Incidental Mutation 'R5583:Alb'
| ID |
438562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alb
|
| Ensembl Gene |
ENSMUSG00000029368 |
| Gene Name |
albumin |
| Synonyms |
Alb-1, Alb1 |
| MMRRC Submission |
043137-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R5583 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
90608756-90624461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90616452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 319
(H319L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031314]
|
| AlphaFold |
P07724 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031314
AA Change: H319L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000031314
Gene: ENSMUSG00000029368
AA Change: H319L
| Domain | Start | End | E-Value | Type |
|---|
|
ALBUMIN
|
20 |
205 |
1.54e-84 |
SMART |
|
ALBUMIN
|
212 |
397 |
3.43e-82 |
SMART |
|
ALBUMIN
|
404 |
595 |
1.51e-83 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201356
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (60/62) |
| MGI Phenotype |
FUNCTION: This gene encodes albumin, an abundant plasma protein essential for maintaining oncotic pressure that functions as a carrier protein for various molecules such as steriods and fatty acids in blood. This gene is primarily expressed in liver where the encoded protein undergoes proteolytic processing before secretion into the plasma. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a TALEN-mediated deletion exhibit analbuminemia but appear healthy and grossly normal and breed normally. Mice heterozygotes for an ENU-induced point mutation have significantly reduced plasma albumin and calcium levels and significantly elevated alkaline phosphatase activity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,793,083 (GRCm39) |
L8Q |
probably damaging |
Het |
| Abca4 |
T |
C |
3: 121,942,550 (GRCm39) |
V1681A |
probably damaging |
Het |
| Abce1 |
G |
T |
8: 80,416,922 (GRCm39) |
A363E |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,564,800 (GRCm39) |
Y256C |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,695,740 (GRCm39) |
C416R |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,984,281 (GRCm39) |
V1855D |
probably damaging |
Het |
| Ankrd35 |
G |
T |
3: 96,592,219 (GRCm39) |
R835L |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,615,414 (GRCm39) |
D1014G |
possibly damaging |
Het |
| Cdk6 |
T |
A |
5: 3,394,436 (GRCm39) |
Y24N |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,752,473 (GRCm39) |
N323K |
probably damaging |
Het |
| Cops9 |
A |
T |
1: 92,567,489 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,879,506 (GRCm39) |
T561A |
probably benign |
Het |
| Dcdc5 |
T |
C |
2: 106,195,778 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7b |
G |
T |
1: 46,281,359 (GRCm39) |
A2807S |
probably benign |
Het |
| Fam149b |
A |
G |
14: 20,413,368 (GRCm39) |
T196A |
possibly damaging |
Het |
| Fam217a |
C |
A |
13: 35,094,280 (GRCm39) |
C402F |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,144,715 (GRCm39) |
V4053E |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,791,004 (GRCm39) |
V755A |
probably damaging |
Het |
| Fxr1 |
C |
A |
3: 34,123,125 (GRCm39) |
S641R |
probably benign |
Het |
| Gata5 |
A |
T |
2: 179,976,047 (GRCm39) |
M39K |
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,807,278 (GRCm39) |
D1658E |
probably damaging |
Het |
| Gpr180 |
C |
T |
14: 118,400,110 (GRCm39) |
T426M |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Helq |
T |
C |
5: 100,910,459 (GRCm39) |
E1039G |
probably damaging |
Het |
| Hibch |
T |
A |
1: 52,940,406 (GRCm39) |
Y192N |
probably damaging |
Het |
| Hp1bp3 |
A |
G |
4: 137,949,426 (GRCm39) |
I41M |
probably damaging |
Het |
| Itpripl2 |
G |
T |
7: 118,089,101 (GRCm39) |
P486Q |
probably benign |
Het |
| Kcnj6 |
T |
C |
16: 94,634,060 (GRCm39) |
D17G |
probably benign |
Het |
| Kprp |
T |
A |
3: 92,731,643 (GRCm39) |
Y469F |
unknown |
Het |
| Kremen2 |
T |
C |
17: 23,961,229 (GRCm39) |
T373A |
probably benign |
Het |
| Lgi4 |
A |
G |
7: 30,760,562 (GRCm39) |
Y39C |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,314,409 (GRCm39) |
D176G |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,424,332 (GRCm39) |
S785G |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,598,325 (GRCm39) |
Q920L |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,455,196 (GRCm39) |
E1362G |
probably damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,272 (GRCm39) |
S8P |
probably damaging |
Het |
| Or2h1b |
T |
C |
17: 37,462,485 (GRCm39) |
Q126R |
probably benign |
Het |
| Pde4dip |
C |
T |
3: 97,654,892 (GRCm39) |
R888Q |
possibly damaging |
Het |
| Per1 |
A |
G |
11: 68,994,271 (GRCm39) |
H494R |
probably damaging |
Het |
| Pira2 |
A |
G |
7: 3,845,545 (GRCm39) |
F280L |
probably benign |
Het |
| Plekhm3 |
C |
T |
1: 64,977,145 (GRCm39) |
W108* |
probably null |
Het |
| Ptcd3 |
A |
G |
6: 71,879,920 (GRCm39) |
S113P |
probably damaging |
Het |
| Scarf1 |
T |
C |
11: 75,404,842 (GRCm39) |
L42P |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,876,739 (GRCm39) |
C710Y |
