Incidental Mutation 'R8165:Mgat4b'
ID 633735
Institutional Source Beutler Lab
Gene Symbol Mgat4b
Ensembl Gene ENSMUSG00000036620
Gene Name mannoside acetylglucosaminyltransferase 4, isoenzyme B
Synonyms
MMRRC Submission 067591-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8165 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 50116162-50125930 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50101801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 22 (N22I)
Ref Sequence ENSEMBL: ENSMUSP00000119786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015981] [ENSMUST00000102774] [ENSMUST00000143379] [ENSMUST00000147468]
AlphaFold Q812F8
Predicted Effect probably benign
Transcript: ENSMUST00000015981
SMART Domains Protein: ENSMUSP00000015981
Gene: ENSMUSG00000015837

DomainStartEndE-ValueType
PB1 3 102 1.96e-14 SMART
ZnF_ZZ 122 165 8.62e-19 SMART
low complexity region 269 281 N/A INTRINSIC
UBA 358 397 9.33e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102774
SMART Domains Protein: ENSMUSP00000099835
Gene: ENSMUSG00000015837

DomainStartEndE-ValueType
PB1 3 102 1.96e-14 SMART
ZnF_ZZ 122 165 8.62e-19 SMART
low complexity region 269 281 N/A INTRINSIC
UBA 396 435 9.33e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143379
SMART Domains Protein: ENSMUSP00000118662
Gene: ENSMUSG00000015837

DomainStartEndE-ValueType
PB1 3 102 1.96e-14 SMART
ZnF_ZZ 122 165 8.62e-19 SMART
low complexity region 269 281 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147468
AA Change: N22I

