Incidental Mutation 'IGL02999:Mgat4e'
ID 407230
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: 0.101) question?
Stock # IGL02999
Quality Score
Status
Chromosome 1
Chromosomal Location 134540941-134549682 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 134541190 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 372 (L372R)
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: L372R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125929
Gene: ENSMUSG00000046367
AA Change: L372R

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: L372R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133717
Gene: ENSMUSG00000046367
AA Change: L372R

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
2610008E11Rik T A 10: 79,067,590 R297S possibly damaging Het
Abca13 G A 11: 9,581,757 probably benign Het
Acot12 T A 13: 91,759,981 V94D probably damaging Het
Adgrv1 C T 13: 81,578,854 A460T probably benign Het
Atp8a2 C A 14: 59,925,122 E717* probably null Het
Brinp3 A T 1: 146,701,849 probably null Het
Camk1d C A 2: 5,354,705 V177L probably benign Het
Chst11 A G 10: 83,191,704 I322V possibly damaging Het
Cobl T C 11: 12,343,869 T296A possibly damaging Het
Dcc A C 18: 71,378,678 F869V possibly damaging Het
Dock2 G T 11: 34,692,259 T609K probably damaging Het
Ercc5 A G 1: 44,167,654 T576A probably benign Het
Faf1 A G 4: 109,861,893 I399V probably benign Het
Fndc3b T G 3: 27,538,239 E170A probably damaging Het
Ggt7 C A 2: 155,502,713 V237L probably benign Het
Gm14085 T C 2: 122,514,514 probably benign Het
Hectd1 G T 12: 51,827,422 Q24K possibly damaging Het
Krt19 T C 11: 100,141,409 probably benign Het
Lilrb4a T C 10: 51,494,143 L259P probably damaging Het
Limd1 T C 9: 123,516,799 Y548H probably damaging Het
Lingo2 A G 4: 35,708,744 I412T probably damaging Het
Lrrc34 T A 3: 30,634,633 Q173L probably damaging Het
Lrrn3 A T 12: 41,452,751 N522K probably benign Het
Nedd4l A G 18: 65,198,707 D638G probably damaging Het
Olfm3 T C 3: 115,122,748 M423T probably damaging Het
Olfr969 T C 9: 39,795,456 L27P probably damaging Het
Pcsk7 T A 9: 45,927,599 I603N possibly damaging Het
Ptpn2 A G 18: 67,681,510 V143A probably damaging Het
Rabgap1 C A 2: 37,483,826 D283E possibly damaging Het
Reln G A 5: 21,995,365 S1379F probably damaging Het
Rpap2 T A 5: 107,601,831 F74I possibly damaging Het
Sel1l2 T C 2: 140,230,804 E637G probably damaging Het
St18 T A 1: 6,817,605 V466E probably benign Het
Stac C A 9: 111,604,130 G207C probably damaging Het
Stra6 T A 9: 58,135,113 N8K probably benign Het
Sytl4 C T X: 133,937,978 R649Q probably benign Het
Tas1r3 A G 4: 155,862,359 V263A probably damaging Het
Tprg T C 16: 25,317,468 Y70H probably damaging Het
Other mutations in Mgat4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01314:Mgat4e APN 1 134541449 missense probably damaging 1.00
IGL02863:Mgat4e APN 1 134541158 missense probably benign
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 2016-08-02