Incidental Mutation 'R5691:Mgat4e'
ID 443658
Institutional Source Beutler Lab
Gene Symbol Mgat4e
Ensembl Gene ENSMUSG00000046367
Gene Name MGAT4 family, member E
Synonyms 4931440L10Rik
MMRRC Submission 043324-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock # R5691 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 134540941-134549682 bp(-) (GRCm38)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to T at 134540991 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052911] [ENSMUST00000172898] [ENSMUST00000185836]
AlphaFold A6H684
Predicted Effect unknown
Transcript: ENSMUST00000052911
AA Change: D438E
SMART Domains Protein: ENSMUSP00000125929
Gene: ENSMUSG00000046367
AA Change: D438E

DomainStartEndE-ValueType
Pfam:Glyco_transf_54 35 266 5e-61 PFAM
low complexity region 425 438 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000172898
AA Change: D438E
SMART Domains Protein: ENSMUSP00000133717
Gene: ENSMUSG00000046367
AA Change: D438E

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410022M11Rik A G 14: 56,812,373 probably benign Het
Abcb5 A T 12: 118,927,235 M509K probably damaging Het
Ap4m1 A G 5: 138,172,391 Y34C probably damaging Het
Aqp7 G A 4: 41,035,510 T115I probably benign Het
Bcl10 C T 3: 145,933,149 T182I probably benign Het
Cdc123 T A 2: 5,823,175 N87I probably benign Het
Cfap46 T C 7: 139,606,700 E2431G possibly damaging Het
Dcc T C 18: 71,575,083 T521A probably damaging Het
Defb46 T A 8: 19,242,133 I55K probably benign Het
Dlgap4 A G 2: 156,704,470 T353A probably benign Het
Eqtn C A 4: 94,923,728 probably null Het
Ermn A T 2: 58,047,764 M279K probably damaging Het
Fan1 C A 7: 64,354,370 probably null Het
Fbxo17 G A 7: 28,737,472 R284H probably damaging Het
Gm13084 A T 4: 143,812,009 W131R probably benign Het
Gm6614 A T 6: 141,994,855 Y93* probably null Het
Gm9745 A T 13: 8,942,657 Y91* probably null Het
Hectd4 A G 5: 121,348,815 D3291G possibly damaging Het
Hid1 A G 11: 115,348,819 W762R probably damaging Het
Ifi207 A G 1: 173,732,426 I160T unknown Het
Inpp4b T A 8: 81,890,694 probably benign Het
Iqcd C T 5: 120,602,506 Q301* probably null Het
Jph1 T G 1: 17,004,363 Q477P probably benign Het
Kdm4c A T 4: 74,334,728 I511L probably benign Het
Lrp2 T C 2: 69,502,553 D1540G probably damaging Het
Lrrc69 T A 4: 14,769,648 I168F probably damaging Het
Mroh7 C A 4: 106,702,618 G704V probably damaging Het
Nadsyn1 C T 7: 143,812,579 probably null Het
Ncoa2 A T 1: 13,180,550 C303S probably damaging Het
Nova1 T C 12: 46,816,955 T71A unknown Het
Nrcam T C 12: 44,564,256 Y554H probably damaging Het
Nubpl G A 12: 52,105,276 probably benign Het
Oasl2 C A 5: 114,899,767 T75K possibly damaging Het
Olfr1099 A T 2: 86,959,272 F62Y probably damaging Het
P3h3 C T 6: 124,855,153 G257R probably damaging Het
Parp14 A G 16: 35,863,539 V139A probably benign Het
Pgam5 G A 5: 110,267,093 P85S probably damaging Het
Phpt1 T C 2: 25,573,695 Y96C probably damaging Het
Plekhm2 A C 4: 141,628,289 S867A possibly damaging Het
Prss21 A G 17: 23,868,785 probably null Het
Rabgap1l A T 1: 160,735,684 Y108N probably damaging Het
Riox1 C T 12: 83,951,692 T334I possibly damaging Het
Rps3a2 G T 14: 88,123,047 noncoding transcript Het
Selenot C T 3: 58,586,026 A108V probably benign Het
Setd3 A T 12: 108,160,285 M98K probably benign Het
Slc22a27 T C 19: 7,926,670 H34R possibly damaging Het
Sp3 A G 2: 72,971,459 L70S probably damaging Het
Syne2 TCCAGGTAGGGCACACC TCC 12: 76,027,856 probably null Het
Tcl1b4 C A 12: 105,202,547 D23E possibly damaging Het
Tespa1 T A 10: 130,354,769 probably null Het
Tmc7 T C 7: 118,541,893 I672V probably benign Het
Trps1 T A 15: 50,827,304 Q14L probably benign Het
Vmn2r73 A G 7: 85,858,091 V671A probably damaging Het
Zfp106 G A 2: 120,524,471 S1273F probably damaging Het
Zfp90 C A 8: 106,425,078 Y474* probably null 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
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
Predicted Primers PCR Primer
(F):5'- TCTTCTTCAAACCCAGTGAGCAG -3'
(R):5'- ATGCACCAGCTTTACCCTGC -3'

Sequencing Primer
(F):5'- CCCAGTGAGCAGGGTGAG -3'
(R):5'- GGATCAGTTCATTCTGGAAAGC -3'
Posted On 2016-11-09