Incidental Mutation 'R4727:B4galt1'
ID 358523
Institutional Source Beutler Lab
Gene Symbol B4galt1
Ensembl Gene ENSMUSG00000028413
Gene Name UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
Synonyms beta-1,4-GalT1, beta 1,4-Galactosyltransferase I, b1,4-Galactosyltransferase I, GalT, Ggtb2, B-1,4-GalT1, Ggtb
MMRRC Submission 041602-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4727 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 40804602-40854005 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40807812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 330 (S330P)
Ref Sequence ENSEMBL: ENSMUSP00000030121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030121] [ENSMUST00000108096]
AlphaFold P15535
Predicted Effect probably damaging
Transcript: ENSMUST00000030121
AA Change: S330P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030121
Gene: ENSMUSG00000028413
AA Change: S330P

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
low complexity region 73 89 N/A INTRINSIC
Pfam:Glyco_transf_7N 131 264 3.1e-62 PFAM
Pfam:Glyco_transf_7C 268 346 5.9e-32 PFAM
Pfam:Glyco_tranf_2_2 279 339 4.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108096
SMART Domains Protein: ENSMUSP00000103731
Gene: ENSMUSG00000028413

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
low complexity region 73 89 N/A INTRINSIC
Pfam:Glyco_transf_7N 131 266 1.8e-52 PFAM
Pfam:Glyco_transf_7C 268 328 8.7e-26 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes two distinct enzyme isoforms, a long membrane-bound form and a short soluble form. These alternate isoforms are thought to be produced through alternative nested transcription initiation and different in-frame start codon usage. These enzymes catalyze the transfer of galactose to acceptor sugars, such as N-acetylglucosamine and glucose. The long form of this enzyme is localized to the trans-Golgi membrane and is involved in glycoconjugate biosynthesis. The short form functions in lactose biosynthesis though formation of a heterodimer with alpha-lactalbumin. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit growth retardation, low viability, excessive epithelial cell proliferation of skin and small intestine, sperm with reduced fertilizing capacity, birthing difficulty, and mammary gland defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,062,489 (GRCm39) N483S probably benign Het
Acoxl T G 2: 127,820,658 (GRCm39) L70R probably damaging Het
Ankrd44 A T 1: 54,706,576 (GRCm39) F627I probably benign Het
Ash2l A T 8: 26,308,623 (GRCm39) I552N probably damaging Het
Bnip3 T C 7: 138,500,435 (GRCm39) S52G probably damaging Het
Btd A G 14: 31,384,278 (GRCm39) Q88R probably benign Het
C4bp A G 1: 130,566,922 (GRCm39) V318A probably benign Het
Cacna1e G A 1: 154,312,214 (GRCm39) Q1530* probably null Het
Calm1 T C 12: 100,166,485 (GRCm39) F23S probably benign Het
Cep290 T G 10: 100,399,132 (GRCm39) I2218R probably benign Het
Ces2c T C 8: 105,574,672 (GRCm39) I43T probably benign Het
Cyp2d9 T C 15: 82,338,602 (GRCm39) L1P probably null Het
Dgki C A 6: 37,276,748 (GRCm39) probably benign Het
Dhh A G 15: 98,796,023 (GRCm39) L44P probably damaging Het
Dnah12 A G 14: 26,594,274 (GRCm39) I3409V probably damaging Het
Dnah7b G A 1: 46,246,816 (GRCm39) R1664H probably damaging Het
Dnah8 T C 17: 31,070,721 (GRCm39) M4469T probably damaging Het
Ehhadh T C 16: 21,581,181 (GRCm39) I604V probably benign Het
Esr1 A G 10: 4,951,418 (GRCm39) I599V probably benign Het
Faf1 G A 4: 109,697,564 (GRCm39) D297N probably damaging Het
Gfra1 A T 19: 58,252,386 (GRCm39) N380K probably damaging Het
Ghitm A G 14: 36,855,700 (GRCm39) C8R probably damaging Het
Ifna4 C A 4: 88,760,519 (GRCm39) T141K probably benign Het
Itsn2 A G 12: 4,757,660 (GRCm39) Y1424C probably damaging Het
