Incidental Mutation 'R0269:Mgat4a'
ID 35121
Institutional Source Beutler Lab
Gene Symbol Mgat4a
Ensembl Gene ENSMUSG00000026110
Gene Name mannoside acetylglucosaminyltransferase 4, isoenzyme A
Synonyms 9530018I07Rik, GnT-IVa
MMRRC Submission 038495-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R0269 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 37478421-37580097 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37529388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 164 (Y164H)
Ref Sequence ENSEMBL: ENSMUSP00000114175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042161] [ENSMUST00000143636] [ENSMUST00000148047] [ENSMUST00000149791] [ENSMUST00000151952] [ENSMUST00000154819]
AlphaFold Q812G0
Predicted Effect possibly damaging
Transcript: ENSMUST00000042161
AA Change: Y164H

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038894
Gene: ENSMUSG00000026110
AA Change: Y164H

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
coiled coil region 28 63 N/A INTRINSIC
Pfam:Glyco_transf_54 75 380 5.8e-137 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000143636
AA Change: Y26H

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122909
Gene: ENSMUSG00000026110
AA Change: Y26H

DomainStartEndE-ValueType
Pfam:Glyco_transf_54 1 242 1.2e-123 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000148047
AA Change: Y26H

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118692
Gene: ENSMUSG00000026110
AA Change: Y26H

DomainStartEndE-ValueType
Pfam:Glyco_transf_54 1 112 5e-54 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000149791
AA Change: Y26H

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115778
Gene: ENSMUSG00000026110
AA Change: Y26H

DomainStartEndE-ValueType
Pfam:Glyco_transf_54 1 62 2.9e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151866
Predicted Effect possibly damaging
Transcript: ENSMUST00000151952
AA Change: Y164H

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114175
Gene: ENSMUSG00000026110
AA Change: Y164H

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
coiled coil region 28 63 N/A INTRINSIC
Pfam:Glyco_transf_54 86 380 7.5e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154819
AA Change: Y155H

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000121181
Gene: ENSMUSG00000026110
AA Change: Y155H

