Incidental Mutation 'R4419:B4galt1'
ID 326989
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 041140-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4419 (G1)
Quality Score 135
Status Not validated
Chromosome 4
Chromosomal Location 40804602-40854005 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40853537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 90 (V90A)
Ref Sequence ENSEMBL: ENSMUSP00000103731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030121] [ENSMUST00000108096]
AlphaFold P15535
Predicted Effect probably benign
Transcript: ENSMUST00000030121
AA Change: V90A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030121
Gene: ENSMUSG00000028413
AA Change: V90A

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
AA Change: V90A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103731
Gene: ENSMUSG00000028413
AA Change: V90A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179159
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amdhd2 G A 17: 24,377,652 (GRCm39) P126L probably benign Het
Arfip2 T C 7: 105,288,270 (GRCm39) T44A probably damaging Het
Bad C A 19: 6,928,053 (GRCm39) A115E probably benign Het
Bicc1 A G 10: 70,782,804 (GRCm39) L521P possibly damaging Het
Caskin1 T C 17: 24,723,683 (GRCm39) S824P probably damaging Het
Cblb T A 16: 51,867,621 (GRCm39) D76E possibly damaging Het
Celsr3 G T 9: 108,720,443 (GRCm39) A2572S possibly damaging Het
Csmd3 T C 15: 47,567,707 (GRCm39) Q2152R probably damaging Het
D2hgdh T A 1: 93,757,535 (GRCm39) V150E probably damaging Het
Ddn C A 15: 98,703,492 (GRCm39) W600L probably benign Het
Dicer1 A T 12: 104,671,373 (GRCm39) Y966N probably damaging Het
Dsp T A 13: 38,379,108 (GRCm39) I1352N probably damaging Het
Duox1 G A 2: 122,157,607 (GRCm39) A578T probably benign Het
Dysf T C 6: 84,184,224 (GRCm39) probably null Het
Elmo2 T C 2: 165,153,675 (GRCm39) probably null Het
Heg1 A T 16: 33,547,805 (GRCm39) E864V probably benign Het
Hoxb9 T C 11: 96,162,807 (GRCm39) V147A probably benign Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Ky G A 9: 102,419,909 (GRCm39) V639I probably damaging Het
Med16 G A 10: 79,734,216 (GRCm39) A566V probably benign Het
Mettl17 G T 14: 52,124,729 (GRCm39) G167C possibly damaging Het
Mgat4b T C 11: 50,123,813 (GRCm39) F318L probably damaging Het
Mug2 C A 6: 122,056,589 (GRCm39) A1178D probably damaging Het
Myo3b A G 2: 69,926,706 (GRCm39) D51G probably damaging Het
Naip2 T C 13: 100,297,133 (GRCm39) N968D probably benign Het
Nbea T C 3: 55,917,021 (GRCm39) H820R probably damaging Het
Nqo1 C T 8: 108,118,749 (GRCm39) probably null Het
Or10ak7 A T 4: 118,791,586 (GRCm39) I153N possibly damaging Het
Or6c68 T C 10: 129,157,684 (GRCm39) F64S possibly damaging Het
Or8b51 C T 9: 38,569,365 (GRCm39) V108I probably benign Het
Ppargc1a T C 5: 51,652,044 (GRCm39) D218G probably damaging Het
Rras A G 7: 44,670,003 (GRCm39) D145G probably damaging Het
Scn3a C A 2: 65,297,304 (GRCm39) G1452C probably damaging Het
Slc22a2 C A 17: 12,831,473 (GRCm39) S421* probably null Het
Slc39a10 A G 1: 46,849,226 (GRCm39) F797L probably benign Het
Spta1 T A 1: 174,074,990 (GRCm39) Y2405* probably null Het
Ss18 A G 18: 14,766,662 (GRCm39) Y359H unknown Het
St14 C T 9: 31,008,224 (GRCm39) C537Y probably damaging Het
Tmem252 T A 19: 24,654,910 (GRCm39) Y96N probably damaging Het
Trafd1 T C 5: 121,511,396 (GRCm39) D474G probably benign Het
Trmt1l A G 1: 151,316,559 (GRCm39) I20M probably damaging Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn1r43 A G 6: 89,846,629 (GRCm39) S286P 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
R4703:B4galt1 UTSW 4 40,823,569 (GRCm39) missense probably benign 0.14
R4727:B4galt1 UTSW 4 40,807,812 (GRCm39) missense probably damaging 1.00
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'- AAATCCGAGGAGTCCACGTC -3'
(R):5'- AGGTTTCGTGAGCAGTTCC -3'

Sequencing Primer
(F):5'- AGGAGTCCACGTCCTCAGATC -3'
(R):5'- TCGTGAGCAGTTCCTGGGC -3'
Posted On 2015-07-07