Incidental Mutation 'R8261:Lalba'
ID 639952
Institutional Source Beutler Lab
Gene Symbol Lalba
Ensembl Gene ENSMUSG00000022991
Gene Name lactalbumin, alpha
Synonyms lactalbumin alpha
MMRRC Submission 067686-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R8261 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 98378281-98380602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98379992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 86 (F86Y)
Ref Sequence ENSEMBL: ENSMUSP00000023726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023726]
AlphaFold P29752
PDB Structure Crystal Structure of Lactose Synthase, Complex with Glucose [X-RAY DIFFRACTION]
Crystal structure of Lactose synthase complex with UDP [X-RAY DIFFRACTION]
Crystal structure of Lactose synthase complex with UDP and Manganese [X-RAY DIFFRACTION]
beta-1,4-galactosyltransferase mutant Cys342Thr complex with alpha-lactalbumin and GlcNAc [X-RAY DIFFRACTION]
crystal structure of lactose synthase, a 1:1 complex between beta1,4-galactosyltransferase and alpha-lactalbumin in the presence of GlcNAc [X-RAY DIFFRACTION]
BETA-1,4-GALACTOSYLTRANSFERASE COMPLEX WITH ALPHA-LACTALBUMIN AND N-BUTANOYL-GLUCOAMINE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF LACTOSE SYNTHASE IN THE PRESENCE OF UDP-GLUCOSE [X-RAY DIFFRACTION]
A 1:1 complex between alpha-lactalbumin and beta1,4-galactosyltransferase in the presence of UDP-N-acetyl-galactosamine [X-RAY DIFFRACTION]
W314A-BETA1,4-GALACTOSYLTRANSFERASE-I COMPLEXED WITH ALPHA-LACTALBUMIN IN THE PRESENCE OF N-ACETYLGLUCOSAMINE, UDP AND MANGANESE [X-RAY DIFFRACTION]
Crystal structure of beta14,-galactosyltransferase mutant ARG228Lys in complex with alpha-lactalbumin in the presence of UDP-galactose and Mn [X-RAY DIFFRACTION]
>> 2 additional structures at PDB <<
Predicted Effect possibly damaging
Transcript: ENSMUST00000023726
AA Change: F86Y

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000023726
Gene: ENSMUSG00000022991
AA Change: F86Y

