Incidental Mutation 'R6405:Lalba'
ID 516269
Institutional Source Beutler Lab
Gene Symbol Lalba
Ensembl Gene ENSMUSG00000022991
Gene Name lactalbumin, alpha
Synonyms lactalbumin alpha
MMRRC Submission 044550-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R6405 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 98378281-98380602 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to G at 98378632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023726] [ENSMUST00000216180]
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 probably null
Transcript: ENSMUST00000023726
SMART Domains Protein: ENSMUSP00000023726
Gene: ENSMUSG00000022991

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LYZ1 21 141 3.77e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000216180
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,669,742 (GRCm39) V769A probably damaging Het
Abca4 A G 3: 121,967,311 (GRCm39) probably null Het
Ahnak2 A T 12: 112,739,771 (GRCm39) S628T probably damaging Het
Ano8 T C 8: 71,935,674 (GRCm39) T315A probably damaging Het
Arhgap32 T A 9: 32,159,784 (GRCm39) V267E probably benign Het
Asnsd1 A T 1: 53,387,154 (GRCm39) S158T probably damaging Het
Asxl2 T A 12: 3,543,758 (GRCm39) V309E probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Ccdc110 T A 8: 46,394,734 (GRCm39) Y208* probably null Het
Cfap157 G T 2: 32,671,408 (GRCm39) Q133K probably damaging Het
Cfap53 A G 18: 74,492,677 (GRCm39) E467G probably damaging Het
Csmd3 T C 15: 47,683,767 (GRCm39) I1688M probably damaging Het
Cyp3a11 A T 5: 145,799,230 (GRCm39) L319Q probably damaging Het
Dchs2 A G 3: 83,261,570 (GRCm39) I2613V probably benign Het
Dhx35 T A 2: 158,636,839 (GRCm39) W11R probably damaging Het
Dscam C T 16: 96,479,625 (GRCm39) G1174D probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Greb1l T A 18: 10,501,076 (GRCm39) I402K probably benign Het
Hectd3 A T 4: 116,857,821 (GRCm39) M585L probably benign Het
Inpp5k T C 11: 75,524,004 (GRCm39) probably null Het
Lgals9 C A 11: 78,862,211 (GRCm39) V125L probably benign Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Or2g25 A G 17: 37,971,014 (GRCm39) I70T possibly damaging Het
Peg10 C CTCG 6: 4,756,453 (GRCm39) probably benign Het
Rab4b T A 7: 26,872,379 (GRCm39) D94V probably damaging Het
Rhpn2 A G 7: 35,071,864 (GRCm39) E243G probably benign Het
Rp1 T C 1: 4,415,994 (GRCm39) D1706G probably damaging Het
Slc29a3 A T 10: 60,551,805 (GRCm39) I413N probably damaging Het
Slc7a9 T C 7: 35,154,064 (GRCm39) L229P probably damaging Het
Tenm2 T C 11: 36,755,686 (GRCm39) H104R probably benign Het
Tmem87a A G 2: 120,210,231 (GRCm39) Y241H probably damaging Het
Trpv5 G T 6: 41,651,602 (GRCm39) T192K probably damaging Het
Unc79 T C 12: 103,134,595 (GRCm39) V2189A probably damaging Het
Vmn2r106 A C 17: 20,499,361 (GRCm39) S183R probably benign Het
Vmn2r112 G T 17: 22,837,216 (GRCm39) C559F probably damaging Het
Wdhd1 T C 14: 47,481,324 (GRCm39) D1031G possibly damaging Het
Wnt5b T C 6: 119,410,457 (GRCm39) S328G probably benign Het
Zcchc7 T C 4: 44,926,032 (GRCm39) Y344H 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
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
R8261:Lalba UTSW 15 98,379,992 (GRCm39) missense possibly damaging 0.58
R9391:Lalba UTSW 15 98,380,417 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTGTCACTACAGGGTACAAGG -3'
(R):5'- GCTTTATGCTAGTCACTGACAACC -3'

Sequencing Primer
(F):5'- AGGCTCAGAGGCAGATCATCTTC -3'
(R):5'- GTCACTGACAACCATCATTAAGAGGG -3'
Posted On 2018-05-04