Incidental Mutation 'R8236:Afm'
| ID |
637348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afm
|
| Ensembl Gene |
ENSMUSG00000029369 |
| Gene Name |
afamin |
| Synonyms |
alpha albumin, Alf |
| MMRRC Submission |
067668-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R8236 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
90666808-90701403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90671747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 143
(D143V)
|
| 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: D143V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108804
Gene: ENSMUSG00000029369
AA Change: D143V
| 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: D143V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117180
Gene: ENSMUSG00000029369
AA Change: D143V
| Domain | Start | End | E-Value | Type |
|---|
|
ALBUMIN
|
20 |
205 |
3.69e-55 |
SMART |
|
ALBUMIN
|
212 |
397 |
6.42e-64 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
100% (59/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810459M11Rik |
C |
T |
1: 85,974,115 (GRCm39) |
A144V |
possibly damaging |
Het |
| Actr8 |
A |
G |
14: 29,704,585 (GRCm39) |
I51M |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,645,181 (GRCm39) |
S753R |
possibly damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Bicdl1 |
T |
C |
5: 115,787,618 (GRCm39) |
H527R |
probably benign |
Het |
| Birc6 |
G |
C |
17: 74,918,126 (GRCm39) |
L1845F |
probably damaging |
Het |
| Brip1 |
C |
A |
11: 86,029,938 (GRCm39) |
D569Y |
probably damaging |
Het |
| Cab39 |
T |
C |
1: 85,776,092 (GRCm39) |
L263P |
probably damaging |
Het |
| Cblb |
C |
A |
16: 51,986,392 (GRCm39) |
P545Q |
possibly damaging |
Het |
| Cdk5rap2 |
G |
T |
4: 70,160,722 (GRCm39) |
P1579Q |
probably benign |
Het |
| Cdt1 |
A |
G |
8: 123,298,767 (GRCm39) |
E468G |
probably damaging |
Het |
| Col28a1 |
A |
G |
6: 8,097,024 (GRCm39) |
|
probably null |
Het |
| Coro2a |
A |
G |
4: 46,548,796 (GRCm39) |
I166T |
possibly damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,647,164 (GRCm39) |
A287T |
probably benign |
Het |
| Dcc |
C |
T |
18: 72,088,089 (GRCm39) |
V50I |
probably benign |
Het |
| Defb30 |
A |
T |
14: 63,287,216 (GRCm39) |
M19K |
unknown |
Het |
| Dync2h1 |
C |
A |
9: 7,080,363 (GRCm39) |
|
probably benign |
Het |
| Edc4 |
A |
G |
8: 106,618,905 (GRCm39) |
T1291A |
possibly damaging |
Het |
| Epyc |
A |
T |
10: 97,517,067 (GRCm39) |
N302Y |
probably damaging |
Het |
| Espn |
G |
A |
4: 152,233,487 (GRCm39) |
T106I |
probably damaging |
Het |
| Fam135a |
T |
C |
1: 24,059,729 (GRCm39) |
|
probably null |
Het |
| Fam171b |
G |
A |
2: 83,710,550 (GRCm39) |
E741K |
probably damaging |
Het |
| Fgfr1 |
G |
T |
8: 26,052,288 (GRCm39) |
E205* |
probably null |
Het |
| Flt3 |
A |
G |
5: 147,293,670 (GRCm39) |
S469P |
probably benign |
Het |
| Gdpd3 |
A |
G |
7: 126,367,838 (GRCm39) |
K224E |
probably benign |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gm43518 |
C |
T |
5: 124,072,285 (GRCm39) |
Q17* |
probably null |
Het |
| Gm4353 |
T |
C |
7: 115,682,618 (GRCm39) |
Y321C |
probably damaging |
Het |
| Gphn |
A |
G |
12: 78,711,311 (GRCm39) |
H631R |
probably damaging |
Het |
| Hook1 |
T |
A |
4: 95,903,042 (GRCm39) |
|
probably null |
Het |
| Il9 |
T |
A |
13: 56,630,058 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,292,281 (GRCm39) |
|
probably null |
Het |
| Lhcgr |
A |
T |
17: 89,050,014 (GRCm39) |
L504* |
probably null |
Het |
| Mical3 |
A |
G |
6: 120,989,504 (GRCm39) |
V272A |
|
Het |
| Mup10 |
A |
G |
4: 60,537,562 (GRCm39) |
I63T |
probably damaging |
Het |
| Mxi1 |
C |
G |
19: 53,358,029 (GRCm39) |
P165R |
probably damaging |
Het |
| Nanog |
A |
T |
6: 122,690,131 (GRCm39) |
I179F |
probably benign |
Het |
| Or5w14 |
T |
A |
2: 87,542,104 (GRCm39) |
I49F |
possibly damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pip |
A |
G |
6: 41,824,596 (GRCm39) |
D28G |
probably damaging |
Het |
| Ppp2r3d |
T |
C |
9: 124,440,067 (GRCm38) |
H53R |
|
Het |
| Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
| Ptpn4 |
A |
G |
1: 119,606,552 (GRCm39) |
V781A |
possibly damaging |
Het |
| Ptprt |
C |
T |
2: 161,528,988 (GRCm39) |
|
probably null |
Het |
| Rtf1 |
T |
C |
2: 119,531,695 (GRCm39) |
S141P |
probably damaging |
Het |
| Slc2a1 |
G |
C |
4: 118,990,454 (GRCm39) |
S226T |
probably benign |
Het |
| Smyd3 |
A |
C |
1: 179,233,205 (GRCm39) |
|
probably null |
Het |
| Sos1 |
T |
C |
17: 80,715,712 (GRCm39) |
E1015G |
probably benign |
Het |
| Sult1b1 |
G |
T |
5: 87,669,383 (GRCm39) |
T155N |
probably damaging |
Het |
| Tcam1 |
A |
G |
11: 106,177,243 (GRCm39) |
I412V |
probably benign |
Het |
| Tet2 |
G |
A |
3: 133,193,547 (GRCm39) |
P296S |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,096,542 (GRCm39) |
D193G |
probably null |
Het |
| Trem2 |
G |
T |
17: 48,658,934 (GRCm39) |
W233L |
probably benign |
Het |
| Trpm3 |
C |
A |
19: 22,964,772 (GRCm39) |
D1422E |
probably benign |
Het |
| Ttbk1 |
T |
G |
17: 46,781,655 (GRCm39) |
D366A |
probably damaging |
Het |
| Ttyh1 |
G |
A |
7: 4,128,547 (GRCm39) |
G148D |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,262,835 (GRCm39) |
M1259V |
probably benign |
Het |
| Zfp608 |
T |
A |
18: 55,032,281 (GRCm39) |
D553V |
probably damaging |
Het |
| Zkscan2 |
A |
G |
7: 123,079,135 (GRCm39) |
S941P |
probably benign |
Het |
| Zranb1 |
T |
C |
7: 132,551,393 (GRCm39) |
Y15H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTCAAAGGTGGTACTGTCC -3'
(R):5'- GAAAGGCTGAAGCTGTTTGG -3'
Sequencing Primer
(F):5'- CCTTCTCCGTGGATAGAAAGAGTC -3'
(R):5'- GCTGAAGCTGTTTGGAAAATAAAAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation