Incidental Mutation 'IGL02531:Alb'
ID 297313
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 # IGL02531
Quality Score
Status
Chromosome 5
Chromosomal Location 90608756-90624461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90615307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 273 (D273G)
Ref Sequence ENSEMBL: ENSMUSP00000031314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031314]
AlphaFold P07724
Predicted Effect probably damaging
Transcript: ENSMUST00000031314
AA Change: D273G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031314
Gene: ENSMUSG00000029368
AA Change: D273G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201737
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 C A 6: 86,933,429 (GRCm39) H467N unknown Het
Arap3 A G 18: 38,122,804 (GRCm39) S531P probably damaging Het
Bmpr2 T A 1: 59,884,873 (GRCm39) probably null Het
Cfhr4 T C 1: 139,702,307 (GRCm39) K59R probably benign Het
Chd7 G A 4: 8,854,134 (GRCm39) R1902H probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2b13 A T 7: 25,761,030 (GRCm39) H29L possibly damaging Het
Enpp5 G T 17: 44,391,843 (GRCm39) V91F probably damaging Het
Fam210b T C 2: 172,194,675 (GRCm39) Y176H probably damaging Het
Fam83b T C 9: 76,399,282 (GRCm39) E607G possibly damaging Het
Hhla1 C T 15: 65,839,256 (GRCm39) probably benign Het
Kdm3b A G 18: 34,928,782 (GRCm39) T178A probably benign Het
Klf1 T A 8: 85,631,437 (GRCm39) F334I probably damaging Het
Klra8 A G 6: 130,095,933 (GRCm39) S220P possibly damaging Het
Medag A G 5: 149,345,616 (GRCm39) N99S probably benign Het
Muc6 T C 7: 141,216,853 (GRCm39) T2607A possibly damaging Het
Mug2 T G 6: 122,049,730 (GRCm39) L921R probably damaging Het
Nacad T C 11: 6,548,580 (GRCm39) N1385D possibly damaging Het
Nin A G 12: 70,067,706 (GRCm39) F1983L probably benign Het
Nipal4 T C 11: 46,042,152 (GRCm39) I176M probably damaging Het
Orc6 T C 8: 86,029,998 (GRCm39) S47P probably damaging Het
Ovch2 C T 7: 107,389,405 (GRCm39) C341Y probably damaging Het
Polq T A 16: 36,882,736 (GRCm39) H1633Q possibly damaging Het
Rab23 T C 1: 33,777,361 (GRCm39) probably benign Het
Rai14 A G 15: 10,574,868 (GRCm39) S697P probably damaging Het
Rnf213 T C 11: 119,327,628 (GRCm39) F1872L probably benign Het
Sdhc T C 1: 170,963,587 (GRCm39) H127R probably damaging Het
Snx9 T C 17: 5,942,095 (GRCm39) V74A probably benign Het
Spata31d1d A G 13: 59,875,748 (GRCm39) S596P possibly damaging Het
Syt14 T C 1: 192,584,242 (GRCm39) *78W probably null Het
Thoc1 A G 18: 9,970,258 (GRCm39) T203A probably benign Het
Trmt13 A G 3: 116,385,840 (GRCm39) probably null Het
Ttc28 A G 5: 111,373,716 (GRCm39) I1020V probably damaging Het
Vmn2r16 A G 5: 109,488,134 (GRCm39) T336A probably damaging Het
Other mutations in Alb
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16