Incidental Mutation 'R7870:Alb'
ID 608037
Institutional Source Beutler Lab
Gene Symbol Alb
Ensembl Gene ENSMUSG00000029368
Gene Name albumin
Synonyms Alb-1, Alb1
MMRRC Submission 045922-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # R7870 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 90608756-90624461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90620488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 533 (F533L)
Ref Sequence ENSEMBL: ENSMUSP00000031314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031314]
AlphaFold P07724
Predicted Effect possibly damaging
Transcript: ENSMUST00000031314
AA Change: F533L

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031314
Gene: ENSMUSG00000029368
AA Change: F533L

DomainStartEndE-ValueType
ALBUMIN 20 205 1.54e-84 SMART
ALBUMIN 212 397 3.43e-82 SMART
ALBUMIN 404 595 1.51e-83 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,441,505 (GRCm39) F171L probably benign Het
2410137M14Rik A T 17: 37,288,909 (GRCm39) C152S unknown Het
Alox12b T C 11: 69,060,135 (GRCm39) M616T possibly damaging Het
Atxn2l A G 7: 126,091,924 (GRCm39) F968L probably benign Het
Cadps2 G T 6: 23,263,641 (GRCm39) H1227Q probably benign Het
Cdh18 A T 15: 23,474,413 (GRCm39) D761V possibly damaging Het
Cdkl3 T C 11: 51,909,284 (GRCm39) probably null Het
Chrdl2 T C 7: 99,659,249 (GRCm39) L9P unknown Het
Ctr9 A G 7: 110,651,618 (GRCm39) E946G unknown Het
Cygb T A 11: 116,540,116 (GRCm39) T178S probably benign Het
Cyp2c67 A C 19: 39,597,669 (GRCm39) M443R probably damaging Het
Dnah12 A G 14: 26,578,486 (GRCm39) T3082A probably benign Het
Flnc C T 6: 29,454,306 (GRCm39) T1906I probably damaging Het
Gm14496 A G 2: 181,637,906 (GRCm39) I327V probably benign Het
Gm29106 T A 1: 118,126,885 (GRCm39) N192K possibly damaging Het
H3f3a A T 1: 180,639,490 (GRCm39) M1K probably null Het
Htt T A 5: 35,055,891 (GRCm39) W2601R possibly damaging Het
Il18r1 T A 1: 40,530,296 (GRCm39) I341K probably benign Het
Kcnj1 G A 9: 32,307,881 (GRCm39) V102I probably benign Het
Lrp3 C A 7: 34,910,922 (GRCm39) G41V probably damaging Het
Lrrc9 G T 12: 72,532,964 (GRCm39) K944N probably damaging Het
Mettl21e T A 1: 44,249,371 (GRCm39) E95V probably damaging Het
Mib1 G A 18: 10,798,446 (GRCm39) R769Q possibly damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Mymk A G 2: 26,952,298 (GRCm39) S190P probably damaging Het
Neb G A 2: 52,215,761 (GRCm39) P182L probably damaging Het
Nfil3 A G 13: 53,122,449 (GRCm39) Y152H probably damaging Het
Nisch A G 14: 30,894,052 (GRCm39) Y1174H probably damaging Het
Nyap1 G C 5: 137,733,658 (GRCm39) Y458* probably null Het
Or4d5 A C 9: 40,011,973 (GRCm39) V271G possibly damaging Het
Or52z13 T A 7: 103,247,473 (GRCm39) C317S probably damaging Het
Or5h17 G A 16: 58,820,086 (GRCm39) V13I probably benign Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Patj G T 4: 98,312,553 (GRCm39) G297V probably damaging Het
Pcdh9 A T 14: 94,124,693 (GRCm39) S492R probably damaging Het
Pcyox1 G A 6: 86,369,323 (GRCm39) R168C probably damaging Het
Plbd1 A T 6: 136,594,326 (GRCm39) Y308N possibly damaging Het
Rax A G 18: 66,071,284 (GRCm39) V117A probably benign Het
Rdh9 C A 10: 127,612,566 (GRCm39) N71K probably benign Het
Sap130 A G 18: 31,853,714 (GRCm39) N968S probably benign Het
Sema5a A T 15: 32,609,485 (GRCm39) I464F probably benign Het
Sez6l T G 5: 112,586,447 (GRCm39) D683A probably damaging Het
Slit2 C A 5: 48,459,649 (GRCm39) P1310T probably damaging Het
Snap47 T C 11: 59,328,904 (GRCm39) M133V probably benign Het
Son TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC 16: 91,453,486 (GRCm39) probably benign Het
Srcap G A 7: 127,159,730 (GRCm39) S3202N unknown Het
Ssh2 T C 11: 77,344,441 (GRCm39) W809R probably benign Het
Stau1 G T 2: 166,792,870 (GRCm39) A365D possibly damaging Het
Tfpi2 A G 6: 3,968,281 (GRCm39) L15P probably damaging Het
Thbs1 A T 2: 117,945,508 (GRCm39) N329I possibly damaging Het
Tmem65 A T 15: 58,659,010 (GRCm39) D184E probably damaging Het
Trpm6 G T 19: 18,792,605 (GRCm39) E676D probably benign Het
Vdr T G 15: 97,782,771 (GRCm39) D17A possibly damaging Het
Vmn1r123 C T 7: 20,896,192 (GRCm39) T28I probably damaging Het
Wdr90 A G 17: 26,079,513 (GRCm39) L207P probably damaging Het
Zfp354c TGTCACACTCG TG 11: 50,706,065 (GRCm39) probably benign Het
Zfp598 A G 17: 24,898,304 (GRCm39) E402G 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
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
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'- AGGCTGGATTTCTAATGGCTAAC -3'
(R):5'- CTTTCAACTCAGTGATGCCAAC -3'

Sequencing Primer
(F):5'- TCTAATGGCTAACTCCATATGACAG -3'
(R):5'- CAACATCTAAACACTTCTCTCTAAGG -3'
Posted On 2019-12-20