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
coiled coil region 28 63 N/A INTRINSIC
Pfam:Glyco_transf_54 71 371 4.8e-137 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192316
Meta Mutation Damage Score 0.1356 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.8%
  • 10x: 96.1%
  • 20x: 93.6%
Validation Efficiency 100% (59/59)
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 B, 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 knock-out allele show defects in glucose-stimulated insulin secretion, impaired cellular glucose import, increased susceptibility to weight gain, hyperglycemia, impaired glucose tolerance, insulin resistance, high free fatty acid and triglyceride levels, and hepatic steatosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C T 15: 84,838,201 (GRCm39) V231I possibly damaging Het
Abca1 T C 4: 53,044,228 (GRCm39) D1798G probably benign Het
Adcy2 T A 13: 68,826,725 (GRCm39) K660* probably null Het
Alk G T 17: 72,910,578 (GRCm39) P43T probably damaging Het
Amhr2 T C 15: 102,355,503 (GRCm39) C189R probably benign Het
Arrb1 T C 7: 99,243,884 (GRCm39) L278P probably damaging Het
AW551984 T C 9: 39,511,246 (GRCm39) Y153C probably damaging Het
Bpifb1 A G 2: 154,054,867 (GRCm39) D253G possibly damaging Het
Bpifb9b C T 2: 154,161,545 (GRCm39) T559M probably benign Het
Cd46 T G 1: 194,746,996 (GRCm39) I339L probably benign Het
Cdkn2aip A G 8: 48,165,012 (GRCm39) S234P probably damaging Het
Chil3 T C 3: 106,063,072 (GRCm39) K173E probably benign Het
Csf2rb2 G T 15: 78,173,065 (GRCm39) T265N probably benign Het
Cyp2c40 A G 19: 39,762,340 (GRCm39) F436L probably damaging Het
D130040H23Rik T C 8: 69,753,446 (GRCm39) F24S probably benign Het
Defb12 G T 8: 19,164,375 (GRCm39) A34E probably damaging Het
Fam234a A T 17: 26,435,591 (GRCm39) D264E probably benign Het
Fbxl17 A C 17: 63,691,987 (GRCm39) F42V probably damaging Het
Gldc T A 19: 30,096,002 (GRCm39) I670F probably damaging Het
Guf1 A C 5: 69,716,942 (GRCm39) Q168P probably damaging Het
Hcn2 A G 10: 79,570,075 (GRCm39) probably benign Het
Hddc2 A G 10: 31,203,942 (GRCm39) M190V probably benign Het
Kcnq2 T C 2: 180,738,767 (GRCm39) E294G probably benign Het
Kdelr1 T A 7: 45,523,463 (GRCm39) probably benign Het
Kidins220 T A 12: 25,090,511 (GRCm39) H1158Q probably damaging Het
Laptm5 A T 4: 130,658,127 (GRCm39) N185Y probably benign Het
Mlh3 C A 12: 85,315,179 (GRCm39) V336L probably benign Het
Myadm A G 7: 3,345,273 (GRCm39) T12A unknown Het
Nol8 T C 13: 49,807,921 (GRCm39) F46L possibly damaging Het
Ntrk1 T C 3: 87,691,240 (GRCm39) D308G possibly damaging Het
Oog3 A T 4: 143,886,784 (GRCm39) V112D probably benign Het
Or4a66 A G 2: 88,531,040 (GRCm39) V211A probably damaging Het
Or5af2 T C 11: 58,707,975 (GRCm39) V47A probably damaging Het
Or5m9b A G 2: 85,905,485 (GRCm39) M134V probably benign Het
Or8g34 T C 9: 39,373,090 (GRCm39) M118T probably damaging Het
Or9s18 A T 13: 65,300,692 (GRCm39) Y218F possibly damaging Het
Pramel14 A G 4: 143,720,088 (GRCm39) probably benign Het
Prss39 A T 1: 34,539,279 (GRCm39) H173L probably damaging Het
Rabl6 A G 2: 25,476,878 (GRCm39) probably null Het
Recql5 T C 11: 115,819,050 (GRCm39) D172G possibly damaging Het
Reln T C 5: 22,125,535 (GRCm39) D2716G probably damaging Het
Rgs7 A G 1: 175,098,386 (GRCm39) S58P possibly damaging Het
Sema6d T A 2: 124,502,665 (GRCm39) F583L possibly damaging Het
Sgsm1 T C 5: 113,434,795 (GRCm39) probably null Het
Slc22a19 A T 19: 7,686,986 (GRCm39) probably benign Het
Slc6a21 T A 7: 44,936,332 (GRCm39) Y428* probably null Het
Smarca4 T G 9: 21,547,497 (GRCm39) M260R probably benign Het
Smg6 C A 11: 75,053,757 (GRCm39) T1413K probably benign Het
Spata17 T C 1: 186,830,069 (GRCm39) I322V probably benign Het
Stxbp1 A C 2: 32,692,795 (GRCm39) I407S probably damaging Het
Sult1d1 A T 5: 87,712,661 (GRCm39) I61N probably damaging Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tm4sf5 T A 11: 70,401,495 (GRCm39) S165T probably damaging Het
Tmx2 T C 2: 84,502,740 (GRCm39) D256G probably benign Het
Trmt11 T A 10: 30,463,485 (GRCm39) H210L probably benign Het
Tut7 A T 13: 59,964,669 (GRCm39) probably null Het
Ush2a T A 1: 188,542,373 (GRCm39) M3313K probably benign Het
Zfp955b A T 17: 33,524,437 (GRCm39) S43R probably damaging Het
Other mutations in Mgat4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Mgat4a APN 1 37,488,204 (GRCm39) nonsense probably null
IGL01720:Mgat4a APN 1 37,483,979 (GRCm39) missense probably damaging 1.00
IGL02103:Mgat4a APN 1 37,502,007 (GRCm39) missense possibly damaging 0.94
IGL03177:Mgat4a APN 1 37,483,968 (GRCm39) missense probably damaging 1.00
Arboreal UTSW 1 37,529,360 (GRCm39) missense probably damaging 0.97
Glider UTSW 1 37,495,673 (GRCm39) missense probably damaging 1.00
R0090:Mgat4a UTSW 1 37,529,414 (GRCm39) missense probably damaging 1.00
R0635:Mgat4a UTSW 1 37,491,375 (GRCm39) missense probably benign 0.11
R1114:Mgat4a UTSW 1 37,503,487 (GRCm39) splice site probably benign
R1120:Mgat4a UTSW 1 37,491,662 (GRCm39) missense probably damaging 1.00
R1466:Mgat4a UTSW 1 37,503,487 (GRCm39) splice site probably benign
R1940:Mgat4a UTSW 1 37,575,118 (GRCm39) critical splice donor site probably null
R2257:Mgat4a UTSW 1 37,529,394 (GRCm39) missense probably benign 0.13
R2293:Mgat4a UTSW 1 37,491,673 (GRCm39) missense probably damaging 0.99
R2370:Mgat4a UTSW 1 37,503,614 (GRCm39) missense probably damaging 0.96
R2392:Mgat4a UTSW 1 37,537,785 (GRCm39) missense probably damaging 1.00
R3952:Mgat4a UTSW 1 37,489,495 (GRCm39) splice site probably benign
R4563:Mgat4a UTSW 1 37,505,660 (GRCm39) missense probably damaging 1.00
R5424:Mgat4a UTSW 1 37,505,636 (GRCm39) missense probably benign 0.01
R5494:Mgat4a UTSW 1 37,493,898 (GRCm39) missense probably damaging 1.00
R5505:Mgat4a UTSW 1 37,535,035 (GRCm39) missense probably benign 0.04
R5938:Mgat4a UTSW 1 37,491,344 (GRCm39) missense probably damaging 0.99
R6237:Mgat4a UTSW 1 37,495,673 (GRCm39) missense probably damaging 1.00
R6589:Mgat4a UTSW 1 37,483,976 (GRCm39) missense probably damaging 0.99
R6817:Mgat4a UTSW 1 37,488,204 (GRCm39) nonsense probably null
R6825:Mgat4a UTSW 1 37,503,515 (GRCm39) nonsense probably null
R7402:Mgat4a UTSW 1 37,493,865 (GRCm39) missense probably damaging 1.00
R7507:Mgat4a UTSW 1 37,491,608 (GRCm39) missense probably damaging 1.00
R7789:Mgat4a UTSW 1 37,529,360 (GRCm39) missense probably damaging 0.97
R8835:Mgat4a UTSW 1 37,491,372 (GRCm39) missense possibly damaging 0.91
R9400:Mgat4a UTSW 1 37,502,025 (GRCm39) missense probably damaging 1.00
R9424:Mgat4a UTSW 1 37,529,436 (GRCm39) missense probably damaging 1.00
X0063:Mgat4a UTSW 1 37,501,971 (GRCm39) critical splice donor site probably null
Z1177:Mgat4a UTSW 1 37,529,453 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGGTTCTGCCCTAAGTTCCATGC -3'
(R):5'- ACCATGTTTGCACACACCCCTG -3'

Sequencing Primer
(F):5'- aagccccgcattgctac -3'
(R):5'- TGGCCTTGACACATGGGAAG -3'
Posted On 2013-05-09