 90696742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113179]
[ENSMUST00000128740]
|
| AlphaFold |
O89020 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113179
|
| SMART Domains |
Protein: ENSMUSP00000108804
Gene: ENSMUSG00000029369
| 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
|
| SMART Domains |
Protein: ENSMUSP00000117180
Gene: ENSMUSG00000029369
| Domain | Start | End | E-Value | Type |
|---|
|
ALBUMIN
|
20 |
205 |
3.69e-55 |
SMART |
|
ALBUMIN
|
212 |
397 |
6.42e-64 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200893
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
A |
G |
11: 102,663,682 (GRCm39) |
T287A |
probably damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,465,571 (GRCm39) |
|
probably benign |
Het |
| Ankrd53 |
G |
T |
6: 83,740,031 (GRCm39) |
E62* |
probably null |
Het |
| Atg4b |
A |
G |
1: 93,706,032 (GRCm39) |
S162G |
probably damaging |
Het |
| B530045E10Rik |
A |
T |
10: 99,258,177 (GRCm39) |
|
noncoding transcript |
Het |
| Ccng1 |
A |
G |
11: 40,643,183 (GRCm39) |
V88A |
probably benign |
Het |
| Ces1e |
T |
A |
8: 93,950,524 (GRCm39) |
M86L |
probably benign |
Het |
| Chrne |
A |
T |
11: 70,509,498 (GRCm39) |
|
probably null |
Het |
| Ctsh |
T |
C |
9: 89,946,260 (GRCm39) |
S109P |
probably damaging |
Het |
| Eif4g1 |
A |
C |
16: 20,499,790 (GRCm39) |
I420L |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,224 (GRCm39) |
S1351T |
unknown |
Het |
| Fgfr1 |
A |
G |
8: 26,063,569 (GRCm39) |
M732V |
possibly damaging |
Het |
| Gata5 |
T |
G |
2: 179,969,138 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm3633 |
A |
T |
14: 42,461,234 (GRCm39) |
M18K |
probably damaging |
Het |
| Gucy1b2 |
A |
G |
14: 62,657,595 (GRCm39) |
L211P |
probably damaging |
Het |
| Hemgn |
T |
C |
4: 46,396,994 (GRCm39) |
N81D |
possibly damaging |
Het |
| Irs2 |
A |
T |
8: 11,056,221 (GRCm39) |
M737K |
probably damaging |
Het |
| Itgb7 |
C |
A |
15: 102,126,430 (GRCm39) |
C502F |
probably damaging |
Het |
| Jakmip1 |
G |
T |
5: 37,278,324 (GRCm39) |
A534S |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,728 (GRCm39) |
H1636R |
probably benign |
Het |
| Kirrel1 |
T |
A |
3: 87,003,037 (GRCm39) |
I119F |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,217,354 (GRCm39) |
V527A |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,994,856 (GRCm39) |
E409G |
probably benign |
Het |
| Mtrr |
T |
G |
13: 68,720,728 (GRCm39) |
K289T |
probably damaging |
Het |
| Muc2 |
A |
T |
7: 141,306,477 (GRCm39) |
I739F |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,142,934 (GRCm39) |
T612A |
unknown |
Het |
| Or12e7 |
T |
A |
2: 87,287,654 (GRCm39) |
N48K |
probably damaging |
Het |
| Or1x2 |
A |
T |
11: 50,918,202 (GRCm39) |
R124S |
probably damaging |
Het |
| Or6c213 |
T |
A |
10: 129,574,791 (GRCm39) |
|
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,341,594 (GRCm39) |
N5K |
probably damaging |
Het |
| P4ha3 |
T |
A |
7: 99,949,859 (GRCm39) |
C109S |
probably damaging |
Het |
| Prkd3 |
T |
C |
17: 79,264,635 (GRCm39) |
E660G |
possibly damaging |
Het |
| Rbm4b |
G |
A |
19: 4,812,219 (GRCm39) |
M209I |
probably benign |
Het |
| Reln |
T |
A |
5: 22,109,715 (GRCm39) |
T3132S |
probably benign |
Het |
| Selenbp2 |
T |
A |
3: 94,605,451 (GRCm39) |
D92E |
possibly damaging |
Het |
| Slfn8 |
G |
T |
11: 82,894,905 (GRCm39) |
Q634K |
probably benign |
Het |
| Sumo3 |
A |
T |
10: 77,449,832 (GRCm39) |
I57F |
probably benign |
Het |
| Tacr1 |
A |
G |
6: 82,533,997 (GRCm39) |
Y341C |
probably benign |
Het |
| Tlr4 |
T |
A |
4: 66,757,726 (GRCm39) |
L173Q |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,469,385 (GRCm39) |
T458M |
probably damaging |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,859 (GRCm39) |
C259* |
probably null |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,277 (GRCm39) |
F11L |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,484,302 (GRCm39) |
M633L |
probably benign |
Het |
| Vmn2r35 |
T |
C |
7: 7,819,772 (GRCm39) |
|
probably benign |
Het |
| Vwc2l |
G |
T |
1: 70,768,172 (GRCm39) |
A79S |
probably benign |
Het |
| Zfhx2 |
G |
A |
14: 55,301,372 (GRCm39) |
S2204F |
unknown |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation