Incidental Mutation 'R7612:Mgat4e'
ID 588646
Institutional Source Beutler Lab
Gene Symbol Mgat4e
Ensembl Gene ENSMUSG00000046367
Gene Name MGAT4 family, member E
Synonyms 4931440L10Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock # R7612 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 134540941-134549682 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134542007 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 100 (T100A)
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: T100A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125929
Gene: ENSMUSG00000046367
AA Change: T100A

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: T100A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133717
Gene: ENSMUSG00000046367
AA Change: T100A

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
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A T 16: 88,773,608 Y181* probably null Het
Adgrf2 T G 17: 42,714,380 K71T possibly damaging Het
Brca2 T A 5: 150,540,611 M1280K probably benign Het
Card14 T C 11: 119,333,579 S541P possibly damaging Het
Ccdc144b A T 3: 36,025,357 S261R possibly damaging Het
Cd19 G T 7: 126,414,324 Q98K possibly damaging Het
Ceacam5 T A 7: 17,759,416 I788N possibly damaging Het
Cpne2 A T 8: 94,557,420 I290L probably benign Het
Cpsf1 C T 15: 76,597,009 V1216I probably benign Het
Csad G A 15: 102,188,922 probably benign Het
Depdc7 T A 2: 104,730,508 Q47L probably benign Het
Dnajc6 T A 4: 101,597,926 S105T probably benign Het
Dsg4 C A 18: 20,470,990 P838Q probably damaging Het
Efcab3 T A 11: 105,108,821 Y179N possibly damaging Het
Egfr A T 11: 16,859,025 N73I possibly damaging Het
Eya2 T C 2: 165,687,737 probably null Het
Fubp1 A G 3: 152,218,015 Q123R possibly damaging Het
Galns A G 8: 122,584,954 I439T possibly damaging Het
Gsdmd T G 15: 75,864,954 L140R probably damaging Het
Hcrtr1 A G 4: 130,135,685 V201A possibly damaging Het
Ildr2 T A 1: 166,307,792 M371K probably benign Het
Kalrn G A 16: 34,314,212 T412I possibly damaging Het
Kdm5b C T 1: 134,624,918 Q1211* probably null Het
Loxhd1 T C 18: 77,429,975 S1840P possibly damaging Het
Maml2 A G 9: 13,706,485 M376V probably benign Het
Myo18b T A 5: 112,865,302 T812S possibly damaging Het
Nanp T A 2: 151,039,238 E30V probably null Het
Olfr1212 T G 2: 88,958,505 L13R probably damaging Het
Olfr1369-ps1 G T 13: 21,116,047 M118I probably damaging Het
Olfr203 A T 16: 59,303,627 H158L probably damaging Het
Parp3 T A 9: 106,474,194 N241I probably benign Het
Piezo2 T C 18: 63,042,539 N1924D probably benign Het
Pou1f1 A G 16: 65,529,925 N137S probably damaging Het
Ptgdr A G 14: 44,858,637 M206T probably damaging Het
Ptprd T C 4: 76,086,459 T20A probably benign Het
Rexo1 G C 10: 80,549,663 S520R probably benign Het
Sgip1 T A 4: 102,869,808 S94T probably benign Het
Slc35e3 A G 10: 117,740,880 V182A probably benign Het
Slfn2 A G 11: 83,070,263 E356G probably damaging Het
Spry4 C A 18: 38,589,929 K260N probably damaging Het
Sync A T 4: 129,293,582 M136L probably benign Het
Tm7sf2 A G 19: 6,070,608 V425A probably benign Het
Trim21 T A 7: 102,559,535 M326L probably benign Het
Trim62 A G 4: 128,896,884 Q158R probably benign Het
Tubgcp2 T A 7: 140,001,051 K663M probably damaging Het
Uggt1 T C 1: 36,163,235 I1094V probably damaging Het
Urb1 A G 16: 90,797,910 S245P probably damaging Het
Vwa3a A T 7: 120,752,615 D34V probably null Het
Zbtb45 C T 7: 13,007,399 A311T possibly damaging Het
Zfp655 T C 5: 145,237,189 S135P unknown 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
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
R9046:Mgat4e UTSW 1 134547004 missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- CGTGGCAAAGCTCATTAGGAAG -3'
(R):5'- TGAGTCTCACCATTGGCTTC -3'

Sequencing Primer
(F):5'- CTCATTAGGAAGGCATGGTCTAC -3'
(R):5'- ACTACCGTCCACTGACAGTTG -3'
Posted On 2019-10-24