Incidental Mutation 'IGL01508:Alb'
ID 89124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alb
Ensembl Gene ENSMUSG00000029368
Gene Name albumin
Synonyms Alb-1, Alb1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # IGL01508
Quality Score
Status
Chromosome 5
Chromosomal Location 90608756-90624461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90618697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 430 (A430V)
Ref Sequence ENSEMBL: ENSMUSP00000031314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031314]
AlphaFold P07724
Predicted Effect probably benign
Transcript: ENSMUST00000031314
AA Change: A430V

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000031314
Gene: ENSMUSG00000029368
AA Change: A430V

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,636,326 (GRCm39) R732* probably null Het
Adarb2 C A 13: 8,802,606 (GRCm39) probably null Het
Cdhr3 A T 12: 33,103,427 (GRCm39) F397I possibly damaging Het
Cmya5 A G 13: 93,230,535 (GRCm39) S1518P probably benign Het
Col6a4 T A 9: 105,890,804 (GRCm39) Y1830F possibly damaging Het
Col6a6 A G 9: 105,604,365 (GRCm39) probably benign Het
Dnah7a T C 1: 53,666,231 (GRCm39) S599G probably benign Het
Dnai4 G A 4: 102,929,884 (GRCm39) P369L possibly damaging Het
Fbxo3 A T 2: 103,864,021 (GRCm39) H92L probably benign Het
Ffar2 T C 7: 30,518,601 (GRCm39) D313G probably benign Het
Fnta T C 8: 26,497,294 (GRCm39) E185G probably damaging Het
Gdap2 C T 3: 100,078,243 (GRCm39) T69I possibly damaging Het
Gimap7 A T 6: 48,701,230 (GRCm39) N272I probably damaging Het
Gin1 T C 1: 97,705,162 (GRCm39) V84A probably benign Het
Itga8 A G 2: 12,237,613 (GRCm39) L369P possibly damaging Het
Itgax C T 7: 127,743,990 (GRCm39) T891I probably damaging Het
Lama1 T A 17: 68,116,356 (GRCm39) probably benign Het
Lkaaear1 T C 2: 181,338,830 (GRCm39) T169A probably benign Het
Nckap5 A G 1: 125,953,309 (GRCm39) V1017A probably damaging Het
Nemf A C 12: 69,391,760 (GRCm39) probably benign Het
Osr1 A G 12: 9,629,370 (GRCm39) D81G probably damaging Het
Pate4 A T 9: 35,519,602 (GRCm39) C29* probably null Het
Prkce C T 17: 86,937,513 (GRCm39) R649C probably damaging Het
Ptpn5 A G 7: 46,741,303 (GRCm39) V14A probably benign Het
Rnf166 C A 8: 123,197,081 (GRCm39) C57F probably damaging Het
Tenm3 A G 8: 48,729,680 (GRCm39) I1426T probably benign Het
Trpm6 C T 19: 18,773,894 (GRCm39) Q424* probably null Het
Ttc27 T A 17: 75,142,352 (GRCm39) S606T probably damaging Het
Tyrp1 T C 4: 80,759,002 (GRCm39) S292P possibly damaging Het
Wdr70 A G 15: 8,108,747 (GRCm39) V133A probably benign Het
Ylpm1 T C 12: 85,062,229 (GRCm39) F252S possibly damaging Het
Other mutations in Alb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Alb APN 5 90,619,932 (GRCm39) missense probably benign 0.00
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
R5583: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
Posted On 2013-12-03