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LYZ1 21 141 3.77e-70 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (76/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T1) forms the catalytic component. Together, these proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds calcium and zinc ions and may possess bactericidal or antitumor activity. A folding variant of alpha-lactalbumin, called HAMLET, likely induces apoptosis in tumor and immature cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null females are unable to nurse their offspring and have increased milk viscosity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,888,425 (GRCm39) E5G probably benign Het
Adam23 T C 1: 63,567,957 (GRCm39) V202A noncoding transcript Het
Adamtsl1 A C 4: 86,195,120 (GRCm39) E512D probably damaging Het
Ahnak A T 19: 8,982,817 (GRCm39) D1367V probably damaging Het
Angpt4 A T 2: 151,769,084 (GRCm39) Q198L probably benign Het
Apcdd1 T A 18: 63,066,974 (GRCm39) H29Q possibly damaging Het
Cdh16 T A 8: 105,341,811 (GRCm39) K755* probably null Het
Cdk6 T G 5: 3,440,685 (GRCm39) F80V probably benign Het
Chd1 T C 17: 17,607,804 (GRCm39) S451P probably benign Het
Chd6 A G 2: 160,799,002 (GRCm39) L2361P probably damaging Het
Chst8 A G 7: 34,447,579 (GRCm39) M13T possibly damaging Het
Cntnap2 T C 6: 47,072,627 (GRCm39) L1065P probably damaging Het
Dctn4 T C 18: 60,659,343 (GRCm39) V14A possibly damaging Het
Dicer1 A T 12: 104,657,865 (GRCm39) V1903D probably damaging Het
E2f2 A G 4: 135,911,791 (GRCm39) silent Het
Eif4g3 T A 4: 137,898,429 (GRCm39) S902T possibly damaging Het
Emid1 G T 11: 5,084,353 (GRCm39) A152D probably benign Het
Fer1l6 T A 15: 58,432,345 (GRCm39) N297K possibly damaging Het
Fes T C 7: 80,032,902 (GRCm39) D281G probably null Het
Frmpd2 T C 14: 33,224,934 (GRCm39) V133A probably benign Het
Fry A G 5: 150,369,372 (GRCm39) Y2282C probably damaging Het
Gm10377 C T 14: 42,616,664 (GRCm39) probably null Het
Gm1527 A G 3: 28,974,749 (GRCm39) T521A probably damaging Het
Gpr141 T A 13: 19,936,013 (GRCm39) H254L probably benign Het
Gpr160 A G 3: 30,950,096 (GRCm39) E56G probably benign Het
Grid2ip T G 5: 143,367,695 (GRCm39) probably null Het
Grin2a A G 16: 9,481,382 (GRCm39) F473S probably damaging Het
Igkv1-131 T C 6: 67,743,102 (GRCm39) T94A probably damaging Het
Inava T A 1: 136,153,215 (GRCm39) N226Y probably damaging Het
Iqgap2 A G 13: 95,772,078 (GRCm39) L1367P probably damaging Het
Kdm5d T A Y: 936,929 (GRCm39) M856K probably damaging Het
Kirrel1 T C 3: 86,995,309 (GRCm39) probably benign Het
Lad1 T C 1: 135,755,500 (GRCm39) S259P probably damaging Het
Lrfn5 G A 12: 61,886,323 (GRCm39) C37Y probably damaging Het
Man2c1 A G 9: 57,046,942 (GRCm39) T665A probably benign Het
Ms4a20 T A 19: 11,087,707 (GRCm39) S75C probably damaging Het
Myh11 T C 16: 14,041,867 (GRCm39) I719V Het
Nbl1 A T 4: 138,812,832 (GRCm39) C34S probably damaging Het
Ncapg T A 5: 45,844,730 (GRCm39) I575N possibly damaging Het
Nlgn1 T C 3: 25,487,816 (GRCm39) T840A possibly damaging Het
Nrdc T C 4: 108,873,876 (GRCm39) S231P possibly damaging Het
Nrg2 T C 18: 36,165,428 (GRCm39) K395E probably benign Het
Nrip1 A T 16: 76,088,949 (GRCm39) N869K possibly damaging Het
Or2a14 T A 6: 43,130,242 (GRCm39) M1K probably null Het
Or4c12 A G 2: 89,773,716 (GRCm39) F248L probably benign Het
Or8s16 A T 15: 98,210,546 (GRCm39) M295K probably benign Het
Otub2 G T 12: 103,369,161 (GRCm39) probably null Het
Paxbp1 T C 16: 90,834,303 (GRCm39) D161G probably benign Het
Pcnx3 C T 19: 5,715,412 (GRCm39) G1946E probably damaging Het
Per2 T A 1: 91,361,170 (GRCm39) Q495L possibly damaging Het
Plxna2 T A 1: 194,431,724 (GRCm39) V571E probably damaging Het
Prr7 C A 13: 55,620,735 (GRCm39) P248T possibly damaging Het
Ptprr A T 10: 116,073,169 (GRCm39) T464S possibly damaging Het
Rapgef2 A G 3: 78,993,325 (GRCm39) V721A probably benign Het
Rfx1 A T 8: 84,819,479 (GRCm39) Y625F probably benign Het
Rps6kb2 G T 19: 4,211,195 (GRCm39) A110D possibly damaging Het
Setdb2 A T 14: 59,651,141 (GRCm39) probably benign Het
Slc25a31 T C 3: 40,679,351 (GRCm39) I272T probably damaging Het
Smpd1 T C 7: 105,204,520 (GRCm39) V133A probably benign Het
Sorl1 T C 9: 41,925,777 (GRCm39) D1185G probably damaging Het
Spag6 T A 2: 18,750,301 (GRCm39) L449H probably benign Het
Sptb C A 12: 76,668,036 (GRCm39) R687L probably benign Het
Sptbn5 A T 2: 119,877,616 (GRCm39) V1012E noncoding transcript Het
Tmem192 A G 8: 65,416,972 (GRCm39) I188V probably benign Het
Tmem253 G A 14: 52,256,708 (GRCm39) V194M probably benign Het
Tph1 A G 7: 46,303,173 (GRCm39) silent Het
Trak1 A G 9: 121,280,733 (GRCm39) E374G probably damaging Het
Trpv1 A T 11: 73,145,593 (GRCm39) probably null Het
Trub2 T C 2: 29,667,725 (GRCm39) H305R probably benign Het
Ttn A G 2: 76,747,768 (GRCm39) V4427A probably benign Het
Vasn A G 16: 4,466,160 (GRCm39) T36A probably damaging Het
Vmn1r8 A T 6: 57,013,158 (GRCm39) I70F probably benign Het
Vps13c A T 9: 67,862,262 (GRCm39) I2960L probably damaging Het
Zdhhc4 C A 5: 143,307,588 (GRCm39) M144I probably benign Het
Zfp273 T A 13: 67,974,070 (GRCm39) N399K probably benign Het
Zfp976 T A 7: 42,262,125 (GRCm39) T572S unknown Het
Zmym4 A G 4: 126,798,360 (GRCm39) C756R probably damaging Het
Other mutations in Lalba
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Lalba APN 15 98,379,948 (GRCm39) splice site probably null
R4510:Lalba UTSW 15 98,380,422 (GRCm39) missense probably benign 0.01
R4511:Lalba UTSW 15 98,380,422 (GRCm39) missense probably benign 0.01
R4630:Lalba UTSW 15 98,380,549 (GRCm39) missense probably benign 0.13
R4914:Lalba UTSW 15 98,380,061 (GRCm39) missense probably benign 0.22
R6405:Lalba UTSW 15 98,378,632 (GRCm39) critical splice acceptor site probably null
R7706:Lalba UTSW 15 98,379,474 (GRCm39) missense probably damaging 1.00
R7727:Lalba UTSW 15 98,380,549 (GRCm39) missense probably benign 0.13
R9391:Lalba UTSW 15 98,380,417 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCTGGGCATGTGGAGATC -3'
(R):5'- CCAGTGTTTCAATTATGGTACTCTGAG -3'

Sequencing Primer
(F):5'- GACCAGTGACCAGGTTCTTACTAAG -3'
(R):5'- TCTGAGACATCTCTGAGAAAGTTC -3'
Posted On 2020-07-28