Incidental Mutation 'IGL02084:Mgat4d'
ID283448
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgat4d
Ensembl Gene ENSMUSG00000035057
Gene NameMGAT4 family, member C
Synonyms4933434I20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02084
Quality Score
Status
Chromosome8
Chromosomal Location83348471-83382320 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 83368981 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 295 (S295L)
Ref Sequence ENSEMBL: ENSMUSP00000041629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038692]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038692
AA Change: S295L

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041629
Gene: ENSMUSG00000035057
AA Change: S295L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_54 70 373 5.9e-120 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139692
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,130,597 F1096L probably benign Het
Abcd2 T A 15: 91,178,327 probably null Het
Actr10 T C 12: 70,954,649 I210T probably damaging Het
Apoa5 A T 9: 46,270,652 D342V probably damaging Het
Bicra G A 7: 15,987,738 T618I probably benign Het
Birc6 C A 17: 74,608,282 Q1642K probably benign Het
C130060K24Rik T C 6: 65,381,610 V106A probably benign Het
Cenpn A G 8: 116,940,895 Y331C probably damaging Het
Clcn7 T A 17: 25,157,925 I624N probably benign Het
Eddm3b A T 14: 51,116,630 H25L unknown Het
Fam90a1a A G 8: 21,959,297 E19G probably benign Het
Fbxo18 T C 2: 11,764,127 D285G probably benign Het
Fbxo41 A T 6: 85,480,765 probably null Het
Frem3 A G 8: 80,612,443 D455G possibly damaging Het
Gart T C 16: 91,621,600 Q86R probably benign Het
Gm45234 T C 6: 124,747,695 probably benign Het
Gm5431 C T 11: 48,889,085 D337N probably benign Het
Gm6882 T A 7: 21,427,587 I119F probably damaging Het
Kcns3 C T 12: 11,092,194 R168Q probably damaging Het
Klra17 T A 6: 129,831,593 N226Y probably damaging Het
Macf1 T C 4: 123,459,374 D1504G probably damaging Het
Macf1 T C 4: 123,432,603 N2915D probably benign Het
Mslnl T C 17: 25,746,151 V497A probably benign Het
Mtor T C 4: 148,470,680 S920P probably damaging Het
Mynn C A 3: 30,611,615 H465Q probably damaging Het
Myo16 A G 8: 10,361,088 E182G probably damaging Het
Ncln T C 10: 81,488,596 I417V probably benign Het
Nlrp4f A T 13: 65,194,171 C553* probably null Het
Olfr1084 T A 2: 86,639,636 Q24L possibly damaging Het
Olfr177 G A 16: 58,873,036 T38I probably damaging Het
Pkhd1 T C 1: 20,377,399 I2257V probably damaging Het
Ppp4r4 T A 12: 103,600,398 S35T possibly damaging Het
Rnf213 T C 11: 119,445,673 V3291A probably benign Het
Runx2 C T 17: 44,724,829 A173T probably damaging Het
Ryr2 A T 13: 11,792,762 Y833* probably null Het
Setbp1 G A 18: 78,857,410 A1014V probably damaging Het
Slc25a38 A G 9: 120,120,446 probably benign Het
Stk4 A G 2: 164,086,607 T120A probably benign Het
Taf3 A T 2: 10,042,519 V106D probably benign Het
Uchl5 A G 1: 143,802,174 I139V possibly damaging Het
Ung A G 5: 114,130,576 E25G probably benign Het
Wrn A G 8: 33,285,179 V619A probably benign Het
Other mutations in Mgat4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00542:Mgat4d APN 8 83354796 missense probably benign 0.21
IGL01634:Mgat4d APN 8 83368116 missense possibly damaging 0.71
IGL01987:Mgat4d APN 8 83368102 missense probably damaging 1.00
R0546:Mgat4d UTSW 8 83355721 missense possibly damaging 0.94
R1322:Mgat4d UTSW 8 83365725 missense possibly damaging 0.74
R1526:Mgat4d UTSW 8 83369037 missense probably benign 0.25
R1617:Mgat4d UTSW 8 83365711 missense probably damaging 1.00
R2223:Mgat4d UTSW 8 83355672 splice site probably benign
R3157:Mgat4d UTSW 8 83354821 missense probably benign
R3421:Mgat4d UTSW 8 83358143 missense probably damaging 1.00
R3422:Mgat4d UTSW 8 83358143 missense probably damaging 1.00
R4387:Mgat4d UTSW 8 83371706 missense probably damaging 1.00
R4796:Mgat4d UTSW 8 83358120 missense probably damaging 1.00
R4805:Mgat4d UTSW 8 83358158 splice site probably null
R5054:Mgat4d UTSW 8 83368208 splice site probably null
R6366:Mgat4d UTSW 8 83368951 splice site probably null
R6927:Mgat4d UTSW 8 83354867 missense probably benign 0.03
R7053:Mgat4d UTSW 8 83371632 missense probably damaging 0.98
R7554:Mgat4d UTSW 8 83355773 missense probably benign 0.00
R7566:Mgat4d UTSW 8 83358023 missense probably damaging 1.00
R8111:Mgat4d UTSW 8 83368147 missense probably damaging 0.96
Z1176:Mgat4d UTSW 8 83348521 missense probably benign 0.04
Z1176:Mgat4d UTSW 8 83368112 missense probably benign 0.39
Posted On2015-04-16