Incidental Mutation 'R0009:Afm'
| ID |
8140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afm
|
| Ensembl Gene |
ENSMUSG00000029369 |
| Gene Name |
afamin |
| Synonyms |
alpha albumin, Alf |
| MMRRC Submission |
038304-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R0009 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
90666808-90701403 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 90693243 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 |
|
| Coding Region Coverage |
- 1x: 79.7%
- 3x: 70.1%
- 10x: 44.5%
- 20x: 24.1%
|
| Validation Efficiency |
93% (78/84) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
G |
15: 60,791,482 (GRCm39) |
|
probably benign |
Het |
| Aplnr |
T |
A |
2: 84,967,620 (GRCm39) |
|
probably null |
Het |
| Arih2 |
T |
A |
9: 108,488,926 (GRCm39) |
H264L |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,961,903 (GRCm39) |
E15G |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,432,247 (GRCm39) |
H45R |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,240,732 (GRCm39) |
L1569P |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,443,918 (GRCm39) |
Q457* |
probably null |
Het |
| Coro1a |
A |
T |
7: 126,300,585 (GRCm39) |
|
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,043,672 (GRCm39) |
L91Q |
probably damaging |
Het |
| Ctdspl |
T |
C |
9: 118,849,114 (GRCm39) |
|
probably null |
Het |
| Dnase1 |
T |
C |
16: 3,856,810 (GRCm39) |
V147A |
probably damaging |
Het |
| Glud1 |
G |
A |
14: 34,056,225 (GRCm39) |
G300S |
probably benign |
Het |
| Gm4847 |
C |
T |
1: 166,458,055 (GRCm39) |
V433I |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,857,560 (GRCm39) |
S4048P |
probably benign |
Het |
| Hp1bp3 |
T |
A |
4: 137,948,994 (GRCm39) |
I19K |
probably benign |
Het |
| Il1a |
C |
T |
2: 129,150,994 (GRCm39) |
D10N |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,500,206 (GRCm39) |
N39I |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,816,053 (GRCm39) |
Y747F |
probably benign |
Het |
| Mcc |
C |
T |
18: 44,579,000 (GRCm39) |
E803K |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,398,362 (GRCm39) |
M1087K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,309,730 (GRCm39) |
D361E |
probably benign |
Het |
| Slc35e1 |
A |
T |
8: 73,238,553 (GRCm39) |
N318K |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,802,762 (GRCm39) |
E604V |
probably benign |
Het |
| Tbx19 |
A |
T |
1: 164,988,089 (GRCm39) |
S15T |
possibly damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,401,538 (GRCm39) |
A179V |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,956,355 (GRCm39) |
C874S |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,891,810 (GRCm39) |
Y885N |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,150,692 (GRCm39) |
C505S |
probably damaging |
Het |
| Xpo5 |
T |
C |
17: 46,515,712 (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 |
|
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 |
|
|
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 |
2012-11-20 |
Incidental Mutation