Incidental Mutation 'R8497:Afm'
ID |
658313 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afm
|
Ensembl Gene |
ENSMUSG00000029369 |
Gene Name |
afamin |
Synonyms |
alpha albumin, Alf |
MMRRC Submission |
067939-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R8497 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
90666808-90701403 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 90699202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108804
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113179]
[ENSMUST00000128740]
|
AlphaFold |
O89020 |
Predicted Effect |
probably null
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (51/51) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
C |
T |
19: 31,923,250 (GRCm39) |
H509Y |
probably benign |
Het |
Apc |
G |
A |
18: 34,446,083 (GRCm39) |
C975Y |
possibly damaging |
Het |
Ash1l |
G |
T |
3: 88,914,951 (GRCm39) |
M1860I |
probably benign |
Het |
Bdkrb1 |
C |
T |
12: 105,570,463 (GRCm39) |
Q10* |
probably null |
Het |
Bphl |
A |
G |
13: 34,221,706 (GRCm39) |
K21E |
possibly damaging |
Het |
Cadps2 |
T |
C |
6: 23,355,918 (GRCm39) |
N837D |
probably benign |
Het |
Cat |
C |
G |
2: 103,287,221 (GRCm39) |
A470P |
probably damaging |
Het |
Cdc34 |
G |
T |
10: 79,520,845 (GRCm39) |
D11Y |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,387,320 (GRCm39) |
E1936G |
probably damaging |
Het |
Cnot6 |
A |
T |
11: 49,566,191 (GRCm39) |
N501K |
possibly damaging |
Het |
Cyth3 |
A |
C |
5: 143,678,328 (GRCm39) |
D44A |
probably benign |
Het |
Dchs1 |
C |
T |
7: 105,408,168 (GRCm39) |
G1888D |
probably damaging |
Het |
Ffar1 |
T |
G |
7: 30,560,334 (GRCm39) |
I188L |
probably benign |
Het |
Fhip1b |
G |
T |
7: 105,030,396 (GRCm39) |
D820E |
probably damaging |
Het |
Gpr17 |
A |
G |
18: 32,080,173 (GRCm39) |
Y297H |
probably damaging |
Het |
H2-M10.5 |
A |
C |
17: 37,084,729 (GRCm39) |
E151A |
probably damaging |
Het |
Hmcn1 |
C |
T |
1: 150,455,990 (GRCm39) |
R5310K |
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,313,357 (GRCm39) |
L3522P |
possibly damaging |
Het |
Hs2st1 |
T |
G |
3: 144,140,452 (GRCm39) |
T290P |
probably damaging |
Het |
Il5ra |
G |
A |
6: 106,715,066 (GRCm39) |
L231F |
probably benign |
Het |
Itgav |
T |
A |
2: 83,615,805 (GRCm39) |
C529S |
probably damaging |
Het |
Itprid1 |
A |
T |
6: 55,875,179 (GRCm39) |
R376S |
probably benign |
Het |
Lrrcc1 |
A |
G |
3: 14,605,044 (GRCm39) |
D138G |
possibly damaging |
Het |
Mat1a |
C |
T |
14: 40,843,851 (GRCm39) |
R357W |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mtss2 |
T |
C |
8: 111,465,222 (GRCm39) |
V492A |
possibly damaging |
Het |
Nalcn |
A |
G |
14: 123,752,771 (GRCm39) |
V330A |
probably damaging |
Het |
Neu3 |
A |
T |
7: 99,472,342 (GRCm39) |
|
probably null |
Het |
Nfx1 |
A |
G |
4: 40,976,968 (GRCm39) |
D214G |
possibly damaging |
Het |
Or2a14 |
T |
C |
6: 43,130,818 (GRCm39) |
L193P |
probably damaging |
Het |
Or2y17 |
G |
A |
11: 49,231,721 (GRCm39) |
D121N |
probably damaging |
Het |
Or4f14 |
T |
A |
2: 111,742,964 (GRCm39) |
I104F |
possibly damaging |
Het |
Or5b104 |
T |
C |
19: 13,072,707 (GRCm39) |
T102A |
probably benign |
Het |
Pcdhb14 |
A |
T |
18: 37,582,349 (GRCm39) |
H485L |
probably benign |
Het |
Pdss2 |
A |
C |
10: 43,289,521 (GRCm39) |
K342T |
possibly damaging |
Het |
Ppargc1a |
A |
G |
5: 51,647,570 (GRCm39) |
S254P |
probably damaging |
Het |
Prelid1 |
A |
G |
13: 55,470,833 (GRCm39) |
D87G |
probably damaging |
Het |
Prkg1 |
C |
A |
19: 31,279,709 (GRCm39) |
C190F |
probably damaging |
Het |
Psmb5 |
A |
G |
14: 54,851,837 (GRCm39) |
S116P |
possibly damaging |
Het |
Rassf6 |
A |
G |
5: 90,779,391 (GRCm39) |
V14A |
possibly damaging |
Het |
Ripk1 |
T |
C |
13: 34,211,934 (GRCm39) |
S415P |
probably damaging |
Het |
Rnft1 |
A |
T |
11: 86,386,132 (GRCm39) |
K344* |
probably null |
Het |
Sacs |
G |
A |
14: 61,429,702 (GRCm39) |
R587Q |
probably benign |
Het |
Skp2 |
A |
T |
15: 9,127,971 (GRCm39) |
|
probably null |
Het |
Spata31d1a |
T |
C |
13: 59,848,988 (GRCm39) |
K1047E |
possibly damaging |
Het |
Spopfm2 |
T |
A |
3: 94,083,119 (GRCm39) |
I231F |
possibly damaging |
Het |
Szt2 |
G |
A |
4: 118,245,518 (GRCm39) |
T1098I |
possibly damaging |
Het |
Tcf20 |
A |
G |
15: 82,740,152 (GRCm39) |
M433T |
probably benign |
Het |
Tsen54 |
T |
C |
11: 115,713,410 (GRCm39) |
F438L |
probably damaging |
Het |
Utp23 |
C |
T |
15: 51,745,614 (GRCm39) |
T144I |
probably damaging |
Het |
Vmn2r105 |
T |
C |
17: 20,455,134 (GRCm39) |
M1V |
probably null |
Het |
Wdfy4 |
C |
T |
14: 32,688,356 (GRCm39) |
V2926M |
probably damaging |
Het |
Zfp407 |
T |
C |
18: 84,578,021 (GRCm39) |
K1031E |
probably damaging |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAATAGGATCCACTTTGGTTTGTG -3'
(R):5'- GATCCCACAGCGATTTCTATTGTG -3'
Sequencing Primer
(F):5'- AGTCCTCAAAAAGTCCACTTAGTG -3'
(R):5'- TTCCAGAGACAACAGTAGAATTTCC -3'
|
Posted On |
2021-01-18 |