Kcnj10 A G 1: 172,197,266 (GRCm39) D260G probably damaging Het
Klf16 T C 10: 80,405,020 (GRCm39) D164G probably damaging Het
Klhdc7b T A 15: 89,271,785 (GRCm39) L889Q probably damaging Het
Lcmt2 C G 2: 120,969,911 (GRCm39) V171L probably benign Het
Lrp11 A G 10: 7,466,348 (GRCm39) E153G probably benign Het
Lrrc43 A T 5: 123,632,366 (GRCm39) T170S probably damaging Het
Lsr T C 7: 30,665,465 (GRCm39) Y163C probably damaging Het
Man1a A T 10: 53,783,668 (GRCm39) probably null Het
Mmp24 C T 2: 155,657,819 (GRCm39) P570S possibly damaging Het
Ms4a3 A G 19: 11,608,742 (GRCm39) M170T probably damaging Het
Naip5 C A 13: 100,358,378 (GRCm39) A953S possibly damaging Het
Nfrkb T C 9: 31,314,919 (GRCm39) S580P probably damaging Het
Or51q1c T G 7: 103,653,097 (GRCm39) V205G probably benign Het
Or8b38 T C 9: 37,973,389 (GRCm39) Y258H probably damaging Het
Padi6 T G 4: 140,458,506 (GRCm39) D462A probably damaging Het
Pde6a A G 18: 61,364,561 (GRCm39) R206G probably benign Het
Plk4 A G 3: 40,759,589 (GRCm39) N162D probably benign Het
Ptpn13 T A 5: 103,717,721 (GRCm39) D1922E probably benign Het
Rangap1 G A 15: 81,613,956 (GRCm39) probably benign Het
Rapgef3 A G 15: 97,658,481 (GRCm39) L175P probably damaging Het
Rps6kb1 G C 11: 86,435,484 (GRCm39) probably null Het
Satb1 T C 17: 52,111,375 (GRCm39) Y161C probably damaging Het
Sel1l3 C A 5: 53,301,525 (GRCm39) probably null Het
Slc17a7 C T 7: 44,822,358 (GRCm39) S398L possibly damaging Het
Slc22a4 T A 11: 53,918,477 (GRCm39) E109V possibly damaging Het
Slc26a7 C T 4: 14,590,477 (GRCm39) A105T probably damaging Het
Slc47a1 T C 11: 61,254,277 (GRCm39) N145S possibly damaging Het
Tank A G 2: 61,483,876 (GRCm39) T441A probably benign Het
Tefm T C 11: 80,031,279 (GRCm39) probably benign Het
Ttbk2 T C 2: 120,575,851 (GRCm39) Y1042C probably benign Het
Wdfy3 T C 5: 102,077,894 (GRCm39) Q892R probably damaging Het
Wdr33 T A 18: 32,021,500 (GRCm39) H683Q unknown Het
Zfp36l2 T A 17: 84,495,089 (GRCm39) I12F probably benign Het
Zfyve26 A T 12: 79,291,170 (GRCm39) M2145K probably benign Het
Other mutations in B4galt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01795:B4galt1 APN 4 40,807,760 (GRCm39) missense probably damaging 1.00
periwinkle UTSW 4 40,807,760 (GRCm39) missense probably damaging 1.00
R1589:B4galt1 UTSW 4 40,823,575 (GRCm39) missense probably benign 0.28
R3797:B4galt1 UTSW 4 40,807,258 (GRCm39) missense probably benign 0.12
R4419:B4galt1 UTSW 4 40,853,537 (GRCm39) missense probably benign
R4703:B4galt1 UTSW 4 40,823,569 (GRCm39) missense probably benign 0.14
R5706:B4galt1 UTSW 4 40,807,268 (GRCm39) missense probably damaging 0.97
R5903:B4galt1 UTSW 4 40,807,760 (GRCm39) missense probably damaging 1.00
R6860:B4galt1 UTSW 4 40,807,796 (GRCm39) missense probably benign 0.00
R6878:B4galt1 UTSW 4 40,809,694 (GRCm39) missense probably damaging 1.00
R6943:B4galt1 UTSW 4 40,812,860 (GRCm39) missense probably benign 0.00
R7239:B4galt1 UTSW 4 40,812,754 (GRCm39) missense probably damaging 1.00
R7479:B4galt1 UTSW 4 40,823,587 (GRCm39) missense probably damaging 1.00
R7792:B4galt1 UTSW 4 40,809,373 (GRCm39) missense probably benign 0.00
R7887:B4galt1 UTSW 4 40,823,501 (GRCm39) missense probably benign 0.08
R7923:B4galt1 UTSW 4 40,809,373 (GRCm39) missense probably benign 0.00
R8330:B4galt1 UTSW 4 40,812,787 (GRCm39) missense probably damaging 1.00
R8968:B4galt1 UTSW 4 40,807,243 (GRCm39) missense probably benign
R9450:B4galt1 UTSW 4 40,853,804 (GRCm39) start codon destroyed probably null 0.98
R9574:B4galt1 UTSW 4 40,853,766 (GRCm39) missense probably benign
R9705:B4galt1 UTSW 4 40,853,474 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGCCTGACTTACAGCCTGTTC -3'
(R):5'- CAATGCAAGGTATTGGGAAGTC -3'

Sequencing Primer
(F):5'- GATAACCGTTCTGACTTCCAAGGG -3'
(R):5'- GCCCATGAATGAGTCCAT -3'
Posted On 2015-11-11