probably damaging |
Het |
| Skint1 |
A |
C |
4: 111,876,253 (GRCm39) |
Q58P |
probably damaging |
Het |
| Spata7 |
A |
T |
12: 98,635,590 (GRCm39) |
N438I |
probably damaging |
Het |
| Spdya |
C |
A |
17: 71,876,126 (GRCm39) |
D164E |
probably damaging |
Het |
| Speer3 |
G |
A |
5: 13,844,782 (GRCm39) |
|
probably null |
Het |
| Ssc4d |
A |
T |
5: 135,999,050 (GRCm39) |
L51H |
probably damaging |
Het |
| Steap1 |
A |
G |
5: 5,790,579 (GRCm39) |
I123T |
possibly damaging |
Het |
| Styx |
T |
A |
14: 45,608,483 (GRCm39) |
F147I |
possibly damaging |
Het |
| Suv39h2 |
T |
A |
2: 3,475,890 (GRCm39) |
|
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,373,446 (GRCm39) |
V84A |
probably benign |
Het |
| Tlcd1 |
T |
G |
11: 78,069,762 (GRCm39) |
V25G |
probably benign |
Het |
| Tmem79 |
T |
C |
3: 88,239,870 (GRCm39) |
Y280C |
probably damaging |
Het |
| Trim5 |
T |
A |
7: 103,926,042 (GRCm39) |
N173I |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,208,027 (GRCm39) |
D194E |
probably damaging |
Het |
| Zfp2 |
T |
C |
11: 50,790,984 (GRCm39) |
E353G |
possibly damaging |
Het |
|
| Other mutations in Alb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Alb
|
APN |
5 |
90,619,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01508:Alb
|
APN |
5 |
90,618,697 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01722:Alb
|
APN |
5 |
90,618,698 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02103:Alb
|
APN |
5 |
90,611,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02379:Alb
|
APN |
5 |
90,613,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02531:Alb
|
APN |
5 |
90,615,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02704:Alb
|
APN |
5 |
90,616,368 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02828:Alb
|
APN |
5 |
90,615,247 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03248:Alb
|
APN |
5 |
90,609,573 (GRCm39) |
splice site |
probably benign |
|
|
Flavius
|
UTSW |
5 |
90,615,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0714:Alb
|
UTSW |
5 |
90,610,665 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1418:Alb
|
UTSW |
5 |
90,612,061 (GRCm39) |
splice site |
probably benign |
|
|
R1708:Alb
|
UTSW |
5 |
90,611,910 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2092:Alb
|
UTSW |
5 |
90,611,842 (GRCm39) |
frame shift |
probably null |
|
|
R4473:Alb
|
UTSW |
5 |
90,611,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4670:Alb
|
UTSW |
5 |
90,610,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4758:Alb
|
UTSW |
5 |
90,616,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6384:Alb
|
UTSW |
5 |
90,620,499 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7268:Alb
|
UTSW |
5 |
90,610,575 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7295:Alb
|
UTSW |
5 |
90,610,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7320:Alb
|
UTSW |
5 |
90,612,846 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7337:Alb
|
UTSW |
5 |
90,622,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7505:Alb
|
UTSW |
5 |
90,617,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7575:Alb
|
UTSW |
5 |
90,613,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7651:Alb
|
UTSW |
5 |
90,615,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7652:Alb
|
UTSW |
5 |
90,615,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Alb
|
UTSW |
5 |
90,615,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7669:Alb
|
UTSW |
5 |
90,611,850 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7870:Alb
|
UTSW |
5 |
90,620,488 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7879:Alb
|
UTSW |
5 |
90,620,507 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7950:Alb
|
UTSW |
5 |
90,620,323 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7978:Alb
|
UTSW |
5 |
90,619,932 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8077:Alb
|
UTSW |
5 |
90,615,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8078:Alb
|
UTSW |
5 |
90,615,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8316:Alb
|
UTSW |
5 |
90,616,449 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8480:Alb
|
UTSW |
5 |
90,610,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8531:Alb
|
UTSW |
5 |
90,611,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8714:Alb
|
UTSW |
5 |
90,608,874 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8986:Alb
|
UTSW |
5 |
90,615,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9368:Alb
|
UTSW |
5 |
90,623,143 (GRCm39) |
missense |
probably benign |
|
|
R9469:Alb
|
UTSW |
5 |
90,610,659 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9498:Alb
|
UTSW |
5 |
90,617,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9647:Alb
|
UTSW |
5 |
90,620,544 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9723:Alb
|
UTSW |
5 |
90,611,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Alb
|
UTSW |
5 |
90,616,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGCAGGATGAAGACACTTTC -3'
(R):5'- AGTCCTGCTAACACCAAAGG -3'
Sequencing Primer
(F):5'- GGATGAAGACACTTTCCTCACATG -3'
(R):5'- GAAAGCCTGGTGTAGAGTCC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation