Incidental Mutation 'IGL01314:Mgat4e'
ID 73778
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgat4e
Ensembl Gene ENSMUSG00000046367
Gene Name MGAT4 family, member E
Synonyms 4931440L10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock # IGL01314
Quality Score
Status
Chromosome 1
Chromosomal Location 134540941-134549682 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134541449 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 286 (T286A)
Ref Sequence ENSEMBL: ENSMUSP00000133717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052911] [ENSMUST00000172898] [ENSMUST00000185836]
AlphaFold A6H684
Predicted Effect probably damaging
Transcript: ENSMUST00000052911
AA Change: T286A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125929
Gene: ENSMUSG00000046367
AA Change: T286A

DomainStartEndE-ValueType
Pfam:Glyco_transf_54 35 266 5e-61 PFAM
low complexity region 425 438 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172898
AA Change: T286A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133717
Gene: ENSMUSG00000046367
AA Change: T286A

DomainStartEndE-ValueType
Pfam:Glyco_transf_54 33 268 5.9e-61 PFAM
low complexity region 425 438 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185836
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430F08Rik A C 10: 100,573,611 D313E probably damaging Het
Adamts12 C T 15: 11,071,853 A161V probably benign Het
Bptf A T 11: 107,054,853 V2520E probably damaging Het
C87436 T C 6: 86,457,855 F395S probably damaging Het
Capn1 T C 19: 5,989,984 probably benign Het
Ceacam5 T A 7: 17,747,256 Y309* probably null Het
Clasp2 A G 9: 113,906,127 D1011G possibly damaging Het
Csmd3 A G 15: 47,849,755 Y1608H probably damaging Het
Dcaf1 T C 9: 106,834,191 I77T probably benign Het
Dcdc2a T C 13: 25,102,604 L170P probably damaging Het
Ddx28 A G 8: 106,010,580 F282S probably damaging Het
Egf A G 3: 129,686,260 I497T probably benign Het
Emsy A G 7: 98,593,455 V1159A probably benign Het
Fam46c T C 3: 100,473,174 K89E probably benign Het
Hk3 C A 13: 55,007,063 probably benign Het
Htt A G 5: 34,878,856 D2049G probably benign Het
Inpp5d C A 1: 87,683,750 S45* probably null Het
Irf8 A G 8: 120,753,380 Y119C probably damaging Het
Klk1b4 T C 7: 44,211,176 probably null Het
Macf1 A G 4: 123,486,720 S1273P probably damaging Het
Man2c1 A T 9: 57,141,819 H867L probably benign Het
Mug2 T C 6: 122,081,279 F1267L possibly damaging Het
Necab1 T A 4: 15,005,079 E128D probably damaging Het
Olfr1331 G A 4: 118,869,131 V117I probably benign Het
Pds5a A G 5: 65,615,294 V1322A probably benign Het
Poc1b C T 10: 99,129,641 T144I probably damaging Het
Prcc T A 3: 87,870,080 N196Y probably damaging Het
Psma5 G A 3: 108,279,795 V237M possibly damaging Het
Rap1gds1 A G 3: 139,050,561 L11P probably damaging Het
Rapgef3 A G 15: 97,748,223 F132S probably damaging Het
Rgs13 T G 1: 144,171,441 D14A probably benign Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tcerg1 C A 18: 42,573,309 A1017D probably damaging Het
Tmem79 T C 3: 88,332,576 I276V possibly damaging Het
Tmem94 C A 11: 115,790,009 H113N probably damaging Het
Vil1 G A 1: 74,428,238 D715N probably damaging Het
Vmn2r96 A G 17: 18,582,964 T187A probably benign Het
Zfhx4 T A 3: 5,413,094 S3590T probably damaging Het
Other mutations in Mgat4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02863:Mgat4e APN 1 134541158 missense probably benign
IGL02999:Mgat4e APN 1 134541190 missense probably damaging 1.00
FR4449:Mgat4e UTSW 1 134540997 utr 3 prime probably benign
PIT4480001:Mgat4e UTSW 1 134541365 missense possibly damaging 0.57
R0226:Mgat4e UTSW 1 134541103 missense probably benign
R1396:Mgat4e UTSW 1 134541533 missense probably benign 0.18
R1626:Mgat4e UTSW 1 134541278 missense probably benign 0.08
R2020:Mgat4e UTSW 1 134541322 missense probably damaging 1.00
R3011:Mgat4e UTSW 1 134542108 missense possibly damaging 0.77
R4748:Mgat4e UTSW 1 134542028 missense probably damaging 1.00
R4784:Mgat4e UTSW 1 134541325 missense probably damaging 0.98
R4859:Mgat4e UTSW 1 134541740 missense possibly damaging 0.84
R4894:Mgat4e UTSW 1 134541118 missense probably benign 0.23
R4910:Mgat4e UTSW 1 134541864 missense probably damaging 1.00
R5007:Mgat4e UTSW 1 134541152 missense probably benign 0.39
R5108:Mgat4e UTSW 1 134541223 missense probably benign 0.03
R5691:Mgat4e UTSW 1 134540991 utr 3 prime probably benign
R5994:Mgat4e UTSW 1 134541496 missense probably benign 0.05
R6467:Mgat4e UTSW 1 134541206 missense probably benign 0.01
R7155:Mgat4e UTSW 1 134541959 missense probably damaging 0.98
R7612:Mgat4e UTSW 1 134542007 missense probably damaging 1.00
R9046:Mgat4e UTSW 1 134547004 missense possibly damaging 0.53
Posted On 2013-10-07