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a floxed targeted allele are viable and do not display any gross physical or behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C A 5: 64,055,289 (GRCm39) probably null Het
Amph A G 13: 19,279,007 (GRCm39) K161E probably benign Het
Aox1 A T 1: 58,348,088 (GRCm39) H602L probably benign Het
Areg A G 5: 91,291,492 (GRCm39) N145S probably damaging Het
Arhgap29 C T 3: 121,782,222 (GRCm39) T142I probably damaging Het
Bcar3 C T 3: 122,304,805 (GRCm39) probably benign Het
Brpf3 C T 17: 29,025,248 (GRCm39) A107V probably benign Het
Btnl2 T A 17: 34,587,682 (GRCm39) S509T possibly damaging Het
Cacna2d2 A G 9: 107,402,653 (GRCm39) probably null Het
Casz1 C T 4: 149,028,888 (GRCm39) P1111L probably damaging Het
Ccdc91 C T 6: 147,533,086 (GRCm39) T411I unknown Het
Chd9 A C 8: 91,767,769 (GRCm39) E2422A probably damaging Het
Clrn3 T C 7: 135,130,133 (GRCm39) I34V probably benign Het
Cnksr3 C T 10: 7,104,467 (GRCm39) D79N probably damaging Het
Cops8 A G 1: 90,539,729 (GRCm39) probably null Het
Cpa2 A G 6: 30,564,345 (GRCm39) K392R probably benign Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Dnase1l3 T C 14: 7,994,299 (GRCm38) probably benign Het
Gdpd5 A T 7: 99,105,689 (GRCm39) T502S probably benign Het
Gp2 A T 7: 119,049,375 (GRCm39) D387E probably damaging Het
Gpr179 A G 11: 97,242,364 (GRCm39) L160P probably benign Het
Hmcn1 G A 1: 150,522,409 (GRCm39) T3497M probably benign Het
Idh3b T A 2: 130,122,420 (GRCm39) T322S possibly damaging Het
Kit A T 5: 75,781,540 (GRCm39) N323I possibly damaging Het
Kng2 T C 16: 22,806,246 (GRCm39) S445G unknown Het
Lin54 A G 5: 100,602,358 (GRCm39) V393A probably benign Het
Lyst T A 13: 13,872,945 (GRCm39) W2715R probably damaging Het
Mad1l1 T C 5: 140,300,813 (GRCm39) T28A probably benign Het
Med7 T A 11: 46,332,073 (GRCm39) C223S probably benign Het
Megf8 T A 7: 25,053,298 (GRCm39) L1823Q probably damaging Het
Mga C A 2: 119,777,719 (GRCm39) Q1755K probably benign Het
Ndufb6 C T 4: 40,270,665 (GRCm39) probably null Het
Neil3 A G 8: 54,042,129 (GRCm39) L490P probably benign Het
Nek9 C T 12: 85,350,417 (GRCm39) V886I probably benign Het
Nol4l A T 2: 153,262,473 (GRCm39) Y366* probably null Het
Nt5dc2 A G 14: 30,860,886 (GRCm39) T354A probably damaging Het
Or1j11 T A 2: 36,311,715 (GRCm39) Y102N probably damaging Het
Pde2a G A 7: 101,149,655 (GRCm39) probably null Het
Phf1 T C 17: 27,156,044 (GRCm39) F444L possibly damaging Het
Plin4 G A 17: 56,414,019 (GRCm39) T202I possibly damaging Het
Plk4 G C 3: 40,768,009 (GRCm39) V851L probably damaging Het
Pp2d1 A G 17: 53,822,257 (GRCm39) S270P probably damaging Het
Ripor1 C A 8: 106,347,520 (GRCm39) L1028M unknown Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Sel1l2 T A 2: 140,104,626 (GRCm39) L306F probably damaging Het
Spic A T 10: 88,513,428 (GRCm39) S86T probably damaging Het
Spmip10 T A 18: 56,722,547 (GRCm39) probably benign Het
Stkld1 A G 2: 26,836,668 (GRCm39) N278S probably benign Het
Taar7d T A 10: 23,903,495 (GRCm39) F126I probably benign Het
Tbc1d31 A G 15: 57,824,345 (GRCm39) E869G possibly damaging Het
Tbcd C T 11: 121,384,711 (GRCm39) T315M probably benign Het
Terf2 T C 8: 107,809,656 (GRCm39) K221E possibly damaging Het
Thsd7a T A 6: 12,468,962 (GRCm39) T539S Het
Tll2 A G 19: 41,077,313 (GRCm39) F818L possibly damaging Het
Tmem87a T C 2: 120,200,959 (GRCm39) T427A possibly damaging Het
Ush2a C A 1: 188,183,952 (GRCm39) Q1419K possibly damaging Het
Vill T A 9: 118,895,821 (GRCm39) F511Y probably damaging Het
Virma T A 4: 11,542,128 (GRCm39) D1521E probably benign Het
Vps13c A G 9: 67,766,072 (GRCm39) D63G probably benign Het
Vrk2 A G 11: 26,485,575 (GRCm39) F138L probably benign Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Zgrf1 T A 3: 127,357,032 (GRCm39) F753I possibly damaging Het
Other mutations in Mgat4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01628:Mgat4b APN 11 50,124,136 (GRCm39) missense probably benign 0.01
IGL01980:Mgat4b APN 11 50,121,540 (GRCm39) missense probably damaging 1.00
IGL02533:Mgat4b APN 11 50,124,379 (GRCm39) missense probably damaging 0.99
IGL02729:Mgat4b APN 11 50,124,136 (GRCm39) missense probably benign 0.01
IGL02888:Mgat4b APN 11 50,123,159 (GRCm39) missense probably damaging 1.00
IGL03369:Mgat4b APN 11 50,124,936 (GRCm39) missense possibly damaging 0.79
R0085:Mgat4b UTSW 11 50,121,826 (GRCm39) missense possibly damaging 0.87
R0136:Mgat4b UTSW 11 50,121,908 (GRCm39) missense possibly damaging 0.91
R0394:Mgat4b UTSW 11 50,121,746 (GRCm39) splice site probably null
R0631:Mgat4b UTSW 11 50,121,590 (GRCm39) missense probably damaging 1.00
R0657:Mgat4b UTSW 11 50,121,908 (GRCm39) missense possibly damaging 0.91
R3932:Mgat4b UTSW 11 50,124,165 (GRCm39) missense possibly damaging 0.70
R4419:Mgat4b UTSW 11 50,123,813 (GRCm39) missense probably damaging 0.99
R4816:Mgat4b UTSW 11 50,101,848 (GRCm39) missense probably benign 0.01
R6315:Mgat4b UTSW 11 50,122,591 (GRCm39) missense probably damaging 1.00
R6677:Mgat4b UTSW 11 50,123,898 (GRCm39) splice site probably null
R6786:Mgat4b UTSW 11 50,121,525 (GRCm39) missense probably damaging 1.00
R7053:Mgat4b UTSW 11 50,124,367 (GRCm39) missense probably damaging 1.00
R7798:Mgat4b UTSW 11 50,116,497 (GRCm39) missense possibly damaging 0.91
R8042:Mgat4b UTSW 11 50,123,203 (GRCm39) nonsense probably null
R8428:Mgat4b UTSW 11 50,121,512 (GRCm39) missense probably benign 0.01
R8859:Mgat4b UTSW 11 50,121,674 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- ATAACCGCGGTCTAGGTACG -3'
(R):5'- GCTACCTGACAGTAGACATCTGTG -3'

Sequencing Primer
(F):5'- TCTAGGTACGGACGAAACAGCTG -3'
(R):5'- GTGTCCTCCTAGCTTCTGGG -3'
Posted On 2020-07-13