Incidental Mutation 'R1416:Afm'
ID |
159579 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afm
|
Ensembl Gene |
ENSMUSG00000029369 |
Gene Name |
afamin |
Synonyms |
alpha albumin, Alf |
MMRRC Submission |
039472-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R1416 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
90666808-90701403 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 90674238 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 250
(I250T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108804
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113179]
[ENSMUST00000128740]
|
AlphaFold |
O89020 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113179
AA Change: I250T
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000108804 Gene: ENSMUSG00000029369 AA Change: I250T
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
AA Change: I250T
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000117180 Gene: ENSMUSG00000029369 AA Change: I250T
Domain | Start | End | E-Value | Type |
ALBUMIN
|
20 |
205 |
3.69e-55 |
SMART |
ALBUMIN
|
212 |
397 |
6.42e-64 |
SMART |
|
Meta Mutation Damage Score |
0.0725 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
Validation Efficiency |
94% (63/67) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad11 |
T |
C |
9: 103,950,822 (GRCm39) |
S49P |
probably damaging |
Het |
Alox5 |
G |
A |
6: 116,400,106 (GRCm39) |
Q278* |
probably null |
Het |
Anxa7 |
G |
A |
14: 20,512,775 (GRCm39) |
R253C |
probably damaging |
Het |
Arfgef1 |
T |
A |
1: 10,243,164 (GRCm39) |
T1059S |
probably damaging |
Het |
Arpp21 |
T |
C |
9: 112,008,197 (GRCm39) |
E101G |
probably damaging |
Het |
Bcr |
A |
T |
10: 74,897,338 (GRCm39) |
I161F |
possibly damaging |
Het |
Ccdc141 |
T |
C |
2: 76,845,140 (GRCm39) |
E1309G |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Cep41 |
C |
T |
6: 30,657,356 (GRCm39) |
S233N |
probably damaging |
Het |
Col5a1 |
T |
G |
2: 27,812,076 (GRCm39) |
S53A |
unknown |
Het |
Cplane1 |
C |
T |
15: 8,276,422 (GRCm39) |
Q2689* |
probably null |
Het |
Efnb2 |
A |
G |
8: 8,672,329 (GRCm39) |
|
probably null |
Het |
Epb41l5 |
T |
C |
1: 119,477,606 (GRCm39) |
|
probably benign |
Het |
Eri2 |
A |
G |
7: 119,390,397 (GRCm39) |
F77S |
probably damaging |
Het |
Ern1 |
C |
T |
11: 106,312,806 (GRCm39) |
|
probably benign |
Het |
Eya3 |
T |
C |
4: 132,434,440 (GRCm39) |
|
probably benign |
Het |
Icos |
T |
C |
1: 61,033,802 (GRCm39) |
L144P |
probably damaging |
Het |
Ipo8 |
A |
G |
6: 148,690,591 (GRCm39) |
V717A |
probably benign |
Het |
Lrp12 |
T |
C |
15: 39,742,019 (GRCm39) |
E232G |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,888,228 (GRCm39) |
I2344T |
probably damaging |
Het |
Mettl5 |
A |
T |
2: 69,701,633 (GRCm39) |
F207I |
possibly damaging |
Het |
Mtor |
G |
T |
4: 148,575,871 (GRCm39) |
E1342* |
probably null |
Het |
Nrap |
A |
G |
19: 56,315,725 (GRCm39) |
Y1360H |
possibly damaging |
Het |
Nsun7 |
T |
C |
5: 66,418,423 (GRCm39) |
V51A |
probably damaging |
Het |
Or5an11 |
C |
A |
19: 12,246,258 (GRCm39) |
F221L |
probably benign |
Het |
Or5p5 |
T |
C |
7: 107,414,469 (GRCm39) |
L228P |
probably damaging |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Or8k27 |
T |
C |
2: 86,275,664 (GRCm39) |
I221V |
probably benign |
Het |
Or9m1b |
T |
A |
2: 87,836,915 (GRCm39) |
Y60F |
probably damaging |
Het |
Otud6b |
A |
C |
4: 14,818,473 (GRCm39) |
L143V |
probably damaging |
Het |
Pabir2 |
T |
C |
X: 52,335,023 (GRCm39) |
*256W |
probably null |
Het |
Pp2d1 |
T |
C |
17: 53,822,835 (GRCm39) |
N77S |
probably benign |
Het |
Ppp4r3c2 |
A |
T |
X: 88,797,283 (GRCm39) |
M372L |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Raly |
G |
T |
2: 154,699,273 (GRCm39) |
G26* |
probably null |
Het |
Rarb |
T |
C |
14: 16,435,177 (GRCm38) |
M290V |
possibly damaging |
Het |
Rusc2 |
A |
G |
4: 43,421,617 (GRCm39) |
E679G |
possibly damaging |
Het |
Scap |
T |
C |
9: 110,213,841 (GRCm39) |
V1268A |
probably damaging |
Het |
Setd1b |
C |
T |
5: 123,298,748 (GRCm39) |
|
probably benign |
Het |
Shisa3 |
C |
G |
5: 67,768,777 (GRCm39) |
P226A |
probably benign |
Het |
Smox |
C |
T |
2: 131,364,051 (GRCm39) |
S481F |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,531,453 (GRCm39) |
V2570A |
probably benign |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Sult4a1 |
C |
T |
15: 83,970,847 (GRCm39) |
R186Q |
probably benign |
Het |
Taf2 |
G |
T |
15: 54,901,806 (GRCm39) |
A796E |
possibly damaging |
Het |
Taf4b |
T |
C |
18: 14,954,484 (GRCm39) |
|
probably benign |
Het |
Thbs4 |
G |
T |
13: 92,898,041 (GRCm39) |
Q593K |
probably benign |
Het |
Tigd3 |
T |
C |
19: 5,941,753 (GRCm39) |
D459G |
probably benign |
Het |
Tmem168 |
A |
T |
6: 13,591,400 (GRCm39) |
L472Q |
probably damaging |
Het |
Tmem169 |
G |
T |
1: 72,339,875 (GRCm39) |
V102F |
probably damaging |
Het |
Tmem241 |
T |
C |
18: 12,126,631 (GRCm39) |
T274A |
probably benign |
Het |
Trip10 |
A |
G |
17: 57,557,800 (GRCm39) |
Y28C |
probably damaging |
Het |
Ubp1 |
T |
C |
9: 113,799,239 (GRCm39) |
V398A |
probably benign |
Het |
Ubr3 |
A |
G |
2: 69,775,415 (GRCm39) |
Y567C |
probably damaging |
Het |
Uckl1 |
A |
T |
2: 181,211,362 (GRCm39) |
M489K |
possibly damaging |
Het |
Ush2a |
C |
T |
1: 188,169,080 (GRCm39) |
P1074S |
probably damaging |
Het |
Vmn1r62 |
T |
C |
7: 5,678,904 (GRCm39) |
V195A |
probably damaging |
Het |
Vmn2r63 |
T |
A |
7: 42,577,339 (GRCm39) |
I400L |
probably benign |
Het |
Vmn2r67 |
T |
A |
7: 84,800,824 (GRCm39) |
I371F |
probably benign |
Het |
Wdr64 |
A |
G |
1: 175,633,568 (GRCm39) |
T940A |
probably benign |
Het |
Zfp105 |
A |
T |
9: 122,759,742 (GRCm39) |
Y471F |
probably damaging |
Het |
Zfp287 |
A |
T |
11: 62,605,166 (GRCm39) |
H580Q |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATGGTATGAATTGCCCTTGCTCC -3'
(R):5'- TGCCCAAGCTGATCACTATGCATTG -3'
Sequencing Primer
(F):5'- GCTCCTTCTACAATGCGTGTAAC -3'
(R):5'- AATGTACCTGGCTTCGGATG -3'
|
Posted On |
2014-03-14 |